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Non-allelic heterogeneity
<!DOCTYPE html PUBLIC "-//W3C//DTD XHTML 1.0 Transitional//EN" "http://www.w3.org/TR/xhtml1/DTD/xhtml1-transitional.dtd"> <html xmlns="http://www.w3.org/1999/xhtml" lang="en-US" xml:lang="en-US"> <head> <title>Non-allelic heterogeneity</title> <link rel="stylesheet" type="text/css" href="allelic.css" /> <meta http-equiv="Content-Type" content="text/html; charset=iso-8859-1" /> </head> <body> <h1>Non-allelic heterogeneity</h1> <p class="date">Source: OMIM morbidmap ('09-1-8)</p> <table border> <tr><th>Frequency</th><th>Disease</th><th>Related Gene</th></tr> <tr><td rowspan=23>23</td><td rowspan=23><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125853">NIDDM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138430"><span class="gene">GPD2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601724"><span class="gene">NEUROD1, NIDDM</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147545"><span class="gene">IRS1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608289"><span class="gene">IGF2BP2, IMP2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606201"><span class="gene">WFS1, WFRS, WFS, DFNA6</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608036"><span class="gene">NIDDM4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611259"><span class="gene">CDKAL1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192240"><span class="gene">VEGF</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173335"><span class="gene">ENPP1, PDNP1, NPPS, M6S1, PCA1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079"><span class="gene">GCK, HHF3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602228"><span class="gene">TCF7L2, TCF4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509"><span class="gene">ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937"><span class="gene">KCNJ11, BIR, PHHI, HHF2, TNDM3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604641"><span class="gene">MAPK8IP1, IB1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142410"><span class="gene">TCF1, HNF1A, MODY3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733"><span class="gene">IPF1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600797"><span class="gene">IRS2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189907"><span class="gene">TCF2, HNF2, MODY5, FJHN</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138033"><span class="gene">GCGR</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605565"><span class="gene">RETN, RSTN, FIZZ3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731"><span class="gene">AKT2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281"><span class="gene">HNF4A, TCF14, MODY1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603694"><span class="gene">NIDDM3</span></a></td></tr> <tr><td rowspan=22>22</td><td rowspan=22><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=181500">SCZD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601525"><span class="gene">CHI3L1, GP39, YKL40</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605210"><span class="gene">DISC1, SCZD9</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606271"><span class="gene">DISC2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600755"><span class="gene">SYN2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126451"><span class="gene">DRD3, ETM1, FET1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600511"><span class="gene">SCZD3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607145"><span class="gene">DTNBP1, HPS7</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603013"><span class="gene">SCZD6</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608078"><span class="gene">SCZD11</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603342"><span class="gene">SCZD2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124050"><span class="gene">DAO, DAMOX</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182135"><span class="gene">HTR2A</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603176"><span class="gene">SCZD7</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607408"><span class="gene">G72</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164730"><span class="gene">AKT1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605419"><span class="gene">SCZD10</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603206"><span class="gene">SCZD8</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605566"><span class="gene">RTN4R, NOGOR</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116790"><span class="gene">COMT</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603743"><span class="gene">APOL1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607252"><span class="gene">APOL2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607254"><span class="gene">APOL4</span></a></td></tr> <tr><td rowspan=20>20</td><td rowspan=20><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601665">OBESITY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186357"><span class="gene">SDC3, SYND3, SDCN</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604630"><span class="gene">NR0B2, SHP</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605353"><span class="gene">GHRL</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487"><span class="gene">PPARG, PPARG1, PPARG2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608410"><span class="gene">OB4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113730"><span class="gene">UCP1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602606"><span class="gene">CART</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109690"><span class="gene">ADRB2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608886"><span class="gene">PPARGC1B, PGC1B, PERC</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603128"><span class="gene">SIM1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173335"><span class="gene">ENPP1, PDNP1, NPPS, M6S1, PCA1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109691"><span class="gene">ADRB3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603188"><span class="gene">OB10P</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607514"><span class="gene">OB10Q</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601693"><span class="gene">UCP2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602044"><span class="gene">UCP3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610966"><span class="gene">FTO</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602311"><span class="gene">AGRP, ART, AGRT</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155541"><span class="gene">MC4R</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155540"><span class="gene">MC3R</span></a></td></tr> <tr><td rowspan=20>20</td><td rowspan=20><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176807">PROSTATE CANCER</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180435"><span class="gene">RNASEL, RNS4, PRCA1, HPC1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602759"><span class="gene">PCAP</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602686"><span class="gene">MAD1L1, TXBP181</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608658"><span class="gene">HPC4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601767"><span class="gene">HIP1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153622"><span class="gene">MSR1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601385"><span class="gene">N33</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602053"><span class="gene">KLF6, COPEB, BCD1, ZF9</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728"><span class="gene">PTEN, MMAC1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600020"><span class="gene">MXI1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600623"><span class="gene">CD82, SAR2, KAI1, ST6</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600185"><span class="gene">BRCA2, FANCD1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104155"><span class="gene">ATBF1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605367"><span class="gene">ELAC2, HPC2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189907"><span class="gene">TCF2, HNF2, MODY5, FJHN</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607592"><span class="gene">HPCQTL19</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608656"><span class="gene">HPC3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604373"><span class="gene">CHEK2, RAD53, CHK2, CDS1, LFS2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700"><span class="gene">AR, DHTR, TFM, SBMA, KD, SMAX1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300147"><span class="gene">HPCX</span></a></td></tr> <tr><td rowspan=19>19</td><td rowspan=19><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601626">AML</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600358"><span class="gene">GMPS</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601402"><span class="gene">MLF1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600700"><span class="gene">LPP</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604332"><span class="gene">CHIC2, BTL</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920"><span class="gene">KIT, PBT</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606681"><span class="gene">NSD1, ARA267, STO</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164040"><span class="gene">NPM1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607083"><span class="gene">WHSC1L1, NSD3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147796"><span class="gene">JAK2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114350"><span class="gene">NUP214, D9S46E, CAN, CAIN</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602409"><span class="gene">AF10</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603025"><span class="gene">CALM, CLTH</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604763"><span class="gene">ARHGEF12, LARG, KIAA0382</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600618"><span class="gene">ETV6, TEL</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136351"><span class="gene">FLT3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602439"><span class="gene">AMLCR2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601768"><span class="gene">SH3GL1, EEN</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116897"><span class="gene">CEBPA, CEBP</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151385"><span class="gene">RUNX1, CBFA2, AML1</span></a></td></tr> <tr><td rowspan=19>19</td><td rowspan=19><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=145500">HYPERTENSION, ESSENTIAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600423"><span class="gene">ECE1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182330"><span class="gene">ATP1B1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603276"><span class="gene">RGS5</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131210"><span class="gene">SELE, ELAM1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106150"><span class="gene">AGT, SERPINA8</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607329"><span class="gene">HYT3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106165"><span class="gene">AGTR1, AGTR1A, AT2R1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102680"><span class="gene">ADD1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610262"><span class="gene">HYT6</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605325"><span class="gene">CYP3A5, P450PCN3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163729"><span class="gene">NOS3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139130"><span class="gene">GNB3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608742"><span class="gene">HYT4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604329"><span class="gene">HYT2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163730"><span class="gene">NOS2A, NOS2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603918"><span class="gene">HYT1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171190"><span class="gene">PNMT, PENT</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610261"><span class="gene">HYT5</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601699"><span class="gene">PTGIS, CYP8A1, PGIS, CYP8</span></a></td></tr> <tr><td rowspan=17>17</td><td rowspan=17><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114500">CRC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172411"><span class="gene">PLA2G2A, PLA2B, PLA2L, MOM1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790"><span class="gene">NRAS</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=165640"><span class="gene">ODC1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171834"><span class="gene">PIK3CA</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603028"><span class="gene">TLR2, TIL4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604584"><span class="gene">PDGFRL, PDGRL, PRLTS</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603030"><span class="gene">TLR4, ARMD10</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600925"><span class="gene">PTPRJ, DEP1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604395"><span class="gene">MLH3, HNPCC7</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164730"><span class="gene">AKT1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602860"><span class="gene">BUB1B, BUBR1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170"><span class="gene">TP53, P53, LFS1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607273"><span class="gene">FLCN, BHD</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604025"><span class="gene">AXIN2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602932"><span class="gene">SMAD7, MADH7</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603072"><span class="gene">AURKA, STK15, AURORA2, BTAK, ARK1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602700"><span class="gene">EP300</span></a></td></tr> <tr><td rowspan=16>16</td><td rowspan=16><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114480">BREAST CANCER</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601763"><span class="gene">CASP8, MCH5, ALPS2B</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601593"><span class="gene">BARD1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171834"><span class="gene">PIK3CA</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600936"><span class="gene">HMMR</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606837"><span class="gene">RB1CC1, CC1, KIAA0203</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602631"><span class="gene">SLC22A1L, BWSCR1A, IMPT1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607585"><span class="gene">ATM, ATA, AT1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070"><span class="gene">KRAS2, RASK2, NS3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600185"><span class="gene">BRCA2, FANCD1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164730"><span class="gene">AKT1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179617"><span class="gene">RAD51A, RECA</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610355"><span class="gene">PALB2, FANCN</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170"><span class="gene">TP53, P53, LFS1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605882"><span class="gene">BRIP1, BACH1, FANCJ</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605100"><span class="gene">PPM1D, WIP1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604373"><span class="gene">CHEK2, RAD53, CHK2, CDS1, LFS2</span></a></td></tr> <tr><td rowspan=15>15</td><td rowspan=15><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152700">SLE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600716"><span class="gene">PTPN22, PEP, PTPN8, LYP</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604590"><span class="gene">FCGR2B, CD32</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146740"><span class="gene">FCGR3A, CD16, IGFR3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134638"><span class="gene">TNFSF6, APT1LG1, FASL</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601744"><span class="gene">SLEB1, SLE1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600558"><span class="gene">STAT4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600244"><span class="gene">PDCD1, SLEB2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609"><span class="gene">TREX1, AGS1, AGS5, CRV, HERNS</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605480"><span class="gene">SLEB3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120810"><span class="gene">C4A, C4S</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607279"><span class="gene">SLEH1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608437"><span class="gene">SLEB4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609903"><span class="gene">SLEB5</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125505"><span class="gene">DNASE1, DNL1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609939"><span class="gene">SLEB6</span></a></td></tr> <tr><td rowspan=14>14</td><td rowspan=14><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104300">AD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602710"><span class="gene">APBB2, FE65L1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609636"><span class="gene">AD10</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163729"><span class="gene">NOS3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608254"><span class="gene">PACIP1, PAXIP1L, PTIP</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605526"><span class="gene">AD6</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191840"><span class="gene">PLAU, URK</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602005"><span class="gene">SORL1, LR11, SORLA</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103950"><span class="gene">A2M</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602096"><span class="gene">AD5</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602403"><span class="gene">BLMH, BMH</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106180"><span class="gene">ACE, DCP1, ACE1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606989"><span class="gene">MPO</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608907"><span class="gene">AD9</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607116"><span class="gene">AD8</span></a></td></tr> <tr><td rowspan=13>13</td><td rowspan=13><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600807">ASTHMA, SUSCEPTIBILITY TO</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605238"><span class="gene">HNMT</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=158375"><span class="gene">MUC7</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147683"><span class="gene">IL13, ALRH, BHR1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606531"><span class="gene">SCGB3A2, UGRP1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=161561"><span class="gene">IL12B, NKSF2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109690"><span class="gene">ADRB2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142871"><span class="gene">HLA-G</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191160"><span class="gene">TNF, TNFA</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601690"><span class="gene">PLA2G7, PAFAH</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152390"><span class="gene">ALOX5</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192020"><span class="gene">UGB, CC10, CCSP, SCGB1A1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607796"><span class="gene">PHF11, NYREN34</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601156"><span class="gene">CCL11, SCYA11</span></a></td></tr> <tr><td rowspan=13>13</td><td rowspan=13><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=266600">IBD1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605225"><span class="gene">IBD7</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607562"><span class="gene">IL23R</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608448"><span class="gene">IBD9</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606348"><span class="gene">IBD5</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604190"><span class="gene">SLC22A4, OCTN1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604519"><span class="gene">IBD3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602215"><span class="gene">DEFB4, DEFB2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604090"><span class="gene">DLG5, PDLG, KIAA0583</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601458"><span class="gene">IBD2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606675"><span class="gene">IBD4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606668"><span class="gene">IBD8</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605956"><span class="gene">NOD2, CARD15, IBD1, CD, ACUG, PSORAS1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606674"><span class="gene">IBD6</span></a></td></tr> <tr><td rowspan=13>13</td><td rowspan=13><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=211980">LUNG CANCER</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601763"><span class="gene">CASP8, MCH5, ALPS2B</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604050"><span class="gene">DLEC1, DLC1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605082"><span class="gene">RASSF1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171834"><span class="gene">PIK3CA</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544"><span class="gene">PRKN, PARK2, PDJ, LPRS2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131550"><span class="gene">EGFR</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757"><span class="gene">BRAF</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191195"><span class="gene">MAP3K8, COT, EST, TPL2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602631"><span class="gene">SLC22A1L, BWSCR1A, IMPT1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603113"><span class="gene">PPP2R1B</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070"><span class="gene">KRAS2, RASK2, NS3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164870"><span class="gene">ERBB2, NGL, NEU, HER2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122720"><span class="gene">CYP2A6, CYP2A3, CYP2A, P450C2A</span></a></td></tr> <tr><td rowspan=12>12</td><td rowspan=12><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=209900">BBS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603650"><span class="gene">BBS5</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845"><span class="gene">ARL6, BBS3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607590"><span class="gene">BBS7</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610683"><span class="gene">BBS12, FLJ35630, C4orf24</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607968"><span class="gene">PTHB1, BBS9</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602290"><span class="gene">TRIM32, HT2A, LGMD2H, BBS11</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=209901"><span class="gene">BBS1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610148"><span class="gene">BBS10, C12orf58, FLJ23560</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608132"><span class="gene">TTC8, BBS8</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600374"><span class="gene">BBS4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606151"><span class="gene">BBS2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896"><span class="gene">MKKS, HMCS, KMS, MKS, BBS6</span></a></td></tr> <tr><td rowspan=12>12</td><td rowspan=12><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137215">GASTRIC CANCER</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604933"><span class="gene">MUTYH, MYH</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147720"><span class="gene">IL1B</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147679"><span class="gene">IL1RN</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601762"><span class="gene">CASP10, MCH4, ALPS2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171834"><span class="gene">PIK3CA</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=175100"><span class="gene">APC, GS, FPC</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147575"><span class="gene">IRF1, MAR</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602053"><span class="gene">KLF6, COPEB, BCD1, ZF9</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943"><span class="gene">FGFR2, BEK, CFD1, JWS</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070"><span class="gene">KRAS2, RASK2, NS3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192090"><span class="gene">CDH1, UVO, LCAM, ECAD</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164870"><span class="gene">ERBB2, NGL, NEU, HER2</span></a></td></tr> <tr><td rowspan=11>11</td><td rowspan=11><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611162">MALARIA, SUSCEPTIBILITY TO</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=110700"><span class="gene">FY, GPD</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604590"><span class="gene">FCGR2B, CD32</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120620"><span class="gene">CR1, C3BR</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=110750"><span class="gene">GYPC, GE, GPC</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111300"><span class="gene">GYPA, MN, GPA</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191160"><span class="gene">TNF, TNFA</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173510"><span class="gene">CD36, CHDS7</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606252"><span class="gene">TIRAP</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163730"><span class="gene">NOS2A, NOS2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270"><span class="gene">SLC4A1, AE1, EPB3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147840"><span class="gene">ICAM1</span></a></td></tr> <tr><td rowspan=11>11</td><td rowspan=11><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168600">PD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606852"><span class="gene">PARK10</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602404"><span class="gene">PARK3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601828"><span class="gene">NR4A2, NURR1, NOT, TINUR</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191342"><span class="gene">UCHL1, PARK5</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603779"><span class="gene">SNCAIP</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600075"><span class="gene">TBP, SCA17</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609312"><span class="gene">DBH</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126452"><span class="gene">DRD4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140"><span class="gene">MAPT, MTBT1, DDPAC, MSTD</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600532"><span class="gene">NDUFV2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300557"><span class="gene">PARK12</span></a></td></tr> <tr><td rowspan=10>10</td><td rowspan=10><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609423">HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146929"><span class="gene">IL8RA</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600835"><span class="gene">CXCL12, SDF1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147570"><span class="gene">IFNG, IFG, IFI</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147781"><span class="gene">IL4R, IL4RA</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601395"><span class="gene">CCL3L1, SCYA3L1, LD78</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=158105"><span class="gene">CCL2, SCYA2, MCP1, MCAF</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182283"><span class="gene">CCL3, SCYA3, MIP1A</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601156"><span class="gene">CCL11, SCYA11</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604672"><span class="gene">CD209, CDSIGN</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604946"><span class="gene">KIR3DL1, NKAT3, NKB1, AMB11, KIR3DS1</span></a></td></tr> <tr><td rowspan=10>10</td><td rowspan=10><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256000">LS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647"><span class="gene">BCS1L, FLNMS, GRACILE, BJS, PTD</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600857"><span class="gene">SDHA, SDH2, SDHF</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602694"><span class="gene">NDUFS4, AQDQ</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331"><span class="gene">DLD, LAD, PHE3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=185620"><span class="gene">SURF1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603646"><span class="gene">COX15</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603846"><span class="gene">NDUFS3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602141"><span class="gene">NDUFS8</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=161015"><span class="gene">NDUFV1, UQOR1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601825"><span class="gene">NDUFS7, PSST</span></a></td></tr> <tr><td rowspan=9>9</td><td rowspan=9><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180300">RA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605347"><span class="gene">PADI4, PADI5, PAD</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600716"><span class="gene">PTPN22, PEP, PTPN8, LYP</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124092"><span class="gene">IL10, CSIF</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600558"><span class="gene">STAT4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604190"><span class="gene">SLC22A4, OCTN1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142857"><span class="gene">HLA-DR1B</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601022"><span class="gene">NFKBIL1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600005"><span class="gene">MHC2TA, C2TA</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151385"><span class="gene">RUNX1, CBFA2, AML1</span></a></td></tr> <tr><td rowspan=9>9</td><td rowspan=9><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177900">PSORS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605606"><span class="gene">PSORS7</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603935"><span class="gene">PSORS4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604316"><span class="gene">PSORS5</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601454"><span class="gene">PSORS3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607857"><span class="gene">PSORS9</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=161561"><span class="gene">IL12B, NKSF2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142840"><span class="gene">HLA-C, PSORS1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602723"><span class="gene">PSORS2, PSS1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605364"><span class="gene">PSORS6</span></a></td></tr> <tr><td rowspan=9>9</td><td rowspan=9><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137800">GLIOMA OF BRAIN, FAMILIAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609309"><span class="gene">MSH2, COCA1, FCC1, HNPCC1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487"><span class="gene">PPARG, PPARG1, PPARG2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608045"><span class="gene">RTE1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728"><span class="gene">PTEN, MMAC1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604619"><span class="gene">LGI1, EPT, ETL1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601969"><span class="gene">DMBT1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606417"><span class="gene">WDR11, DR11, KIAA1351</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607248"><span class="gene">GLM1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164870"><span class="gene">ERBB2, NGL, NEU, HER2</span></a></td></tr> <tr><td rowspan=8>8</td><td rowspan=8><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=214100">ZS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601791"><span class="gene">PEX14</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600279"><span class="gene">PXF, HK33, D1S2223E, PEX19</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602859"><span class="gene">PEX10, NALD</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601789"><span class="gene">PEX13, ZWS, NALD</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603164"><span class="gene">PEX3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602136"><span class="gene">PEX1, ZWS1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600414"><span class="gene">PEX5, PXR1, PTS1R</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608666"><span class="gene">PEX26</span></a></td></tr> <tr><td rowspan=8>8</td><td rowspan=8><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147050">IGER</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173610"><span class="gene">SELP, GRMP</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605010"><span class="gene">SPINK5, LEKTI</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606518"><span class="gene">HAVCR1, HAVCR</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601690"><span class="gene">PLA2G7, PAFAH</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147138"><span class="gene">MS4A2, FCER1B</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607796"><span class="gene">PHF11, NYREN34</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147781"><span class="gene">IL4R, IL4RA</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605383"><span class="gene">IL21R</span></a></td></tr> <tr><td rowspan=7>7</td><td rowspan=7><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607948">MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600266"><span class="gene">NRAMP1, NRAMP</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604457"><span class="gene">SP110, IFI41, IFI75, VODI</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107470"><span class="gene">IFNGR1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606252"><span class="gene">TIRAP</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147570"><span class="gene">IFNG, IFG, IFI</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=158105"><span class="gene">CCL2, SCYA2, MCP1, MCAF</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604672"><span class="gene">CD209, CDSIGN</span></a></td></tr> <tr><td rowspan=7>7</td><td rowspan=7><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=252010">MITOCHONDRIAL COMPLEX I DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602985"><span class="gene">NDUFS2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157655"><span class="gene">NDUFS1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603848"><span class="gene">NDUFS6</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602694"><span class="gene">NDUFS4, AQDQ</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609653"><span class="gene">MMTN, B17.2L</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=161015"><span class="gene">NDUFV1, UQOR1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300078"><span class="gene">NDUFA1, MWFE</span></a></td></tr> <tr><td rowspan=7>7</td><td rowspan=7><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203300">HPS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606118"><span class="gene">HPS3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607145"><span class="gene">DTNBP1, HPS7</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604982"><span class="gene">HPS1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607522"><span class="gene">HPS6, RU</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607521"><span class="gene">HPS5, RU2, KIAA1017</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609762"><span class="gene">BLOC1S3, BLOS3, HPS8</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606682"><span class="gene">HPS4</span></a></td></tr> <tr><td rowspan=7>7</td><td rowspan=7><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188550">THYROID CARCINOMA, PAPILLARY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605769"><span class="gene">TIF1G, RFG7, PTC7</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603406"><span class="gene">TRIM24, TIF1, TIF1A, PTC6</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600299"><span class="gene">PCM1, PTC4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601984"><span class="gene">NCOA4, ELE1, PTC3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601985"><span class="gene">CCDC6, D10S170, H4, TST1, PTC, TPC</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606918"><span class="gene">GOLGA5, RFG5, PTC5</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188830"><span class="gene">PRKAR1A, TSE1, CNC1, CAR, PPNAD1</span></a></td></tr> <tr><td rowspan=7>7</td><td rowspan=7><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=166710">OSTEOPOROSIS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603422"><span class="gene">RIL</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147620"><span class="gene">IL6, IFNB2, BSF2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114131"><span class="gene">CALCR, CRT</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160"><span class="gene">COL1A2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603506"><span class="gene">LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601769"><span class="gene">VDR</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150"><span class="gene">COL1A1</span></a></td></tr> <tr><td rowspan=7>7</td><td rowspan=7><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143465">ADHD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126453"><span class="gene">DRD5, DRD1B, DRD1L2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126455"><span class="gene">SLC6A3, DAT1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608906"><span class="gene">ADHD4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608905"><span class="gene">ADHD3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126452"><span class="gene">DRD4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608903"><span class="gene">ADHD1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608904"><span class="gene">ADHD2</span></a></td></tr> <tr><td rowspan=7>7</td><td rowspan=7><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114550">HEPATOCELLULAR CARCINOMA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601763"><span class="gene">CASP8, MCH5, ALPS2B</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116806"><span class="gene">CTNNB1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171834"><span class="gene">PIK3CA</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164860"><span class="gene">MET, AUTS9</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604584"><span class="gene">PDGFRL, PDGRL, PRLTS</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603816"><span class="gene">AXIN1, AXIN</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170"><span class="gene">TP53, P53, LFS1</span></a></td></tr> <tr><td rowspan=6>6</td><td rowspan=6><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606641">BMI</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607446"><span class="gene">BMIQ3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606642"><span class="gene">BMIQ1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607447"><span class="gene">BMIQ4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606643"><span class="gene">BMIQ2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608558"><span class="gene">BMIQ5</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608559"><span class="gene">BMIQ6</span></a></td></tr> <tr><td rowspan=6>6</td><td rowspan=6><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600669">EIG</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601949"><span class="gene">CACNB4, EJM, EA5</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600018"><span class="gene">OPRM1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606970"><span class="gene">EIG1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608762"><span class="gene">EIG3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606972"><span class="gene">EIG2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154270"><span class="gene">ME2</span></a></td></tr> <tr><td rowspan=6>6</td><td rowspan=6><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=209880">AUTONOMIC CONTROL, CONGENITAL FAILURE OF</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603851"><span class="gene">PMX2B, NBPHOX, PHOX2B</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600837"><span class="gene">GDNF</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761"><span class="gene">RET, MEN2A</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505"><span class="gene">BDNF</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100790"><span class="gene">ASCL1, ASH1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131242"><span class="gene">EDN3</span></a></td></tr> <tr><td rowspan=6>6</td><td rowspan=6><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192600">CMH</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253"><span class="gene">CAV3, LGMD1C</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191040"><span class="gene">TNNC1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160710"><span class="gene">MYH6, ASD3, MYHCA</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760"><span class="gene">MYH7, CMH1, MPD1, CMD1S</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540"><span class="gene">ACTC1, CMD1R</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606566"><span class="gene">MYLK2, MLCK</span></a></td></tr> <tr><td rowspan=6>6</td><td rowspan=6><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143890">HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107670"><span class="gene">APOA2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600564"><span class="gene">ITIH4, PK120, ITIHL1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604088"><span class="gene">GSBS</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=132811"><span class="gene">EPHX2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046"><span class="gene">ABCA1, ABC1, HDLDT1, TGD</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945"><span class="gene">LDLR, FHC, FH</span></a></td></tr> <tr><td rowspan=6>6</td><td rowspan=6><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133239">ESOPHAGEAL CANCER</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182"><span class="gene">TGFBR2, HNPCC6, AAT3, MFS2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604050"><span class="gene">DLEC1, DLC1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606551"><span class="gene">LZTS1, F37, FEZ1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604767"><span class="gene">DEC1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604242"><span class="gene">RNF6</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605131"><span class="gene">WWOX, FOR</span></a></td></tr> <tr><td rowspan=5>5</td><td rowspan=5><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608516">MDD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602623"><span class="gene">FKBP5, FKBP51</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607478"><span class="gene">TPH2, NTPH</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608520"><span class="gene">MDD1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182135"><span class="gene">HTR2A</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608691"><span class="gene">MDD2</span></a></td></tr> <tr><td rowspan=5>5</td><td rowspan=5><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603896">VWM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273"><span class="gene">EIF2B3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687"><span class="gene">EIF2B4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945"><span class="gene">EIF2B5, LVWM, CACH, CLE</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606686"><span class="gene">EIF2B1, EIF2BA</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606454"><span class="gene">EIF2B2</span></a></td></tr> <tr><td rowspan=5>5</td><td rowspan=5><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603075">ARMD1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608548"><span class="gene">HMCN1, FBLN6, FIBL6, ARMD1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217000"><span class="gene">C2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138470"><span class="gene">CFB, BF, GBG</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607772"><span class="gene">PLEKHA1, TAPP1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107741"><span class="gene">APOE, AD2</span></a></td></tr> <tr><td rowspan=5>5</td><td rowspan=5><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268000">RP</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608400"><span class="gene">USH2A, RP39</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604705"><span class="gene">MERTK, RP38</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180090"><span class="gene">RLBP1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600724"><span class="gene">CNGB1, CNCG3L, CNCG2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602225"><span class="gene">CRX, CORD2, CRD, LCA7</span></a></td></tr> <tr><td rowspan=5>5</td><td rowspan=5><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=236670">WWS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607440"><span class="gene">FKTN, FCMD</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423"><span class="gene">POMT1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607439"><span class="gene">POMT2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596"><span class="gene">FKRP, MDC1C, LGMD2I</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603590"><span class="gene">LARGE, KIAA0609, MDC1D</span></a></td></tr> <tr><td rowspan=5>5</td><td rowspan=5><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=226650">EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150292"><span class="gene">LAMC2, LAMNB2, LAMB2T</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150310"><span class="gene">LAMB3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113811"><span class="gene">COL17A1, BPAG2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557"><span class="gene">ITGB4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600805"><span class="gene">LAMA3, LOCS</span></a></td></tr> <tr><td rowspan=5>5</td><td rowspan=5><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=222100">IDDM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600716"><span class="gene">PTPN22, PEP, PTPN8, LYP</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147267"><span class="gene">ITPR3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164350"><span class="gene">OAS1, OIAS</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142410"><span class="gene">TCF1, HNF1A, MODY3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292"><span class="gene">FOXP3, IPEX, AIID, XPID, PIDX</span></a></td></tr> <tr><td rowspan=5>5</td><td rowspan=5><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=209950">ATYPICAL MYCOBACTERIOSIS, FAMILIAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600555"><span class="gene">STAT1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=161561"><span class="gene">IL12B, NKSF2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107470"><span class="gene">IFNGR1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601604"><span class="gene">IL12RB1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147569"><span class="gene">IFNGR2, IFNGT1, IFGR2</span></a></td></tr> <tr><td rowspan=5>5</td><td rowspan=5><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=202370">ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602859"><span class="gene">PEX10, NALD</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601789"><span class="gene">PEX13, ZWS, NALD</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602136"><span class="gene">PEX1, ZWS1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600414"><span class="gene">PEX5, PXR1, PTS1R</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608666"><span class="gene">PEX26</span></a></td></tr> <tr><td rowspan=5>5</td><td rowspan=5><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171300">PHEOCHROMOCYTOMA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=185470"><span class="gene">SDHB, SDH1, SDHIP, PGL4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608537"><span class="gene">VHL</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600837"><span class="gene">GDNF</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761"><span class="gene">RET, MEN2A</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602690"><span class="gene">SDHD, PGL1</span></a></td></tr> <tr><td rowspan=5>5</td><td rowspan=5><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152430">LONGEVITY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610640"><span class="gene">YTHDF2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606460"><span class="gene">LGV1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603030"><span class="gene">TLR4, ARMD10</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118470"><span class="gene">CETP, HDLCQ10</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604694"><span class="gene">AKAP10</span></a></td></tr> <tr><td rowspan=5>5</td><td rowspan=5><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=144700">RCC1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601982"><span class="gene">OGG1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608537"><span class="gene">VHL</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602773"><span class="gene">DIRC2, RCC4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603046"><span class="gene">RNF139, TRC8, RCA1, HRCA1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607273"><span class="gene">FLCN, BHD</span></a></td></tr> <tr><td rowspan=5>5</td><td rowspan=5><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142623">HSCR1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603851"><span class="gene">PMX2B, NBPHOX, PHOX2B</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600837"><span class="gene">GDNF</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761"><span class="gene">RET, MEN2A</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131242"><span class="gene">EDN3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840"><span class="gene">L1CAM, CAML1, HSAS1</span></a></td></tr> <tr><td rowspan=5>5</td><td rowspan=5><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126200">MS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151460"><span class="gene">PTPRC, CD45, LCA</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604305"><span class="gene">HLA-DQB1, CELIAC1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142857"><span class="gene">HLA-DR1B</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600074"><span class="gene">CD24</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600005"><span class="gene">MHC2TA, C2TA</span></a></td></tr> <tr><td rowspan=5>5</td><td rowspan=5><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105400">ALS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143"><span class="gene">DCTN1, HMN7B</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170710"><span class="gene">PRPH</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850"><span class="gene">ANG, RNASE5</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450"><span class="gene">SOD1, ALS1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162230"><span class="gene">NEFH</span></a></td></tr> <tr><td rowspan=4>4</td><td rowspan=4><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608931">MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296"><span class="gene">MUSK</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601592"><span