Illumina Clinical Services Laboratory (Illumina)

Summary of submissions to ClinVar

Total submissions: 208171

Gene

GeneSubmissionsLast Updated
AAAS51Feb 20, 2020
AARS180Feb 20, 2020
AARS2132Feb 20, 2020
ABAT153Feb 20, 2020
ABCA1509Feb 20, 2020
ABCA12170Feb 20, 2020
ABCA3204Feb 20, 2020
ABCA4625Feb 20, 2020
ABCB11110Feb 20, 2020
ABCB4126Feb 20, 2020
ABCB718Feb 20, 2020
ABCC2133Feb 20, 2020
ABCC8408Feb 20, 2020
ABCC9140Jul 16, 2020
ABCD171Feb 20, 2020
ABCG581Feb 20, 2020
ABCG8122Feb 20, 2020
ABHD1251Feb 20, 2020
ABHD181Feb 20, 2020
ABHD5121Feb 20, 2020
ABI14Feb 20, 2020
ACAD861Feb 20, 2020
ACAD967Feb 20, 2020
ACADL3Feb 1, 2019
ACADM53Feb 20, 2020
ACADS59Feb 20, 2020
ACADSB147Feb 20, 2020
ACADVL74Feb 20, 2020
ACAT166Feb 20, 2020
ACBD513Feb 20, 2020
ACBD629Feb 20, 2020
ACE178Feb 20, 2020
ACOX1178Feb 20, 2020
ACTA190Feb 20, 2020
ACTA288Feb 20, 2020
ACTA2-AS122Feb 20, 2020
ACTC1378Feb 20, 2020
ACTN2115Feb 20, 2020
ACVR150Jul 16, 2020
ACVR2B245Feb 20, 2020
ACVR2B-AS13Feb 20, 2020
ACVRL189Feb 20, 2020
ACYP11Feb 20, 2020
ADA40Feb 20, 2020
ADAM966Feb 20, 2020
ADAMTS10117Feb 20, 2020
ADAMTS13129Feb 20, 2020
ADAMTS17343Feb 20, 2020
ADAMTS2196Feb 20, 2020
ADAMTS48Feb 20, 2020
ADAMTSL2132Feb 20, 2020
ADAMTSL4133Feb 20, 2020
ADAMTSL4-AS11Oct 18, 2016
ADAMTSL4-AS245Feb 20, 2020
ADAR134Feb 20, 2020
ADGRG1111Feb 20, 2020
ADGRG328Feb 20, 2020
ADGRV1409Feb 20, 2020
ADK30Feb 20, 2020
ADNP3Apr 1, 2020
ADNP-AS114Feb 20, 2020
ADSL29Feb 20, 2020
AFG3L255Feb 20, 2020
AGA60Feb 20, 2020
AGK145Feb 20, 2020
AGL129Feb 20, 2020
AGPAT278Feb 20, 2020
AGPS155Feb 20, 2020
AGT71Feb 20, 2020
AGTR155Feb 20, 2020
AGXT63Feb 20, 2020
AHCY43Feb 20, 2020
AHI1119Feb 20, 2020
AICDA61Feb 20, 2020
AIFM127Feb 20, 2020
AIP38Feb 20, 2020
AIPL1288Feb 20, 2020
AKAP9110Feb 1, 2019
AKR1D196Feb 20, 2020
AKT314Feb 20, 2020
ALAD88Feb 20, 2020
ALAS231Feb 20, 2020
ALB54Feb 20, 2020
ALDH18A174Apr 1, 2020
ALDH3A278Feb 20, 2020
ALDH4A1114Feb 20, 2020
ALDH5A1136Feb 20, 2020
ALDH6A196Feb 20, 2020
ALDH7A1141Feb 20, 2020
ALDOA22Oct 18, 2016
ALDOB64Feb 20, 2020
ALG1147Feb 20, 2020
ALG1276Feb 20, 2020
ALG23Oct 18, 2016
ALG338Feb 20, 2020
ALG666Feb 20, 2020
ALG837Feb 20, 2020
ALG984Feb 20, 2020
ALK167Feb 20, 2020
ALMS156Feb 20, 2020
ALOX12B73Feb 20, 2020
ALOXE375Feb 20, 2020
ALPL70Feb 20, 2020
ALS2226Feb 20, 2020
ALX4164Feb 20, 2020
AMACR87Feb 20, 2020
AMPD12Oct 18, 2016
AMPD3111Feb 20, 2020
AMT48Feb 20, 2020
ANAPC1546Feb 20, 2020
ANG34Feb 20, 2020
ANGPT25Feb 20, 2020
ANK1427Feb 20, 2020
ANK2251Feb 20, 2020
ANKH445Feb 20, 2020
ANKIB116Feb 20, 2020
ANKRD156Feb 20, 2020
ANKRD26138Feb 20, 2020
ANO1091Feb 20, 2020
ANO5336Feb 20, 2020
ANTXR2146Feb 20, 2020
AOPEP94Feb 20, 2020
AP3B187Feb 20, 2020
AP3M14Feb 20, 2020
AP5Z1284Feb 20, 2020
APC194Feb 20, 2020
APEX21Feb 20, 2020
APIP13Feb 20, 2020
APOA142Feb 20, 2020
APOA1-AS28Feb 20, 2020
APOA29Feb 20, 2020
APOB624Feb 20, 2020
APOB3'MAR31Feb 20, 2020
APOC223Feb 20, 2020
APOC4-APOC223Feb 20, 2020
APP79Feb 20, 2020
APRT55Feb 20, 2020
APTX73Feb 20, 2020
AQP2102Feb 20, 2020
AREL11Feb 20, 2020
ARFGEF1-DT24Feb 20, 2020
ARFGEF2144Feb 20, 2020
ARG120Feb 20, 2020
ARHGAP315Oct 18, 2016
ARHGEF67Oct 18, 2016
ARID1A1Jul 16, 2020
ARID1B1Jul 16, 2020
ARL13B2Feb 1, 2019
ARL650Feb 20, 2020
ARMS243Feb 20, 2020
ARSA131Feb 20, 2020
ARSB136Feb 20, 2020
ASAH193Feb 20, 2020
ASH1L3Jul 16, 2020
ASL44Feb 20, 2020
ASPA16Feb 1, 2019
ASPM248Feb 20, 2020
ASS165Feb 20, 2020
ASTN2133Feb 20, 2020
ASXL16Oct 18, 2016
ATCAY137Feb 20, 2020
ATL144Feb 20, 2020
ATM264Feb 20, 2020
ATP13A2117Jul 16, 2020
ATP1A2264Feb 20, 2020
ATP1A3143Jul 16, 2020
ATP2A168Feb 20, 2020
ATP2A1-AS11Feb 20, 2020
ATP2A287Feb 20, 2020
ATP2C170Feb 20, 2020
ATP6V0A2185Feb 20, 2020
ATP6V0A489Feb 20, 2020
ATP6V1B152Feb 20, 2020
ATP6V1B1-AS13Feb 20, 2020
ATP7B199Feb 20, 2020
ATP8B1152Feb 20, 2020
ATPAF234Feb 20, 2020
ATR128Feb 20, 2020
ATRIP66Feb 20, 2020
ATRIP-TREX166Feb 20, 2020
AUH26Feb 20, 2020
AUP114Feb 20, 2020
AURKC29Feb 20, 2020
AVIL4Feb 20, 2020
AVPR241Feb 20, 2020