class="gene">RAPSN, CMS1D, CMS1E</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100725"><span class="gene">CHRNE, SCCMS, CMS2A, FCCMS, CMS1E, CMS1D</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100710"><span class="gene">CHRNB1, ACHRB, SCCMS, CMS2A, CMS1D</span></a></td></tr> <tr><td rowspan=4>4</td><td rowspan=4><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607426">COENZYME Q10 DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609825"><span class="gene">COQ2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610564"><span class="gene">PDSS2, DLP1, C6orf210</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350"><span class="gene">APTX, AOA, AOA1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607429"><span class="gene">PDSS1, TPT, COQ1</span></a></td></tr> <tr><td rowspan=4>4</td><td rowspan=4><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604370">OVARIAN CANCER, EPITHELIAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171834"><span class="gene">PIK3CA</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544"><span class="gene">PRKN, PARK2, PDJ, LPRS2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600632"><span class="gene">OPCML</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164730"><span class="gene">AKT1</span></a></td></tr> <tr><td rowspan=4>4</td><td rowspan=4><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604271">SHORT STATURE, IDIOPATHIC, AUTOSOMAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601898"><span class="gene">GHSR</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139250"><span class="gene">GH1, GHN</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865"><span class="gene">SHOX, GCFX, SS, PHOG</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=400020"><span class="gene">SHOXY</span></a></td></tr> <tr><td rowspan=4>4</td><td rowspan=4><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604233">GEFS+</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182390"><span class="gene">SCN2A1, SCN2A</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389"><span class="gene">SCN1A, GEFSP2, SMEI, FEB3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137164"><span class="gene">GABRG2, GEFSP3, CAE2, ECA2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600235"><span class="gene">SCN1B, GEFSP1</span></a></td></tr> <tr><td rowspan=4>4</td><td rowspan=4><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603932">IDD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120260"><span class="gene">COL9A2, EDM2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120280"><span class="gene">COL11A1, STL2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603489"><span class="gene">CILP</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120270"><span class="gene">COL9A3, EDM3, IDD</span></a></td></tr> <tr><td rowspan=4>4</td><td rowspan=4><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603165">DERMATITIS, ATOPIC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135940"><span class="gene">FLG</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605845"><span class="gene">ATOD6</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605844"><span class="gene">ATPD5</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605804"><span class="gene">ATOD3</span></a></td></tr> <tr><td rowspan=4>4</td><td rowspan=4><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601462">SCCMS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100690"><span class="gene">CHRNA1, ACHRD, CMS2A, SCCMS, FCCMS</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100720"><span class="gene">CHRND, ACHRD, SCCMS, CMS2A, FCCMS</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100725"><span class="gene">CHRNE, SCCMS, CMS2A, FCCMS, CMS1E, CMS1D</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100710"><span class="gene">CHRNB1, ACHRB, SCCMS, CMS2A, CMS1D</span></a></td></tr> <tr><td rowspan=4>4</td><td rowspan=4><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=275000">GRAVES DISEASE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123890"><span class="gene">CTLA4, IDDM12, CELIAC3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139200"><span class="gene">GC, DBP</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603388"><span class="gene">GRD2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300351"><span class="gene">GRDX, GD3</span></a></td></tr> <tr><td rowspan=4>4</td><td rowspan=4><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=267430">RTD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179820"><span class="gene">REN</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106150"><span class="gene">AGT, SERPINA8</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106165"><span class="gene">AGTR1, AGTR1A, AT2R1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106180"><span class="gene">ACE, DCP1, ACE1</span></a></td></tr> <tr><td rowspan=4>4</td><td rowspan=4><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=260350">PANCREATIC CARCINOMA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601916"><span class="gene">ARMET, ARP</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070"><span class="gene">KRAS2, RASK2, NS3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600185"><span class="gene">BRCA2, FANCD1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170"><span class="gene">TP53, P53, LFS1</span></a></td></tr> <tr><td rowspan=4>4</td><td rowspan=4><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251880">MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137960"><span class="gene">MPV17</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601465"><span class="gene">DGUOK, DGK</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603921"><span class="gene">SUCLA2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188250"><span class="gene">TK2</span></a></td></tr> <tr><td rowspan=4>4</td><td rowspan=4><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248600">MAPLE SYRUP URINE DISEASE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248610"><span class="gene">DBT, BCATE2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248611"><span class="gene">BCKDHB, E1B</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331"><span class="gene">DLD, LAD, PHE3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348"><span class="gene">BCKDHA, MSUD1</span></a></td></tr> <tr><td rowspan=4>4</td><td rowspan=4><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=209920">BARE LYMPHOCYTE SYNDROME, TYPE II</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601863"><span class="gene">RFX5</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601861"><span class="gene">RFXAP</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600005"><span class="gene">MHC2TA, C2TA</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603200"><span class="gene">RFXANK</span></a></td></tr> <tr><td rowspan=4>4</td><td rowspan=4><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188890">TOBACCO ADDICTION, SUSCEPTIBILITY TO</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126455"><span class="gene">SLC6A3, DAT1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607340"><span class="gene">GPR51, GABBR2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122720"><span class="gene">CYP2A6, CYP2A3, CYP2A, P450C2A</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118504"><span class="gene">CHRNA4, ENFL1</span></a></td></tr> <tr><td rowspan=4>4</td><td rowspan=4><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188470">FTC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790"><span class="gene">NRAS</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605391"><span class="gene">MINPP1, HIPER1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728"><span class="gene">PTEN, MMAC1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020"><span class="gene">HRAS</span></a></td></tr> <tr><td rowspan=4>4</td><td rowspan=4><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187500">TETRALOGY OF FALLOT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584"><span class="gene">NKX2E, CSX</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603693"><span class="gene">ZFPM2, FOG2, DIH3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602880"><span class="gene">GDF1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601920"><span class="gene">JAG1, AGS, AHD</span></a></td></tr> <tr><td rowspan=4>4</td><td rowspan=4><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=165720">OS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605083"><span class="gene">FRZB, FRZB1, SRFP3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608135"><span class="gene">ASPN, PLAP1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140"><span class="gene">COL2A1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601146"><span class="gene">GDF5, CDMP1, SYNS2</span></a></td></tr> <tr><td rowspan=4>4</td><td rowspan=4><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155255">MDB</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603673"><span class="gene">PTCH2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309"><span class="gene">PTCH1, NBCCS, BCNS, HPE7</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607035"><span class="gene">SUFU, SUFUXL, SUFUH</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601969"><span class="gene">DMBT1</span></a></td></tr> <tr><td rowspan=4>4</td><td rowspan=4><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151400">CLL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168461"><span class="gene">CCND1, PRAD1, BCL1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602566"><span class="gene">P2RX7, P2X7</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609351"><span class="gene">ARL11, ARLTS1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609704"><span class="gene">MIRN16-1, MIR16-1</span></a></td></tr> <tr><td rowspan=4>4</td><td rowspan=4><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=149400">HYPEREKPLEXIA, HEREDITARY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138492"><span class="gene">GLRB</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138491"><span class="gene">GLRA1, STHE</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604159"><span class="gene">SLC6A5, GLYT2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603930"><span class="gene">GPH, KIAA1385, GEPH</span></a></td></tr> <tr><td rowspan=4>4</td><td rowspan=4><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=145900">HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440"><span class="gene">MPZ, CMT1B, CMTDI3, CHM, DSS</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010"><span class="gene">EGR2, KROX20</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601097"><span class="gene">PMP22, CMT1A, CMT1E, DSS</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605725"><span class="gene">PRX, CMT4F</span></a></td></tr> <tr><td rowspan=4>4</td><td rowspan=4><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130650">BWS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606681"><span class="gene">NSD1, ARA267, STO</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600856"><span class="gene">CDKN1C, KIP2, BWS</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103280"><span class="gene">H19, D11S813E, ASM1, BWS</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604115"><span class="gene">KCNQ10T1, LIT1</span></a></td></tr> <tr><td rowspan=4>4</td><td rowspan=4><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109800">BLADDER CANCER</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934"><span class="gene">FGFR3, ACH</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020"><span class="gene">HRAS</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070"><span class="gene">KRAS2, RASK2, NS3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180200"><span class="gene">RB1</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611664">SHEP7</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606202"><span class="gene">SLC45A2, MATP, AIM1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606933"><span class="gene">TYR</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609802"><span class="gene">SLC24A5, NCKX5</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609830">ABDOMINAL BODY FAT DISTRIBUTION</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176830"><span class="gene">POMC</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487"><span class="gene">PPARG, PPARG1, PPARG2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176885"><span class="gene">PTPN1, PTP1B</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609135">APLASTIC ANEMIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602322"><span class="gene">TERC, TRC3, TR</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187270"><span class="gene">TERT, TCS1, EST2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147570"><span class="gene">IFNG, IFG, IFI</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608930">MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100690"><span class="gene">CHRNA1, ACHRD, CMS2A, SCCMS, FCCMS</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100720"><span class="gene">CHRND, ACHRD, SCCMS, CMS2A, FCCMS</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100725"><span class="gene">CHRNE, SCCMS, CMS2A, FCCMS, CMS1E, CMS1D</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608446">MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602600"><span class="gene">LRP8, APOER2, MCI1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603594"><span class="gene">TNFSF4, GP34, OX4OL</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430"><span class="gene">ESR1, ESR</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607785">JMML</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605370"><span class="gene">ARHGAP26, GRAF</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876"><span class="gene">PTPN11, PTP2C, SHP2, NS1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162200"><span class="gene">NF1, VRNF, WSS, NFNS</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607748">FHCA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=132810"><span class="gene">EPHX1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607709"><span class="gene">TJP2, ZO2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602938"><span class="gene">BAAT</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607174">MENINGIOMA, FAMILIAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728"><span class="gene">PTEN, MMAC1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607379"><span class="gene">NF2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156100"><span class="gene">MN1, MGCR</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606904">JME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601949"><span class="gene">CACNB4, EJM, EA5</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570"><span class="gene">CLCN2, EGMA, ECA3, EGI3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137160"><span class="gene">GABRA1, EJM, ECA4</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606864">PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=185470"><span class="gene">SDHB, SDH1, SDHIP, PGL4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602413"><span class="gene">SDHC, PGL3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602690"><span class="gene">SDHD, PGL1</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606176">PNDM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079"><span class="gene">GCK, HHF3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509"><span class="gene">ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937"><span class="gene">KCNJ11, BIR, PHHI, HHF2, TNDM3</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605899">GCE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310"><span class="gene">AMT, NKH, GCE</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238300"><span class="gene">GLDC, HYGN1, GCSP, GCE, NKH</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238330"><span class="gene">GCSH, NKH</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605074">RENAL CELL CARCINOMA, PAPILLARY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179755"><span class="gene">PRCC, RCCP1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164860"><span class="gene">MET, AUTS9</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314310"><span class="gene">TFE3</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604571">BARE LYMPHOCYTE SYNDROME, TYPE I</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170260"><span class="gene">TAP1, ABCB2, TAP1, RING4, PSF1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170261"><span class="gene">TAP2, ABCB3, PSF2, RING11</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601962"><span class="gene">TAPBP, TPSN</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603554">OMENN SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605988"><span class="gene">DCLRE1C, ARTEMIS, SCIDA</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179615"><span class="gene">RAG1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179616"><span class="gene">RAG2</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602522">BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602024"><span class="gene">CLCNKA</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023"><span class="gene">CLCNKB</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606412"><span class="gene">BSND</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602080">PDB</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606263"><span class="gene">PDB4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601530"><span class="gene">SQSTM1, P62, PDB3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603499"><span class="gene">TNFRSF11A, RANK, ODFR, OFE</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601680">DA2B</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191043"><span class="gene">TNNI2, AMCD2B, DA2B, FSSV</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600692"><span class="gene">TNNT3, AMCD2B, DA2B, FSSV</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720"><span class="gene">MYH3</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601675">TTDP</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133510"><span class="gene">ERCC3, XPB</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608780"><span class="gene">TGF2H5, TTDA, TFB5, C6orf175</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340"><span class="gene">ERCC2, EM9, XPD, COFS2</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601634">NEURAL TUBE DEFECTS, FOLATE-SENSITIVE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156570"><span class="gene">MTR</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568"><span class="gene">MTRR</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172460"><span class="gene">MTHFD, MTHFC</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601495">AGAMMAGLOBULINEMIA, NON-BRUTON TYPE, AUTOSOMAL RECESSIVE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608360"><span class="gene">LRRC8, KIAA1437</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147020"><span class="gene">IGHM, MU</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770"><span class="gene">IGLL1, IGO, IGL5, VPREB2</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601367">STROKE, ISCHEMIC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163729"><span class="gene">NOS3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603700"><span class="gene">ALOX5AP, FLAP</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437"><span class="gene">PRKCH, PKCL, PRKCL</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277580">WAARDENBURG-SHAH SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131244"><span class="gene">EDNRB, HSCR2, ABCDS</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131242"><span class="gene">EDN3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602229"><span class="gene">SOX10, WS4, WS2E</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276300">MISMATCH REPAIR CANCER SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120436"><span class="gene">MLH1, COCA2, HNPCC2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=175100"><span class="gene">APC, GS, FPC</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600259"><span class="gene">PMS2, PMSL2, HNPCC4</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268220">RMS2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167410"><span class="gene">PAX7</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597"><span class="gene">PAX3, WS1, HUP2, CDHS</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136533"><span class="gene">FOXO1A, FKHR</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=266510">REFSUM DISEASE, INFANTILE FORM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602136"><span class="gene">PEX1, ZWS1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170993"><span class="gene">PXMP3, PAF1, PMP35, PEX2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608666"><span class="gene">PEX26</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264800">PXE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234"><span class="gene">ABCC6, ARA, ABC34, MLP1, PXE</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608124"><span class="gene">XYLT1, XT1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608125"><span class="gene">XYLT2, XT2</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264350">PHA1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600228"><span class="gene">SCNN1A</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600760"><span class="gene">SCNN1B</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600761"><span class="gene">SCNN1G, PHA1</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=259500">OSTEOGENIC SARCOMA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180200"><span class="gene">RB1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603045"><span class="gene">LOH18CR1, OSTS</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604373"><span class="gene">CHEK2, RAD53, CHK2, CDS1, LFS2</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=254090">UCMD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120250"><span class="gene">COL6A3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120220"><span class="gene">COL6A1, OPLL</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240"><span class="gene">COL6A2</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=252150">MOLYBDENUM COFACTOR DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603708"><span class="gene">MOCS2, MPTS</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603707"><span class="gene">MOCS1, MOCOD</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603930"><span class="gene">GPH, KIAA1385, GEPH</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251200">MCPH1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607117"><span class="gene">MCPH1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604321"><span class="gene">MCPH4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604317"><span class="gene">MCPH2</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=244400">CILD1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603335"><span class="gene">DNAH5, HL1, PCD, CILD3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603339"><span class="gene">DNAH11, DNAHC11</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604366"><span class="gene">DNAI1, CILD1, ICS, PCD</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=242100">NCIE1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190195"><span class="gene">TGM1, ICR2, LI1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603741"><span class="gene">ALOX12B</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607206"><span class="gene">ALOXE3</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=231680">MADD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=231675"><span class="gene">ETFDH, MADD</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608053"><span class="gene">ETFA, GA2, MADD</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130410"><span class="gene">ETFB, MADD</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=231200">GIANT PLATELET SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173515"><span class="gene">GP9</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606672"><span class="gene">GP1BA</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138720"><span class="gene">GP1BB</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=226700">EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150292"><span class="gene">LAMC2, LAMNB2, LAMB2T</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150310"><span class="gene">LAMB3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600805"><span class="gene">LAMA3, LOCS</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219100">CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153455"><span class="gene">LOX</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604633"><span class="gene">EFEMP2, FBLN4, UPH1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604580"><span class="gene">FBLN5, ARMD3</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217095">CTHM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605194"><span class="gene">CFC1, CRYPTIC, HTX2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602880"><span class="gene">GDF1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602054"><span class="gene">TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=211900">HFTC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601756"><span class="gene">GALNT3, HHS, HFTC</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605380"><span class="gene">FGF23, ADHR, HPDR2, PHPTC</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604824"><span class="gene">KL</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=194070">WT1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102"><span class="gene">WT1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600185"><span class="gene">BRCA2, FANCD1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300037"><span class="gene">GPC3, SDYS, SGBS1</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191100">TS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605284"><span class="gene">TSC1, LAM</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147570"><span class="gene">IFNG, IFG, IFI</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191092"><span class="gene">TSC2, LAM</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187950">THROMBOCYTHEMIA, ESSENTIAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159530"><span class="gene">MPL, TPOR, MPLV</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600044"><span class="gene">THPO, MGDF, MPLLG, TPO</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147796"><span class="gene">JAK2</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182940">NEURAL TUBE DEFECTS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610132"><span class="gene">VANGL1, STBM2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601397"><span class="gene">T, TFT</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=158105"><span class="gene">CCL2, SCYA2, MCP1, MCAF</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178500">PULMONARY FIBROSIS, IDIOPATHIC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610196"><span class="gene">ELMOD2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187270"><span class="gene">TERT, TCS1, EST2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630"><span class="gene">SFTPA1, SFTP1</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174900">JPS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299"><span class="gene">BMPR1A, ACVRLK3, ALK3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728"><span class="gene">PTEN, MMAC1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600993"><span class="gene">MADH4, DPC4, SMAD4, JIP</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170400">HOKPP</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114208"><span class="gene">CACNA1S, CACNL1A3, CCHL1A3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604433"><span class="gene">KCNE3, HOKPP</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967"><span class="gene">SCN4A, HYPP, NAC1A</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164230">OCD1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505"><span class="gene">BDNF</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182135"><span class="gene">HTR2A</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182138"><span class="gene">SLC6A4, HTT, OCD1</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=161950">IGAN1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131210"><span class="gene">SELE, ELAM1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153240"><span class="gene">SELL, LYAM1, LAM1, LNHR</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173880"><span class="gene">PIGR</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=161800">NEM3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191030"><span class="gene">TPM3, NEM1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610"><span class="gene">ACTA1, ASMA, NEM3, NEM1, CFTD1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190990"><span class="gene">TPM2, TMSB, AMCD1, DA1</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=161400">NRCLP1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605841"><span class="gene">NRCLP2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602358"><span class="gene">HCRT, OX</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610259"><span class="gene">NLC1A</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160150">MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611089"><span class="gene">MTMR14, C3orf29, HJUMPY</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159991"><span class="gene">MYF6</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378"><span class="gene">DNM2, CMTDIB, CMTDI1</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=158810">BETHLEM MYOPATHY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120250"><span class="gene">COL6A3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120220"><span class="gene">COL6A1, OPLL</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240"><span class="gene">COL6A2</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=158000">MONILETHRIX</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602153"><span class="gene">KRTHB1, HB1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602765"><span class="gene">KRTHB3, HB3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601928"><span class="gene">KRTHB6, HB6</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157300">MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131243"><span class="gene">EDNRA</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191160"><span class="gene">TNF, TNFA</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430"><span class="gene">ESR1, ESR</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=149730">LADD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934"><span class="gene">FGFR3, ACH</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602115"><span class="gene">FGF10</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943"><span class="gene">FGFR2, BEK, CFD1, JWS</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146200">FIH</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199"><span class="gene">CASR, HHC1, PCAR1, FIH</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603716"><span class="gene">GCMB</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168450"><span class="gene">PTH</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=145750">HYPERTRIGLYCERIDEMIA, FAMILIAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603937"><span class="gene">RP1, ORP1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606368"><span class="gene">APOA5</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609252"><span class="gene">LIPI, LPDL, PRED5</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137760">POAG</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601771"><span class="gene">CYP1B1, GLC3A</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606689"><span class="gene">GLC1B</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602432"><span class="gene">OPTN, GLC1E, FIP2, HYPL, NRP</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137750">GLC1A</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601652"><span class="gene">MYOC, TIGR, GLC1A, JOAG, GPOA</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601771"><span class="gene">CYP1B1, GLC3A</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602575"><span class="gene">LMX1B, NPS1</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136880">FUNDUS ALBIPUNCTATUS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605"><span class="gene">RDS, RP7, PRPH2, PRPH, AVMD, AOFMD</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601617"><span class="gene">RDH5</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180090"><span class="gene">RLBP1</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131800">EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148040"><span class="gene">KRT5, DDD</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557"><span class="gene">ITGB4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148066"><span class="gene">KRT14</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130000">EHLERS-DANLOS SYNDROME, TYPE I</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120190"><span class="gene">COL5A2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120215"><span class="gene">COL5A1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150"><span class="gene">COL1A1</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122700">COUMARIN RESISTANCE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601130"><span class="gene">CYP2C9</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608547"><span class="gene">VKORC1, VKOR, VKCFD2, FLJ00289</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122720"><span class="gene">CYP2A6, CYP2A3, CYP2A, P450C2A</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120200">COLOBOMA, OCULAR</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600725"><span class="gene">SHH, HPE3, HLP3, SMMCI, MCOPCB5</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601147"><span class="gene">GDF6, CDMP2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108"><span class="gene">PAX6, AN2, MGDA</span></a></td></tr> <tr><td rowspan=3>3</td><td rowspan=3><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103780">ALCOHOL DEPENDENCE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137140"><span class="gene">GABRA2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720"><span class="gene">ADH1B, ADH2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182135"><span class="gene">HTR2A</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611581">MOVED TO 601067</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516"><span class="gene">CDH23, USH1D, USH1H</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514"><span class="gene">PCDH15, DFNB23, USH1H</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610799">IPD1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606252"><span class="gene">TIRAP</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606883"><span class="gene">IRAK4, REN64, IPD1</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610424">HEPATITIS B VIRUS, SUSCEPTIBILITY TO</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123889"><span class="gene">CRFB4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602376"><span class="gene">IFNAR2</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609532">HEPATITIS C VIRUS, SUSCEPTIBILITY TO</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151460"><span class="gene">PTPRC, CD45, LCA</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147570"><span class="gene">IFNG, IFG, IFI</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609192">LDS1A</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182"><span class="gene">TGFBR2, HNPCC6, AAT3, MFS2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181"><span class="gene">TGFBR1, ALK5, AAT5</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608579">SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142800"><span class="gene">HLA-A</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142830"><span class="gene">HLA-B, SPDA1</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608415">PERRS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604067"><span class="gene">RGS9, PERRS</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607814"><span class="gene">RGS9BP, R9AP, RGS9, PERRS</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608175">AITD3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610931"><span class="gene">ZFAT1, ZNF406, AITD3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188450"><span class="gene">TG, AITD3</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608161">MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605"><span class="gene">RDS, RP7, PRPH2, PRPH, AVMD, AOFMD</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854"><span class="gene">BEST1, VMD2</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607602">ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139350"><span class="gene">KRT1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148080"><span class="gene">KRT10</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607554">ATFB3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542"><span class="gene">KCNQ1, KCNA9, LQT1, KVLQT1, ATFB1, SQT2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603796"><span class="gene">KCNE2, MIRP1, LQT6</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607459">SANDO</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075"><span class="gene">C10orf2, TWINKLE, PEO1, PEOA3, SANDO</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763"><span class="gene">POLG, POLG1, POLGA, PEO, SANDO, SCAE</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607208">SMEI</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389"><span class="gene">SCN1A, GEFSP2, SMEI, FEB3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137164"><span class="gene">GABRG2, GEFSP3, CAE2, ECA2</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606963">PULMONARY DISEASE, CHRONIC OBSTRUCTIVE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120353"><span class="gene">MMP1, CLG</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400"><span class="gene">PI, AAT, SERPINA1</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606788">ANON1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505"><span class="gene">BDNF</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182135"><span class="gene">HTR2A</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606764">GIST</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920"><span class="gene">KIT, PBT</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490"><span class="gene">PDGFRA</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606690">LAM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605284"><span class="gene">TSC1, LAM</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191092"><span class="gene">TSC2, LAM</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606657">GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605290"><span class="gene">OPA1, NTG, NPG</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602432"><span class="gene">OPTN, GLC1E, FIP2, HYPL, NRP</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606072">RMD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600332"><span class="gene">RMD1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253"><span class="gene">CAV3, LGMD1C</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606054">PROPIONIC ACIDEMIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232050"><span class="gene">PCCB</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232000"><span class="gene">PCCA</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605462">BASAL CELL CARCINOMA, MULTIPLE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603673"><span class="gene">PTCH2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309"><span class="gene">PTCH1, NBCCS, BCNS, HPE7</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605253">NEUROPATHY, CONGENITAL HYPOMYELINATING</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440"><span class="gene">MPZ, CMT1B, CMTDI3, CHM, DSS</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010"><span class="gene">EGR2, KROX20</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605027">LYMPHOMA, NON-HODGKIN, FAMILIAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601762"><span class="gene">CASP10, MCH4, ALPS2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170280"><span class="gene">PRF1, HPLH2, FLH2</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604931">CORTISONE REDUCTASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138090"><span class="gene">H6PD, GDH, G6PDH</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600713"><span class="gene">HSD11B1, HSD11, HSD11L</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604906">SCZD9</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602516"><span class="gene">RGS4, SCZD9</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605210"><span class="gene">DISC1, SCZD9</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604772">CPVT1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114251"><span class="gene">CASQ2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180902"><span class="gene">RYR2, VTSIP, ARVD2, ARVC2</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604367">FPLD3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487"><span class="gene">PPARG, PPARG1, PPARG2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600917"><span class="gene">PPP1R3A, PPP1R3</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604307">CCL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123680"><span class="gene">CRYGC, CRYG3, CCL</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123620"><span class="gene">CRYBB2, CRYB2</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604219">CATARACT, AUTOSOMAL DOMINANT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603212"><span class="gene">BFSP2, CP49, CP47</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154050"><span class="gene">MIP, AQP0</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604091">HYPOALPHALIPOPROTEINEMIA, PRIMARY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046"><span class="gene">ABCA1, ABC1, HDLDT1, TGD</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107680"><span class="gene">APOA1</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602475">OPLL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173335"><span class="gene">ENPP1, PDNP1, NPPS, M6S1, PCA1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120220"><span class="gene">COL6A1, OPLL</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602390">JH</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608374"><span class="gene">HJV, HFE2A</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606464"><span class="gene">HAMP, LEAP1, HEPC, HFE2</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602089">HEMANGIOMA, CAPILLARY INFANTILE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306"><span class="gene">KDR</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352"><span class="gene">FLT4, VEGFR3, PCL</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601544">DFNA3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011"><span class="gene">GJB2, CX26, DFNB1, PPK, DFNA3, KID, HID</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604418"><span class="gene">GJB6, CX30, DFNA3, HED, ED2</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601457">SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179615"><span class="gene">RAG1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179616"><span class="gene">RAG2</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601410">DIABETES MELLITUS, TRANSIENT NEONATAL, 1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606546"><span class="gene">HYMAI</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603044"><span class="gene">PLAGL1, ZAC, LOT1</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601386">DFNB12</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108733"><span class="gene">ATP2B2, PMCA2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516"><span class="gene">CDH23, USH1D, USH1H</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600962">NEPPK</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139350"><span class="gene">KRT1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148067"><span class="gene">KRT16</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600880">BUDD-CHIARI SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227400"><span class="gene">F5</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147796"><span class="gene">JAK2</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600802">SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146661"><span class="gene">IL7R</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186790"><span class="gene">CD3D, T3D</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600794">HMN5</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287"><span class="gene">GARS, SMAD1, CMT2D, HMN5</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606158"><span class="gene">BSCL2, SPG17, HMN5</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600309">AVSD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606215"><span class="gene">AVSD1, AVCD</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121014"><span class="gene">GJA1, CX43, ODDD, SDTY3, ODOD</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600274">FTD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311"><span class="gene">PSEN1, AD3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140"><span class="gene">MAPT, MTBT1, DDPAC, MSTD</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600263">HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107470"><span class="gene">IFNGR1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176891"><span class="gene">PTPRZ1, PTP18</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600101">DFNA2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603324"><span class="gene">GJB3, CX31, DFNA2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603537"><span class="gene">KCNQ4, DFNA2</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312750">RTT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203"><span class="gene">CDKL5, STK9, ISSX</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005"><span class="gene">MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=310200">DMD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159991"><span class="gene">MYF6</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377"><span class="gene">DMD, BMD, CMD3B</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308350">EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382"><span class="gene">ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203"><span class="gene">CDKL5, STK9, ISSX</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303700">CBBM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303800"><span class="gene">OPN1MW, GCP, CBD, CBBM</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303900"><span class="gene">OPN1LW, RCP, CBP, CBBM</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300633">HYPOSPADIAS, X-LINKED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700"><span class="gene">AR, DHTR, TFM, SBMA, KD, SMAX1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300120"><span class="gene">CXorf6, F18</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300009">DENT DISEASE 1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008"><span class="gene">CLCN5, CLCK2, NPHL2, DENTS, NPHL1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300535"><span class="gene">OCRL, LOCR, OCRL1, NPHL2</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277700">WRN</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330"><span class="gene">LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604611"><span class="gene">RECQL2, RECQ3, WRN</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=275355">HNSCC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603612"><span class="gene">TNFRSF10B, DR5, TRAILR2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601566"><span class="gene">ING1</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=275210">TIGHT SKIN CONTRACTURE SYNDROME, LETHAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606480"><span class="gene">ZMPSTE24, FACE1, STE24, MADB</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330"><span class="gene">LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=273300">TESTICULAR TUMORS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920"><span class="gene">KIT, PBT</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216"><span class="gene">STK11, PJS, LKB1</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=266500">REFSUM DISEASE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601757"><span class="gene">PEX7, RCDP1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602026"><span class="gene">PHYH, PAHX</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=261550">PMDS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956"><span class="gene">AMHR2, AMHR</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600957"><span class="gene">AMH, MIF</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=261515">D-BIFUNCTIONAL PROTEIN DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604054"><span class="gene">ACAA1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601860"><span class="gene">HSD17B4</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=261100">MEGALOBLASTIC ANEMIA 1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602997"><span class="gene">CUBN, IFCR, MGA1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605799"><span class="gene">AMN</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=259420">OSTEOGENESIS IMPERFECTA, TYPE III</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160"><span class="gene">COL1A2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150"><span class="gene">COL1A1</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=258100">OGUCHI DISEASE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=181031"><span class="gene">SAG</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381"><span class="gene">GRK1, RHOK, RK</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256700">NEUROBLASTOMA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603851"><span class="gene">PMX2B, NBPHOX, PHOX2B</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156490"><span class="gene">NME1, NM23</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=254780">MYOCLONIC EPILEPSY OF LAFORA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608072"><span class="gene">NHLRC1, EPM2A, EPM2B</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607566"><span class="gene">EPM2A, MELF, EPM2</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=254500">MYELOMA, MULTIPLE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168461"><span class="gene">CCND1, PRAD1, BCL1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837"><span class="gene">LIG4</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253280">MEB</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606822"><span class="gene">POMGNT1, MEB</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596"><span class="gene">FKRP, MDC1C, LGMD2I</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=249700">LANGER MESOMELIC DYSPLASIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865"><span class="gene">SHOX, GCFX, SS, PHOG</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=400020"><span class="gene">SHOXY</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248200">STGD1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691"><span class="gene">ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605080"><span class="gene">CNGB3, ACHM3</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=235400">aHUS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134370"><span class="gene">HF1, CFH, HUS, ARMD4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120920"><span class="gene">MCP, CD46</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232240">GLYCOGEN STORAGE DISEASE Ic</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611034"><span class="gene">SLC17A3, NPT4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671"><span class="gene">G6PT1</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229300">FRDA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601992"><span class="gene">FRDA2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606829"><span class="gene">FXN, FRDA, FARR, X25</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227300">F5F8D</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607788"><span class="gene">MCFD2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601567"><span class="gene">LMAN1, ERGIC53, F5F8D, MCFD1</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=226730">EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147556"><span class="gene">ITGA6</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557"><span class="gene">ITGB4</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=226400">EV</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605828"><span class="gene">EVER1, EV1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605829"><span class="gene">EVER2, EV2</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=225500">EVC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604831"><span class="gene">EVC</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607261"><span class="gene">LBN, EVC2</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=224900">ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606603"><span class="gene">EDARADD, ED3, EDA3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604095"><span class="gene">EDAR, DL, ED3, EDA3</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=223100">LACTASE PERSISTENCE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603202"><span class="gene">LCT, LAC, LPH</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601806"><span class="gene">MCM6</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=221770">PLOSL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605086"><span class="gene">TREM2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604142"><span class="gene">TYROBP, PLOSL, DAP12</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=220400">JLNS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542"><span class="gene">KCNQ1, KCNA9, LQT1, KVLQT1, ATFB1, SQT2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176261"><span class="gene">KCNE1, JLNS, LQT5</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=220200">DWS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608948"><span class="gene">ZIC4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600470"><span class="gene">ZIC1</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219700">CF</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421"><span class="gene">CFTR, ABCC7, CF, MRP7</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190180"><span class="gene">TGFB1, DPD1, CED</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219050">CRYPTORCHIDISM, UNILATERAL OR BILATERAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606655"><span class="gene">LGR8, GREAT</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146738"><span class="gene">INSL3</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219000">FRASER SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607830"><span class="gene">FRAS1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608945"><span class="gene">FREM2</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218040">COSTELLO SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020"><span class="gene">HRAS</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070"><span class="gene">KRAS2, RASK2, NS3</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=215600">CIRRHOSIS, FAMILIAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148060"><span class="gene">KRT8</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148070"><span class="gene">KRT18</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=215150">OSMED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290"><span class="gene">COL11A2, STL3, DFNA13</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140"><span class="gene">COL2A1</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=214800">CHARGE SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608166"><span class="gene">SEMA3E, SEMAH, KIAA0331</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608892"><span class="gene">CHD7, IS3</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=212750">CD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146880"><span class="gene">HLA-DQA1, CELIAC1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604305"><span class="gene">HLA-DQB1, CELIAC1</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=210250">SITOSTEROLEMIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605459"><span class="gene">ABCG5</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460"><span class="gene">ABCG8</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=208550">ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176804"><span class="gene">PTGER2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604895"><span class="gene">TBX21, TBET</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=204700">AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604629"><span class="gene">MMP20</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603767"><span class="gene">KLK4, EMSP1, PRSS17</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203780">ALPORT SYNDROME, AUTOSOMAL RECESSIVE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120070"><span class="gene">COL4A3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120131"><span class="gene">COL4A4</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203450">ALEXANDER DISEASE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=161015"><span class="gene">NDUFV1, UQOR1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137780"><span class="gene">GFAP</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203200">OCA2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409"><span class="gene">OCA2, P, PED, D15S12, BOCA, EYCL3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155555"><span class="gene">MC1R</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=202700">SCN1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600871"><span class="gene">GFI1, ZNF163</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130130"><span class="gene">ELA2</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=202400">AFIBRINOGENEMIA, CONGENITAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820"><span class="gene">FGA</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830"><span class="gene">FGB</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=202300">ADCC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=194071"><span class="gene">MTACR1, WT2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170"><span class="gene">TP53, P53, LFS1</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201710">LIPOID CONGENITAL ADRENAL HYPERPLASIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600617"><span class="gene">STAR</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118485"><span class="gene">CYP11A, P450SCC</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201400">ACTH DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604614"><span class="gene">TBS19</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122560"><span class="gene">CRH</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=194050">WBS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601679"><span class="gene">GTF2I, BAP135, WBS</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604318"><span class="gene">GTF2IRD1, GTF3, MUSTRD1, WBS</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193900">WHITE SPONGE NEVUS OF CANNON</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123940"><span class="gene">KRT4, CYK4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148065"><span class="gene">KRT13</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193300">VHL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608537"><span class="gene">VHL</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168461"><span class="gene">CCND1, PRAD1, BCL1</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190685">DOWN SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156570"><span class="gene">MTR</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305371"><span class="gene">GATA1, GF1, ERYF1, NFE1</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189800">PEE1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=132810"><span class="gene">EPHX1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163729"><span class="gene">NOS3</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=185800">SYM1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602991"><span class="gene">NOG, SYM1, SYNS1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601146"><span class="gene">GDF5, CDMP1, SYNS2</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=181000">SS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606000"><span class="gene">BTNL2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142857"><span class="gene">HLA-DR1B</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180849">RSTS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140"><span class="gene">CREBBP, CBP, RSTS</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602700"><span class="gene">EP300</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180800">ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440"><span class="gene">MPZ, CMT1B, CMTDI3, CHM, DSS</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601097"><span class="gene">PMP22, CMT1A, CMT1E, DSS</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177200">LIDDLE SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600760"><span class="gene">SCNN1B</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600761"><span class="gene">SCNN1G, PHA1</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176270">PWS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602117"><span class="gene">NDN</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182279"><span class="gene">SNRPN</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176200">PORPHYRIA VARIEGATA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600923"><span class="gene">PPOX</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=235200"><span class="gene">HFE, HLA-H, HFE1</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174050">PCLD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608648"><span class="gene">SEC63</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177060"><span class="gene">PRKCSH, G19P1, PCLD</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172700">PICK DISEASE OF BRAIN</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311"><span class="gene">PSEN1, AD3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140"><span class="gene">MAPT, MTBT1, DDPAC, MSTD</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167800">PCTT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167790"><span class="gene">SPINK1, PSTI, PCTT, TATI</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276000"><span class="gene">PRSS1, TRY1</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167210">PC2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148042"><span class="gene">KRT6B, PC2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148069"><span class="gene">KRT17, PC2, PCHC1</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167200">PC1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148041"><span class="gene">KRT6A</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148067"><span class="gene">KRT16</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=166210">OSTEOGENESIS IMPERFECTA, TYPE IIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160"><span class="gene">COL1A2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150"><span class="gene">COL1A1</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=166200">OSTEOGENESIS IMPERFECTA, TYPE I</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160"><span class="gene">COL1A2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150"><span class="gene">COL1A1</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=161550">NASOPHARYNGEAL CARCINOMA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607107"><span class="gene">NPC1, NPCA1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170"><span class="gene">TP53, P53, LFS1</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159900">MYOCLONIC DYSTONIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604149"><span class="gene">SGCE, DYT11</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126450"><span class="gene">DRD2</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=158320">MTS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609309"><span class="gene">MSH2, COCA1, FCC1, HNPCC1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120436"><span class="gene">MLH1, COCA2, HNPCC2</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157640">PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103220"><span class="gene">SLC25A4, ANT1, T1, PEO3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763"><span class="gene">POLG, POLG1, POLGA, PEO, SANDO, SCAE</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155240">MTC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315"><span class="gene">NTRK1, TRKA, MTC</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761"><span class="gene">RET, MEN2A</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151660">FPLD2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330"><span class="gene">LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487"><span class="gene">PPARG, PPARG1, PPARG2</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151623">LFS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600160"><span class="gene">CDKN2A, MTS1, P16, MLM, CMM2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170"><span class="gene">TP53, P53, LFS1</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148700">KERATOSIS PALMOPLANTARIS STRIATA I</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139350"><span class="gene">KRT1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125670"><span class="gene">DSG1</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146110">HYPOGONADOTROPIC HYPOGONADISM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608137"><span class="gene">NELF</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604161"><span class="gene">GPR54</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=145260">PHA2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605232"><span class="gene">WNK1, PRKWNK1, KDP, PHA2C</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601844"><span class="gene">WNK4, PRKWNK4, PHA2B</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=145000">HRPT1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607393"><span class="gene">HRPT2, C1orf28</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100"><span class="gene">MEN1</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=144200">EPPK</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607606"><span class="gene">KRT9, EPPK</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148067"><span class="gene">KRT16</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141749">HBFQTL1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200"><span class="gene">HBG1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250"><span class="gene">HBG2</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135300">GINGF</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182530"><span class="gene">SOS1, GINGF, GF1, HGF, NS4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605544"><span class="gene">GINGF2, GGF2, HGF2</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133200">EKV</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603324"><span class="gene">GJB3, CX31, DFNA2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605425"><span class="gene">GJB4, CX30.3</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=132600">PILOMATRIXOMA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604933"><span class="gene">MUTYH, MYH</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116806"><span class="gene">CTNNB1</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131900">EBS2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148040"><span class="gene">KRT5, DDD</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148066"><span class="gene">KRT14</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131760">EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148040"><span class="gene">KRT5, DDD</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148066"><span class="gene">KRT14</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130060">EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160"><span class="gene">COL1A2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150"><span class="gene">COL1A1</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130020">EHLERS-DANLOS SYNDROME, TYPE III</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120180"><span class="gene">COL3A1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600985"><span class="gene">TNXB, TNX, TNXB1, TNXBS, TNXB2</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129490">HED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606603"><span class="gene">EDARADD, ED3, EDA3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604095"><span class="gene">EDAR, DL, ED3, EDA3</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=127750">DLB</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163890"><span class="gene">SNCA, NACP, PARK1, PARK4</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602569"><span class="gene">SNCB</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=127550">DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602322"><span class="gene">TERC, TRC3, TR</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187270"><span class="gene">TERT, TCS1, EST2</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=127300">LWD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865"><span class="gene">SHOX, GCFX, SS, PHOG</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=400020"><span class="gene">SHOXY</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125850">MODY1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730"><span class="gene">INS</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281"><span class="gene">HNF4A, TCF14, MODY1</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124000">MITOCHONDRIAL COMPLEX III DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647"><span class="gene">BCS1L, FLNMS, GRACILE, BJS, PTD</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191330"><span class="gene">UQCRB, UQBP, QPC</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123700">CUTIS LAXA, AUTOSOMAL DOMINANT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130160"><span class="gene">ELN</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604580"><span class="gene">FBLN5, ARMD3</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123400">CJD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604305"><span class="gene">HLA-DQB1, CELIAC1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640"><span class="gene">PRNP, PRIP</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123150">JWS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350"><span class="gene">FGFR1, FLT2, KAL2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943"><span class="gene">FGFR2, BEK, CFD1, JWS</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122100">CORNEAL DYSTROPHY, JUVENILE EPITHELIAL, OF MEESMANN</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148043"><span class="gene">KRT3</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601687"><span class="gene">KRT12</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122000">PPCD1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120252"><span class="gene">COL8A2, FECD, PPCD2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605020"><span class="gene">VSX1, RINX, PPCD, PPD, KTCN</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=115200">CMD1A</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330"><span class="gene">LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600958"><span class="gene">MYBPC3, CMH4</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114030">CAFE-AU-LAIT SPOTS, MULTIPLE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609309"><span class="gene">MSH2, COCA1, FCC1, HNPCC1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120436"><span class="gene">MLH1, COCA2, HNPCC2</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113900">PFHB1A</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163"><span class="gene">SCN5A, LQT3, IVF, HB1, SSS1, CMD1E, CDCD2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604559"><span class="gene">HB1, PFHB1B, HBN1</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113800">BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139350"><span class="gene">KRT1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148080"><span class="gene">KRT10</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112600">BDA2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248"><span class="gene">BMPR1B, ALK6</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601146"><span class="gene">GDF5, CDMP1, SYNS2</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112500">BDA1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600726"><span class="gene">IHH, BDA1</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607004"><span class="gene">BDA1B</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111400">BLOOD GROUP, P SYSTEM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603094"><span class="gene">B3GALT3, GLCT3, P</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607922"><span class="gene">A4GALT, PK</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107250">ASMD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601094"><span class="gene">FOXE3, FKHL12, ASMD</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602669"><span class="gene">PITX3, CTPP4</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106600">STHAG1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142983"><span class="gene">MSX1, HOX7, HYD1, OFC5</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167416"><span class="gene">PAX9</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106300">SPDA1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142800"><span class="gene">HLA-A</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142830"><span class="gene">HLA-B, SPDA1</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105830">AS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601623"><span class="gene">UBE3A, ANCR</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005"><span class="gene">MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105650">DBA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606129"><span class="gene">DBA2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603474"><span class="gene">RPS19, DBA</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105200">AMYLOIDOSIS, FAMILIAL VISCERAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820"><span class="gene">FGA</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153450"><span class="gene">LYZ</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103470">ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845"><span class="gene">MITF, WS2A</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606933"><span class="gene">TYR</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102530">GLOBOZOOSPERMIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609856"><span class="gene">SPATA16</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606845"><span class="gene">GOPC, PIST, FIG, CAL</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102200">PITUITARY ADENOMA, GROWTH HORMONE-SECRETING</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182455"><span class="gene">SSTR5</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320"><span class="gene">GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=101600">PFEIFFER SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350"><span class="gene">FGFR1, FLT2, KAL2</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943"><span class="gene">FGFR2, BEK, CFD1, JWS</span></a></td></tr> <tr><td rowspan=2>2</td><td rowspan=2><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=101400">SCS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601622"><span class="gene">TWIST, ACS3, SCS</span></a></td></tr> <tr><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943"><span class="gene">FGFR2, BEK, CFD1, JWS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611638">MCOPCB5</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600725"><span class="gene">SHH, HPE3, HLP3, SMMCI, MCOPCB5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611603">LIS3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529"><span class="gene">TUBA1A, TUBA3, LIS3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611590">RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270"><span class="gene">SLC4A1, AE1, EPB3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611584">WS2E</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602229"><span class="gene">SOX10, WS4, WS2E</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611556">GLYCOGEN STORAGE DISEASE 0, MUSCLE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138570"><span class="gene">GYS1, GYS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611554">LEOPARD SYNDROME 2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760"><span class="gene">RAF1, CRAF, NS5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611553">NS5</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760"><span class="gene">RAF1, CRAF, NS5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611548">POF5</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610934"><span class="gene">NOBOX, POF5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611547">STQTL9</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600698"><span class="gene">HMGA2, HMGIC, BABL, LIPO, STQTL9</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611544">CATCN3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600929"><span class="gene">CRYBB1, CATCN3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611528">ARVD12</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173325"><span class="gene">JUP, DP3, PDGB, ARVD12</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611523">PCH6</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611524"><span class="gene">RARS2, RARSL, PCH6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611498">NPHP7</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608539"><span class="gene">GLIS2, NPHP7</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611497">OPTB6</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611466"><span class="gene">PLEKHM1, AP162, KIAA0356, OPTB6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611490">OPTB4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727"><span class="gene">CLCN7, CLC7, OPTA2, OPTB4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611489">CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500"><span class="gene">CBG, SERPINA6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611488">ARMD10</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603030"><span class="gene">TLR4, ARMD10</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611431">NFLS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609291"><span class="gene">SPRED1, NFLS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611407">CMD1W</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193065"><span class="gene">VCL, CMD1W</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611391">CATARACT, CORTICAL, JUVENILE-ONSET</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603307"><span class="gene">BFSP1, CP115</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611383">USH2D</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607928"><span class="gene">WHRN, CIP98, KIAA1526, DFNB31, USH2D</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611378">ARMD9</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120700"><span class="gene">C3, ARMD9</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611369">LCCS3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606102"><span class="gene">PIP5K1C, LCCS3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611363">ASD4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606061"><span class="gene">TBX20, ASD4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611283">ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773"><span class="gene">ACAD8</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611277">FEB8</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137164"><span class="gene">GABRG2, GEFSP3, CAE2, ECA2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611263">ATD2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611177"><span class="gene">IFT80, KIAA1374, WDR56, ATD2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611228">CMT4J</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609390"><span class="gene">FIG4, KIAA0274, SAC3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611209">CDG2G</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606973"><span class="gene">COG1, LDLB, KIAA1381, CDG2G</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611182">CDG2H</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606979"><span class="gene">COG8, DOR1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611136">ECA4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137160"><span class="gene">GABRA1, EJM, ECA4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611134">MKS4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610142"><span class="gene">CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611131">RETINITIS PIGMENTOSA 37</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485"><span class="gene">NR2E3, PNR, ESCS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611126">ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611103"><span class="gene">ACAD9</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611105">LBSL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610956"><span class="gene">DARS2, ASPRS. LBSL</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611092">MRT6</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138244"><span class="gene">GRIK2, GLUR6, MRT6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611087">PMSE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608626"><span class="gene">LYK5, PMSE</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611081">IBD10</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610767"><span class="gene">ATG16L1, APG16L, IBD10</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611067">DSMA4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611101"><span class="gene">PLEKHG5, KIAA0720, DSMA4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611064">ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604459"><span class="gene">IRAK3, IRAKM, ASRT5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611022">DFNB24</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179410"><span class="gene">RDX, DFNB24</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611016">AUTS10</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131310"><span class="gene">EN2, AUTS10</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611015">AUTS9</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164860"><span class="gene">MET, AUTS9</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611014">HYT8</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611005"><span class="gene">MEX3C, RKHD2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610992">PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610936"><span class="gene">PSAT1, PSAT, EPIP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610978">CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600635"><span class="gene">TITF1, NKX2A, TTF1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610965">XFE PROGEROID SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133520"><span class="gene">ERCC4, XPF</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610954">PTHS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272"><span class="gene">TCF4, SEF2, ITF2, PTHS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610951">CLN7</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611124"><span class="gene">MFSD8, MGC33302</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610947">ADCAD2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603507"><span class="gene">LRP6, ADCAD2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610938">CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173510"><span class="gene">CD36, CHDS7</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610927">SLEB9</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120650"><span class="gene">CR2, C3DR, SLEB9</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610921">SMDP3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615"><span class="gene">ABCA3, ABC3, SMDP3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610915">OSTEOGENESIS IMPERFECTA, TYPE VIII</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610339"><span class="gene">LEPRE1, P3H1, GROS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610913">SMDP2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620"><span class="gene">SFTPC, SFTP2, SMDP2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610905">AGS5</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609"><span class="gene">TREX1, AGS1, AGS5, CRV, HERNS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610896">BOR2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600963"><span class="gene">SIX5, DMAHP, BOR2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610878">VUR2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602431"><span class="gene">ROBO2, SAX3, KIAA1568</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610854">OSTEOGENESIS IMPERFECTA, TYPE IIB</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605497"><span class="gene">CRTAP, CASP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610852">CILIARY DYSKINESIA, PRIMARY, 6</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607421"><span class="gene">TXNDC3, SPTRX2, CILD6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610842">PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137167"><span class="gene">GGCX</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610832">FANCONI ANEMIA, COMPLEMENTATION GROUP N</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610355"><span class="gene">PALB2, FANCN</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610829">HPE9</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=165230"><span class="gene">GLI2, HPE9</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610828">HPE7</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309"><span class="gene">PTCH1, NBCCS, BCNS, HPE7</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610798">IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610389"><span class="gene">MAPBPIP, p14</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610773">MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600370"><span class="gene">SLC25A3, PHC</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610768">CDG1M</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610746"><span class="gene">TMEM15, DK1, SEC59, KIAA1094</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610765">ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606797"><span class="gene">ST14, MTSP1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610759">CDLS3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606062"><span class="gene">CSPG6, SMC3, HCAP, BAM, CDLS3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610758">COFS4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126380"><span class="gene">ERCC1, UV20, COFS4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610756">COFS2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340"><span class="gene">ERCC2, EM9, XPD, COFS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610755">MEN4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600778"><span class="gene">CDKN1B, KIP1, CDKN4, MEN4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610743">SCAR8</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608441"><span class="gene">SYNE1, KIAA0796, KIAA1756, KIAA1262, SCAR8</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610738">SCN3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605998"><span class="gene">HAX1, SCN3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610733">NS4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182530"><span class="gene">SOS1, GINGF, GF1, HGF, NS4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610725">NPHS3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414"><span class="gene">PLCE1, KIAA1516, NPHS3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610717">NLSDM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609059"><span class="gene">PNPLA2, TTS2, ATGL</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610713">BRACHYDACTYLY-SYNDACTYLY SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142989"><span class="gene">HOXD13, HOX4I, SPD, BDSD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610706">DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164950"><span class="gene">FGF3, INT2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610698">ARMD4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134370"><span class="gene">HF1, CFH, HUS, ARMD4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610688">JBTS6</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609884"><span class="gene">TMEM67, MKS3, JBTS6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610687">NEM7</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601443"><span class="gene">CFL2, NEM7</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610682">OSTEOGENESIS IMPERFECTA, TYPE VII</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605497"><span class="gene">CRTAP, CASP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610678">COXPD4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602389"><span class="gene">TUFM, EFTU, COXPD4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610676">AUTS7</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610676"><span class="gene">AUTS7</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610651">XPB</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133510"><span class="gene">ERCC3, XPB</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610629">DIAMOND-BLACKFAN ANEMIA 3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602412"><span class="gene">RPS24, DBA3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610628">KAL4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607002"><span class="gene">PROK2, PK2, BV8, KAL4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610623">CTPP4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602669"><span class="gene">PITX3, CTPP4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610618">HAE III</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610619"><span class="gene">F12, HAF, HAE3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610612">LCA12</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180040"><span class="gene">C1orf36, RD3, LCA12</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610600">CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124080"><span class="gene">CYP11B2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610599">RP36</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610598"><span class="gene">PRCD, RP36</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610582">DIABETES MELLITUS, TRANSIENT NEONATAL, 3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937"><span class="gene">KCNJ11, BIR, PHHI, HHF2, TNDM3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610551">HERPES SIMPLEX ENCEPHALITIS, UNC93B-DEFICIENT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608204"><span class="gene">UNC93B1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610549">DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670"><span class="gene">INSR, HHF5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610539">GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176801"><span class="gene">PSAP, SAP1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610532">LEUKODYSTROPHY, HYPOMYELINATING, 5</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610531"><span class="gene">FAM126A, DRCTNNB1A</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610508">MODY7</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603301"><span class="gene">KLF11, TIEG2, FKLF1, FKLF, MODY7</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610505">COXPD3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604723"><span class="gene">TSFM, COXPD3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610504">PPROM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600943"><span class="gene">CBP2, SERPINH2, PPROM</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610498">COXPD2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609204"><span class="gene">MRPS16, COXPD2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610489">PPNAD1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188830"><span class="gene">PRKAR1A, TSE1, CNC1, CAR, PPNAD1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610478">RCD4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608171"><span class="gene">CACNA2D4, RCD4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610476">ARVD11</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125645"><span class="gene">DSC2, DSC3, ARVD11</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610475">PPNAD2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604961"><span class="gene">PDE11A, PDE11A1, PDE11A2, PDE11A3, PPNAD2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610474">CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934"><span class="gene">FGFR3, ACH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610460">THIOPURINE S-METHYLTRANSFERASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187680"><span class="gene">TPMT</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610455">NFTC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610456"><span class="gene">SAMD9, NFTC</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610448">CHBL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609"><span class="gene">TREX1, AGS1, AGS5, CRV, HERNS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610441">TESTICULAR MICROLITHIASIS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604217"><span class="gene">SLC34A2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610427">CSNB2B</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608965"><span class="gene">CABP4, CSNB2B</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610426">MICROPHTHALMIA, ISOLATED, WITH CATARACT 4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123631"><span class="gene">CRYBA4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610425">CATARACT, LAMELLAR 2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123631"><span class="gene">CRYBA4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610381">CORD11</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610362"><span class="gene">RAXL1, QRX, CORD11, ARMD6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610380">LDS2B</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181"><span class="gene">TGFBR1, ALK5, AAT5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610379">WEST NILE VIRUS, SUSCEPTIBILITY TO</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601373"><span class="gene">CMKBR5, CCCKR5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610374">DIABETES MELLITUS, TRANSIENT NEONATAL, 2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509"><span class="gene">ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610353">EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118502"><span class="gene">CHRNA2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610333">AGS4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606034"><span class="gene">RNASEH2A, RNHIA, AGS4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610329">AGS3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610330"><span class="gene">RNASEH2C, AYP1, FLJ20974</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610313">CISS2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607672"><span class="gene">CLCF1, BSF3, CLC</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610297">PARK13</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606441"><span class="gene">HTRA2, OMI, PARK13, PRSS25</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610293">GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610273"><span class="gene">PIGM</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610283">CORD10</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607292"><span class="gene">SEMA4A, SEMB, RP35, CORD10</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610282">RP35</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607292"><span class="gene">SEMA4A, SEMB, RP35, CORD10</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610265">DFNB67</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602427"><span class="gene">TBX6, DFNB67</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610256">APHAKIA, CONGENITAL PRIMARY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601094"><span class="gene">FOXE3, FKHL12, ASMD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610253">CHROMOSOME 9q34.3 DELETION SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607001"><span class="gene">EHMT1, EUHMTASE1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610250">SPG31</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609139"><span class="gene">REEP1, C2ORF23, SPG31</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610247">ESOPHAGITIS, EOSINOPHILIC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604697"><span class="gene">CCL26, SCYA26</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610244">SPG33</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610243"><span class="gene">ZFYVE27, SPG33</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610233">HHS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601756"><span class="gene">GALNT3, HHS, HFTC</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610227">SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610226"><span class="gene">ZNF750, FLJ13841</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610220">DFNB59</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610219"><span class="gene">PJVK, DFNB59</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610217">NBIA2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604"><span class="gene">PLA2G6, IPLA2, INAD1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610205">ALGS2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600275"><span class="gene">NOTCH2, AGS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610202">CATARACT, PULVERULENT, JUVENILE-ONSET</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177075"><span class="gene">MAF</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610199">DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610192"><span class="gene">GLIS3, ZNF515</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610198">3-@METHYLGLUTACONIC ACIDURIA, TYPE V</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608977"><span class="gene">DNAJC19, TIM14</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610193">ARVD10</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125671"><span class="gene">DSG2, ARVD10, ARVC10</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610189">SLSN6</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610142"><span class="gene">CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610188">JBTS5</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610142"><span class="gene">CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610187">DIAPHRAGMATIC HERNIA 3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603693"><span class="gene">ZFPM2, FOG2, DIH3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610168">LDS1B</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181"><span class="gene">TGFBR1, ALK5, AAT5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610163">IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186780"><span class="gene">CD247, CD3Z, TCRZ</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610155">IDDM19</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606951"><span class="gene">IFIH1, MDA5, IDDM19</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610153">DFNB49</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610572"><span class="gene">MARVELD2, MARVD2, TRIC, DFNB49</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610149">ARMD7</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602194"><span class="gene">HTRA1, PRSS11, ARMD7</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610141">QT INTERVAL, VARIATION IN</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605551"><span class="gene">NOS1AP, CAPON, KIAA0464</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610131">PEOA4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604983"><span class="gene">POLG2, POLGB, PEOA4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610127">CLN10</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840"><span class="gene">CTSD, CPSD, CLN10</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610125">MCOPS5</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600037"><span class="gene">OTX2, MCOPS5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610102">COMPLEMENT COMPONENT 7 DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217070"><span class="gene">C7</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610093">MCOP2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142993"><span class="gene">CHX10, HOX10, MCOP2, MCOPCB3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610092">MCOPCB3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142993"><span class="gene">CHX10, HOX10, MCOP2, MCOPCB3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610090">PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603287"><span class="gene">PNPO</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610069">HMPS2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299"><span class="gene">BMPR1A, ACVRLK3, ALK3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610048">CSCD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125255"><span class="gene">DCN, CSCD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610042">CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604569"><span class="gene">CNTNAP2, CASPR2, NRXN4, CDFE</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610024">RCD3A</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601190"><span class="gene">PDE6H, RCD3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610017">SYNS2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601146"><span class="gene">GDF5, CDMP1, SYNS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610015">GLUTAMINE DEFICIENCY, CONGENITAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138290"><span