AXDND123Feb 20, 2020
AXIN2117Feb 20, 2020
B3GALNT214Feb 20, 2020
B3GLCT96Feb 20, 2020
B4GALT113Oct 18, 2016
B9D117Feb 20, 2020
BAAT87Feb 20, 2020
BAG238Feb 20, 2020
BAG3138Feb 20, 2020
BANF127Feb 20, 2020
BAP173Feb 20, 2020
BARD163Feb 20, 2020
BBOF194Feb 20, 2020
BBS174Feb 20, 2020
BBS1079Feb 20, 2020
BBS1263Feb 20, 2020
BBS273Feb 20, 2020
BBS458Feb 20, 2020
BBS756Feb 20, 2020
BBS993Apr 1, 2020
BCHE54Feb 20, 2020
BCKDHA67Feb 20, 2020
BCKDHB74Feb 20, 2020
BCL11A1Jul 16, 2020
BCS1L72Feb 20, 2020
BEST1227Feb 20, 2020
BFSP238Feb 20, 2020
BFSP2-AS121Feb 20, 2020
BIN184Feb 20, 2020
BIVM-ERCC5114Feb 20, 2020
BLK99Feb 20, 2020
BLM75Feb 20, 2020
BLOC1S1-RDH529Feb 20, 2020
BLOC1S32Oct 18, 2016
BLOC1S63Oct 18, 2016
BMP1134Feb 20, 2020
BMP1519Feb 20, 2020
BMP4112Feb 20, 2020
BMPER113Feb 20, 2020
BMPR1A64Feb 20, 2020
BMPR1B122Feb 20, 2020
BMPR2196Feb 20, 2020
BOLA312Feb 20, 2020
BORCS86Feb 20, 2020
BORCS8-MEF2B6Feb 20, 2020
BPNT2172Feb 20, 2020
BRAF94Feb 20, 2020
BRCA1145Feb 20, 2020
BRCA2450Feb 20, 2020
BRIP1179Feb 20, 2020
BRWD3102Feb 20, 2020
BSCL276Feb 20, 2020
BSND41Feb 20, 2020
BTD27Feb 1, 2019
BTK38Feb 20, 2020
C10orf10577Feb 20, 2020
C10orf5564Feb 20, 2020
C11orf65134Feb 20, 2020
C12orf2935Feb 20, 2020
C12orf4325Feb 20, 2020
C12orf6547Feb 20, 2020
C17orf10733Feb 20, 2020
C19orf12140Apr 1, 2020
C1QTNF3-AMACR87Feb 20, 2020
C1QTNF5273Feb 20, 2020
C1orf16711Oct 18, 2016
C2214Feb 20, 2020
C2-AS122Feb 20, 2020
C2orf8851Feb 20, 2020
C3382Feb 20, 2020
C3orf804Feb 20, 2020
C4orf462Oct 18, 2016
C8orf37118Feb 20, 2020
C8orf37-AS113Feb 20, 2020
C9orf7286Feb 20, 2020
CA230Feb 20, 2020
CA3-AS17Feb 20, 2020
CA430Feb 20, 2020
CABP4123Feb 20, 2020
CACNA1A4Jul 16, 2020
CACNA1C24Oct 18, 2016
CACNA1C-AS12Oct 18, 2016
CACNA1S238Feb 20, 2020
CACNA2D4173Feb 20, 2020
CACNB220Oct 18, 2016
CACNB4250Feb 20, 2020
CAMK2G1Apr 1, 2020
CANT1102Feb 20, 2020
CAPN3136Jul 16, 2020
CARD966Feb 20, 2020
CASD119Feb 20, 2020
CASP10121Feb 20, 2020
CASP857Feb 20, 2020
CASQ2147Feb 20, 2020
CASR248Feb 20, 2020
CATIP-AS266Feb 20, 2020
CATSPER171Feb 20, 2020
CAV3108Feb 20, 2020
CAVIN163Feb 20, 2020
CBARP4Feb 20, 2020
CBL259Feb 20, 2020
CBLIF31Feb 20, 2020
CBR455Feb 20, 2020
CBS88Feb 20, 2020
CC2D2A267Feb 20, 2020
CCBE1216Feb 20, 2020
CCDC10345Feb 20, 2020
CCDC126Feb 20, 2020
CCDC14014Feb 20, 2020
CCDC18910Oct 18, 2016
CCDC333Oct 18, 2016
CCDC39116Feb 20, 2020
CCDC40177Feb 20, 2020
CCN620Feb 20, 2020
CCNF1Feb 20, 2020
CCNH90Feb 20, 2020
CCT5100Feb 20, 2020
CD1944Feb 20, 2020
CD2AP131Feb 20, 2020
CD3693Feb 20, 2020
CD3D17Feb 20, 2020
CD3E33Feb 20, 2020
CD3G32Feb 20, 2020
CD4036Feb 20, 2020
CD4661Feb 20, 2020
CD741Oct 18, 2016
CD9611Feb 1, 2019
CDAN1146Feb 20, 2020
CDC637Feb 20, 2020
CDC73315Feb 20, 2020
CDCA7L25Feb 20, 2020
CDH1110Feb 20, 2020
CDH231059Feb 20, 2020
CDH23-AS130Feb 20, 2020
CDH3112Feb 20, 2020
CDHR1169Feb 20, 2020
CDK440Feb 20, 2020
CDK5RAP2118Feb 20, 2020
CDKN1B72Feb 20, 2020
CDON255Feb 20, 2020
CENPJ237Feb 20, 2020
CEP12815Feb 20, 2020
CEP152211Feb 20, 2020
CEP290715Feb 20, 2020
CEP41139Feb 20, 2020
CEP85L37Feb 20, 2020
CERKL87Feb 20, 2020
CETP54Feb 20, 2020
CFAP1261Oct 18, 2016
CFAP9217Feb 20, 2020
CFB193Feb 20, 2020
CFH333Feb 20, 2020
CFHR575Feb 20, 2020
CFI59Feb 20, 2020
CFL242Feb 20, 2020
CFTR169Jul 16, 2020
CFTR-AS122Feb 20, 2020
CGREF143Feb 20, 2020
CHD7249Feb 20, 2020
CHD81Jul 16, 2020
CHEK246Feb 20, 2020
CHIT190Feb 20, 2020
CHKB42Feb 20, 2020
CHKB-CPT1B42Feb 20, 2020
CHMP2B79Feb 20, 2020
CHN151Feb 20, 2020
CHPT197Feb 20, 2020
CHRNA198Feb 20, 2020
CHRNA2115Feb 20, 2020
CHRNB163Feb 20, 2020
CHRNB266Feb 20, 2020
CHRND164Feb 20, 2020
CHRNE112Feb 20, 2020
CHRNG180Feb 20, 2020
CHROMR25Feb 20, 2020
CHST3635Feb 20, 2020
CHST6193Feb 20, 2020
CIAPIN15Feb 20, 2020
CIC1Jul 16, 2020
CIITA146Feb 20, 2020
CLASP12Apr 1, 2020
CLCC117Feb 20, 2020
CLCN185Feb 20, 2020
CLCN5108Feb 20, 2020
CLCN7152Feb 20, 2020
CLDN1454Feb 20, 2020
CLDN1677Feb 20, 2020
CLDN1967Feb 20, 2020
CLN391Feb 20, 2020
CLN582Feb 20, 2020
CLN682Feb 20, 2020