class="gene">GLUL, GLNS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610006">2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301"><span class="gene">ACADSB, SBCAD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610003">CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607837"><span class="gene">CLN8, EPMR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609975">HHF4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601609"><span class="gene">HADHSC, SCHAD, HHF4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609968">HHF5</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670"><span class="gene">INSR, HHF5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609942">NOONAN SYNDROME 3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070"><span class="gene">KRAS2, RASK2, NS3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609924">AMINOACYLASE 1 DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104620"><span class="gene">ACY1, ACY1D</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609923">RP31</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609507"><span class="gene">TOPORS, P53BP3, LUN, RP31</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609909">CMD1P</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172405"><span class="gene">PLN, PLB, CMD1P</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609889">ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179615"><span class="gene">RAG1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609887">GLC1G</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609669"><span class="gene">WDR36, TAWDRP, GLC1G</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609886">GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845"><span class="gene">UMOD, HNFJ, FJHN, MCKD2, ADMCKD2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609823">DFNB28</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609761"><span class="gene">TRIOBP, KIAA1662</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609821">BLEEDING DISORDER DUE TO P2RY12 DEFECT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600515"><span class="gene">P2RY12, P2Y12</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609820">ERYTHROCYTOSIS, FAMILIAL, 3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606425"><span class="gene">EGLN1, PHD2, HIFPH2, C1orf12, ZMYND6, SM20, ECYT3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609814">COMPLEMENT FACTOR H DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134370"><span class="gene">HF1, CFH, HUS, ARMD4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609813">SCDO3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602576"><span class="gene">LFNG, SCDO3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609812">MODY8</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114840"><span class="gene">CEL, BSSL, CELL, MODY8</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609796">PEELING SKIN SYNDROME, ACRAL TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603805"><span class="gene">TGM6, TGX</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609755">CELIAC3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123890"><span class="gene">CTLA4, IDDM12, CELIAC3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609753">CELIAC4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602129"><span class="gene">MYO9B, MYR5, CELIAC4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609741">CATCN2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123630"><span class="gene">CRYBB3, CRYB3, CATCN2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609698">THYROID HORMONE METABOLISM, ABNORMAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607693"><span class="gene">SECISBP2, SBP2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609638">EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125647"><span class="gene">DSP, KPPS2, PPKS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609637">HPE5</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603073"><span class="gene">ZIC2, HPE5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609634">FHM3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389"><span class="gene">SCN1A, GEFSP2, SMEI, FEB3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609622">SQT3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600681"><span class="gene">KCNJ2, HHIRK1, KIR2.1, IRK1, LQT7, SQT3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609621">SQT2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542"><span class="gene">KCNQ1, KCNA9, LQT1, KVLQT1, ATFB1, SQT2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609620">SQT1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427"><span class="gene">KCNH2, LQT2, HERG, SQT1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609597">PFM2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605420"><span class="gene">ALX4, PFM2, FPP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609583">JBTS4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607100"><span class="gene">NPHP1, NPH1, SLSN1, JBTS4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609533">DFNB23</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514"><span class="gene">PCDH15, DFNB23, USH1H</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609529">IGAD2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604907"><span class="gene">TNFRSF13B, TACI, CVID</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609528">CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604202"><span class="gene">SNAP29, CEDNIK</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609464">SARCOIDOSIS, EARLY-ONSET</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605956"><span class="gene">NOD2, CARD15, IBD1, CD, ACUG, PSORAS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609460">GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609367"><span class="gene">KIAA1279</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609452">MYOPATHY, MYOFIBRILLAR, ZASP-RELATED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906"><span class="gene">LDB3, ZASP, CYPHER, KIAA01613</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609446">GEPD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600150"><span class="gene">KCNMA1, SLO</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609311">CMT4H</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611104"><span class="gene">FGD4, FRABIN</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609310">HNPCC2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120436"><span class="gene">MLH1, COCA2, HNPCC2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609308">LGMD2K</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423"><span class="gene">POMT1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609307">SCA27</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601515"><span class="gene">FGF14, FHF4, SCA27</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609304">EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609302"><span class="gene">SLC25A22, GC1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609286">PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075"><span class="gene">C10orf2, TWINKLE, PEO1, PEOA3, SANDO</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609265">LFS2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604373"><span class="gene">CHEK2, RAD53, CHK2, CDS1, LFS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609260">CMT2A2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507"><span class="gene">MFN2, KIAA0214, CMT2A2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609254">SLSN5</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609237"><span class="gene">IQCB1, NPHP5, KIAA0036</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609242">KANZAKI DISEASE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104170"><span class="gene">NAGA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609241">SCHINDLER DISEASE, TYPE I</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104170"><span class="gene">NAGA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609227">GS3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606526"><span class="gene">MLPH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609220">BRUCK SYNDROME 2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601865"><span class="gene">PLOD2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609200">MYOTILINOPATHY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103"><span class="gene">TTID, MYOT</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609180">CDG1F</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604041"><span class="gene">MPDU1, SL15, CDGIF</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609152">HYPERTHYROIDISM, NONAUTOIMMUNE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372"><span class="gene">TSHR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609141">PPCD3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189909"><span class="gene">TCF8, PPCD3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609136">PCWH</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602229"><span class="gene">SOX10, WS4, WS2E</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609069">DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607194"><span class="gene">PTF1A</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609060">COXPD1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606639"><span class="gene">GFM1, EFG1, GFM, COXPD1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609057">NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602243"><span class="gene">CD151, PETA3, SFA1, MER2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609056">AMISH INFANTILE EPILEPSY SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604402"><span class="gene">SIAT9, ST3GALV</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609054">FANCONI ANEMIA, COMPLEMENTATION GROUP J</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605882"><span class="gene">BRIP1, BACH1, FANCJ</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609049">PIERSON SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150325"><span class="gene">LAMB2, LAMS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609048">CMM3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123829"><span class="gene">CDK4, CMM3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609040">ARVD9</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602861"><span class="gene">PKP2, ARVD9</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609006">DFNB36</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606351"><span class="gene">ESPN</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608996">POF3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605597"><span class="gene">FOXL2, BPES, BPES1, PFRK, POF3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608983">CCA3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123690"><span class="gene">CRYGD, CRYG4, CCP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608967">LDS2A</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182"><span class="gene">TGFBR2, HNPCC6, AAT3, MFS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608957">CD8 DEFICIENCY, FAMILIAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186910"><span class="gene">CD8A</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608898">FHL3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608897"><span class="gene">UNC13D, MUNC13-4, HPLH3, HLH3, FHL3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608895">ARMD3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604580"><span class="gene">FBLN5, ARMD3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608890">WAARDENBURG SYNDROME, TYPE IID</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602150"><span class="gene">SNAI2, SLUG, WS2D</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608874">OROFACIAL CLEFT 5</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142983"><span class="gene">MSX1, HOX7, HYD1, OFC5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608864">OROFACIAL CLEFT 6, SUSCEPTIBILITY TO</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607199"><span class="gene">IRF6, VWS, LPS, PIT, PPS, OFC6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608840">MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603590"><span class="gene">LARGE, KIAA0609, MDC1D</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608837">CARNEY COMPLEX VARIANT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160741"><span class="gene">MYH8</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608836">CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600650"><span class="gene">CPT2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608810">ALPHA-B CRYSTALLINOPATHY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123590"><span class="gene">CRYAB, CRYA2, CTPP2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608808">DTGA1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608771"><span class="gene">THRAP2, PROSIT240, TRAP240L, KIAA1025</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608807">LGMD2J</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840"><span class="gene">TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608805">AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140"><span class="gene">COL2A1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608804">LEUKODYSTROPHY, HYPOMYELINATING, 2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608803"><span class="gene">GJC2, GJA12, CX47, PMLDAR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608800">SIDDT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604714"><span class="gene">TSPYL1, TSPYL, SIDDT</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608799">CDG1E</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603503"><span class="gene">DPM1, MPDS, CDGIE</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608782">PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605993"><span class="gene">PPM2C, PDP1, PDPC</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608779">CDG2E</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606978"><span class="gene">COG7, CDG2E</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608776">CDG1L</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606941"><span class="gene">ALG9, DIBD1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608768">SCA8</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603680"><span class="gene">SCA8</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608765">IS3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608892"><span class="gene">CHD7, IS3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608758">CMH10</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160781"><span class="gene">MYL2, CMH10</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608751">CMH8</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160790"><span class="gene">MYL3, CMH8</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608747">INSULIN-LIKE GROWTH FACTOR I DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147440"><span class="gene">IGF1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608728">SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109"><span class="gene">MATN3, EDM5, HOA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608716">MCPH5</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605481"><span class="gene">ASPM, MCPH5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608709">BARRAQUER-SIMONS SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150341"><span class="gene">LMNB2, LMN2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608688">AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE, DEFICIENCY OF</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601731"><span class="gene">ATIC, PURH, AICAR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608681">SCDO2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605195"><span class="gene">MESP2, SCDO2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608673">CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014"><span class="gene">HSPB8, H11, E2IG1, DHMN2, CMT2L, HMN2A</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608654">HSAN5</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162030"><span class="gene">NGFB, HSAN5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608644">CILIARY DYSKINESIA, PRIMARY, 3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603335"><span class="gene">DNAH5, HL1, PCD, CILD3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608643">AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930"><span class="gene">DDC</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608641">DFNA28</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608576"><span class="gene">TFCP2L3, DFNA28</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608637">SPONDYLOEPIPHYSEAL DYSPLASIA, CHST3-RELATED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603799"><span class="gene">CHST3, C6ST, C6ST1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608634">HMN2B</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195"><span class="gene">HSPB1, HSP27, CMT2F, HMN2B</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608629">JBTS3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608894"><span class="gene">AHI1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608627">ALS8</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605704"><span class="gene">VAPB, VAPC, ALS8</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608623">MOVED TO 276300</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600259"><span class="gene">PMS2, PMSL2, HNPCC4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608622">HYPERTENSION, DIASTOLIC, RESISTANCE TO</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603951"><span class="gene">KCNMB1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608615">OLIGODONTIA-COLORECTAL CANCER SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604025"><span class="gene">AXIN2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608612">MADB</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606480"><span class="gene">ZMPSTE24, FACE1, STE24, MADB</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608611">RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180430"><span class="gene">RPIA, RPI</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608594">CGL1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603100"><span class="gene">AGPAT2, LPAAB, BSCL, BSCL1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608584">ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608595"><span class="gene">GPR154, GPRA, VRR1, PGR14, ASRT2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608569">CMD1O</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439"><span class="gene">ABCC9, SUR2, CMD1O</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608567">SSS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163"><span class="gene">SCN5A, LQT3, IVF, HB1, SSS1, CMD1E, CDCD2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608563">MOVED TO 204650</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606585"><span class="gene">ENAM, AIH2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608556">LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603031"><span class="gene">TLR5, TIL3, SLEB1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608540">CDG1K</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605907"><span class="gene">ALG1, HMAT1, HMT1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608471">CDL3A</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692"><span class="gene">TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608470">CDB1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692"><span class="gene">TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608456">COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604933"><span class="gene">MUTYH, MYH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608443">MRT3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610055"><span class="gene">CC2D1A, MRT3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608404">PLATELET GLYCOPROTEIN IV DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173510"><span class="gene">CD36, CHDS7</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608395">KARAK SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604"><span class="gene">PLA2G6, IPLA2, INAD1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608393">MCPH6</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609279"><span class="gene">CEMPJ, CPAP, MCPH6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608390">MYOTONIA, POTASSIUM-AGGRAVATED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967"><span class="gene">SCN4A, HYPP, NAC1A</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608389">BOS3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601205"><span class="gene">SIX1, BOS3, DFNA23</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608380">RP26</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608381"><span class="gene">CERKL</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608361">SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155760"><span class="gene">AGC1, CSPG1, MSK16, SEDK</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608358">MYOPATHY, MYOSIN STORAGE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760"><span class="gene">MYH7, CMH1, MPD1, CMD1S</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608355">PARKES WEBER SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139150"><span class="gene">RASA1, GAP, CMAVM, PKWS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608354">CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139150"><span class="gene">RASA1, GAP, CMAVM, PKWS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608328">WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797"><span class="gene">FBN1, MFS1, WMS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608323">CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603623"><span class="gene">YARS, CMTDIC, TYRRS, YTS, YRS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608320">ADCAD1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600660"><span class="gene">MEF2A, ADCAD1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608266">PARATHYROID CARCINOMA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607393"><span class="gene">HRPT2, C1orf28</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608236">SLOWED NERVE CONDUCTION VELOCITY, AUTOSOMAL DOMINANT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608136"><span class="gene">ARHGEF10, KIAA0294</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608233">HPS2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603401"><span class="gene">AP3B1, ADTB3A, HPS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608232">CML</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151410"><span class="gene">BCR, CML, PHL, ALL</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608203">NEUTROPHIL IMMUNODEFICIENCY SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049"><span class="gene">RAC2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608194">CORD9</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605446"><span class="gene">RPGRIP1, LCA6, CORD9</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608189">TROPICAL CALCIFIC PANCREATITIS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167790"><span class="gene">SPINK1, PSTI, PCTT, TATI</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608180">SPD2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135820"><span class="gene">FBLN1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608133">RP7</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605"><span class="gene">RDS, RP7, PRPH2, PRPH, AVMD, AOFMD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608115">OVARIAN HYPERSTIMULATION SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435"><span class="gene">FSHR, ODG1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608106">IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191525"><span class="gene">UNG, DGU, HIGM4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608104">CDG1H</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608103"><span class="gene">ALG8</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608099">LGMD2D</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600119"><span class="gene">SGCA, ADL, DAG2, LGMD2D, DMDA2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608097">HETEROTOPIA, PERIVENTRICULAR, AUTOSOMAL RECESSIVE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605371"><span class="gene">ARFGEF2, BIG2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608093">CDG1J</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191350"><span class="gene">DPAGT2, DGPT</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608056">LDHCP</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330"><span class="gene">LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608053">ETFA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611360"><span class="gene">FANCI, KIAA1794</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608013">GAUCHER DISEASE, PERINATAL LETHAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463"><span class="gene">GBA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607941">ASD2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600576"><span class="gene">GATA4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607921">RP30</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607643"><span class="gene">FSCN2, RFSN</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607920">CARDIOMYOPATHY, DILATED, WITH QUADRICEPS MYOPATHY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330"><span class="gene">LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607906">CDG1I</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607905"><span class="gene">ALG2, CDGII</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607903">LAH</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607892"><span class="gene">DSG4, LAH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607864">CAUDAL DUPLICATION ANOMALY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603816"><span class="gene">AXIN1, AXIN</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607855">MDC1A</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156225"><span class="gene">LAMA2, LAMM</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607850">OS3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109"><span class="gene">MATN3, EDM5, HOA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607847">NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600871"><span class="gene">GFI1, ZNF163</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607841">DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478"><span class="gene">MYO1A, DFNA48</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607836">AIS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611539"><span class="gene">FOXD3, AIS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607834">NEUROTICISM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182138"><span class="gene">SLC6A4, HTT, OCD1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607832">FSGS3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604241"><span class="gene">CD2AP, CMS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607831">CMT2K</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598"><span class="gene">GDAP1, CMT4A, CMT2K, CMT2G</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607823">HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601618"><span class="gene">SOX18, HLTS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607822">ALZHEIMER DISEASE 3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311"><span class="gene">PSEN1, AD3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607821">DFNB37</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970"><span class="gene">MYO6, DFNA22, DFNB37</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607812">CLSD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610511"><span class="gene">SEC23A, CLSD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607801">LGMD1C</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253"><span class="gene">CAV3, LGMD1C</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607791">CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440"><span class="gene">MPZ, CMT1B, CMTDI3, CHM, DSS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607778">ACFD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600726"><span class="gene">IHH, BDA1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607765">BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607764"><span class="gene">HSD3B7, PFIC4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607745">SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182390"><span class="gene">SCN2A1, SCN2A</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607736">CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440"><span class="gene">MPZ, CMT1B, CMTDI3, CHM, DSS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607734">CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162280"><span class="gene">NEFL, CMT2E, CMT1F</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607706">CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598"><span class="gene">GDAP1, CMT4A, CMT2K, CMT2G</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607689">ANDERSON DISEASE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690"><span class="gene">SARA2, SAR1B, CMRD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607685">HES</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490"><span class="gene">PDGFRA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607684">CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162280"><span class="gene">NEFL, CMT2E, CMT1F</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607682">EPILEPSY, CHILDHOOD ABSENCE, 3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570"><span class="gene">CLCN2, EGMA, ECA3, EGI3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607681">EPILEPSY, CHILDHOOD ABSENCE, 2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137164"><span class="gene">GABRG2, GEFSP3, CAE2, ECA2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607678">CMT1D</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010"><span class="gene">EGR2, KROX20</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607677">CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440"><span class="gene">MPZ, CMT1B, CMTDI3, CHM, DSS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607676">IRAK4 DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606883"><span class="gene">IRAK4, REN64, IPD1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607655">SKIN FRAGILITY-WOOLLY HAIR SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125647"><span class="gene">DSP, KPPS2, PPKS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607654">KERATOSIS PALMOPLANTARIS STRIATA III</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139350"><span class="gene">KRT1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607641">HMN7B</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143"><span class="gene">DCTN1, HMN7B</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607636">VAN BUCHEM DISEASE, TYPE 2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603506"><span class="gene">LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607634">OPTA1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603506"><span class="gene">LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607631">JAE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570"><span class="gene">CLCN2, EGMA, ECA3, EGI3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607628">EPILEPSY WITH GRAND MAL SEIZURES ON AWAKENING</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570"><span class="gene">CLCN2, EGMA, ECA3, EGI3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607626">ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603718"><span class="gene">CLDN1, SEMP1, ILVASC</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607625">NIEMANN-PICK DISEASE, TYPE C2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601015"><span class="gene">NPC2, HE1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607624">GS2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868"><span class="gene">RAB27A, RAM, GS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607616">NIEMANN-PICK DISEASE, TYPE B</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608"><span class="gene">SMPD1, NPD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607598">LCCS2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190151"><span class="gene">ERBB3, LCCS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607595">BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120130"><span class="gene">COL4A1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607594">ICOS DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604558"><span class="gene">ICOS, AILIM</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607572">LEPROSY, SUSCEPTIBILITY TO, 2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544"><span class="gene">PRKN, PARK2, PDJ, LPRS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607541">CDA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692"><span class="gene">TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607523">TOENAIL DYSTROPHY, ISOLATED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120"><span class="gene">COL7A1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607507">PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605956"><span class="gene">NOD2, CARD15, IBD1, CD, ACUG, PSORAS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607499">BULN1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505"><span class="gene">BDNF</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607487">CMD1N</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604488"><span class="gene">TCAP, LGMD2G, CMD1N</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607486">KN</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120620"><span class="gene">CR1, C3BR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607485">FTLDU</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138945"><span class="gene">GRN</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607483">BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606152"><span class="gene">SLC19A3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607482">CMD1M</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600824"><span class="gene">CSRP3, CRP3, CLP, CMD1M</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607476">NFRCD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180090"><span class="gene">RLBP1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607475">BOTHNIA RETINAL DYSTROPHY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180090"><span class="gene">RLBP1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607473">VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608547"><span class="gene">VKORC1, VKOR, VKCFD2, FLJ00289</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607457">GIL BLOOD GROUP</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600170"><span class="gene">AQP3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607453">DFNA44</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611051"><span class="gene">CCDC50, C3orf6, DFNA44</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607450">ARVD8</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125647"><span class="gene">DSP, KPPS2, PPKS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607432">LIS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601545"><span class="gene">PAFAH1B1, LIS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607417">MRT2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609262"><span class="gene">CRBN, MRT2A</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607398">GCCD2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609196"><span class="gene">MRAP, FALP, C21orf61, GCCD2, FGD2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607364">BARTTER SYNDROME, TYPE 3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023"><span class="gene">CLCNKB</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607361">MKS3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609884"><span class="gene">TMEM67, MKS3, JBTS6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607341">FCDT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605284"><span class="gene">TSC1, LAM</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607330">LATHOSTEROLOSIS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602286"><span class="gene">SC5DL, ERG3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607326">SMC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607461"><span class="gene">DYM, FLJ90130, DMC, SMC</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607323">DRRS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607343"><span class="gene">SALL4, HSAL4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607322">CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118470"><span class="gene">CETP, HDLCQ10</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607313">HGPPS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630"><span class="gene">ROBO3, RBIG1, RIG1, HGPPS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607277">ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604687"><span class="gene">PTGDR, AS1, ASRT1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607276">RESTING HEART RATE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109630"><span class="gene">ADRB1, ADRB1R, RHR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607271">CASPASE 8 DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601763"><span class="gene">CASP8, MCH5, ALPS2B</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607259">SPG7</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602783"><span class="gene">PGN, SPG7, CMAR, CAR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607250">SCAN1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607198"><span class="gene">TDP1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607236">HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157"><span class="gene">PANK2, NBIA1, PKAN, HARP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607225">IAHSP</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606352"><span class="gene">ALS2, ALSJ, PLSJ, IAHSP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607200">THYROID HORMONOGENESIS, GENETIC DEFECT IN, 6</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606759"><span class="gene">DUOX2, THOX2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607196">MCPHA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606521"><span class="gene">SLC25A19, DNC, MUP1, MCPHA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607155">LGMD2I</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596"><span class="gene">FKRP, MDC1C, LGMD2I</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607154">ALLERGIC RHINITIS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147683"><span class="gene">IL13, ALRH, BHR1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607143">CDG1G</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607144"><span class="gene">ALG12</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607136">SCA17</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600075"><span class="gene">TBP, SCA17</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607133">CATARACT, SUTURAL, WITH PUNCTATE AND CERULEAN OPACITIES</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123620"><span class="gene">CRYBB2, CRYB2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607115">CINCA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416"><span class="gene">CIAS1, FCU, FCAS, NALP3, PYPAF1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607101">DFNB30</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606808"><span class="gene">MYO3A, DFNB30</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607095">ANAUXETIC DYSPLASIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157660"><span class="gene">RMRP, RMRPR, CHH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607091">CDG2D</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137060"><span class="gene">B4GALT1, GGTB2, GT1, GTB</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607084">DFNB31</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607928"><span class="gene">WHRN, CIP98, KIAA1526, DFNB31, USH2D</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607080">GONADAL DYSGENESIS, 46,XY, PARTIAL, WITH MINIFASCICULAR NEUROPATHY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605423"><span class="gene">DHH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607078">EDM5</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109"><span class="gene">MATN3, EDM5, HOA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607060">PARK8</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007"><span class="gene">LRRK2, PARK8</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607039">DFNB22</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607038"><span class="gene">OTOA, DFNB22</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607016">SCHEIE SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=252800"><span class="gene">IDUA, IDA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607015">HURLER-SCHEIE SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=252800"><span class="gene">IDUA, IDA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607014">HURLER SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=252800"><span class="gene">IDUA, IDA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606996">SLSN4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607215"><span class="gene">NPHP4, SLSN4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606966">NPHP4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607215"><span class="gene">NPHP4, SLSN4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606952">OCA1B</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606933"><span class="gene">TYR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606943">USH1G</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607696"><span class="gene">SANS, USH1G</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606889">ALZHEIMER DISEASE 4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600759"><span class="gene">PSEN2, AD4, STM2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606858">PREMATURE CHROMOSOME CONDENSATION WITH MICROCEPHALY AND MENTAL RETARDATION</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607117"><span class="gene">MCPH1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606856">PANCREATIC CANCER, SUSCEPTIBILITY TO, 1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608092"><span class="gene">PALLD, KIAA0992, PNCA1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606854">POLYMICROGYRIA, BILATERAL FRONTOPARIETAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110"><span class="gene">GPR56, TM7XN1, BFPP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606843">IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109535"><span class="gene">TNFRSF5, CD40</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606824">GGM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182380"><span class="gene">SLC5A1, SGLT1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606812">FUMARASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850"><span class="gene">FH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606799">STROKE, SUSCEPTIBILITY TO, 1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600129"><span class="gene">PDE4D, DPDE3, STRK1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606798">BLEPHAROSPASM, BENIGN ESSENTIAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126453"><span class="gene">DRD5, DRD1B, DRD1L2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606785">CRIGLER-NAJJAR SYNDROME, TYPE II</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191740"><span class="gene">UGT1A1, UGT1, GNT1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606777">GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140"><span class="gene">SLC2A1, GLUT1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606768">DMAT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009"><span class="gene">DYSF, LGMD2B</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606762">HHF6</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130"><span class="gene">GLUD1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606719">MELANOMA-PANCREATIC CANCER SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600160"><span class="gene">CDKN2A, MTS1, P16, MLM, CMM2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606705">DFNA36</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606706"><span class="gene">TMC1, DFNB7, DFNB11, DFNA36</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606693">KRS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610513"><span class="gene">ATP13A2, PARK9, KRPPD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606688">SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640"><span class="gene">PRNP, PRIP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606685">CMD1L</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601411"><span class="gene">SGCD, SGD, LGMD2F, CMD1L</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606664">GLYCINE N-METHYLTRANSFERASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606628"><span class="gene">GNMT</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606617">NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM WITH CONGENITAL HEART DEFECTS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601239"><span class="gene">DTNA, D18S892E, DRP3, LVNC1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606612">MDC1C</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596"><span class="gene">FKRP, MDC1C, LGMD2I</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606606">SHORT STATURE, PITUITARY AND CEREBELLAR DEFECTS, AND SMALL SELLA TURCICA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602146"><span class="gene">LHX4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606595">CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195"><span class="gene">HSPB1, HSP27, CMT2F, HMN2B</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606593">LIG4 SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837"><span class="gene">LIG4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606579">VAMAS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606636"><span class="gene">NALP1, KIAA0926, DEFCAP, CARD7, SLEV1, VAMAS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606574">OCA4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606202"><span class="gene">SLC45A2, MATP, AIM1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606482">CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378"><span class="gene">DNM2, CMTDIB, CMTDI1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606438">HDL2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605268"><span class="gene">JPH3, JP3, HDL2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606437">MYOKYMIA WITH NEONATAL EPILEPSY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235"><span class="gene">KCNQ2, EBN1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606408">EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600985"><span class="gene">TNXB, TNX, TNXB1, TNXBS, TNXB2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606407">HYPOTONIA-CYSTINURIA SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104614"><span class="gene">SLC3A1, ATR1, D2H, NBAT</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606369">EPILEPTIC ENCEPHALOPATHY, LENNOX-GASTAUT TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602897"><span class="gene">MAPK10, PRKM10, JNK3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606364">MOVED TO 606658</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607280"><span class="gene">CNTN4, SCA16</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606353">PLSJ</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606352"><span class="gene">ALS2, ALSJ, PLSJ, IAHSP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606346">DFNA22</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970"><span class="gene">MYO6, DFNA22, DFNB37</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606324">PARK7</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533"><span class="gene">DJ1, PARK7</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606243">ASPS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606236"><span class="gene">ASPSCR1, RCC17, ASPL, ASPS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606232">CHROMOSOME 22q13.3 DELETION SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606230"><span class="gene">SHANK3, PSAP2, PROSAP2, KIAA1650</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606217">AVSD2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170"><span class="gene">CRELD1, AVSD2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606159">BASAL GANGLIA DISEASE, ADULT-ONSET</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134790"><span class="gene">FTL</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606069">HFE4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604653"><span class="gene">SLC40A1, SLC11A3, FPN1, IREG1, HFE4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606056">CDG2B</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601336"><span class="gene">GCS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606003">TRANSALDOLASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602063"><span class="gene">TALDO1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606002">SCAR1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608465"><span class="gene">SETX, SCAR1, AOA2, ALS4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605990">NEPHROLITHIASIS, URIC ACID, SUSCEPTIBILITY TO</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607818"><span class="gene">ZNF365, UAN</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605911">3-@HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 2, MITOCHONDRIAL, DEFICIENCY OF</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234"><span class="gene">HMGCS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605909">PARK6</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309"><span class="gene">PINK1, PARK6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605850">DMGDHD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605849"><span class="gene">DMGDH, DMGDHD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605839">LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850"><span class="gene">FH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605820">NM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824"><span class="gene">GNE, GLCNE, IBM2, DMRV, NM</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605814">CITRULLINEMIA, TYPE II, NEONATAL-ONSET</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603859"><span class="gene">SLC25A13, CTLN2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605809">MYASTHENIA, FAMILIAL INFANTILE, 1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605809"><span class="gene">CMS1A1, FIM1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605805">ATOD4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604176"><span class="gene">SOCS3, SSI3, CIS3, ATOD4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605724">FANCD1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600185"><span class="gene">BRCA2, FANCD1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605714">AMYLOIDOSIS, CEREBROARTERIAL, HEREDITARY, IOWA TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760"><span class="gene">APP, AAA, CVAP, AD1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605676">CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125647"><span class="gene">DSP, KPPS2, PPKS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605670">LORD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608752"><span class="gene">C1QTNF5, CTRP5, LORD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605637">IBM3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160740"><span class="gene">MYH2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605594">DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125485"><span class="gene">DSPP, DPP, DGI1, DFNA39, DTDP2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605588">CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330"><span class="gene">LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605552">ABDOMINAL OBESITY-METABOLIC SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157147"><span class="gene">MTP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605543">PARK4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163890"><span class="gene">SNCA, NACP, PARK1, PARK4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605472">USH2C</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602851"><span class="gene">MASS1, VLGR1, KIAA0686, FEB4, USH2C</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605432">RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142958"><span class="gene">HOXA11, HOX1I</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605389">HYPOTRICHOSIS SIMPLEX</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630"><span class="gene">TGIF, HPE4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605387">CTPP3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610897"><span class="gene">CHMP4B, SNF7, CTPP3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605376">HETEROTAXY, VISCERAL, 2, AUTOSOMAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605194"><span class="gene">CFC1, CRYPTIC, HTX2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605375">EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118507"><span class="gene">CHRNB2, EFNL3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605373">PGL3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602413"><span class="gene">SDHC, PGL3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605362">CMD1J</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603550"><span class="gene">EYA4, DFNA10, CMD1J</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605361">SCA14</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980"><span class="gene">PRKCG, PKCC, PKCG, SCA14</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605355">NEM5</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191041"><span class="gene">TNNT1, ANM</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605316">DFNB10</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511"><span class="gene">TMPRSS3, ECHOS1, DFNB8, DFNB10</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605309">MACROCEPHALY/AUTISM SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728"><span class="gene">PTEN, MMAC1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605289">SHFM4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273"><span class="gene">TP73L, TP63, KET, EEC3, SHFM4, LMS, RHS, OFC8</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605280">SPG13</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190"><span class="gene">HSPD1, SPG13, HSP60</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605259">SCA13</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176264"><span class="gene">KCNC3, SCA13</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605258">IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605257"><span class="gene">AICDA, AID, HIGM2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605249">SBS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775"><span class="gene">MYH9, MHA, FTNS, DFNA17</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605218">SLEB2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600244"><span class="gene">PDCD1, SLEB2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605192">DFNA23</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601205"><span class="gene">SIX1, BOS3, DFNA23</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605156">MONA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120360"><span class="gene">MMP2, CLG4A, MONA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605115">HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION IN PREGNANCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983"><span class="gene">NR3C2, MLR, MCR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605039">C-LIKE SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606037"><span class="gene">CD96, TACTILE</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604929">EDMD3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330"><span class="gene">LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604928">WFS2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611507"><span class="gene">CISD2, WFS2, ZCD2, ERIS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604901">NAIC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607456"><span class="gene">CIRH1A, NAIC, TEX292, KIAA1988</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604864">OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140"><span class="gene">COL2A1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604841">STL2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120280"><span class="gene">COL11A1, STL2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604804">MCPH3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608201"><span class="gene">CDK5RAP2, KIAA1633, MCPH3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604777">LI3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611495"><span class="gene">CYP4F22, LI3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604765">CMD1I</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125660"><span class="gene">DES, CMD1I</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604757">CRS2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123101"><span class="gene">MSX2, CRS2, HOX8</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604717">DFNA20</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560"><span class="gene">ACTG1, DFNA20, DFNA26</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604715">ORTHOSTATIC INTOLERANCE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163970"><span class="gene">SLC6A2, NAT1, NET1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604625">STHAG3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167416"><span class="gene">PAX9</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604563">CMT4B2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607697"><span class="gene">SBF2, MTMR13, CMT4B2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604537">LCA5</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611408"><span class="gene">LCA5, C6orf152</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604536">ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601975"><span class="gene">PKP1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604498">CAMT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159530"><span class="gene">MPL, TPOR, MPLV</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604432">SCA11</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611695"><span class="gene">TTBK2, SCA11</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604416">PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606347"><span class="gene">PSTPIP1, PSTPIP, CD2BP1, PAPAS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604403">FEB3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389"><span class="gene">SCN1A, GEFSP2, SMEI, FEB3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604400">ARVD5</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150370"><span class="gene">LAMR1, LAMBR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604393">LCA4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604392"><span class="gene">AIPL1, LCA4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604391">ATLD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600814"><span class="gene">MRE11A, MRE11, ATLD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604387">NPHP3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608002"><span class="gene">NPHP3, NPH3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604379">AH</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607365"><span class="gene">LIPH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604377">CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272"><span class="gene">SCO2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604369">SIALURIA, FINNISH TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604322"><span class="gene">SLC17A5, SIASD, SLD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604360">SPG11</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610844"><span class="gene">SPG11, KIAA1840, FLJ21439</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604352">FEB4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602851"><span class="gene">MASS1, VLGR1, KIAA0686, FEB4, USH2C</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604348">ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603426"><span class="gene">PER2, FASPS, KIAA0347</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604326">SCA12</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604325"><span class="gene">PPP2R2B</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604320">DSMA1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600502"><span class="gene">IGHMBP2, SMUBP2, CATF1, SMARD1, HMN6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604308">MASS SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797"><span class="gene">FBN1, MFS1, WMS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604302">RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153620"><span class="gene">MIF</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604292">EEC3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273"><span class="gene">TP73L, TP63, KET, EEC3, SHFM4, LMS, RHS, OFC8</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604290">ACERULOPLASMINEMIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=117700"><span class="gene">CP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604286">LGMD2E</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600900"><span class="gene">SGCB, LGMD2E</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604278">RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603345"><span class="gene">SLC4A4, NBC1, KNBC, SLC4A5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604273">ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL, NEONATAL, DUE TO ATP SYNTHASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608918"><span class="gene">ATPAF2, ATP12</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604250">HFE3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604720"><span class="gene">TFR2, HFE3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604232">LEBER CONGENITAL AMAUROSIS, TYPE III</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830"><span class="gene">RDH12, LCA3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604229">PETERS ANOMALY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601771"><span class="gene">CYP1B1, GLC3A</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604218">FENIB</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445"><span class="gene">SERPINI1, PI12</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604187">SPG10</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821"><span class="gene">KIF5A, NKHC, SPG10</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604169">LVNC1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601239"><span class="gene">DTNA, D18S892E, DRP3, LVNC1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604168">CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604927"><span class="gene">CTDP1, FCP1, CCFDN</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604145">CMD1G</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840"><span class="gene">TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604129">EPIDERMOLYSIS BULLOSA PRURIGINOSA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120"><span class="gene">COL7A1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604117">VOHWINKEL SYNDROME, VARIANT FORM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152445"><span class="gene">LOR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604116">CORD3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691"><span class="gene">ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604004">MLC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605908"><span class="gene">MLC1, LVM, VL</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603965">FSGS2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603652"><span class="gene">TRPC6, TRP6, FSGS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603956">CERVICAL CANCER</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934"><span class="gene">FGFR3, ACH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603933">DIABETIC NEPHROPATHY, SUSCEPTIBILITY TO</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106180"><span class="gene">ACE, DCP1, ACE1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603909">ALPS2A</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601762"><span class="gene">CASP10, MCH4, ALPS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603902">BETA THALASSEMIA, DOMINANT INCLUSION BODY TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900"><span class="gene">HBB</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603860">MCKD2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845"><span class="gene">UMOD, HNFJ, FJHN, MCKD2, ADMCKD2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603830">LQT3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163"><span class="gene">SCN5A, LQT3, IVF, HB1, SSS1, CMD1E, CDCD2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603829">VF</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163"><span class="gene">SCN5A, LQT3, IVF, HB1, SSS1, CMD1E, CDCD2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603813">ARH</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605747"><span class="gene">LDLRAP1, ARH, FHCB2, FHCB1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603807">PETERS ANOMALY WITH CATARACT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108"><span class="gene">PAX6, AN2, MGDA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603776">HCHOLA3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786"><span class="gene">PCSK9, NARC1, HCHOLA3, FH3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603720">DFNB16</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606440"><span class="gene">STRC, DFNB16</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603689">HMERF</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840"><span class="gene">TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603688">PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600997"><span class="gene">EPHB2, EPHT3, DRT, ERK, PCBC, CAPB</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603649">CORD7</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629"><span class="gene">RIMS1, RIM1, RIM, KIAA0340, CORD7</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603629">DFNB21</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602574"><span class="gene">TECTA, DFNA8, DFNA12, DFNB21</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603622">DFNA17</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775"><span class="gene">MYH9, MHA, FTNS, DFNA17</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603585">CDG2F</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605634"><span class="gene">SLC35A1, CST</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603563">SPG8</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610657"><span class="gene">KIAA0196, SPG8</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603553">FHL2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170280"><span class="gene">PRF1, HPLH2, FLH2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603552">FHL4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605014"><span class="gene">STX11, FHL4, HPLH4, HLH4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603545">MOVED TO 600791</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605646"><span class="gene">SLC26A4, PDS, DFNB4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603543">LMS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273"><span class="gene">TP73L, TP63, KET, EEC3, SHFM4, LMS, RHS, OFC8</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603528">DEHYDRATED HEREDITARY STOMATOCYTOSIS, PSEUDOHYPERKALEMIA, AND PERINATAL EDEMA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=194380"><span class="gene">DHS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603516">SCA10</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611150"><span class="gene">ATXN10, SCA10</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603513">CEREBRAL PALSY, SPASTIC, SYMMETRIC, AUTOSOMAL RECESSIVE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605363"><span class="gene">GAD1, SCP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603471">CTLN2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603859"><span class="gene">SLC25A13, CTLN2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603373">HYPERTHYROIDISM, FAMILIAL GESTATIONAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372"><span class="gene">TSHR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603358">GRACILE SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647"><span class="gene">BCS1L, FLNMS, GRACILE, BJS, PTD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603285">CCM3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609118"><span class="gene">PDCD10, TFAR15, CCM3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603284">CCM2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607929"><span class="gene">C7orf22, CCM2, MGC4067</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603278">FSGS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604638"><span class="gene">ACTN4, FSGS1, FSGS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603233">PHP1B</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320"><span class="gene">GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603218">HDL1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640"><span class="gene">PRNP, PRIP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603175">SCZD5</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608923"><span class="gene">TAAR6, TRAR4, SCZD5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603147">CDG1C</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604566"><span class="gene">ALG6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603041">MNGIE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222"><span class="gene">ECGF1, MNGIE</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603034">EAD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603033"><span class="gene">COLQ, EAD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603013">SCZD6</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142445"><span class="gene">NRG1, HGL, HRGA, ARIA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602875">AMDM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108961"><span class="gene">NPR2, ANPRB, AMDM</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602849">MUENKE SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934"><span class="gene">FGFR3, ACH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602771">RSMD1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606210"><span class="gene">SEPN1, SELN, RSMD1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602722">RTADR</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605239"><span class="gene">ATP6V0A4, ATP6N1B, VPP2, RTA1C, RTADR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602668">DM2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116955"><span class="gene">ZNF9, CNBP1, DM2, PROMM</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602585">MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164840"><span class="gene">MYCN, NMYC, ODED, MODED</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602579">CDG1B</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154550"><span class="gene">MPI, PMI1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602540">ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011"><span class="gene">GJB2, CX26, DFNB1, PPK, DFNA3, KID, HID</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602491">HYPERLIPIDEMIA, COMBINED, 1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191523"><span class="gene">USF1, HYPLIP1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602485">HHF3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079"><span class="gene">GCK, HHF3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602481">FHM2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340"><span class="gene">ATP1A2, FHM2, MHP2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602473">ENCEPHALOPATHY, ETHYLMALONIC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608451"><span class="gene">ETHE1, HSCO, D83198</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602459">DFNA15</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602460"><span class="gene">POU4F3, BRN3C</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602450">SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605988"><span class="gene">DCLRE1C, ARTEMIS, SCIDA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602433">ALS4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608465"><span class="gene">SETX, SCAR1, AOA2, ALS4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602398">DESMOSTEROLOSIS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606418"><span class="gene">DHCR24, KIAA0018</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602347">PFIC3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060"><span class="gene">ABCB4, PGY3, MDR3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602111">SPONDYLOEPIMETAPHYSEAL DYSPLASIA, TYPE II</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600108"><span class="gene">MMP13, CLG3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602093">COD3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600364"><span class="gene">GUCA1A, GCAP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602092">DFNB18</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605242"><span class="gene">USH1C, DFNB18</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602088">NPHP2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=243305"><span class="gene">INVS, INV, NPHP2, NPH2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602083">USH1F</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514"><span class="gene">PCDH15, DFNB23, USH1H</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602082">CDB2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692"><span class="gene">TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602081">SPCH1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605317"><span class="gene">FOXP2, SPCH1, TNRC10, CAGH44</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602079">TMAU</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132"><span class="gene">FMO3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602078">CFEOM2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602753"><span class="gene">PHOX2A, ARIX, CFEOM2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602036">ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152445"><span class="gene">LOR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602032">PURE&apos</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602767"><span class="gene">KRTHB5, HB5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602014">HOMG</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607009"><span class="gene">TRPM6, CHAK2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601954">LGMD2G</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604488"><span class="gene">TCAP, LGMD2G, CMD1N</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601942">IDDM10</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147730"><span class="gene">IL2RA, IL2R, IDDM10</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601887">MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114208"><span class="gene">CACNA1S, CACNL1A3, CCHL1A3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601885">CZP3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121015"><span class="gene">GJA3, CX46, CZP3, CAE3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601884">BMND1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603506"><span class="gene">LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601868">DFNA13</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290"><span class="gene">COL11A2, STL3, DFNA13</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601859">ALPS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637"><span class="gene">TNFRSF6, APT1, FAS, CD95, ALPS1A</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601847">PFIC2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201"><span class="gene">ABCB11, BSEP, SPGP, PFIC2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601842">MOVED TO 601543</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602574"><span class="gene">TECTA, DFNA8, DFNA12, DFNB21</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601820">HHF2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937"><span class="gene">KCNJ11, BIR, PHHI, HHF2, TNDM3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601815">PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606879"><span class="gene">PHGDH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601813">EVR4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603506"><span class="gene">LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601800">SHEP3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409"><span class="gene">OCA2, P, PED, D15S12, BOCA, EYCL3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601780">CLN6</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606725"><span class="gene">CLN6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601777">CORD6</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179"><span class="gene">GUCY2D, GUC2D, LCA1, CORD6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601744">SLEB1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603031"><span class="gene">TLR5, TIL3, SLEB1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601718">RP19</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691"><span class="gene">ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601706">YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602229"><span class="gene">SOX10, WS4, WS2E</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601696">NOVELTY SEEKING PERSONALITY TRAIT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126452"><span class="gene">DRD4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601678">BARTTER SYNDROME, ANTENATAL, TYPE 1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600839"><span class="gene">SLC12A1, NKCC2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601631">IRID1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601090"><span class="gene">FOXC1, FKHL7, FREAC3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601596">CMT4C</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608206"><span class="gene">SH3TC2, KIAA1985</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601583">WT5</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609062"><span class="gene">POU6F2, WTSL, WT5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601559">STUVE-WIEDEMANN SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151443"><span class="gene">LIFR, STWS, SWS, SJS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601553">HJMD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114021"><span class="gene">CDH3, CDHP, PCAD, HJMD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601551">BLOOD GROUP--FROESE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270"><span class="gene">SLC4A1, AE1, EPB3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601550">SW</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270"><span class="gene">SLC4A1, AE1, EPB3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601547">CCA2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123620"><span class="gene">CRYBB2, CRYB2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601543">DFNA12</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602574"><span class="gene">TECTA, DFNA8, DFNA12, DFNB21</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601536">ABDS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142955"><span class="gene">HOXA1, HOX1F, BSAS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601518">HPC1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180435"><span class="gene">RNASEL, RNS4, PRCA1, HPC1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601494">CMD1D</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045"><span class="gene">TNNT2, CMH2, CMD1D</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601492">HYALURONIDASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607071"><span class="gene">HYAL1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601472">CMT2D</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287"><span class="gene">GARS, SMAD1, CMT2D, HMN5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601455">CMT4D</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605262"><span class="gene">NDRG1, HMSNL, CMT4D</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601451">NEVO SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153454"><span class="gene">PLOD, PLOD1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601419">MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125660"><span class="gene">DES, CMD1I</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601414">RP18</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607301"><span class="gene">HPRP3, RP18</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601399">PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151385"><span class="gene">RUNX1, CBFA2, AML1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601388">IDDM12</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123890"><span class="gene">CTLA4, IDDM12, CELIAC3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601382">CMT4B1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603557"><span class="gene">MTMR2, CMT4B1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601378">CRISPONI SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604237"><span class="gene">CRLF1, CISS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601369">DFNA9</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196"><span class="gene">COCH, DFNA9</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601349">MCOPS8</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605930"><span class="gene">SNX3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601321">NFNS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162200"><span class="gene">NF1, VRNF, WSS, NFNS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601317">DFNA11</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903"><span class="gene">MYO7A, USH1B, DFNB2, DFNA11</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601316">DFNA10</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603550"><span class="gene">EYA4, DFNA10, CMD1J</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601287">LGMD2F</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601411"><span class="gene">SGCD, SGD, LGMD2F, CMD1L</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601286">CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL, AUTOSOMAL DOMINANT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123690"><span class="gene">CRYGD, CRYG4, CCP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601283">NIDDM1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605286"><span class="gene">CAPN10</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601277">LI2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800"><span class="gene">ABCA12, ICR2B, LI2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601238">ATCAY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608179"><span class="gene">ATCAY, CLAC, KIAA1872</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601214">NAXOS DISEASE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173325"><span class="gene">JUP, DP3, PDGB, ARVD12</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601186">MCOPS9</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610745"><span class="gene">STRA6, MCOPS9</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601154">CMD1E</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163"><span class="gene">SCN5A, LQT3, IVF, HB1, SSS1, CMD1E, CDCD2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601152">HEREDITARY MOTOR AND SENSORY NEUROPATHY VI</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507"><span class="gene">MFN2, KIAA0214, CMT2A2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601144">BRUGADA SYNDROME 1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163"><span class="gene">SCN5A, LQT3, IVF, HB1, SSS1, CMD1E, CDCD2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601110">CDG1D</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608750"><span class="gene">ALG3, NOT56L, CDGS4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601104">PSNP1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140"><span class="gene">MAPT, MTBT1, DDPAC, MSTD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601098">CMT1C</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603795"><span class="gene">LITAF, CMT1C</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601072">DFNB8</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511"><span class="gene">TMPRSS3, ECHOS1, DFNB8, DFNB10</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601071">DFNB9</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603681"><span class="gene">OTOF, DFNB9, NSRD9</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601067">USH1D</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516"><span class="gene">CDH23, USH1D, USH1H</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601005">TS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205"><span class="gene">CACNA1C, CACNL1A1, CCHL1A1, TS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601003">BRODY MYOPATHY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108730"><span class="gene">ATP2A1, SERCA1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601001">EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148066"><span class="gene">KRT14</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600996">ARVD2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180902"><span class="gene">RYR2, VTSIP, ARVD2, ARVC2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600995">SRN1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766"><span class="gene">PDCN, NPHS2, SRN1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600994">DFNA5</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608798"><span class="gene">DFNA5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600974">DFNB7</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606706"><span class="gene">TMC1, DFNB7, DFNB11, DFNA36</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600972">ACG1B</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606718"><span class="gene">SLC26A2, DTD, DTDST, D5S1708, EDM4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600971">DFNB6</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607237"><span class="gene">TMIE, DFNB6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600969">EDM3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120270"><span class="gene">COL9A3, EDM3, IDD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600965">DFNA6</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606201"><span class="gene">WFS1, WFRS, WFS, DFNA6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600955">PROPROTEIN CONVERTASE 1/3 DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150"><span class="gene">PCSK1, NEC1, PC1, PC3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600919">CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106410"><span class="gene">ANK2, LQT4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600886">HYPERFERRITINEMIA-CATARACT SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134790"><span class="gene">FTL</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600882">CMT2B</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298"><span class="gene">RAB7, CMT2B, PSN</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600881">CCZS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123610"><span class="gene">CRYBA1, CRYB1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600858">CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743"><span class="gene">PRKAG2, WPWS, CMH6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600852">RP17</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760"><span class="gene">CA4, RP17</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600850">SCZD4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606810"><span class="gene">PRODH, PRODH2, SCZD4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600803">GBD1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060"><span class="gene">ABCB4, PGY3, MDR3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600795">FTD3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609512"><span class="gene">CHMP2B, DMT1, VPS2B</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600791">EVA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601093"><span class="gene">FOXI1, FKHL10, FREAC6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600737">IBM2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824"><span class="gene">GNE, GLCNE, IBM2, DMRV, NM</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600721">D-2-@HYDROXYGLUTARIC ACIDURIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609186"><span class="gene">D2HGD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600652">DFNA4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568"><span class="gene">MYH14, KIAA2034, DFNA4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600649">CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600650"><span class="gene">CPT2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600648">NEVUS, EPIDERMAL, EPIDERMOLYTIC HYPERKERATOTIC TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148080"><span class="gene">KRT10</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600644">PVRL1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600644"><span class="gene">HVEC, PVRL1, PVRR1, PRR1, ED4, OFC7</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600513">EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118504"><span class="gene">CHRNA4, ENFL1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600512">ADLTE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604619"><span class="gene">LGI1, EPT, ETL1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600501">ABCD SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131244"><span class="gene">EDNRB, HSCR2, ABCDS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600496">MODY3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142410"><span class="gene">TCF1, HNF1A, MODY3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600462">MLASA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608109"><span class="gene">PUS1, MLASA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600376">ORW2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284"><span class="gene">ACVRL1, ACVRLK1, ALK1, HHT2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600363">SPG6</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608145"><span class="gene">NIPA1, SPG6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600334">TIBIAL MUSCULAR DYSTROPHY, TARDIVE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840"><span class="gene">TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600320">IDDM5</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608829"><span class="gene">SUMO4, IDDM5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600316">DFNB3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602666"><span class="gene">MYO15A, DFNB3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600224">SCA5</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604985"><span class="gene">SPTBN2, SCA5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600208">MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775"><span class="gene">MYH9, MHA, FTNS, DFNA17</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600204">EDM2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120260"><span class="gene">COL9A2, EDM2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600202">DYX2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609269"><span class="gene">KIAA0319, DYX2, DYLX2, DLX2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600195">VMCM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221"><span class="gene">TEK, TIE2, VMCM</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600155">HSCR2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131244"><span class="gene">EDNRB, HSCR2, ABCDS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600145">SACRAL DEFECT WITH ANTERIOR MENINGOCELE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610132"><span class="gene">VANGL1, STBM2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600143">CLN8</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607837"><span class="gene">CLN8, EPMR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600138">RP11</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606419"><span class="gene">PRPF31, PRP31</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600132">RP14</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602280"><span class="gene">TULP1, RP14</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600121">RCDP3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603051"><span class="gene">AGPS, ADHAPS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600118">WARBM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602536"><span class="gene">RAB3GAP1, WARBM1, P130</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600116">PARK2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544"><span class="gene">PRKN, PARK2, PDJ, LPRS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600110">STGD3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605512"><span class="gene">ELOVL4, ADMD, STGD2, STGD3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600105">RP12</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210"><span class="gene">CRB1, RP12, LCA8</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600081">25-@HYDROXYVITAMIN D3 DEFICIENCY, SELECTIVE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608713"><span class="gene">CYP2R1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600072">FFI</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640"><span class="gene">PRNP, PRIP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600060">DFNB2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903"><span class="gene">MYO7A, USH1B, DFNB2, DFNA11</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600059">RP13</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607300"><span class="gene">PRPF8, PRPC8, RP13</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600002">EIKEN SKELETAL DYSPLASIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168468"><span class="gene">PTHR1, PTHR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=580000">DEAFNESS, AMINOGLYCOSIDE-INDUCED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610230"><span class="gene">TRMU, MTO2, TRNT1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=415000">SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=400005"><span class="gene">USP9Y, DFFRY</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=400042">SERTOLI CELL-ONLY SYNDROME, Y-LINKED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601897"><span class="gene">ZNF148, ZFP148</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=335320"></a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160"><span class="gene">COL1A2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314390">VACTERL ASSOCIATION WITH HYDROCEPHALUS, X-LINKED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300515"><span class="gene">FAAP95, FAAP90, FLJ34064, FANCB</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314250">DYT3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313650"><span class="gene">TAF1, TAF2A, CCG1, BA2R, DYT3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313900">THC1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300392"><span class="gene">WAS, IMD2, THC</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313400">SEDT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300202"><span class="gene">TRAPPC2, SEDL, SEDT</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313200">SMAX1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700"><span class="gene">AR, DHTR, TFM, SBMA, KD, SMAX1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312920">SPG2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401"><span class="gene">PLP1, PMD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312870">SGBS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300037"><span class="gene">GPC3, SDYS, SGBS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312863">CIDX</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308380"><span class="gene">IL2RG, SCIDX1, SCIDX, IMD4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312170">PYRUVATE DECARBOXYLASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502"><span class="gene">PDHA1, PHE1A</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312080">PMD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401"><span class="gene">PLP1, PMD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312060">PROPERDIN DEFICIENCY, X-LINKED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300383"><span class="gene">PFC, PFD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311300">OPD1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017"><span class="gene">FLNA, FLN1, ABPX, NHBP, OPD1, OPD2, FMD, MNS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311250">ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461"><span class="gene">OTC</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311200">OFD1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300170"><span class="gene">OFD1, CXorf5, SGBS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311150">OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300356"><span class="gene">TIMM8A, DFN1, DDP, MTS, DDP1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311070">CMTX5</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311850"><span class="gene">PRPS1, CMTX5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=310700">NYS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300628"><span class="gene">FRMD7</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=310500">CSNB1A</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300278"><span class="gene">CSNB1, NYX</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=310468">XRN</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008"><span class="gene">CLCN5, CLCK2, NPHL2, DENTS, NPHL1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=310465">NSX</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312040"><span class="gene">POLA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=310400">MTM1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300415"><span class="gene">MTM1, MTMX</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=310300">EDMD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300384"><span class="gene">EMD, EDMD, STA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309801">MCOPS7</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300056"><span class="gene">HCCS, MCOPS7</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309583">MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300105"><span class="gene">SMS, SRS, MRSR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309580">MRXHF1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032"><span class="gene">ATRX, XH2, XNP, MRXS3, SHS, SFM1, MRXHF1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309549">MRX9</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300499"><span class="gene">FTSJ1, JM23, SPB1, MRX44, MRX9</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309541">MRX3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300104"><span class="gene">GDI1, RABGD1A, MRX41, MRX48</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309510">PRTS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382"><span class="gene">ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309500">RENS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300463"><span class="gene">PQBP1, NPW38, SHS, MRX55, MRXS3, RENS1, MRXS8</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309400">MENKES DISEASE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300011"><span class="gene">ATP7A, MNK, MK, OHS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309350">MNS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017"><span class="gene">FLNA, FLN1, ABPX, NHBP, OPD1, OPD2, FMD, MNS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309000">OCRL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300535"><span class="gene">OCRL, LOCR, OCRL1, NPHL2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308990">PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008"><span class="gene">CLCN5, CLCK2, NPHL2, DENTS, NPHL1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308940">LEIOMYOMATOSIS, ESOPHAGEAL AND VULVAL, WITH NEPHROPATHY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303631"><span class="gene">COL4A6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308930">LEIGH SYNDROME, X-LINKED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502"><span class="gene">PDHA1, PHE1A</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308800">KFSD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313020"><span class="gene">SAT1, SSAT, KFSD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308300">IP</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248"><span class="gene">IKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308240">XLP1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300490"><span class="gene">SH2D1A, LYP, IMD5, XLP, XLPD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308230">HIGM1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300386"><span class="gene">TNFSF5, CD40LG, HIGM1, IGM</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308050">CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275"><span class="gene">NSDHL</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=307800">HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300550"><span class="gene">PHEX, HYP, HPDR1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=307200">HYPOGAMMAGLOBULINEMIA AND ISOLATED GROWTH HORMONE DEFICIENCY, X-LINKED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300"><span class="gene">BTK, AGMX1, IMD1, XLA, AT</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=307030">HYPERGLYCEROLEMIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300474"><span class="gene">GK</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=307000">HSAS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840"><span class="gene">L1CAM, CAML1, HSAS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306955">HTX1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300265"><span class="gene">ZIC3, HTX1, HTX</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306400">CGD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300481"><span