CLRN160Feb 20, 2020
CLRN1-AS111Feb 20, 2020
CNGA153Feb 20, 2020
CNGA390Feb 20, 2020
CNGB1210Feb 20, 2020
CNGB3222Feb 20, 2020
CNNM258Feb 20, 2020
CNNM485Feb 20, 2020
CNTNAP2396Feb 20, 2020
COCH46Feb 20, 2020
COG169Feb 20, 2020
COG5121Feb 20, 2020
COG686Feb 20, 2020
COG762Feb 20, 2020
COG844Feb 20, 2020
COL10A185Feb 20, 2020
COL11A1361Feb 20, 2020
COL11A2544Feb 20, 2020
COL17A1168Feb 20, 2020
COL18A1206Feb 20, 2020
COL1A1471Feb 20, 2020
COL1A2243Jul 16, 2020
COL1A2-AS112Feb 20, 2020
COL2A1248Apr 1, 2020
COL3A1116Feb 20, 2020
COL4A1474Feb 20, 2020
COL4A2226Feb 20, 2020
COL4A2-AS127Feb 20, 2020
COL4A2-AS214Feb 20, 2020
COL4A3191Feb 20, 2020
COL4A4252Feb 20, 2020
COL5A1282Feb 20, 2020
COL5A2202Feb 20, 2020
COL6A1197Feb 20, 2020
COL6A2368Jul 16, 2020
COL6A3327Feb 20, 2020
COL7A1251Feb 20, 2020
COL9A19Feb 1, 2019
COL9A293Feb 20, 2020
COL9A35Feb 1, 2019
COLQ81Feb 20, 2020
COMETT8Feb 20, 2020
COMP127Feb 20, 2020
COPB24Feb 20, 2020
COQ23Feb 1, 2019
COQ8A149Feb 20, 2020
COQ941Feb 20, 2020
COX10170Feb 20, 2020
COX10-AS12Oct 18, 2016
COX15124Feb 20, 2020
COX4I21Oct 18, 2016
COX6B19Feb 20, 2020
CP162Feb 20, 2020
CPA655Feb 20, 2020
CPLANE1214Feb 20, 2020
CPO92Feb 20, 2020
CPOX80Feb 20, 2020
CPS1128Apr 1, 2020
CPT261Feb 20, 2020
CRB1223Feb 20, 2020
CREBBP2Jul 16, 2020
CRPPA214Feb 20, 2020
CRPPA-AS111Feb 20, 2020
CRTAP185Feb 20, 2020
CRX411Feb 20, 2020
CRYAA29Feb 20, 2020
CRYAB45Feb 20, 2020
CRYBA418Feb 20, 2020
CRYBB128Feb 20, 2020
CRYBB341Feb 20, 2020
CRYGD26Feb 20, 2020
CSF1R130Jul 16, 2020
CSNK2B1Jul 16, 2020
CSRP344Feb 20, 2020
CSRP3-AS118Feb 20, 2020
CSTB27Feb 20, 2020
CTC1229Feb 20, 2020
CTF13Oct 18, 2016
CTH54Feb 20, 2020
CTNNB11Apr 1, 2020
CTNS321Feb 20, 2020
CTRC35Feb 20, 2020
CTSA47Feb 20, 2020
CTSC95Feb 20, 2020
CTSD73Feb 20, 2020
CTSK19Feb 20, 2020
CUBN345Feb 20, 2020
CUL3182Feb 20, 2020
CUL7129Feb 20, 2020
CUTC13Feb 20, 2020
CYB561A37Oct 18, 2016
CYCS13Oct 18, 2016
CYFIP21Jul 16, 2020
CYGB56Feb 20, 2020
CYLD345Feb 20, 2020
CYP11A131Feb 20, 2020
CYP11B1238Feb 20, 2020
CYP11B2276Feb 20, 2020
CYP17A130Feb 20, 2020
CYP17A1-AS13Feb 20, 2020
CYP19A190Feb 20, 2020
CYP1B1252Feb 20, 2020
CYP24A199Feb 20, 2020
CYP27A159Feb 20, 2020
CYP27B138Feb 20, 2020
CYP4F2266Feb 20, 2020
CYP4V2291Feb 20, 2020
CYP7B146Feb 20, 2020
CZIB3Oct 18, 2016
D2HGDH118Feb 20, 2020
DAAM223Feb 20, 2020
DARS244Feb 20, 2020
DBH129Feb 20, 2020
DBH-AS115Feb 20, 2020
DBNL26Feb 20, 2020
DBT170Feb 20, 2020
DCAF17119Feb 20, 2020
DCLRE1C102Feb 20, 2020
DCN41Feb 20, 2020
DCTN1169Feb 20, 2020
DDB237Feb 20, 2020
DDC55Feb 20, 2020
DDC-AS18Feb 20, 2020
DDOST59Feb 20, 2020
DDR255Feb 20, 2020
DENND1174Feb 20, 2020
DENND4A19Feb 20, 2020
DES170Feb 20, 2020
DES-LCR11Feb 20, 2020
DGUOK33Feb 20, 2020
DGUOK-AS16Feb 20, 2020
DHCR2492Feb 20, 2020
DHCR7103Feb 20, 2020
DHDDS66Feb 20, 2020
DHH30Feb 20, 2020
DHODH76Feb 20, 2020
DIAPH1119Feb 20, 2020
DICER1174Feb 20, 2020
DIPK1A15Feb 20, 2020
DIS3L299Feb 20, 2020
DLAT1Feb 1, 2019
DLD223Feb 20, 2020
DLG46Feb 20, 2020
DLL3133Feb 20, 2020
DLX369Feb 20, 2020
DMD209Feb 20, 2020
DMP166Feb 20, 2020
DNAAF193Feb 20, 2020
DNAAF285Feb 20, 2020
DNAAF3118Feb 20, 2020
DNAH11322Feb 20, 2020
DNAH5434Feb 20, 2020
DNAI159Feb 20, 2020
DNAI280Feb 20, 2020
DNAJB6104Feb 20, 2020
DNAJC193Oct 18, 2016
DNAJC5257Feb 20, 2020
DNAJC9-AS19Oct 18, 2016
DNAL129Oct 18, 2016
DNASE1L111Feb 20, 2020
DNM1L81Feb 20, 2020
DNM2190Feb 20, 2020
DNMT1107Feb 20, 2020
DNMT3B114Feb 20, 2020
DOCK8204Feb 20, 2020
DOCK8-AS19Feb 20, 2020
DOLK43Feb 20, 2020
DPAGT148Feb 20, 2020
DPM123Feb 20, 2020
DPM232Feb 20, 2020
DPM32Feb 20, 2020
DPYD100Feb 20, 2020
DPYD-AS112Feb 20, 2020
DPYS47Feb 20, 2020
DRD323Feb 20, 2020
DSC2121Feb 20, 2020
DSCAS18Feb 20, 2020
DSG1-AS1100Feb 20, 2020
DSG2189Feb 20, 2020
DSG2-AS1114Feb 20, 2020
DSG4100Feb 20, 2020
DSP616Feb 20, 2020
DST96Oct 18, 2016
DTNA5Oct 18, 2016
DTNBP17Feb 1, 2019
DUOX2212Feb 20, 2020
DUS4L16Feb 20, 2020
DUS4L-BCAP2916Feb 20, 2020
DUSP294Oct 18, 2016
DYM83Feb 20, 2020
DYNC1H1369Jul 16, 2020
DYNC2H1420Feb 20, 2020
DYNC2LI156Feb 20, 2020
DYSF429Feb 20, 2020
EARS286Feb 20, 2020
EDAR155Feb 20, 2020
EDARADD112Feb 20, 2020
EDN379Feb 20, 2020
EDNRB80Feb 20, 2020
EDNRB-AS160Feb 20, 2020
EFEMP160Feb 20, 2020
EFEMP241Feb 20, 2020
EFHC174Feb 1, 2019
EGF126Feb 20, 2020
EGFR1Oct 18, 2016
EGLN1156Feb 20, 2020
EGR232Feb 20, 2020
EHMT15Oct 18, 2016
EIF1AD5Feb 20, 2020
EIF2AK373Feb 20, 2020
EIF2B148Feb 20, 2020
EIF2B247Feb 20, 2020
EIF2B344Feb 20, 2020
EIF2B444Feb 20, 2020
EIF2B546Feb 20, 2020
EIF2B5-DT7Oct 18, 2016
EIF3J4Feb 20, 2020
ELN212Feb 20, 2020
ELOVL471Feb 20, 2020
ELP1155Feb 20, 2020
ELP4588Feb 20, 2020
EMC45Feb 20, 2020
EML310Feb 20, 2020
ENAM101Feb 20, 2020
ENG112Feb 20, 2020
ENO331Feb 20, 2020
ENPP1386Feb 20, 2020
ENTPD739Feb 20, 2020
EP30028Jul 16, 2020
EPAS1150Feb 20, 2020
EPB4253Feb 20, 2020
EPCAM3Oct 18, 2016
EPHA2109Feb 20, 2020
EPOR54Feb 20, 2020
ERCC12Feb 1, 2019
ERCC2102Feb 20, 2020
ERCC359Feb 20, 2020
ERCC4162Feb 20, 2020
ERCC5114Feb 20, 2020
ERCC6572Feb 20, 2020
ERCC6-PGBD3121Feb 20, 2020
ERCC864Feb 20, 2020
ERCC8-AS13Feb 20, 2020
ESCO273Feb 20, 2020
ESR150Feb 20, 2020
ESR214Feb 20, 2020
ESRRB70Feb 20, 2020
ETFA30Feb 20, 2020
ETFDH44Feb 20, 2020
ETHE131Feb 20, 2020
EVC279Feb 20, 2020
EVC2152Feb 20, 2020
EXOSC340Feb 20, 2020
EXT157Feb 20, 2020
EXT294Feb 20, 2020
EYA1221Feb 20, 2020
EYA4197Feb 20, 2020
EYS230Feb 20, 2020
EZH25Oct 18, 2016
F1059Feb 20, 2020
F10-AS15Feb 20, 2020
F1185Feb 20, 2020
F11-AS142Feb 20, 2020
F12127Feb 20, 2020
F13A173Feb 20, 2020
F13B44Feb 20, 2020
F277Feb 20, 2020
F5905Feb 20, 2020
F7103Feb 20, 2020
F866Jul 16, 2020
F934Feb 20, 2020
FA2H67Feb 20, 2020
FAH71Feb 20, 2020
FAM104A5Feb 20, 2020
FAM126A128Feb 20, 2020
FAM161A80Feb 20, 2020
FAM20A124Feb 20, 2020
FANCA201Feb 20, 2020
FANCB90Feb 20, 2020
FANCC116Feb 20, 2020
FANCD2121Feb 20, 2020
FANCD2OS38Feb 20, 2020
FANCE63Feb 20, 2020
FANCF76Feb 20, 2020
FANCG70Feb 20, 2020
FANCI180Feb 20, 2020
FANCL47Feb 20, 2020
FANCM4Oct 18, 2016
FAS83Feb 20, 2020
FASLG39Feb 20, 2020
FASTKD2156Feb 20, 2020
FBLN5114Feb 20, 2020
FBN11652Jul 16, 2020
FBN2267Feb 20, 2020
FBP152Feb 20, 2020
FBXL359Feb 20, 2020
FBXL813Feb 20, 2020
FBXO111Feb 20, 2020
FBXO749Feb 20, 2020
FBXW111Apr 1, 2020
FBXW444Feb 20, 2020
FECH131Feb 20, 2020
FERMT1157Feb 20, 2020
FGA65Feb 20, 2020
FGB80Feb 20, 2020
FGD4175Feb 20, 2020
FGF1014Feb 20, 2020
FGF1460Feb 20, 2020
FGF23124Feb 20, 2020
FGF9103Feb 20, 2020
FGFR1554Feb 20, 2020
FGFR2519Feb 20, 2020
FGG27Feb 20, 2020
FH146Feb 20, 2020
FHOD31Apr 1, 2020
FIG4120Feb 20, 2020
FIGLA22Feb 20, 2020
FKBP1071Feb 20, 2020
FKTN232Feb 20, 2020
FLCN189Feb 20, 2020
FLNA1Jul 16, 2020
FLNB258Feb 20, 2020
FLNB-AS121Feb 20, 2020
FLVCR1149Apr 1, 2020
FLVCR269Feb 20, 2020
FMO355Feb 20, 2020
FOLR117Feb 20, 2020
FOXF111Oct 18, 2016
FOXH166Feb 20, 2020
FOXI154Feb 20, 2020
FOXN169Feb 20, 2020
FOXP149Oct 18, 2016
FOXP2122Feb 20, 2020
FOXRED150Feb 20, 2020
FRA11B9Feb 20, 2020
FRAS1442Feb 20, 2020
FREM1281Feb 20, 2020
FREM2367Feb 20, 2020
FRMD741Feb 20, 2020
FSHB25Feb 20, 2020
FSHR109Feb 20, 2020
FTCD57Feb 1, 2019
FTCD-AS11Oct 18, 2016
FTH1116Feb 20, 2020
FTL97Feb 20, 2020
FTO115Feb 20, 2020
FUCA138Feb 20, 2020
FUS144Jul 16, 2020
FXYD221Feb 20, 2020
FXYD6-FXYD221Feb 20, 2020
FYCO1205Feb 20, 2020
FZD4130Feb 20, 2020
G6PC99Feb 20, 2020
G6PC334Feb 20, 2020
G6PD44Feb 20, 2020
GAA176Feb 20, 2020
GABRA1104Feb 20, 2020
GABRG278Feb 20, 2020
GAD165Feb 20, 2020
GALC104Apr 1, 2020
GALE43Feb 20, 2020
GALK1111Feb 20, 2020
GALNS139Feb 20, 2020
GALNT351Feb 20, 2020
GALT33Feb 20, 2020
GAMT61Feb 20, 2020
GAN124Apr 1, 2020
GAREM283Feb 20, 2020
GARS1215Jul 16, 2020
GATA276Feb 20, 2020
GATA2-AS17Feb 20, 2020
GATA379Feb 20, 2020
GATAD135Feb 20, 2020
GATAD2B1Apr 1, 2020
GATM37Feb 20, 2020
GBA2Oct 18, 2016
GBE1141Feb 20, 2020
GCDH47Feb 20, 2020
GCH1149Feb 20, 2020
GCK240Feb 20, 2020
GCM252Feb 20, 2020
GCNT296Feb 20, 2020
GDAP1185Feb 20, 2020
GDF5200Feb 20, 2020
GDF5-AS195Feb 20, 2020
GDF691Feb 20, 2020
GDF93Feb 20, 2020
GDNF85Feb 20, 2020