class="gene">CYBB, CGD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305600">FDH</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300651"><span class="gene">PORCN, PORC, DHOF, FODH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305400">FACIOGENITAL DYSPLASIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300546"><span class="gene">FGD1, FGDY, AAS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305390">EVR2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=310600"><span class="gene">NDP, ND</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305100">XHED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451"><span class="gene">ED1, EDA, HED</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305000">DKC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126"><span class="gene">DKC1, DKC</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304800">DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538"><span class="gene">AVPR2, DIR, DI1, ADHR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304790">IPEX</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292"><span class="gene">FOXP3, IPEX, AIID, XPID, PIDX</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304700">MTS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300356"><span class="gene">TIMM8A, DFN1, DDP, MTS, DDP1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304400">DFNX2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300039"><span class="gene">POU3F4, DFN3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304150">CUTIS LAXA, X-LINKED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300011"><span class="gene">ATP7A, MNK, MK, OHS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304120">OPD2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017"><span class="gene">FLNA, FLN1, ABPX, NHBP, OPD1, OPD2, FMD, MNS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304110">CFNS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300035"><span class="gene">EFNB1, EPLG2, CFNS, CFND</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304100">CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840"><span class="gene">L1CAM, CAML1, HSAS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304020">CORDX1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312610"><span class="gene">RPGR, RP3, CRD, RP15, COD1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303600">CLS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075"><span class="gene">RPS6KA3, RSK2, MRX19</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303400">CPX</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300307"><span class="gene">TBX22, CPX</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303350">MASA SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840"><span class="gene">L1CAM, CAML1, HSAS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303100">CHM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300390"><span class="gene">CHM, TCD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=302960">CDPX2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300205"><span class="gene">EBP, CDPX2, CPXD, CPX</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=302950">CDPX1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300180"><span class="gene">ARSE, CDPX1, CDPXR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=302800">CMTX1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040"><span class="gene">GJB1, CX32, CMTX1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=302350">NHS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300457"><span class="gene">NHS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=302060">BTHS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300394"><span class="gene">TAZ, EFE2, BTHS, CMD3A, LVNCX</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=302045">CMD3B</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377"><span class="gene">DMD, BMD, CMD3B</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301900">BFLS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300414"><span class="gene">PHF6, BFLS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301835">ARTS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311850"><span class="gene">PRPS1, CMTX5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301500">FABRY DISEASE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644"><span class="gene">GLA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301310">ASAT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135"><span class="gene">ABCB7, ABC7, ASAT</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301200">AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300391"><span class="gene">AMELX, AMG, AIH1, AMGX</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301050">ATS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303630"><span class="gene">COL4A5, ATS, ASLN</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301040">ATRX</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032"><span class="gene">ATRX, XH2, XNP, MRXS3, SHS, SFM1, MRXHF1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301000">WAS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300392"><span class="gene">WAS, IMD2, THC</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300676">MRXS14</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300298"><span class="gene">UPF3B, RENT3B, MRXS14</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300673">ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005"><span class="gene">MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300661">PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311850"><span class="gene">PRPS1, CMTX5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300659">MRX93</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300553"><span class="gene">BRWD3, MRX93</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300653">PHOSPHOGLYCERATE KINASE 1 DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800"><span class="gene">PGK1, PGKA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300642">SRPX2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300642"><span class="gene">SRPX2, SRPUL, RESDX</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300639">MENTAL RETARDATION, X-LINKED, WITH BRACHYDACTYLY AND MACROGLOSSIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300304"><span class="gene">CUL4B, MRXSC, MRXHF2, SFM2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300636">AMCBX1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248"><span class="gene">IKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300635">XLP2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300079"><span class="gene">BIRC4, API3, XIAP, XLP2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300630">MRX59</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300629"><span class="gene">AP1S2, MRX59</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300624">FRAGILE X MENTAL RETARDATION SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309550"><span class="gene">FMR1, FRAXA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300623">FXTAS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309550"><span class="gene">FMR1, FRAXA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300622">TN SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300611"><span class="gene">C1GALT1C1, COSMC, C1GALT2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300607">HYPEREKPLEXIA AND EPILEPSY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300429"><span class="gene">ARHGEF9, PEM2, KIAA0424</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300606">HYPODONTIA, X-LINKED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451"><span class="gene">ED1, EDA, HED</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300604">POF2B</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300603"><span class="gene">FLJ22792</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300600">AIED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300110"><span class="gene">CACNA1F, CSNB2, CORDX3, CSNB2A, AIED, OA2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300590">CDLS2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300040"><span class="gene">DXS423E, SMC1, CDLS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300584">IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248"><span class="gene">IKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300578">CHROMOSOME Xp11.3 DELETION SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312600"><span class="gene">RP2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300577">MRX91</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300576"><span class="gene">ZDHHC15, MRX91</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300559">MUSCLE GLYCOGENOSIS, X-LINKED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311870"><span class="gene">PHKA1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300558">MRX30</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142"><span class="gene">PAK3, MRX30, MRX47</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300554">HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008"><span class="gene">CLCN5, CLCK2, NPHL2, DENTS, NPHL1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300539">NSIAD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538"><span class="gene">AVPR2, DIR, DI1, ADHR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300537">HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017"><span class="gene">FLNA, FLN1, ABPX, NHBP, OPD1, OPD2, FMD, MNS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300534">MENTAL RETARDATION, X-LINKED, SYNDROMIC, JARID1C-RELATED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314690"><span class="gene">SMCX, MRXSJ, DXS1272E, XE169, JARID1C</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300523">AHDS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300095"><span class="gene">SLC16A2, DXS128, XPCT</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300514">FANCB</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300515"><span class="gene">FAAP95, FAAP90, FLJ34064, FANCB</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300511">POF2A</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300108"><span class="gene">DIAPH2, DIA, POF2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300510">ODG2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300247"><span class="gene">BMP15, GDF9B, ODG2, POF4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300498">MRX45</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314998"><span class="gene">ZNF81, MRX45</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300497">ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300427"><span class="gene">NLGN4, KIAA1260, AUTSX2, ASPGX2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300496">AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005"><span class="gene">MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300495">AUTISM, X-LINKED, SUSCEPTIBILITY TO, 2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300427"><span class="gene">NLGN4, KIAA1260, AUTSX2, ASPGX2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300494">ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300336"><span class="gene">NLGN3, ASPGX1, AUTSX1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300491">EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313440"><span class="gene">SYN1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300486">MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300127"><span class="gene">OPHN1, MRX60</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300476">CORDX3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300110"><span class="gene">CACNA1F, CSNB2, CORDX3, CSNB2A, AIED, OA2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300472">CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300139"><span class="gene">IGBP1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300455">RETINITIS PIGMENTOSA, X-LINKED, WITH RECURRENT RESPIRATORY INFECTIONS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312610"><span class="gene">RPGR, RP3, CRD, RP15, COD1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300448">ATMDS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032"><span class="gene">ATRX, XH2, XNP, MRXS3, SHS, SFM1, MRXHF1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300438">HYDROXYACYL-CoA DEHYDROGENASE II DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256"><span class="gene">HADH2, ERAB</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300436">MRX46</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300267"><span class="gene">ARHGEF6, MRX46, COOL2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300434">STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300579"><span class="gene">SHROOM4, KIAA1202, SDSX</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300432">MOVED TO 308350</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382"><span class="gene">ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300425">AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300336"><span class="gene">NLGN3, ASPGX1, AUTSX1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300423">XMRE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300556"><span class="gene">ATP6AP2, ATP6M8-9, XMRE, MRXE</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300419">MRXARX</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382"><span class="gene">ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300400">SCIDX1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308380"><span class="gene">IL2RG, SCIDX1, SCIDX, IMD4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300389">RP3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312610"><span class="gene">RPGR, RP3, CRD, RP15, COD1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300387">MRX63</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300157"><span class="gene">FACL4, ACS4, MRX63</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300376">BMD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377"><span class="gene">DMD, BMD, CMD3B</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300367">DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305371"><span class="gene">GATA1, GF1, ERYF1, NFE1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300354">MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE WASTING, AND TREMOR</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300304"><span class="gene">CUL4B, MRXSC, MRXHF2, SFM2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300352">CREATINE DEFICIENCY SYNDROME, X-LINKED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300036"><span class="gene">SLC6A8, CRTR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300323">GOUT, HPRT-RELATED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000"><span class="gene">HPRT1, HPRT</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300322">LNS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000"><span class="gene">HPRT1, HPRT</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300306">BMIQ11</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300444"><span class="gene">SLC6A14, OBX</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300301">OLEDAID</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248"><span class="gene">IKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300299">XLN</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300392"><span class="gene">WAS, IMD2, THC</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300291">ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248"><span class="gene">IKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300263">SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300560"><span class="gene">PHF8, ZNF422, KIAA1111, MRXSSD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300260">MRXSL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005"><span class="gene">MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300257">DANON DISEASE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309060"><span class="gene">LAMP2, LAMPB</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248">IKBKG</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248"><span class="gene">IKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300240">HHS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126"><span class="gene">DKC1, DKC</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300215">LISX2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382"><span class="gene">ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300210">MRX58</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300096"><span class="gene">TM4SF2, MXS1, A15, MRX58</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300209">SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300170"><span class="gene">OFD1, CXorf5, SGBS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300200">AHC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473"><span class="gene">DAX1, AHC, AHX, NROB1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300194">AMME COMPLEX</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300195"><span class="gene">AMMECR1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300183">LVNCX</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300394"><span class="gene">TAZ, EFE2, BTHS, CMD3A, LVNCX</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300166">MCOPS2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300485"><span class="gene">BCOR, KIAA1575, MCOPS2, MAA2, ANOP2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300143">MRX21</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300206"><span class="gene">IL1RAPL1, IL1R8, MRX21, MRX34</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300123">MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313430"><span class="gene">SOX3, MRGH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300100">ALD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371"><span class="gene">ABCD1, ALD, AMN</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300087">SXI1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314670"><span class="gene">XIC, XCE, XIST, SXI1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300071">CSNB2A</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300110"><span class="gene">CACNA1F, CSNB2, CORDX3, CSNB2A, AIED, OA2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300069">CMD3A</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300394"><span class="gene">TAZ, EFE2, BTHS, CMD3A, LVNCX</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300068">AIS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700"><span class="gene">AR, DHTR, TFM, SBMA, KD, SMAX1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300067">LISX1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121"><span class="gene">DCX, DBCN, LISX</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300055">MRXS13</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005"><span class="gene">MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300049">HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017"><span class="gene">FLNA, FLN1, ABPX, NHBP, OPD1, OPD2, FMD, MNS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300029">RP15</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312610"><span class="gene">RPGR, RP3, CRD, RP15, COD1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300018">DSS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473"><span class="gene">DAX1, AHC, AHX, NROB1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300004">CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382"><span class="gene">ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300000">OPITZ GBBB SYNDROME, X-LINKED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300552"><span class="gene">MID1, OGS1, BBBG1, FXY, OSX</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=278800">DE SANCTIS-CACCHIONE SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609413"><span class="gene">ERCC6, CKN2, COFS1, CSB, ARMD5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=278780">XPG</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133530"><span class="gene">ERCC5, XPG, COFS3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=278760">XPF</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133520"><span class="gene">ERCC4, XPF</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=278750">XPV</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603968"><span class="gene">POLH, XPV</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=278740">XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600811"><span class="gene">DDB2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=278730">XPD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340"><span class="gene">ERCC2, EM9, XPD, COFS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=278700">XPA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611153"><span class="gene">XPA, XPAC</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=278400">ROCA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=115501"><span class="gene">TYRP1, CAS2, GP75</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=278300">XANTHINURIA, TYPE I</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607633"><span class="gene">XDH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277950">WINCHESTER SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120360"><span class="gene">MMP2, CLG4A, MONA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277900">WILSON DISEASE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882"><span class="gene">ATP7B, WND</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277730">WERNICKE-KORSAKOFF SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606781"><span class="gene">TKT</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277610">WZS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290"><span class="gene">COL11A2, STL3, DFNA13</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277600">WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608990"><span class="gene">ADAMTS10, WMS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277590">WEAVER SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606681"><span class="gene">NSD1, ARA267, STO</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277460">VED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600415"><span class="gene">TTPA, TTP1, AVED</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277450">VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137167"><span class="gene">GGCX</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277440">VITAMIN D-DEPENDENT RICKETS, TYPE II</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601769"><span class="gene">VDR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277400">METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609831"><span class="gene">MMACHC</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277300">SCDO1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602768"><span class="gene">DLL3, SCDO1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277180">CBAVD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421"><span class="gene">CFTR, ABCC7, CF, MRP7</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277000">MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603490"><span class="gene">WNT4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276950">VACTERL ASSOCIATION WITH HYDROCEPHALUS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728"><span class="gene">PTEN, MMAC1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276904">USH1C</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605242"><span class="gene">USH1C, DFNB18</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276902">USH3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606397"><span class="gene">USH3A, USH3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276901">USH2A</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608400"><span class="gene">USH2A, RP39</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276900">USHER SYNDROME, TYPE I</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903"><span class="gene">MYO7A, USH1B, DFNB2, DFNA11</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276820">ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601570"><span class="gene">WNT7A</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276710">TYROSINEMIA, TYPE III</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609695"><span class="gene">HPD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276400">TWINNING, DIZYGOTIC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435"><span class="gene">FSHR, ODG1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=275900">SPG20</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607111"><span class="gene">SPG20</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=275630">CDS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604780"><span class="gene">ABHD5, CGI58, IECN2, NCIE2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=275200">CHNG1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372"><span class="gene">TSHR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274600">PDS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605646"><span class="gene">SLC26A4, PDS, DFNB4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274500">THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2A</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606765"><span class="gene">TPO, TPX</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274400">THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601843"><span class="gene">SLC5A5, NIS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274300">GRTH</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160"><span class="gene">THRB, ERBA2, THR1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274150">TTP</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134"><span class="gene">ADAMTS13, VWFCP, TTP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=273800">THROMBASTHENIA OF GLANZMANN AND NAEGELI</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607759"><span class="gene">ITGA2B, GP2B, CD41B</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=273750">THREE M SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609577"><span class="gene">CUL7</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=273395">TETRA-AMELIA, AUTOSOMAL RECESSIVE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=165330"><span class="gene">WNT3, INT4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=272800">TSD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869"><span class="gene">HEXA, TSD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=272460">SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381"><span class="gene">FLNB, SCT, AOI, LRS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=272430">CISS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604237"><span class="gene">CRLF1, CISS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=272300">SULFOCYSTEINURIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887"><span class="gene">SUOX</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=272200">MSD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939"><span class="gene">SUMF1, FGE</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=271980">SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045"><span class="gene">ALDH5A1, SSADH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=271930">SNDI</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605815"><span class="gene">NUP62, SNDI, IBSN</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=271900">CANAVAN DISEASE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034"><span class="gene">ASPA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=271700">SPONDYLOPERIPHERAL DYSPLASIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140"><span class="gene">COL2A1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=271150">SMA4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354"><span class="gene">SMN1, SMA1, SMA2, SMA3, SMA4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=270970">SPHEROCYTOSIS, AUTOSOMAL RECESSIVE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182860"><span class="gene">SPTA1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=270960">AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSIS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604759"><span class="gene">SYCP3, SCP3, COR1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=270685">SPG17</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606158"><span class="gene">BSCL2, SPG17, HMN5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=270550">SACS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604490"><span class="gene">SACS, ARSACS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=270400">SLOS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602858"><span class="gene">DHCR7, SLOS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=270200">SLS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523"><span class="gene">ALDH3A2, ALDH10, SLS, FALDH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=270100">SITUS INVERSUS VISCERUM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603339"><span class="gene">DNAH11, DNAHC11</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=269921">SIALURIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824"><span class="gene">GNE, GLCNE, IBM2, DMRV, NM</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=269920">INFANTILE SIALIC ACID STORAGE DISORDER</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604322"><span class="gene">SLC17A5, SIASD, SLD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=269700">CGL2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606158"><span class="gene">BSCL2, SPG17, HMN5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=269600">SEA-BLUE HISTIOCYTE DISEASE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107741"><span class="gene">APOE, AD2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=269500">SOST</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605740"><span class="gene">SOST, VBCH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=269160">SCHIZENCEPHALY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600035"><span class="gene">EMX2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=269000">SC PHOCOMELIA SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609353"><span class="gene">ESCO2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268900">SARCOSINEMIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604455"><span class="gene">SARDH, SARD, SAR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268800">SANDHOFF DISEASE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873"><span class="gene">HEXB</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268700">SACCHAROPINURIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605113"><span class="gene">AASS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268400">RTS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603780"><span class="gene">RECQL4, RTS, RECQ4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268310">ROBINOW SYNDROME, AUTOSOMAL RECESSIVE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602337"><span class="gene">ROR2, BDB1, BDB, NTRKR2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268300">RBS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609353"><span class="gene">ESCO2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268210">RMS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602631"><span class="gene">SLC22A1L, BWSCR1A, IMPT1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268150">RHN</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180297"><span class="gene">RHAG, RH50A</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268100">ESCS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485"><span class="gene">NR2E3, PNR, ESCS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=267750">KNOBLOCH SYNDROME, TYPE I</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120328"><span class="gene">COL18A1, KNO</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=267300">RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192132"><span class="gene">ATP6B1, VPP3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=266900">SLSN1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607100"><span class="gene">NPHP1, NPH1, SLSN1, JBTS4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=266280">RAPADILINO SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603780"><span class="gene">RECQL4, RTS, RECQ4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=266265">CDG2C</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605881"><span class="gene">SLC35C1, FUCT1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=266200">PYRUVATE KINASE DEFICIENCY OF RED CELLS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712"><span class="gene">PKLR, PK1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=266150">PYRUVATE CARBOXYLASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608786"><span class="gene">PC</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=266140">HPP</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182860"><span class="gene">SPTA1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=266130">GLUTATHIONE SYNTHETASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002"><span class="gene">GSS, GSHS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=266120">URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606224"><span class="gene">NT5C3, UMPH1, PSN1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=265800">PYCNODYSOSTOSIS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601105"><span class="gene">CTSK</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=265450">PVOD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799"><span class="gene">BMPR2, PPH1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=265120">SMDP1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178640"><span class="gene">SFTPB, SFTB3, SMDP1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=265100">PULMONARY ALVEOLAR MICROLITHIASIS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604217"><span class="gene">SLC34A2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=265000">MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100730"><span class="gene">CHRNG, ACHRG</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264700">VITAMIN D-DEPENDENT RICKETS, TYPE I</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609506"><span class="gene">CYP27B1, VDD1, PDDR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264600">PPSH</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607306"><span class="gene">SRD5A2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264470">PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751"><span class="gene">ACOX1, ACOX, SCOX</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264300">17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573"><span class="gene">HSD17B3, EDH17B3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264080">PROGESTERONE RESISTANCE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607311"><span class="gene">PGR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264070">HYPERPHENYLALANINEMIA WITH PRIMAPTERINURIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126090"><span class="gene">PCBD, DCOH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=263800">GITELMAN SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968"><span class="gene">SLC12A3, NCCT, TSC</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=263700">PORPHYRIA, CONGENITAL ERYTHROPOIETIC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938"><span class="gene">UROS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=263400">ERYTHROCYTOSIS, FAMILIAL, 2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608537"><span class="gene">VHL</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=263300">POLYCYTHEMIA VERA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147796"><span class="gene">JAK2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=263200">ARPKD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606702"><span class="gene">FCYT, PKHD1, ARPKD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=262650">PITUITARY DWARFISM IV</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139250"><span class="gene">GH1, GHN</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=262600">PITUITARY DWARFISM III</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600577"><span class="gene">LHX3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=262500">GROWTH HORMONE INSENSITIVITY SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600946"><span class="gene">GHR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=262400">PITUITARY DWARFISM I</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139250"><span class="gene">GH1, GHN</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=262300">ACHM3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605080"><span class="gene">CNGB3, ACHM3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=262190">PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670"><span class="gene">INSR, HHF5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=262000">BJS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647"><span class="gene">BCS1L, FLNMS, GRACILE, BJS, PTD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=261750">PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172490"><span class="gene">PHKB</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=261500">PEROXIDASE AND PHOSPHOLIPID DEFICIENCY IN EOSINOPHILS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131399"><span class="gene">EPX</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=261000">IFD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609342"><span class="gene">GIF, IF</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=260920">HIDS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251170"><span class="gene">MVK, MVLK</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=260540">PARKINSON-DEMENTIA SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140"><span class="gene">MAPT, MTBT1, DDPAC, MSTD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=260400">SDS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607444"><span class="gene">SBDS, SDS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=260370">PANCREATIC AGENESIS, CONGENITAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733"><span class="gene">IPF1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=260000">HYPEROXALURIA, PRIMARY, TYPE II</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604296"><span class="gene">GRHPR, GLXR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=259900">HYPEROXALURIA, PRIMARY, TYPE I</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285"><span class="gene">AGXT, SPAT</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=259775">RNS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611061"><span class="gene">FAM20C, DMP4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=259770">OPPG</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603506"><span class="gene">LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=259730">OPTB3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492"><span class="gene">CA2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=259720">OPTB5</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607649"><span class="gene">OSTM1, GL, OPTB5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=259710">OPTB2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602642"><span class="gene">TNFSF11, OPGL, TRANCE, OPTB2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=259700">OPTB1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604592"><span class="gene">TCIRG1, TIRC7, OC116, OPTB1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=258660">NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606672"><span class="gene">GP1BA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=258501">3-@METHYLGLUTACONIC ACIDURIA, TYPE III</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606580"><span class="gene">OPA3, MGA3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=257980">OODD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606268"><span class="gene">WNT10A</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=257320">LIS2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600514"><span class="gene">RELN, RL</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=257270">CSNB1B</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096"><span class="gene">GRM6, MGLUR6, CSNB1B</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=257220">NPC1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623"><span class="gene">NPC1, NPC</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=257200">NIEMANN-PICK DISEASE, TYPE A</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608"><span class="gene">SMPD1, NPD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256850">GAN1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605379"><span class="gene">GAN, GAN1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256840">NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610150"><span class="gene">CCT5, KIAA0098, CCTE</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256800">CIPA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315"><span class="gene">NTRK1, TRKA, MTC</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256731">CLN5</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608102"><span class="gene">CLN5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256730">CLN1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600722"><span class="gene">PPT1, CLN1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256600">INAD1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604"><span class="gene">PLA2G6, IPLA2, INAD1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256550">NEURAMINIDASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608272"><span class="gene">NEU1, NEU, SIAL1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256500">NETH</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605010"><span class="gene">SPINK5, LEKTI</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256450">HHF1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509"><span class="gene">ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256370">NEPHROTIC SYNDROME, EARLY-ONSET, WITH DIFFUSE MESANGIAL SCLEROSIS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102"><span class="gene">WT1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256300">NPHS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602716"><span class="gene">NPHS1, NPHN</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256100">NPHP1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607100"><span class="gene">NPHP1, NPH1, SLSN1, JBTS4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256050">AOII</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606718"><span class="gene">SLC26A2, DTD, DTDST, D5S1708, EDM4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256030">NEM2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=161650"><span class="gene">NEB, NEM2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=255960">MYXOMA, INTRACARDIAC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188830"><span class="gene">PRKAR1A, TSE1, CNC1, CAR, PPNAD1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=255800">SJS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142461"><span class="gene">HSPG2, PLC, SJS, SJA, SJS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=255700">MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425"><span class="gene">CLCN1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=255310">CFTD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610"><span class="gene">ACTA1, ASMA, NEM3, NEM1, CFTD1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=255200">MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248"><span class="gene">BIN1, AMPHL</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=255120">CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600528"><span class="gene">CPT1A</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=255110">CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600650"><span class="gene">CPT2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=254800">MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601145"><span class="gene">CSTB, STFB, EPM1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=254770">EJM1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608815"><span class="gene">EFHC1, FLJ10466, EJM1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=254600">MYELOPEROXIDASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606989"><span class="gene">MPO</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=254450">MYELOFIBROSIS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147796"><span class="gene">JAK2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=254210">MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490"><span class="gene">CHAT, CMS1A2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=254130">MM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009"><span class="gene">DYSF, LGMD2B</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=254110">LGMD2H</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602290"><span class="gene">TRIM32, HT2A, LGMD2H, BBS11</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253800">FCMD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607440"><span class="gene">FKTN, FCMD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253700">LGMD2C</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608896"><span class="gene">SGCG, LGMD2C, DMDA1, SCG3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253601">LGMD2B</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009"><span class="gene">DYSF, LGMD2B</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253600">LGMD2A</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240"><span class="gene">CAPN3, CANP3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253550">SMA2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354"><span class="gene">SMN1, SMA1, SMA2, SMA3, SMA4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253400">SMA3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354"><span class="gene">SMN1, SMA1, SMA2, SMA3, SMA4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253300">SMA1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354"><span class="gene">SMN1, SMA1, SMA2, SMA3, SMA4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253290">MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100730"><span class="gene">CHRNG, ACHRG</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253270">HOLOCARBOXYLASE SYNTHETASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609018"><span class="gene">HLCS, HCS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253260">BIOTINIDASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609019"><span class="gene">BTD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253250">MULIBREY NANISM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605073"><span class="gene">TRIM37, MUL, KIAA0898</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253220">MUCOPOLYSACCHARIDOSIS TYPE VII</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611499"><span class="gene">GUSB, MPS7</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253200">MUCOPOLYSACCHARIDOSIS TYPE VI</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542"><span class="gene">ARSB, MPS6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253010">MORQUIO SYNDROME B</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458"><span class="gene">GLB1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=252940">MUCOPOLYSACCHARIDOSIS TYPE IIID</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607664"><span class="gene">GNS, G6S</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=252930">MUCOPOLYSACCHARIDOSIS TYPE IIIC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610453"><span class="gene">HGSNAT, TMEM76, MPS3C</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=252920">MUCOPOLYSACCHARIDOSIS TYPE IIIB</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609701"><span class="gene">NAGLU</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=252900">MUCOPOLYSACCHARIDOSIS TYPE IIIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605270"><span class="gene">SGSH, MPS3A, SFMD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=252650">MUCOLIPIDOSIS IV</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605248"><span class="gene">MCOLN1, ML4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=252605">MUCOLIPIDOSIS III GAMMA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607838"><span class="gene">GNPTAG</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=252600">MUCOLIPIDOSIS III ALPHA/BETA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607840"><span class="gene">GNPTAB, GNPTA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=252500">MUCOLIPIDOSIS II ALPHA/BETA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607840"><span class="gene">GNPTAB, GNPTA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=252011">MITOCHONDRIAL COMPLEX II DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600857"><span class="gene">SDHA, SDH2, SDHF</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251260">NIJMEGEN BREAKAGE SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602667"><span class="gene">NBS1, NBS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251110">METHYLMALONIC ACIDURIA, cblB TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607568"><span class="gene">MMAB</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251100">METHYLMALONIC ACIDURIA, cblA TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607481"><span class="gene">MMAA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251000">METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058"><span class="gene">MUT, MCM</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=250950">3-@METHYLGLUTACONIC ACIDURIA, TYPE I</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600529"><span class="gene">AUH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=250940">METHYLCOBALAMIN DEFICIENCY, cblG TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156570"><span class="gene">MTR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=250620">BETA-HYDROXYISOBUTYRYL CoA DEACYLASE, DEFICIENCY OF</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610690"><span class="gene">HIBCH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=250460">METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157660"><span class="gene">RMRP, RMRPR, CHH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=250250">CHH</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157660"><span class="gene">RMRP, RMRPR, CHH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=250100">METACHROMATIC LEUKODYSTROPHY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574"><span class="gene">ARSA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=249900">METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176801"><span class="gene">PSAP, SAP1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=249500">MRT1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606709"><span class="gene">PRSS12, BSSP3, MRT1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=249270">TRMA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603941"><span class="gene">SLC19A2, THTR1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=249210">MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118503"><span class="gene">CHRNA3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=249100">FMF</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107"><span class="gene">MEFV, MEF, FMF</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=249000">MKS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609883"><span class="gene">MKS1, MKS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248900">MAST SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608181"><span class="gene">ACP33, MAST, SPG21</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248800">MSS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608005"><span class="gene">SIL1, BAP, MSS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248510">MANNOSIDOSIS, BETA A, LYSOSOMAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609489"><span class="gene">MANBA, MANB1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248500">MANNOSIDOSIS, ALPHA B, LYSOSOMAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609458"><span class="gene">MAN2B1, MANB</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248370">MADA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330"><span class="gene">LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248360">MALONYL-CoA DECARBOXYLASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606761"><span class="gene">MLYCD, MCD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248300">MAL DE MELEDA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606119"><span class="gene">SLURP1, MDM</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248250">HOMG3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603959"><span class="gene">CLDN16, PCLN1, HOMG3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248190">HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610036"><span class="gene">CLDN19</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=247200">MDLS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605066"><span class="gene">YWHAE, MDCR, MDS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=247100">LIPOID PROTEINOSIS OF URBACH AND WIETHE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602201"><span class="gene">ECM1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246700">CMRD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690"><span class="gene">SARA2, SAR1B, CMRD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246300">LEPROSY, SUSCEPTIBILITY TO</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603028"><span class="gene">TLR2, TIL4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246200">DONOHUE SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670"><span class="gene">INSR, HHF5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=245900">LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606967"><span class="gene">LCAT</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=245660">LOCS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600805"><span class="gene">LAMA3, LOCS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=245590">GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604260"><span class="gene">STAT5B</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=245480">SGD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600749"><span class="gene">CEBPE, CRP1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=245400">LACTIC ACIDOSIS, FATAL INFANTILE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611224"><span class="gene">SUCLG1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=245349">PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608769"><span class="gene">PDX1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=245340">ERYTHROCYTE LACTATE TRANSPORTER DEFECT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600682"><span class="gene">SLC16A1, MCT1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=245200">KRABBE DISEASE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606890"><span class="gene">GALC</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=245150">KEUTEL SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154870"><span class="gene">MGP, NTI</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=245050">SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601424"><span class="gene">OXCT1, OXCT, SCOT</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=245010">HMS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365"><span class="gene">CTSC, CPPI, PALS, PLS, HMS, JPD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=245000">PALS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365"><span class="gene">CTSC, CPPI, PALS, PLS, HMS, JPD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=244460">KCS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604934"><span class="gene">TBCE, KCS, KCS1, HRD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=244200">KAL3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607123"><span class="gene">PROKR2, PKR2, GPR73L1, KAL3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=243800">JBS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605981"><span class="gene">UBR1, JBS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=243500">IVA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036"><span class="gene">IVD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=243300">BRIC1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602397"><span class="gene">ATP8B1, FIC1, BRIC, PFIC1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=243060">MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495"><span class="gene">STK13, AIE2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=243000">INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603415"><span class="gene">SCN9A, NENA, PN1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=242900">IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606622"><span class="gene">SMARCAL1, HARP, SIOD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=242860">IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900"><span class="gene">DNMT3B, ICF</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=242650">MOVED TO 244400</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604366"><span class="gene">DNAI1, CILD1, ICS, PCD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=242500">ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800"><span class="gene">ABCA12, ICR2B, LI2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=242300">LI1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190195"><span class="gene">TGM1, ICR2, LI1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=241850">HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602617"><span class="gene">FOXE1, FKHL15, TITF2, TTF2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=241600">HYPOPROTEINEMIA, HYPERCATABOLIC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109700"><span class="gene">B2M</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=241550">HYPOPLASTIC LEFT HEART SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121014"><span class="gene">GJA1, CX43, ODDD, SDTY3, ODOD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=241530">HHRH</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609826"><span class="gene">SLC34A3, NPTIIC, HHRH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=241510">HYPOPHOSPHATASIA, CHILDHOOD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760"><span class="gene">ALPL, HOPS, TNSALP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=241500">HYPOPHOSPHATASIA, INFANTILE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760"><span class="gene">ALPL, HOPS, TNSALP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=241410">HRD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604934"><span class="gene">TBCE, KCS, KCS1, HRD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=241200">BARTTER SYNDROME, ANTENATAL, TYPE 2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359"><span class="gene">KCNJ1, ROMK1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=240800">LIH</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509"><span class="gene">ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=240600">GLYCOGEN STORAGE DISEASE 0, LIVER</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138571"><span class="gene">GYS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=240500">CVID</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604907"><span class="gene">TNFRSF13B, TACI, CVID</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=240300">APS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607358"><span class="gene">AIRE, APECED</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=239510">HPII</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811"><span class="gene">ALDH4A1, ALDH4, P5CDH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=239500">HPI</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606810"><span class="gene">PRODH, PRODH2, SCZD4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=239200">NSHPT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199"><span class="gene">CASR, HHC1, PCAR1, FIH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=239100">HYPEROSTOSIS CORTICALIS GENERALISATA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605740"><span class="gene">SOST, VBCH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=239000">PAGET DISEASE, JUVENILE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602643"><span class="gene">TNFRSF11B, OPG, OCIF</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238970">HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603861"><span class="gene">SLC25A15, ORNT1, HHH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238700">HYPERLYSINEMIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605113"><span class="gene">AASS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238600">HYPERLIPOPROTEINEMIA, TYPE I</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708"><span class="gene">LPL, LIPD, HDLCQ11</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=237900">HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191740"><span class="gene">UGT1A1, UGT1, GNT1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=237500">DJS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107"><span class="gene">ABCC2, CMOAT</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=237310">N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608300"><span class="gene">NAGS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=237300">CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608307"><span class="gene">CPS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=236792">L-2-HYDROXYGLUTARIC ACIDURIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609584"><span class="gene">L2HGDH, C14orf160</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=236700">MKKS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896"><span class="gene">MKKS, HMCS, KMS, MKS, BBS6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=236680">HYDROLETHALUS SYNDROME 1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610693"><span class="gene">HYLS1, FLJ32915</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=236490">HYALINOSIS, INFANTILE SYSTEMIC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041"><span class="gene">ANTXR2, CMG2, JHF, ISH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=236270">HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568"><span class="gene">MTRR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=236250">HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607093"><span class="gene">MTHFR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=236100">HOLOPROSENCEPHALY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605934"><span class="gene">HPE6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=235800">HISTIDINEMIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609457"><span class="gene">HAL, HSTD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=235730">MOWAT-WILSON SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605802"><span class="gene">ZEB2, ZFHX1B, SMADIP1, SIP1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=235550">VODI</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604457"><span class="gene">SP110, IFI41, IFI75, VODI</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=235200">HFE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112261"><span class="gene">BMP2, BMP2A</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=234500">HARTNUP DISORDER</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608893"><span class="gene">SLC6A19, HND</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=234200">NBIA1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157"><span class="gene">PANK2, NBIA1, PKAN, HARP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=234050">TTDN1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609188"><span class="gene">TTDN1, C7orf11, ABHS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=234000">FACTOR XII DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610619"><span class="gene">F12, HAF, HAE3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=233910">GTP CYCLOHYDROLASE I DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225"><span class="gene">GCH1, DYT5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=233710">GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515"><span class="gene">NCF2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=233700">GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608512"><span class="gene">NCF1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=233690">GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608508"><span class="gene">CYBA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=233300">ODG1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435"><span class="gene">FSHR, ODG1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=233100">GLYS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182381"><span class="gene">SLC5A2, SGLT2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232800">GLYCOGEN STORAGE DISEASE VII</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681"><span class="gene">PFKM, GSD7</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232600">GLYCOGEN STORAGE DISEASE V</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455"><span class="gene">PYGM</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232500">GLYCOGEN STORAGE DISEASE IV</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839"><span class="gene">GBE1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232400">GLYCOGEN STORAGE DISEASE III</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610860"><span class="gene">AGL, GDE</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232300">GLYCOGEN STORAGE DISEASE II</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800"><span class="gene">GAA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232220">GLYCOGEN STORAGE DISEASE Ib</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671"><span class="gene">G6PT1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=231900">GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002"><span class="gene">GSS, GSHS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=231670">GLUTARIC ACIDEMIA I</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801"><span class="gene">GCDH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=231550">AAA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605378"><span class="gene">AAAS, AAA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=231530">3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601609"><span class="gene">HADHSC, SCHAD, HHF4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=231300">GLC3A</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601771"><span class="gene">CYP1B1, GLC3A</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=231090">HYDATIDIFORM MOLE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609661"><span class="gene">NALP7, NOD12, PYPAF3, HYDM</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=231005">GAUCHER DISEASE, TYPE IIIC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463"><span class="gene">GBA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=231000">GAUCHER DISEASE, TYPE III</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463"><span class="gene">GBA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=230900">GAUCHER DISEASE, TYPE II</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463"><span class="gene">GBA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=230800">GAUCHER DISEASE, TYPE I</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463"><span class="gene">GBA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=230650">GM1-GANGLIOSIDOSIS, TYPE III</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458"><span class="gene">GLB1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=230600">GM1-GANGLIOSIDOSIS, TYPE II</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458"><span class="gene">GLB1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=230500">GM1-GANGLIOSIDOSIS, TYPE I</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458"><span class="gene">GLB1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=230450">GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606857"><span class="gene">GCLC, GLCLC</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=230400">GALACTOSEMIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999"><span class="gene">GALT</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=230350">GALACTOSE EPIMERASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953"><span class="gene">GALE</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=230200">GALACTOKINASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604313"><span class="gene">GALK1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229700">FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570"><span class="gene">FBP1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229100">FORMIMINOTRANSFERASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606806"><span class="gene">FTCD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229070">FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136530"><span class="gene">FSHB</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=228930">FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601570"><span class="gene">WNT7A</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=228900">FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601146"><span class="gene">GDF5, CDMP1, SYNS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=228600">FIBROMATOSIS, JUVENILE HYALINE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041"><span class="gene">ANTXR2, CMG2, JHF, ISH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=228300">FERTILE EUNUCH SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138850"><span class="gene">GNRHR, LHRHR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227810">FBS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138160"><span class="gene">SLC2A2, GLUT2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650">FA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607139"><span class="gene">FANCA, FACA, FA1, FA, FAA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227220">SHEP1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409"><span class="gene">OCA2, P, PED, D15S12, BOCA, EYCL3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227200">EUNUCHOIDISM, FAMILIAL HYPOGONADOTROPIC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152760"><span class="gene">GNRH1, LNRH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=226980">EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604032"><span class="gene">EIF2AK3, PEK, PERK, WRS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=226900">EDM4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606718"><span class="gene">SLC26A2, DTD, DTDST, D5S1708, EDM4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=226670">EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601282"><span class="gene">PLEC1, PLTN, EBS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=226600">RDEB</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120"><span class="gene">COL7A1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=226200">ENTEROKINASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606635"><span class="gene">PRSS7, ENTK</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=225750">AGS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609"><span class="gene">TREX1, AGS1, AGS5, CRV, HERNS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=225410">EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604539"><span class="gene">ADAMTS2, NPI</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=225400">EHLERS-DANLOS SYNDROME, TYPE VI</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153454"><span class="gene">PLOD, PLOD1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=225310">EHLERS-DANLOS SYNDROME WITH PLATELET DYSFUNCTION FROM FIBRONECTIN ABNORMALITY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600"><span class="gene">FN1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=225060">CLPED1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600644"><span class="gene">HVEC, PVRL1, PVRR1, PRR1, ED4, OFC7</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=225000">ROSSELLI-GULIENETTI SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600644"><span class="gene">HVEC, PVRL1, PVRR1, PRR1, ED4, OFC7</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=224410">DDSH</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142461"><span class="gene">HSPG2, PLC, SJS, SJA, SJS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=224120">ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE I</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607465"><span class="gene">CDAN1, CDA1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=224050">CHMRQ1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192977"><span class="gene">VLDLR, VLDLRCH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=223900">HSAN3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603722"><span class="gene">IKBKAP, IKAP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=223800">DMC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607461"><span class="gene">DYM, FLJ90130, DMC, SMC</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=223360">DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609312"><span class="gene">DBH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=222900">CSID</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609845"><span class="gene">SI</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=222765">RCDP2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602744"><span class="gene">GNPAT, DHAPAT</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=222730">DICARBOXYLICAMINO ACIDURIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133550"><span class="gene">SLC1A1, EAAC1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=222700">LPI</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603593"><span class="gene">SLC7A7, LPI</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=222600">DIASTROPHIC DYSPLASIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606718"><span class="gene">SLC26A2, DTD, DTDST, D5S1708, EDM4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=222448">DONNAI-BARROW SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600073"><span class="gene">LRP2, DBS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=222300">WFS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606201"><span class="gene">WFS1, WFRS, WFS, DFNA6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=220290">DFNB1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011"><span class="gene">GJB2, CX26, DFNB1, PPK, DFNA3, KID, HID</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=220150">HYPOURICEMIA, RENAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607096"><span class="gene">SLC22A12, OAT4L, URAT1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=220111">LSFC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607544"><span class="gene">LRPPRC, LRP130, LSFC</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=220100">CYSTINURIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104614"><span class="gene">SLC3A1, ATR1, D2H, NBAT</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219900">CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606272"><span class="gene">CTNS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219800">CTNS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606272"><span class="gene">CTNS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219750">CYSTINOSIS, ADULT NONNEPHROPATHIC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606272"><span class="gene">CTNS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219500">CYSTATHIONINURIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607657"><span class="gene">CTH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218800">CRIGLER-NAJJAR SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191740"><span class="gene">UGT1A1, UGT1, GNT1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218700">CHNG2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415"><span class="gene">PAX8</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218600">BGS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603780"><span class="gene">RECQL4, RTS, RECQ4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218000">ACCPN</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604878"><span class="gene">SLC12A6, KCC3A, KCC3B, KCC3, ACCPN</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217800">MCDC1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605294"><span class="gene">CHST6, MCDC1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217700">CHED2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206"><span class="gene">SLC4A11, BTR1, NABC1, CHED2, CDPD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217400">CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206"><span class="gene">SLC4A11, BTR1, NABC1, CHED2, CDPD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217300">CNA2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603288"><span class="gene">KERA, CNA2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217090">PLASMINOGEN DEFICIENCY, TYPE I</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173350"><span class="gene">PLG</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=216900">ACHM2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053"><span class="gene">CNGA3, CNG3, ACHM2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=216550">COH1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607817"><span class="gene">COH1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=216400">CSA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609412"><span class="gene">ERCC8, CKN1, CSA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=215700">CITRULLINEMIA, CLASSIC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470"><span class="gene">ASS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=215300">CHONDROSARCOMA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608177"><span class="gene">EXT1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=215140">HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600024"><span class="gene">LBR, PHA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=215100">RCDP1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601757"><span class="gene">PEX7, RCDP1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=215045">BOCD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168468"><span class="gene">PTHR1, PTHR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=214700">DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126650"><span class="gene">SLC26A3, DRA, CLD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=214500">CHS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606897"><span class="gene">CHS1, LYST</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=214450">GS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160777"><span class="gene">MYO5A, MYH12, GS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=214400">CMT4A</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598"><span class="gene">GDAP1, CMT4A, CMT2K, CMT2G</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=214150">COFS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609413"><span class="gene">ERCC6, CKN2, COFS1, CSB, ARMD5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=213700">CEREBROTENDINOUS XANTHOMATOSIS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606530"><span class="gene">CYP27A1, CYP27, CTX</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=212720">MARTSOLF SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609275"><span class="gene">RAB3GAP2, RAB3GAP150, p150, KIAA0839</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=212550">MCOPCT2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606326"><span class="gene">SIX6, MCOPCT2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=212140">CDSP</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377"><span class="gene">SLC22A5, OCTN2, CDSP, SCD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=212070">CARBOXYPEPTIDASE N DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103"><span class="gene">CPN1, SCPN, CPN</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=212066">CDG2A</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602616"><span class="gene">MGAT2, CDGS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=212065">CDG1A</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785"><span class="gene">PMM2, CDG1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=211750">C SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606037"><span class="gene">CD96, TACTILE</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=211600">PFIC1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602397"><span class="gene">ATP8B1, FIC1, BRIC, PFIC1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=210900">BLM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604610"><span class="gene">RECQL3, RECQ2, BLM, BS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=210600">SECKEL SYNDROME 1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601215"><span class="gene">ATR, FRP1, SCKL</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=210370">BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608614"><span class="gene">CYP4V2, BCD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=210210">3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609014"><span class="gene">MCCC2, MCCB</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=210200">3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609010"><span class="gene">MCCC1, MCCA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=209850">AUTISM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138750"><span class="gene">GLO1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=209500">APL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602302"><span class="gene">HR, AU</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=209300">ATRANSFERRINEMIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190000"><span class="gene">TF</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=208920">EAOH</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350"><span class="gene">APTX, AOA, AOA1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=208900">AT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607585"><span class="gene">ATM, ATA, AT1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=208250">CACP</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604283"><span class="gene">PRG4, CACP, MSF, SZP, HAPO</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=208230">PPAC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603400"><span class="gene">WISP3, PPAC, PPD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=208085">ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608552"><span class="gene">VPS33B</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=208050">ATS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606145"><span class="gene">SLC2A10, GLUT10, ATS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=208000">GACI</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173335"><span class="gene">ENPP1, PDNP1, NPPS, M6S1, PCA1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=207900">ARGININOSUCCINIC ACIDURIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310"><span class="gene">ASL</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=207800">ARGININEMIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608313"><span class="gene">ARG1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=207750">APOLIPOPROTEIN C-II DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608083"><span class="gene">APOC2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=207410">ABS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943"><span class="gene">FGFR2, BEK, CFD1, JWS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=206900">MCOPS3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184429"><span class="gene">SOX2, MCOPS3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=206800">ANONYCHIA CONGENITA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610573"><span class="gene">RSPO4, CRISTIN4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=206100">ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523"><span class="gene">NRAMP2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=205400">TGD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046"><span class="gene">ABCA1, ABC1, HDLDT1, TGD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=205100">ALS2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606352"><span class="gene">ALS2, ALSJ, PLSJ, IAHSP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=204870">CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137290"><span class="gene">TACSTD2, TROP2, M1S1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=204500">CLN2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607998"><span class="gene">CLN2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=204200">CLN3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607042"><span class="gene">CLN3, BTS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=204100">LCA2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180069"><span class="gene">RPE65, RP20</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=204000">LCA1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179"><span class="gene">GUCY2D, GUC2D, LCA1, CORD6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203800">ALMS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606844"><span class="gene">ALMS1, ALSS, KIAA0328</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203750">ALPHA-METHYLACETOACETIC ACIDURIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607809"><span class="gene">ACAT1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203700">ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763"><span class="gene">POLG, POLG1, POLGA, PEO, SANDO, SCAE</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203655">ALUNC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602302"><span class="gene">HR, AU</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203500">ALKAPTONURIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607474"><span class="gene">HGD, AKU</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203400">CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124080"><span class="gene">CYP11B2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203290">OCA3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=115501"><span class="gene">TYRP1, CAS2, GP75</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203100">OCA1A</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606933"><span class="gene">TYR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=202500">MOVED TO 600899 AND 601457</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600899"><span class="gene">PRKDC, HYRC1, DNPK1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=202200">GCCD1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607397"><span class="gene">MC2R</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=202110">ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300"><span class="gene">CYP17A1, CYP17, P450C17</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=202010">ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610613"><span class="gene">CYP11B1, P450C11, FHI</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201750">POR DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015"><span class="gene">POR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201475">ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575"><span class="gene">ACADVL, VLCAD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201470">ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885"><span class="gene">ACADS, SCAD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201460">ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609576"><span class="gene">ACADL, LCAD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201450">ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008"><span class="gene">ACADM, MCAD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201300">HSAN2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608620"><span class="gene">HSN2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201250">ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601146"><span class="gene">GDF5, CDMP1, SYNS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201100">AEZ</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607059"><span class="gene">SLC39A4, ZIP4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201000">CARPENTER SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606144"><span class="gene">RAB23</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=200990">ACLS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=165240"><span class="gene">GLI3, PAPA, PAPB, ACLS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=200950">ACID PHOSPHATASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171650"><span class="gene">ACP2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=200700">CHONDRODYSPLASIA, GREBE TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601146"><span class="gene">GDF5, CDMP1, SYNS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=200610">ACG2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140"><span class="gene">COL2A1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=200500">ACHEIROPODY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605522"><span class="gene">LMBR1, ACHP, C7orf2, PPD2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=200150">CHAC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605978"><span class="gene">VPS13A, CHAC</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=200100">ABL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157147"><span class="gene">MTP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=194470">ZINC, ELEVATED PLASMA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600"><span class="gene">ALB</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=194200">WOLFF-PARKINSON-WHITE SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743"><span class="gene">PRKAG2, WPWS, CMH6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=194080">DDS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102"><span class="gene">WT1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=194072">WAGR</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102"><span class="gene">WT1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193700">DA2A</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720"><span class="gene">MYH3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193670">WHIM SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162643"><span class="gene">CXCR4, D2S201E, NPY3R, WHIM</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193530">WEYERS ACROFACIAL DYSOSTOSIS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604831"><span class="gene">EVC</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193520">WATSON SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162200"><span class="gene">NF1, VRNF, WSS, NFNS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193510">WS2A</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845"><span class="gene">MITF, WS2A</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193500">WS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597"><span class="gene">PAX3, WS1, HUP2, CDHS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193100">ADHR</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605380"><span class="gene">FGF23, ADHR, HPDR2, PHPTC</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192950">CVT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142984"><span class="gene">HOXD10, HOX4D</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192605">VENTRICULAR TACHYCARDIA, FAMILIAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139360"><span class="gene">GNAI2, GNAI2B, GIP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192500">LQT1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542"><span class="gene">KCNQ1, KCNA9, LQT1, KVLQT1, ATFB1, SQT2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192430">VELOCARDIOFACIAL SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602054"><span class="gene">TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192315">VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609"><span class="gene">TREX1, AGS1, AGS5, CRV, HERNS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191900">MUCKLE-WELLS SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416"><span class="gene">CIAS1, FCU, FCAS, NALP3, PYPAF1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191390">IBD11</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=158371"><span class="gene">MUC3A</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190351">TRPS3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604386"><span class="gene">TRPS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190350">TRPS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604386"><span class="gene">TRPS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190320">TRICHODENTOOSSEOUS SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600525"><span class="gene">DLX3, TDO</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190300">ETM1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126451"><span class="gene">DRD3, ETM1, FET1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189500">WITKOP SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142983"><span class="gene">MSX1, HOX7, HYD1, OFC5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188580">THYROTOXIC PERIODIC PARALYSIS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114208"><span class="gene">CACNA1S, CACNL1A3, CCHL1A3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188570">GRTH</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160"><span class="gene">THRB, ERBA2, THR1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188400">DGS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602054"><span class="gene">TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188050">THROMBOPHILIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603924"><span class="gene">HABP2, PHBP, HGFAL, FSAP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188000">THC2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221"><span class="gene">FLJ14813, THC2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187600">TD1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934"><span class="gene">FGFR3, ACH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187300">HHT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131195"><span class="gene">ENG, END, HHT1, ORW</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186580">SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605956"><span class="gene">NOD2, CARD15, IBD1, CD, ACUG, PSORAS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186570">TCC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602991"><span class="gene">NOG, SYM1, SYNS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186500">SYNS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602991"><span class="gene">NOG, SYM1, SYNS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186300">SYNDACTYLY, TYPE V</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142989"><span class="gene">HOXD13, HOX4I, SPD, BDSD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186100">SYNDACTYLY, TYPE III</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121014"><span class="gene">GJA1, CX43, ODDD, SDTY3, ODOD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186000">SPD1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142989"><span class="gene">HOXD13, HOX4I, SPD, BDSD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=185500">SVAS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130160"><span class="gene">ELN</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=185000">STOMATOCYTOSIS I</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133090"><span class="gene">EPB72</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184840">STL3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290"><span class="gene">COL11A2, STL3, DFNA13</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184700">PCOS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136470"><span class="gene">FST, FS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184500">STEATOCYSTOMA MULTIPLEX</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148069"><span class="gene">KRT17, PC2, PCHC1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184460">STAPES ANKYLOSIS WITH BROAD THUMB AND TOES</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602991"><span class="gene">NOG, SYM1, SYNS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184252">SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140"><span class="gene">COL2A1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184250">SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140"><span class="gene">COL2A1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=183900">SEDC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140"><span class="gene">COL2A1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=183600">SHFM1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606708"><span class="gene">SHFM5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=183090">SCA2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601517"><span class="gene">ATXN2, ATX2, SCA2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=183086">SCA6</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011"><span class="gene">CACNA1A, CACNL1A4, SCA6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182980">SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL DOMINANT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605704"><span class="gene">VAPB, VAPC, ALS8</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182920">MYOPATHY, SPHEROID BODY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103"><span class="gene">TTID, MYOT</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182601">SPG4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277"><span class="gene">SPG4, SPAST</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182600">SPG3A</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439"><span class="gene">SPG3A</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182290">SMS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607642"><span class="gene">RAI1, SMCR, SMS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182230">SEPTOOPTIC DYSPLASIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601802"><span class="gene">HESX1, RPX</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182212">SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797"><span class="gene">FBN1, MFS1, WMS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=181510">SCZD1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607265"><span class="gene">CLINT1, EPN4, EPNR, KIAA0171, SCZD1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=181450">UMS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601621"><span class="gene">TBX3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=181350">EDMD2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330"><span class="gene">LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=181030">SALIVARY GLAND ADENOMA, PLEOMORPHIC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603026"><span class="gene">PLAG1, SGPA, PSA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180920">ALSG</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602115"><span class="gene">FGF10</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180860">SRS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103280"><span class="gene">H19, D11S813E, ASM1, BWS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180550">RDC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542"><span class="gene">PITX2, IDG2, RIEG1, RGS, IGDS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180500">RIEG1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542"><span class="gene">PITX2, IDG2, RIEG1, RGS, IGDS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180105">RP10</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690"><span class="gene">IMPDH1, RP10, LCA11</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180104">RP9</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607331"><span class="gene">RP9</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180100">RP1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603937"><span class="gene">RP1, ORP1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179850">DDD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148040"><span class="gene">KRT5, DDD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179800">RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270"><span class="gene">SLC4A1, AE1, EPB3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179620">RAPH BLOOD GROUP SYSTEM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602243"><span class="gene">CD151, PETA3, SFA1, MER2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179010">IHPS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163731"><span class="gene">NOS1, IHPS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178600">PPH1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799"><span class="gene">BMPR2, PPH1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178300">PTOS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606940"><span class="gene">ZFH4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177850">PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234"><span class="gene">ABCC6, ARA, ABC34, MLP1, PXE</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177820">PSEUDO-VON WILLEBRAND DISEASE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606672"><span class="gene">GP1BA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177735">PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983"><span class="gene">NR3C2, MLR, MCR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177720">PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=194380"><span class="gene">DHS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177650">XFS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153456"><span class="gene">LOXL1, LOXL</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177170">PSACH</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600310"><span class="gene">COMP, EDM1, MED, PSACH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176920">PROTEUS SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728"><span class="gene">PTEN, MMAC1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176780">PELVIC ORGAN PROLAPSE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150290"><span class="gene">LAMC1, LAMB2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176670">HGPS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330"><span class="gene">LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176500">FBD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603904"><span class="gene">ITM2B, BRI, ABRI, FBD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176450">CURRARINO SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142994"><span class="gene">HLXB9, HOXHB9, SCRA1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176410">PRECOCIOUS PUBERTY, MALE-LIMITED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152790"><span class="gene">LHCGR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176305">PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142959"><span class="gene">HOXA13, HOX1J</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176000">PORPHYRIA, ACUTE INTERMITTENT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806"><span class="gene">HMBS, PBGD, UPS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=175900">DSAP1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611684"><span class="gene">SART3, P100, KIAA0156, TIP110, DSAP1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=175780">PORENCEPHALY, FAMILIAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120130"><span class="gene">COL4A1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=175700">GCPS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=165240"><span class="gene">GLI3, PAPA, PAPB, ACLS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=175200">PJS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216"><span class="gene">STK11, PJS, LKB1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=175050">JPHT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600993"><span class="gene">MADH4, DPC4, SMAD4, JIP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174810">HEPOD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603499"><span class="gene">TNFRSF11A, RANK, ODFR, OFE</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174800">MAS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320"><span class="gene">GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174700">POLYDACTYLY, PREAXIAL IV</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=165240"><span class="gene">GLI3, PAPA, PAPB, ACLS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174500">PPD2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605522"><span class="gene">LMBR1, ACHP, C7orf2, PPD2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174200">POLYDACTYLY, POSTAXIAL, TYPE A1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=165240"><span class="gene">GLI3, PAPA, PAPB, ACLS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173900">POLYCYSTIC KIDNEYS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601313"><span class="gene">PKD1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173650">KINDLER SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607900"><span class="gene">KIND1, URP1, C20orf42</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173600">PNEUMOTHORAX, PRIMARY SPONTANEOUS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607273"><span class="gene">FLCN, BHD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173100">PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY, AUTOSOMAL DOMINANT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139250"><span class="gene">GH1, GHN</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172870">PPCRA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210"><span class="gene">CRB1, RP12, LCA8</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172800">PBT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602150"><span class="gene">SNAI2, SLUG, WS2D</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171400">MEN2A</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761"><span class="gene">RET, MEN2A</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171200">THIOUREA TASTING</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607751"><span class="gene">TAS2R38, T2R61, PTC</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170650">PERIODONTITIS, AGGRESSIVE, 1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365"><span class="gene">CTSC, CPPI, PALS, PLS, HMS, JPD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170500">HYPP</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967"><span class="gene">SCN4A, HYPP, NAC1A</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170390">ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600681"><span class="gene">KCNJ2, HHIRK1, KIR2.1, IRK1, LQT7, SQT3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=169600">BCPM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384"><span class="gene">ATP2C1, BCPM, HHD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=169500">LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150340"><span class="gene">LMNB1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=169400">PHA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600024"><span class="gene">LBR, PHA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=169150">PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605"><span class="gene">RDS, RP7, PRPH2, PRPH, AVMD, AOFMD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=169100">CHAR SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601601"><span class="gene">TFAP2B, CHAR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168601">PARK1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163890"><span class="gene">SNCA, NACP, PARK1, PARK4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168550">PFMCCD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123101"><span class="gene">MSX2, CRS2, HOX8</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168500">PFM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123101"><span class="gene">MSX2, CRS2, HOX8</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168300">PMC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967"><span class="gene">SCN4A, HYPP, NAC1A</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168000">PGL1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602690"><span class="gene">SDHD, PGL1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167870">PAND1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116790"><span class="gene">COMT</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167400">PAROXYSMAL EXTREME PAIN DISORDER</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603415"><span class="gene">SCN9A, NENA, PN1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167320">IBMPFD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601023"><span class="gene">VCP, IBMPFD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=166780">OTOFACIOCERVICAL SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601653"><span class="gene">EYA1, BOR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=166700">BUSCHKE-OLLENDORFF SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607844"><span class="gene">LEMD3, MAN1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=166600">OPTA2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727"><span class="gene">CLCN7, CLC7, OPTA2, OPTB4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=166350">POH</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320"><span class="gene">GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=166260">GDD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608662"><span class="gene">TMEM16E, GDD1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=166220">OSTEOGENESIS IMPERFECTA, TYPE IV</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150"><span class="gene">COL1A1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=166000">ENCHONDROMATOSIS, MULTIPLE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168468"><span class="gene">PTHR1, PTHR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=165550">OPTIC NERVE HYPOPLASIA, BILATERAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108"><span class="gene">PAX6, AN2, MGDA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=165500">OPA1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605290"><span class="gene">OPA1, NTG, NPG</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=165300">OPTIC ATROPHY 3, AUTOSOMAL DOMINANT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606580"><span class="gene">OPA3, MGA3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164500">SCA7</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607640"><span class="gene">ATXN7, SCA7, OPCA3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164400">SCA1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601556"><span class="gene">ATXN1, ATX1, SCA1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164300">OPMD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602279"><span class="gene">PABPN1, PABP2, PAB2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164280">FEINGOLD SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164840"><span class="gene">MYCN, NMYC, ODED, MODED</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164200">ODDD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121014"><span class="gene">GJA1, CX43, ODDD, SDTY3, ODOD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163950">NS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876"><span class="gene">PTPN11, PTP2C, SHP2, NS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163800">SSS2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605206"><span class="gene">HCN4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163500">CSNBAD2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180072"><span class="gene">PDE6B, PDEB, CSNB3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162900">NEVUS, EPIDERMAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934"><span class="gene">FGFR3, ACH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162800">CYCLIC HEMATOPOIESIS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130130"><span class="gene">ELA2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162500">HNPP</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601097"><span class="gene">PMP22, CMT1A, CMT1E, DSS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162400">HSAN1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605712"><span class="gene">SPTLC1, LBC1, SPT1, HSN1, HSAN</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162300">MEN2B</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761"><span class="gene">RET, MEN2A</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162210">NEUROFIBROMATOSIS, FAMILIAL SPINAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162200"><span class="gene">NF1, VRNF, WSS, NFNS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162200">NF1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609309"><span class="gene">MSH2, COCA1, FCC1, HNPCC1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162100">HNA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604061"><span class="gene">SEPT9, MSF, MSF1, NAPB</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162091">SCHWANNOMATOSIS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607379"><span class="gene">NF2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162000">HNFJ</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845"><span class="gene">UMOD, HNFJ, FJHN, MCKD2, ADMCKD2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=161200">NPS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602575"><span class="gene">LMX1B, NPS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=161000">NAEGELI SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148066"><span class="gene">KRT14</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160980">CNC1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188830"><span class="gene">PRKAR1A, TSE1, CNC1, CAR, PPNAD1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160900">DYSTROPHIA MYOTONICA 1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605377"><span class="gene">DMPK, DM, DMK</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160800">MYOTONIA CONGENITA, AUTOSOMAL DOMINANT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425"><span class="gene">CLCN1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160500">MPD1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760"><span class="gene">MYH7, CMH1, MPD1, CMD1S</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160120">EA1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176260"><span class="gene">KCNA1, AEMK, EA1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159001">LGMD1B</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330"><span class="gene">LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159000">LGMD1A</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103"><span class="gene">TTID, MYOT</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=158590">HMN2A</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014"><span class="gene">HSPB8, H11, E2IG1, DHMN2, CMT2L, HMN2A</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=158350">CD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728"><span class="gene">PTEN, MMAC1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=158300">TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160741"><span class="gene">MYH8</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157170">HPE2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603714"><span class="gene">SIX3, HPE2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156550">KNIEST DYSPLASIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140"><span class="gene">COL2A1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156400">METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168468"><span class="gene">PTHR1, PTHR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156200">MRD1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611472"><span class="gene">MBD5, KIAA1461, MRD1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156000">MENIERE DISEASE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196"><span class="gene">COCH, DFNA9</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155950">MELORHEOSTOSIS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607844"><span class="gene">LEMD3, MAN1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155755">MELANOMA-ASTROCYTOMA SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600160"><span class="gene">CDKN2A, MTS1, P16, MLM, CMM2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155601">CMM2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600160"><span class="gene">CDKN2A, MTS1, P16, MLM, CMM2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155600">CMM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608035"><span class="gene">CMM4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155100">MHA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775"><span class="gene">MYH9, MHA, FTNS, DFNA17</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154780">MARSHALL SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120280"><span class="gene">COL11A1, STL2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154705">MOVED TO 610380</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182"><span class="gene">TGFBR2, HNPCC6, AAT3, MFS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154700">MFS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797"><span class="gene">FBN1, MFS1, WMS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154500">TCOF</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606847"><span class="gene">TCOF1, MFD1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154020">HOMG2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601814"><span class="gene">FXYD2, ATP1G1, HOMG2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153870">MACULAR DYSTROPHY, CONCENTRIC ANNULAR</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854"><span class="gene">BEST1, VMD2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153800">ARMD2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691"><span class="gene">ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153700">VMD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854"><span class="gene">BEST1, VMD2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153650">EPSTEIN SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775"><span class="gene">MYH9, MHA, FTNS, DFNA17</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153640">FTNS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775"><span class="gene">MYH9, MHA, FTNS, DFNA17</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153550">CHROMOSOME 5q DELETION SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147575"><span class="gene">IRF1, MAR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153480">BRRS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728"><span class="gene">PTEN, MMAC1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153400">LYMPHEDEMA-DISTICHIASIS SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602402"><span class="gene">FOXC2, FKHL14, MFH1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153300">YELLOW NAIL SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602402"><span class="gene">FOXC2, FKHL14, MFH1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153200">LYMPHEDEMA, HEREDITARY, II</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602402"><span class="gene">FOXC2, FKHL14, MFH1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153100">LYMPHEDEMA, HEREDITARY, IA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352"><span class="gene">FLT4, VEGFR3, PCL</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153000">MOVED TO 153400</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602402"><span class="gene">FOXC2, FKHL14, MFH1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427">KCNH2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603313"><span class="gene">ALG10, KCR1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151900">LIPOMATOSIS, MULTIPLE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600698"><span class="gene">HMGA2, HMGIC, BABL, LIPO, STQTL9</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151210">PLSDT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140"><span class="gene">COL2A1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151100">LEOPARD SYNDROME 1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876"><span class="gene">PTPN11, PTP2C, SHP2, NS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150800">LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850"><span class="gene">FH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150250">LRS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381"><span class="gene">FLNB, SCT, AOI, LRS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=149200">KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011"><span class="gene">GJB2, CX26, DFNB1, PPK, DFNA3, KID, HID</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148820">WS3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597"><span class="gene">PAX3, WS1, HUP2, CDHS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148350">KERATODERMA, PALMOPLANTAR, WITH DEAFNESS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011"><span class="gene">GJB2, CX26, DFNB1, PPK, DFNA3, KID, HID</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148300">KTCN1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605020"><span class="gene">VSX1, RINX, PPCD, PPD, KTCN</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148210">KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011"><span class="gene">GJB2, CX26, DFNB1, PPK, DFNA3, KID, HID</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148190">KERATITIS, HEREDITARY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108"><span class="gene">PAX6, AN2, MGDA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148000">KAPOSI SARCOMA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147620"><span class="gene">IL6, IFNB2, BSF2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147950">KAL2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350"><span class="gene">FGFR1, FLT2, KAL2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147891">SPS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601719"><span class="gene">TBX4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147750">IVIC SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607343"><span class="gene">SALL4, HSAL4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147480">ICP</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060"><span class="gene">ABCB4, PGY3, MDR3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147250">SMMCI</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600725"><span class="gene">SHH, HPE3, HLP3, SMMCI, MCOPCB5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146800">ICHTHYOSIS, BULLOUS TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600194"><span class="gene">KRT2A, KRT2E</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146700">ICHTHYOSIS VULGARIS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135940"><span class="gene">FLG</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146590">IHCM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139350"><span class="gene">KRT1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146520">HYPOTRICHOSIS SIMPLEX OF SCALP</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602593"><span class="gene">CDSN, HTSS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146510">PHS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=165240"><span class="gene">GLI3, PAPA, PAPB, ACLS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146300">HYPOPHOSPHATASIA, ADULT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760"><span class="gene">ALPL, HOPS, TNSALP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146255">HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131320"><span class="gene">GATA3, HDR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146000">HCH</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934"><span class="gene">FGFR3, ACH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=145980">HHC1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199"><span class="gene">CASR, HHC1, PCAR1, FIH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=145600">MHS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901"><span class="gene">RYR1, MHS, CCO</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=145001">HRPT2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607393"><span class="gene">HRPT2, C1orf28</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=144750">HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS PALATINUS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603506"><span class="gene">LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=144650">HYPERLIPOPROTEINEMIA, TYPE V</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606368"><span class="gene">APOA5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=144250">FCHL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708"><span class="gene">LPL, LIPD, HDLCQ11</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=144010">HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107730"><span class="gene">APOB, FLDB</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143870">HCA2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605205"><span class="gene">SAC, HCA2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143500">GILBERT SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191740"><span class="gene">UGT1A1, UGT1, GNT1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143470">HYPERALPHALIPOPROTEINEMIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118470"><span class="gene">CETP, HDLCQ10</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143200">WGN1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118661"><span class="gene">CSPG2, WGN, WGN1, ERVR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142946">HPE4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630"><span class="gene">TGIF, HPE4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142945">HPE3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600725"><span class="gene">SHH, HPE3, HLP3, SMMCI, MCOPCB5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142900">HOS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620"><span class="gene">TBX5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142680">PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191190"><span class="gene">TNFRSF1A, TNFR1, TNFAR, FPF</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142335">HBFQTL5</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606557"><span class="gene">BCL11A, CTIP1, EVI9, KIAA1809, HBFQTL5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142330">HEPATIC ADENOMAS, FAMILIAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142410"><span class="gene">TCF1, HNF1A, MODY3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141500">FHM1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011"><span class="gene">CACNA1A, CACNL1A4, SCA6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141200">BFH</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120070"><span class="gene">COL4A3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=140350">HAWKINSINURIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609695"><span class="gene">HPD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=140300">HASHIMOTO THYROIDITIS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123890"><span class="gene">CTLA4, IDDM12, CELIAC3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=140000">HAND-FOOT-UTERUS SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142959"><span class="gene">HOXA13, HOX1J</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139300">AEXS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107910"><span class="gene">CYP19A1, CYP19, ARO</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138000">GVM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601749"><span class="gene">GLML, GVM, VMGLOM</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137920">RENAL CYSTS AND DIABETES SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189907"><span class="gene">TCF2, HNF2, MODY5, FJHN</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137600">IRID2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542"><span class="gene">PITX2, IDG2, RIEG1, RGS, IGDS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137580">GTS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609678"><span class="gene">SLITRK1, KIAA1910</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137440">GSD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640"><span class="gene">PRNP, PRIP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136900">SFD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188826"><span class="gene">TIMP3, SFD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136800">FECD1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120252"><span class="gene">COL8A2, FECD, PPCD2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136680">FRASIER SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102"><span class="gene">WT1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136630">MENTAL RETARDATION, FRA12A TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611379"><span class="gene">DIP2B, KIAA1463</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136520">FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108"><span class="gene">PAX6, AN2, MGDA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136120">FED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606967"><span class="gene">LCAT</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135750">LAURIN-SANDROW SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606850"><span class="gene">MIPOL1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135700">CFEOM1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283"><span class="gene">KIF21A, KIAA1708, FEOM1, CFEOM1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135290">DESMOID DISEASE, HEREDITARY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=175100"><span class="gene">APC, GS, FPC</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135150">BHD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607273"><span class="gene">FLCN, BHD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135100">FOP</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576"><span class="gene">ACVR1, ACVRLK2, ALK2, FOP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133780">EVR1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604579"><span class="gene">FZD4, EVR1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133701">EXOSTOSES, MULTIPLE, TYPE II</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608210"><span class="gene">EXT2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133700">EXOSTOSES, MULTIPLE, TYPE I</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608177"><span class="gene">EXT1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133540">CSB</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609413"><span class="gene">ERCC6, CKN2, COFS1, CSB, ARMD5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133100">ERYTHROCYTOSIS, FAMILIAL, 1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133171"><span class="gene">EPOR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133020">ERYTHERMALGIA, PRIMARY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603415"><span class="gene">SCN9A, NENA, PN1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=132900">AAT4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745"><span class="gene">MYH11, AAT4, FAA4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=132700">CYLINDROMATOSIS, FAMILIAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605018"><span class="gene">CYLD1, CDMT, EAC</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=132450">EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140"><span class="gene">COL2A1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=132400">EDM1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600310"><span class="gene">COMP, EDM1, MED, PSACH</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=132000">EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120"><span class="gene">COL7A1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131960">EBS-MP</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148040"><span class="gene">KRT5, DDD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131950">EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601282"><span class="gene">PLEC1, PLTN, EBS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131850">EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120"><span class="gene">COL7A1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131750">DDEB</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120"><span class="gene">COL7A1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131705">TBDN</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120"><span class="gene">COL7A1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131440">MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173410"><span class="gene">PDGFRB, PDGFR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131300">CAMURATI-ENGELMANN DISEASE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190180"><span class="gene">TGFB1, DPD1, CED</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130600">ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182860"><span class="gene">SPTA1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130070">EHLERS-DANLOS SYNDROME, PROGEROID FORM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604327"><span class="gene">B4GALT7, XGALT1, XGPT1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130050">EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120180"><span class="gene">COL3A1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130010">EHLERS-DANLOS SYNDROME, TYPE II</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120215"><span class="gene">COL5A1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129750">ECTOPIA PUPILLAE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108"><span class="gene">PAX6, AN2, MGDA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129600">ECTOPIA LENTIS, ISOLATED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797"><span class="gene">FBN1, MFS1, WMS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129500">ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604418"><span class="gene">GJB6, CX30, DFNA3, HED, ED2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129400">RHS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273"><span class="gene">TP73L, TP63, KET, EEC3, SHFM4, LMS, RHS, OFC8</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=128235">DYT12</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182350"><span class="gene">ATP1A3, DYT12, RDP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=128230">DRD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225"><span class="gene">GCH1, DYT5</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=128100">DYT1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605204"><span class="gene">DYT1, TOR1A</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=127700">DYX1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608706"><span class="gene">DYX1C1, DYXC1, DYX1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=127400">DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601059"><span class="gene">ADAR, DRADA, DSH, DSRAD, IFI4, G1P1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126600">DHRD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601548"><span class="gene">EFEMP1, FBNL, DHRD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125851">MODY2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079"><span class="gene">GCK, HHF3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125800">DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777"><span class="gene">AQP2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125700">DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192340"><span class="gene">AVP, AVRP, VP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125595">DPR</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148066"><span class="gene">KRT14</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125500">DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125485"><span class="gene">DSPP, DPP, DGI1, DFNA39, DTDP2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125490">DGI1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125485"><span class="gene">DSPP, DPP, DGI1, DFNA39, DTDP2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125480">MAFD1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=194355"><span class="gene">XBP1, XBP2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125420">DENTIN DYSPLASIA, TYPE II</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125485"><span class="gene">DSPP, DPP, DGI1, DFNA39, DTDP2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125370">DRPLA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607462"><span class="gene">DRPLA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125310">CADASIL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600276"><span class="gene">NOTCH3, CADASIL, CASIL</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125250">OPTIC ATROPHY 1 AND DEAFNESS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605290"><span class="gene">OPA1, NTG, NPG</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124900">DFNA1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602121"><span class="gene">DIAPH1, DFNA1, LFHL1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124500">DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011"><span class="gene">GJB2, CX26, DFNB1, PPK, DFNA3, KID, HID</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124200">DAR</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740"><span class="gene">ATP2A2, ATP2B, DAR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123790">CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943"><span class="gene">FGFR2, BEK, CFD1, JWS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123500">CROUZON SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943"><span class="gene">FGFR2, BEK, CFD1, JWS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123450">CRI-DU-CHAT SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604275"><span class="gene">CTNND2, NPRAP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123320">CREATINE PHOSPHOKINASE, ELEVATED SERUM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253"><span class="gene">CAV3, LGMD1C</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123000">CMDD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605145"><span class="gene">ANKH, HANK, ANK, CMDJ, CCAL2, CPPDD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122880">CDHS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597"><span class="gene">PAX3, WS1, HUP2, CDHS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122470">CDLS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608667"><span class="gene">NIPBL, CDLS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122200">CDL1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692"><span class="gene">TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121900">CDGG1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692"><span class="gene">TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121850">CORNEAL FLECK DYSTROPHY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609414"><span class="gene">PIP5K3, CFD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121820">CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692"><span class="gene">TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121201">EBN2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602232"><span class="gene">KCNQ3, EBN2, BFNC2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121200">EBN1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235"><span class="gene">KCNQ2, EBN1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120970">CORD2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602225"><span class="gene">CRX, CORD2, CRD, LCA7</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120435">LYNCH SYNDROME I</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609309"><span class="gene">MSH2, COCA1, FCC1, HNPCC1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120430">COLOBOMA OF OPTIC NERVE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108"><span class="gene">PAX6, AN2, MGDA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120330">PAPILLORENAL SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167409"><span class="gene">PAX2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120100">FCAS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416"><span class="gene">CIAS1, FCU, FCAS, NALP3, PYPAF1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=119600">CCD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600211"><span class="gene">RUNX2, CBFA1, PEBP2A1, AML3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=119540">CPI</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608148"><span class="gene">SATB2, KIAA1034</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=119530">OFC1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156570"><span class="gene">MTR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=119500">PPS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607199"><span class="gene">IRF6, VWS, LPS, PIT, PPS, OFC6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=119300">VWS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607199"><span class="gene">IRF6, VWS, LPS, PIT, PPS, OFC6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118800">PNKD1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609023"><span class="gene">MR1, TAHCCP2, KIPP1184, BRP17, PNKD, FPD1, PDC, DYT8</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118700">BHC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600635"><span class="gene">TITF1, NKX2A, TTF1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118600">CCAL2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605145"><span class="gene">ANKH, HANK, ANK, CMDJ, CCAL2, CPPDD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118450">ALGS1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601920"><span class="gene">JAG1, AGS, AHD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118400">CHERUBISM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602104"><span class="gene">SH3BP2, CRPM</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118300">CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601097"><span class="gene">PMP22, CMT1A, CMT1E, DSS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118220">CMT1A</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601097"><span class="gene">PMP22, CMT1A, CMT1E, DSS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118210">CMT2A1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995"><span class="gene">KIF1B, CMT2A, CMT2A1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118200">CMT1B</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440"><span class="gene">MPZ, CMT1B, CMTDI3, CHM, DSS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=117800">EAR WAX, WET/DRY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607040"><span class="gene">ABCC11, MRP8, EWWD, WW</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=117550">SOTOS SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606681"><span class="gene">NSD1, ARA267, STO</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=117300">FDD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603904"><span class="gene">ITM2B, BRI, ABRI, FBD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=117210">SPINOCEREBELLAR ATAXIA, 16q22-LINKED</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609526"><span class="gene">PLEKHG4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=117000">CENTRAL CORE DISEASE OF MUSCLE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901"><span class="gene">RYR1, MHS, CCO</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116920">LAD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065"><span class="gene">ITGB2, CD18, LCAMB, LAD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116860">CCM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604214"><span class="gene">CCM1, CAM, KRIT1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116800">CATARACT, LAMELLAR</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602438"><span class="gene">HSF4, CTM</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116200">CZP1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600897"><span class="gene">GJA8, CX50, CAE1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=115700">CATARACT, CRYSTALLINE ACULEIFORM</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123690"><span class="gene">CRYGD, CRYG4, CCP</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=115310">PGL4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=185470"><span class="gene">SDHB, SDH1, SDHIP, PGL4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=115210">RCM1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191044"><span class="gene">TNNI3, CMH7</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=115197">CMH4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600958"><span class="gene">MYBPC3, CMH4</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=115196">CMH3</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010"><span class="gene">TPM1, CMH3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=115195">CMH2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045"><span class="gene">TNNT2, CMH2, CMD1D</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=115150">CARDIOFACIOCUTANEOUS SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757"><span class="gene">BRAF</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114900">CARCINOID TUMORS, INTESTINAL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602690"><span class="gene">SDHD, PGL1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114400">MOVED TO 120435</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609309"><span class="gene">MSH2, COCA1, FCC1, HNPCC1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114290">CAMPOMELIC DYSPLASIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608160"><span class="gene">SOX9, CMD1, SRA1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114000">CAFFEY DISEASE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150"><span class="gene">COL1A1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113970">BL</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190080"><span class="gene">MYC</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113650">BOR1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601653"><span class="gene">EYA1, BOR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113300">BDE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142989"><span class="gene">HOXD13, HOX4I, SPD, BDSD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113200">BDD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142989"><span class="gene">HOXD13, HOX4I, SPD, BDSD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113100">BDC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601146"><span class="gene">GDF5, CDMP1, SYNS2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113000">BDB1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602337"><span class="gene">ROR2, BDB1, BDB, NTRKR2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112310">BOOMERANG DYSPLASIA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381"><span class="gene">FLNB, SCT, AOI, LRS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112100">YT</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100740"><span class="gene">ACHE, YT</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112050">WR</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270"><span class="gene">SLC4A1, AE1, EPB3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112010">WD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270"><span class="gene">SLC4A1, AE1, EPB3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111750">SC</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017"><span class="gene">ERMAP, SC, RD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111620">RD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017"><span class="gene">ERMAP, SC, RD</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111380">OK</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109480"><span class="gene">BSG</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=110800">Ii</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600429"><span class="gene">GCNT2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=110500">DI</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270"><span class="gene">SLC4A1, AE1, EPB3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=110450">CO</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107776"><span class="gene">AQP1, CHIP28, CO</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=110100">BPES</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605597"><span class="gene">FOXL2, BPES, BPES1, PFRK, POF3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109730">AORTIC VALVE DISEASE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190198"><span class="gene">NOTCH1, TAN1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109400">BCNS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309"><span class="gene">PTCH1, NBCCS, BCNS, HPE7</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109150">MJD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607047"><span class="gene">ATXN3, MJD, SCA3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108985">SCRA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189967"><span class="gene">TEAD1, TCF13, REF1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108900">ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584"><span class="gene">NKX2E, CSX</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108721">AOIII</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381"><span class="gene">FLNB, SCT, AOI, LRS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108720">AOI</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381"><span class="gene">FLNB, SCT, AOI, LRS1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108500">EA2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011"><span class="gene">CACNA1A, CACNL1A4, SCA6</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108300">STL1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140"><span class="gene">COL2A1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108120">DA1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190990"><span class="gene">TPM2, TMSB, AMCD1, DA1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107970">ARVD1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190230"><span class="gene">TGFB3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107480">TBS</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602218"><span class="gene">SALL1, HSAL1, TBS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323">ALDH7A1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323"><span class="gene">ALDH7A1, ATQ1, EPD, PDE</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106260">ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273"><span class="gene">TP73L, TP63, KET, EEC3, SHFM4, LMS, RHS, OFC8</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106210">AN</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108"><span class="gene">PAX6, AN2, MGDA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106100">HAE</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860"><span class="gene">C1NH, HAE1, HAE2, SERPING1</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105500">AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605692"><span class="gene">TRPM7, LTRPC7, CHAK</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105150">AMYLOIDOSIS VI</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604312"><span class="gene">CST3</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105120">AMYLOIDOSIS V</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137350"><span class="gene">GSN</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104510">AI4</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600525"><span class="gene">DLX3, TDO</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104500">AI1B</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606585"><span class="gene">ENAM, AIH2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104310">ALZHEIMER DISEASE 2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107741"><span class="gene">APOE, AD2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104290">ALTERNATING HEMIPLEGIA OF CHILDHOOD</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340"><span class="gene">ATP1A2, FHM2, MHP2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103900">GRA</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610613"><span class="gene">CYP11B1, P450C11, FHI</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103580">PHP1A</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320"><span class="gene">GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103500">TIETZ SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845"><span class="gene">MITF, WS2A</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103285">ADULT SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273"><span class="gene">TP73L, TP63, KET, EEC3, SHFM4, LMS, RHS, OFC8</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103050">ADENYLOSUCCINASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222"><span class="gene">ADSL</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102700">SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958"><span class="gene">ADA</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=101900">AKV</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740"><span class="gene">ATP2A2, ATP2B, DAR</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=101200">APERT SYNDROME</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943"><span class="gene">FGFR2, BEK, CFD1, JWS</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=101000">NF2</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607379"><span class="gene">NF2</span></a></td></tr> <tr><td rowspan=1>1</td><td rowspan=1><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100800">ACH</a></td><td><a href="http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934"><span class="gene">FGFR3, ACH</span></a></td></tr> </table> <hr /> <p class="credit">Database Administrator: Takeru Nakazato</p> <p class="credit">Database Center for Life Science</p> </body> </html>