GFAP22Feb 20, 2020
GFI111Oct 18, 2016
GFM173Feb 20, 2020
GFM23Feb 20, 2020
GFPT1172Feb 20, 2020
GGACT10Feb 20, 2020
GGCX202Feb 20, 2020
GH-LCR793Feb 20, 2020
GH148Feb 20, 2020
GHR94Feb 20, 2020
GHRHR53Feb 20, 2020
GHSR70Feb 20, 2020
GIGYF254Feb 20, 2020
GJA1190Feb 20, 2020
GJA3110Feb 20, 2020
GJA537Feb 20, 2020
GJA851Feb 20, 2020
GJB118Jul 16, 2020
GJB2222Feb 20, 2020
GJB374Feb 20, 2020
GJB654Feb 20, 2020
GLA21Feb 20, 2020
GLB1116Feb 20, 2020
GLDC118Feb 20, 2020
GLE1116Feb 20, 2020
GLI2158Feb 20, 2020
GLI3582Feb 20, 2020
GLIS2104Feb 20, 2020
GLIS3247Feb 20, 2020
GLIS3-AS18Feb 20, 2020
GLMN42Feb 20, 2020
GLRA139Feb 20, 2020
GLRB64Feb 20, 2020
GLUD154Feb 20, 2020
GLUL133Feb 20, 2020
GM2A92Feb 20, 2020
GML13Feb 20, 2020
GNAS1Apr 1, 2020
GNAT152Feb 20, 2020
GNAT226Feb 20, 2020
GNE274Feb 20, 2020
GNPAT64Feb 20, 2020
GNPTAB239Feb 20, 2020
GNPTG50Feb 20, 2020
GNRH121Feb 20, 2020
GNRHR114Feb 20, 2020
GNS87Feb 20, 2020
GORAB53Feb 20, 2020
GORAB-AS16Feb 20, 2020
GOSR252Feb 20, 2020
GP929Feb 20, 2020
GPC6128Feb 20, 2020
GPC6-AS22Feb 20, 2020
GPD1L2Oct 18, 2016
GPHN38Feb 20, 2020
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POF1B66Feb 20, 2020
POLD11Jul 16, 2020
POLG169Feb 20, 2020
POLG226Jul 16, 2020
POLH231Feb 20, 2020
POLR1C36Feb 20, 2020
POLR2F80Feb 20, 2020
POLR3A181Jul 16, 2020
POLR3B74Apr 1, 2020
POMC53Feb 20, 2020
POMGNT192Feb 20, 2020
POMT1100Feb 20, 2020
POMT2124Feb 20, 2020
POR124Feb 20, 2020
POU1F148Feb 20, 2020
POU3F412Feb 20, 2020
POU4F324Apr 1, 2020
PPARG60Feb 20, 2020
PPIB41Feb 20, 2020
PPOX33Feb 20, 2020
PPP2R1A1Jul 16, 2020
PPT168Feb 20, 2020
PQBP110Feb 20, 2020
PRCD56Feb 20, 2020
PRDM162Feb 20, 2020
PRDM542Feb 20, 2020
PREPL18Feb 20, 2020
PRF173Feb 20, 2020
PRICKLE16Oct 18, 2016
PRICKLE2158Feb 20, 2020
PRICKLE2-AS1108Feb 20, 2020
PRICKLE2-AS32Feb 20, 2020
PRKAG2232Feb 20, 2020
PRKAG2-AS115Feb 20, 2020
PRKAR1A168Feb 20, 2020
PRKCG52Feb 20, 2020
PRKCSH76Feb 20, 2020
PRKN118Feb 20, 2020
PRKRA63Feb 20, 2020
PRNP54Feb 20, 2020
PROC47Feb 20, 2020
PROKR235Feb 20, 2020
PROM1454Feb 20, 2020
PROP135Feb 20, 2020
PROS179Feb 20, 2020
PRPF334Feb 20, 2020
PRPF3162Feb 20, 2020
PRPF670Feb 20, 2020
PRPF8110Feb 20, 2020
PRPH2494Feb 20, 2020
PRPS177Feb 20, 2020
PRSS11Oct 18, 2016
PRSS12101Feb 20, 2020
PRSS23118Feb 20, 2020
PRSS531Oct 18, 2016
PRX130Feb 20, 2020
PSAP548Feb 20, 2020
PSAT150Feb 20, 2020
PSEN1254Feb 20, 2020
PSEN2124Feb 20, 2020
PSMB825Feb 20, 2020
PSPH71Feb 20, 2020
PSTPIP169Feb 20, 2020
PTCH1384Jul 16, 2020
PTCHD1-AS17Feb 20, 2020
PTEN132Jul 16, 2020
PTF1A30Feb 20, 2020
PTH13Feb 20, 2020
PTH1R96Feb 20, 2020
PTPN11274Jul 16, 2020
PTS16Feb 20, 2020
PURG10Feb 20, 2020
PUS155Feb 20, 2020
PUS108Feb 20, 2020
PYCR148Feb 20, 2020
PYGL58Feb 20, 2020
PYGM87Feb 20, 2020
PYY19Feb 20, 2020
QDPR47Feb 20, 2020
RAB18114Feb 20, 2020
RAB2366Feb 20, 2020
RAB27A97Feb 20, 2020
RAB33A27Feb 20, 2020
RAB33B76Feb 20, 2020
RAB33B-AS111Oct 18, 2016
RAB39B30Feb 20, 2020
RAB3GAP184Feb 20, 2020
RAB3GAP2279Feb 20, 2020
RAB7A62Feb 20, 2020
RABEP22Feb 20, 2020
RAD211Jul 16, 2020
RAD51C36Feb 20, 2020
RAD51D3Oct 18, 2016
RAD51L3-RFFL3Oct 18, 2016
RAD5213Feb 20, 2020
RAF1137Jul 16, 2020
RAG1225Feb 20, 2020
RAG290Feb 20, 2020
RANBP2109Feb 20, 2020
RAPSN110Feb 20, 2020
RARS251Feb 20, 2020
RASA1118Feb 20, 2020
RAX83Feb 20, 2020
RAX2147Feb 20, 2020
RB193Feb 20, 2020
RBBP84Feb 1, 2019
RBM20163Feb 20, 2020
RBP3104Feb 20, 2020
RD3123Feb 20, 2020
RDH1249Feb 20, 2020
RDH529Feb 20, 2020
RDX108Feb 20, 2020
REEP180Feb 20, 2020
RELN232Feb 20, 2020
REN56Feb 20, 2020
RER123Feb 20, 2020
RET624Feb 20, 2020
RETREG160Feb 20, 2020
RFT1123Feb 20, 2020
RFX561Feb 20, 2020
RFXANK35Feb 20, 2020
RFXAP44Feb 20, 2020
RGR33Feb 20, 2020
RHBDF2114Feb 20, 2020
RHO160Feb 20, 2020
RIF197Feb 20, 2020
RIMS1145Feb 20, 2020
RIPK4120Feb 20, 2020
RLBP1157Feb 20, 2020
RMC14Feb 20, 2020
RMDN280Feb 20, 2020
RNASE431Feb 20, 2020
RNASEH2A37Feb 20, 2020
RNASEH2B42Feb 20, 2020
RNASEH2B-AS112Feb 20, 2020
RNASEH2C69Feb 20, 2020
RNASET245Apr 1, 2020
RNF1796Feb 20, 2020
RNU4ATAC2Apr 1, 2020
ROBO2161Feb 20, 2020
ROBO3114Feb 20, 2020
ROGDI56Feb 20, 2020
ROM148Feb 20, 2020
ROR2239Feb 20, 2020
RP1114Apr 1, 2020
RP1L1423Feb 20, 2020
RP244Feb 20, 2020
RP915Feb 20, 2020
RPAP21Feb 20, 2020
RPE65136Feb 20, 2020
RPGRIP1173Feb 20, 2020
RPGRIP1L392Feb 20, 2020
RPIA32Feb 20, 2020
RPL1113Feb 20, 2020
RPL35A10Feb 20, 2020
RPL36A-HNRNPH221Feb 20, 2020
RPL533Feb 20, 2020
RPL612Feb 20, 2020
RPS1025Feb 20, 2020
RPS10-NUDT324Feb 20, 2020
RPS1928Feb 20, 2020
RPS2431Feb 20, 2020
RPS2619Feb 20, 2020
RPS717Feb 20, 2020
RRH3Feb 20, 2020
RRM2B174Feb 20, 2020
RSPH4A57Feb 20, 2020
RSPH920Feb 20, 2020
RTN220Feb 20, 2020
RTTN1Oct 18, 2016
RUNX1145Feb 20, 2020
RUNX2100Feb 20, 2020
RUSF125Feb 20, 2020
RYR11677Feb 20, 2020
RYR2648Feb 20, 2020
S100PBP25Feb 20, 2020
SACS284Feb 20, 2020
SAG98Feb 20, 2020
SALL111Oct 18, 2016
SALL41Oct 18, 2016
SAMHD197Feb 20, 2020
SARM1104Feb 20, 2020
SARS259Feb 20, 2020
SATB21Jul 16, 2020
SBDS1Oct 18, 2016
SBF2139Feb 20, 2020
SBF2-AS159Feb 20, 2020
SC5D128Feb 20, 2020
SCN1A270Feb 20, 2020
SCN1A-AS1738Jul 16, 2020
SCN1B82Feb 20, 2020
SCN2A164Feb 20, 2020
SCN3A2Jul 16, 2020
SCN3B8Oct 18, 2016
SCN4A1020Feb 20, 2020
SCN4B88Oct 18, 2016
SCN5A1418Feb 20, 2020
SCN8A10Jul 16, 2020
SCN9A839Jul 16, 2020
SCNN1A176Feb 20, 2020
SCNN1B189Feb 20, 2020
SCNN1G136Feb 20, 2020
SCO1125Feb 20, 2020
SCO2121Feb 20, 2020
SDCCAG8103Feb 20, 2020
SDHA215Feb 20, 2020
SDHAF116Feb 20, 2020
SDHAF230Feb 20, 2020
SDHB61Feb 20, 2020
SDHC93Feb 20, 2020
SDHD35Feb 20, 2020
SEC23B70Feb 20, 2020
SEC63179Feb 20, 2020
SELENON111Feb 20, 2020
SEMA4A156Feb 20, 2020
SEPSECS82Feb 20, 2020
SEPTIN9130Feb 20, 2020
SERPINA199Feb 20, 2020
SERPINC124Feb 20, 2020
SERPINE173Feb 20, 2020
SERPINF146Feb 20, 2020
SERPING141Feb 20, 2020
SERPINH163Feb 20, 2020
SERPINI138Feb 20, 2020
SETBP115Oct 18, 2016
SETX398Apr 1, 2020
SF3B41Oct 18, 2016
SFTA364Feb 20, 2020
SFTPB66Feb 20, 2020
SFTPC122Feb 20, 2020
SGCA43Feb 20, 2020
SGCB140Feb 20, 2020
SGCD364Feb 20, 2020
SGCE24Feb 20, 2020
SGCG87Feb 20, 2020
SGSH94Apr 1, 2020
SH2D1A31Feb 20, 2020
SH3BP2183Feb 20, 2020
SH3PXD2B200Feb 20, 2020
SH3TC21195Feb 20, 2020
SHANK251Oct 18, 2016
SHANK32Apr 1, 2020
SHLD27Feb 20, 2020
SHOC260Feb 20, 2020
SI154Feb 20, 2020
SIL148Feb 20, 2020
SIM172Feb 20, 2020
SIM1-AS16Feb 20, 2020
SIX1104Feb 20, 2020
SIX632Feb 20, 2020
SKIV2L91Feb 20, 2020
SLA12Feb 20, 2020
SLC11A287Feb 20, 2020
SLC12A196Feb 20, 2020
SLC12A3189Feb 20, 2020
SLC12A5-AS116Feb 20, 2020
SLC12A6174Feb 20, 2020
SLC16A179Feb 20, 2020
SLC17A5117Feb 20, 2020
SLC17A888Feb 20, 2020
SLC19A177Feb 20, 2020
SLC19A2106Feb 20, 2020
SLC19A3115Feb 20, 2020
SLC1A1116Feb 20, 2020
SLC1A386Feb 20, 2020
SLC20A284Feb 20, 2020
SLC22A1284Feb 20, 2020
SLC22A588Feb 20, 2020
SLC24A1107Feb 20, 2020
SLC25A123Oct 18, 2016
SLC25A13112Feb 20, 2020
SLC25A15101Feb 20, 2020
SLC25A1931Feb 20, 2020
SLC25A2037Feb 20, 2020
SLC25A214Feb 20, 2020
SLC25A22100Feb 20, 2020
SLC25A333Feb 20, 2020
SLC25A3888Feb 20, 2020
SLC25A477Feb 20, 2020
SLC26A122Feb 20, 2020
SLC26A112Feb 20, 2020
SLC26A2765Feb 20, 2020
SLC26A365Feb 20, 2020
SLC26A4250Feb 20, 2020
SLC26A4-AS120Feb 20, 2020
SLC26A51Oct 18, 2016
SLC29A367Feb 20, 2020
SLC2A1191Feb 20, 2020
SLC2A1-AS18Oct 18, 2016
SLC2A10119Feb 20, 2020
SLC2A274Feb 20, 2020
SLC2A965Feb 20, 2020
SLC2A9-AS15Feb 20, 2020
SLC30A1044Feb 20, 2020
SLC33A14Feb 1, 2019
SLC34A1180Feb 20, 2020
SLC35A121Feb 20, 2020
SLC35C176Feb 20, 2020
SLC37A448Feb 20, 2020
SLC39A483Feb 20, 2020
SLC3A187Feb 20, 2020
SLC40A154Feb 20, 2020
SLC45A262Feb 20, 2020
SLC46A1129Feb 20, 2020
SLC4A1391Feb 20, 2020
SLC4A1197Feb 20, 2020
SLC4A4143Feb 20, 2020
SLC5A1113Feb 20, 2020
SLC5A262Feb 20, 2020
SLC5A596Feb 20, 2020
SLC6A29Oct 18, 2016
SLC6A20160Feb 20, 2020
SLC6A4113Feb 20, 2020
SLC6A570Feb 20, 2020
SLC7A761Feb 20, 2020
SLC7A963Feb 20, 2020
SLCO1B184Feb 20, 2020
SLCO1B398Feb 20, 2020
SLCO1B3-SLCO1B791Feb 20, 2020
SLITRK1100Feb 20, 2020
SLURP116Feb 20, 2020
SLX4238Feb 20, 2020
SMAD3279Feb 20, 2020
SMAD4633Feb 20, 2020
SMAD929Oct 18, 2016
SMARCA2124Feb 20, 2020
SMARCA494Apr 1, 2020
SMARCAL158Feb 20, 2020
SMARCB175Feb 20, 2020
SMC1A95Feb 20, 2020
SMC367Feb 20, 2020
SMC46Oct 18, 2016
SMIM1917Feb 20, 2020
SMIM276Feb 20, 2020
SMIM3525Feb 20, 2020
SMN11Jul 16, 2020
SMPD171Feb 20, 2020
SMPX8Feb 20, 2020
SNAI232Feb 20, 2020
SNAP29147Feb 20, 2020
SNAPC58Oct 18, 2016
SNCA97Feb 20, 2020
SNCA-AS111Feb 20, 2020
SNCAIP72Feb 20, 2020
SNHG1427Oct 18, 2016
SNHG22190Feb 20, 2020
SNHG3160Feb 20, 2020
SNHG46Feb 20, 2020
SNORA661Oct 18, 2016
SNORD1181Jul 16, 2020
SNRNP200100Feb 20, 2020
SNRPN27Oct 18, 2016
SNTA193Feb 20, 2020
SNURF17Oct 18, 2016
SNX1716Feb 20, 2020
SNX2217Feb 20, 2020
SOD124Feb 20, 2020
SON1Apr 1, 2020
SOS1300Feb 20, 2020
SOST42Feb 20, 2020
SOX1080Feb 20, 2020
SOX151Feb 20, 2020
SOX41Apr 1, 2020
SOX912Jul 16, 2020
SP11066Feb 20, 2020
SP14026Feb 20, 2020
SP72Oct 18, 2016
SPAG87Feb 20, 2020
SPART85Feb 20, 2020
SPART-AS13Oct 18, 2016
SPAST107Feb 20, 2020
SPATA1652Feb 20, 2020
SPATA22124Feb 20, 2020
SPATA6L108Feb 20, 2020
SPATA7101Feb 20, 2020
SPG11161Apr 1, 2020
SPG2131Feb 20, 2020
SPG790Feb 20, 2020
SPINK124Feb 20, 2020
SPINK5103Feb 20, 2020
SPR32Feb 20, 2020
SPRED1135Feb 20, 2020
SPTA1814Feb 20, 2020
SPTAN13Oct 18, 2016
SPTB256Oct 18, 2016
SPTBN2124Feb 20, 2020
SPTBN42Apr 1, 2020
SPTLC145Feb 20, 2020
SPTLC2168Feb 20, 2020
SQSTM189Feb 20, 2020
SRCAP6Jul 16, 2020
SRD5A11Oct 18, 2016
SRD5A244Feb 20, 2020
SRD5A389Feb 20, 2020
SRD5A3-AS176Feb 20, 2020
SRP7271Feb 20, 2020
SSUH212Feb 20, 2020
ST3GAL557Feb 20, 2020
STAR61Feb 20, 2020
STAT193Feb 20, 2020
STAT376Feb 20, 2020
STAT5B1Apr 1, 2020
STIL82Feb 20, 2020
STK11121Feb 20, 2020
STON1-GTF2A1L158Feb 20, 2020
STRA681Feb 20, 2020
STX11132Feb 20, 2020
STX16126Feb 20, 2020
STX16-NPEPL1126Feb 20, 2020
STXBP12Jul 16, 2020
STXBP257Feb 20, 2020
SUCLA258Feb 20, 2020
SUCLG168Feb 20, 2020
SUFU93Feb 20, 2020
SUMF185Feb 20, 2020
SUMO115Feb 20, 2020
SUOX48Feb 20, 2020
SUPT3H6Feb 20, 2020
SURF130Feb 20, 2020
SYCE29Feb 20, 2020
SYCP317Feb 20, 2020
SYN3119Feb 20, 2020
SYNE11140Feb 20, 2020
SYNE1-AS12Feb 20, 2020
SYNE2512Feb 20, 2020
TACO120Feb 20, 2020
TACR340Feb 20, 2020
TACSTD246Feb 20, 2020
TAF11Jul 16, 2020
TAF1C5Feb 20, 2020
TALDO137Feb 20, 2020
TANC21Jul 16, 2020
TAOK11Jul 16, 2020
TARDBP120Feb 20, 2020
TARID135Feb 20, 2020
TAT56Feb 20, 2020
TAT-AS143Feb 20, 2020
TAX1BP320Feb 20, 2020
TAZ74Feb 20, 2020
TBC1D24191Feb 20, 2020
TBCE59Feb 20, 2020
TBCEL-TECTA303Feb 20, 2020
TBL1XR11Jul 16, 2020
TBX1973Feb 20, 2020
TBX2231Feb 20, 2020
TBX3117Feb 20, 2020
TBX467Feb 20, 2020
TBX5101Feb 20, 2020
TBX5-AS19Feb 20, 2020
TCAP38Feb 20, 2020
TCF4171Feb 20, 2020
TCF4-AS13Feb 20, 2020
TCFL52Oct 18, 2016
TCIRG1103Feb 20, 2020
TCN282Feb 20, 2020
TCOF14Oct 18, 2016
TCTN136Feb 20, 2020
TCTN2171Feb 20, 2020
TDP189Feb 20, 2020
TDRD772Feb 20, 2020
TECTA303Feb 20, 2020
TEK98Feb 20, 2020
TEN13Oct 18, 2016
TEN1-CDK33Oct 18, 2016
TERT214Feb 20, 2020
TF59Feb 20, 2020
TFAP2A1Jul 16, 2020
TFAP2B19Oct 18, 2016
TFPT4Oct 18, 2016
TFR284Feb 20, 2020
TG263Feb 20, 2020
TGFB2129Feb 20, 2020
TGFB2-AS17Feb 20, 2020
TGFB2-OT132Feb 20, 2020
TGFB39Oct 18, 2016
TGFBI81Feb 20, 2020
TGFBR1366Feb 20, 2020
TGFBR2294Feb 20, 2020
TGIF121Feb 20, 2020
TGM179Feb 20, 2020
TGM560Feb 20, 2020
TGM680Feb 20, 2020
TH106Feb 20, 2020
THAP146Feb 20, 2020
THBD80Feb 20, 2020
THCAT15851Feb 20, 2020
THPO33Feb 20, 2020
THRB179Feb 20, 2020
THRB-AS16Feb 20, 2020
TICRR1Oct 18, 2016
TIGD183Feb 20, 2020
TIMMDC11Apr 1, 2020
TIMP3119Feb 20, 2020
TINF280Feb 20, 2020
TIPIN2Oct 18, 2016
TJP26Oct 18, 2016
TK298Jul 16, 2020
TLDC238Feb 20, 2020
TLK21Apr 1, 2020
TM2D21Feb 20, 2020
TMC1118Feb 20, 2020
TMCO63Feb 20, 2020
TMEM1071Jul 16, 2020
TMEM120A3Feb 20, 2020
TMEM126A21Feb 20, 2020
TMEM127107Feb 20, 2020
TMEM13838Feb 20, 2020
TMEM16525Feb 20, 2020
TMEM2139Feb 20, 2020
TMEM21676Feb 20, 2020
TMEM237109Feb 20, 2020
TMEM4366Feb 20, 2020
TMEM67196Feb 20, 2020
TMEM7065Feb 20, 2020
TMIE39Feb 20, 2020
TMPO1Oct 18, 2016
TMPO-AS11Oct 18, 2016
TMPPE17Feb 20, 2020
TMPRSS393Feb 20, 2020
TMPRSS699Feb 20, 2020
TNFRSF11A202Feb 20, 2020
TNFRSF11B55Feb 20, 2020
TNFRSF13B23Oct 18, 2016
TNFRSF13C26Feb 20, 2020
TNFRSF1A61Feb 20, 2020
TNFRSF255Feb 20, 2020
TNFSF1160Feb 20, 2020
TNNC122Feb 20, 2020
TNNI230Feb 20, 2020
TNNI3237Feb 20, 2020
TNNT145Feb 20, 2020
TNNT2116Feb 20, 2020
TNNT356Feb 20, 2020
TOE15Feb 20, 2020
TOPORS77Feb 20, 2020
TOR1A49Feb 20, 2020
TP5378Feb 20, 2020
TP63306Feb 20, 2020
TPH242Feb 20, 2020
TPI141Feb 20, 2020
TPM166Feb 20, 2020
TPM256Feb 20, 2020
TPM3286Feb 20, 2020
TPMT6Oct 18, 2016
TPO112Feb 20, 2020
TPP181Feb 20, 2020
TRAPPC262Feb 20, 2020
TRAPPC2L10Feb 20, 2020
TRAPPC982Feb 20, 2020
TRB1Oct 18, 2016
TRDN6Oct 18, 2016
TREM223Feb 20, 2020
TREX166Feb 20, 2020
TRI-AAT4-111Feb 20, 2020
TRIM32133Feb 20, 2020
TRIM3788Feb 20, 2020
TRIM59-IFT8097Feb 20, 2020
TRIO1Apr 1, 2020
TRIP11177Feb 20, 2020
TRMT10B16Feb 20, 2020
TRMU73Feb 20, 2020
TRPC695Feb 20, 2020
TRPM1145Feb 20, 2020
TRPM4117Feb 20, 2020
TRPM6147Feb 20, 2020
TRPS121Oct 18, 2016
TRPV3210Feb 20, 2020
TRPV4637Feb 20, 2020
TRS-AGA2-69Feb 20, 2020
TRT-AGT1-27Feb 20, 2020
TSC1533Apr 1, 2020
TSC2242Feb 20, 2020
TSEN278Feb 20, 2020
TSEN3462Feb 20, 2020
TSEN5465Feb 20, 2020
TSFM45Feb 20, 2020
TSHB6Feb 20, 2020
TSHR185Feb 20, 2020
TSHZ117Oct 18, 2016
TSPAN162Feb 20, 2020
TSPAN1239Feb 20, 2020
TSPAN3126Feb 20, 2020
TTBK282Feb 20, 2020
TTC1462Feb 20, 2020
TTC1996Apr 1, 2020
TTC21B262Feb 20, 2020
TTC21B-AS112Feb 20, 2020
TTC883Feb 20, 2020
TTN9131Apr 1, 2020
TTN-AS15322Apr 1, 2020
TTPA59Feb 20, 2020
TTR29Jul 16, 2020
TUBB4A81Jul 16, 2020
TUBB612Feb 20, 2020
TUFM57Feb 20, 2020
TULP188Feb 20, 2020
TUSC3120Feb 20, 2020
TWNK304Feb 20, 2020
TYK2125Feb 20, 2020
TYMP114Feb 20, 2020
TYR40Jul 16, 2020
TYROBP19Feb 20, 2020
TYRP177Feb 20, 2020
UBA135Feb 20, 2020
UBE3B1Jul 16, 2020
UBIAD186Feb 20, 2020
UBQLN235Feb 20, 2020
UCHL133Feb 20, 2020
UCK12Feb 20, 2020
UGT1A128Feb 20, 2020
UGT1A1128Feb 20, 2020
UGT1A10128Feb 20, 2020
UGT1A3128Feb 20, 2020
UGT1A4128Feb 20, 2020
UGT1A5128Feb 20, 2020
UGT1A6128Feb 20, 2020
UGT1A7128Feb 20, 2020
UGT1A8128Feb 20, 2020
UGT1A9128Feb 20, 2020
UMOD52Feb 20, 2020
UMPS183Feb 20, 2020
UNC11938Feb 20, 2020
UNC13D135Feb 20, 2020
UNC802Jul 16, 2020
UNG58Feb 20, 2020
UNKL5Feb 20, 2020
UPB161Feb 20, 2020
UPK3A38Feb 20, 2020
UQCRQ48Feb 20, 2020
URB113Feb 20, 2020
UROD30Feb 20, 2020
UROS31Feb 20, 2020
USH1C83Feb 20, 2020
USH1G74Feb 20, 2020
USH2A289Feb 20, 2020
USH2A-AS157Feb 20, 2020
USH2A-AS21Oct 18, 2016
USP72Jul 16, 2020
USP9X1Jul 16, 2020
UTP14C27Feb 20, 2020
UTP438Feb 20, 2020
VANGL1435Feb 20, 2020
VAPB350Feb 20, 2020
VCAN609Feb 20, 2020
VCAN-AS1297Feb 20, 2020
VCL109Feb 20, 2020
VCP136Apr 1, 2020
VDR137Feb 20, 2020
VHL192Feb 20, 2020
VKORC126Feb 20, 2020
VLDLR155Feb 20, 2020
VLDLR-AS140Feb 20, 2020
VPS13A225Feb 20, 2020
VPS13A-AS19Feb 20, 2020
VPS13B290Feb 20, 2020
VPS13D2Apr 1, 2020
VPS33B59Feb 20, 2020
VPS3562Feb 20, 2020
VRK126Feb 20, 2020
VRK222Feb 20, 2020
VSX169Feb 20, 2020
VSX2163Feb 20, 2020
VWF138Feb 20, 2020
WASHC577Feb 20, 2020
WBP2NL38Feb 20, 2020
WDPCP72Feb 20, 2020
WDR19185Feb 20, 2020
WDR35342Feb 20, 2020
WDR3613Oct 18, 2016
WDR4142Feb 20, 2020
WDR62129Feb 20, 2020
WDR72204Feb 20, 2020
WFS1421Feb 20, 2020
WHRN257Feb 20, 2020
WNK1245Feb 20, 2020
WNK498Feb 20, 2020
WNT10A214Feb 20, 2020
WNT5A16Oct 18, 2016
WRAP5360Feb 20, 2020
WRN141Feb 20, 2020
WT1368Feb 20, 2020
XDH181Feb 20, 2020
XIAP113Feb 20, 2020
XPA32Feb 20, 2020
XPC147Feb 20, 2020
XPNPEP3165Feb 20, 2020
YARS163Feb 20, 2020
YARS2131Feb 20, 2020
YME1L13Oct 18, 2016
ZAP7053Feb 20, 2020
ZDHHC2456Feb 20, 2020
ZEB220Oct 18, 2016
ZFP5728Feb 20, 2020
ZFYVE26231Feb 20, 2020
ZFYVE2773Feb 20, 2020
ZIC368Feb 20, 2020
ZMPSTE24101Feb 20, 2020
ZNF27661Feb 20, 2020
ZNF412Oct 18, 2016
ZNF469252Feb 20, 2020
ZNF51373Feb 20, 2020
ZNF6742Oct 18, 2016
ZNF71149Feb 20, 2020
ZNF814Oct 18, 2016
ZRANB346Feb 20, 2020
ZSWIM78Oct 18, 2016

Condition

NameSubmissionsLast Updated
17-Beta-Hydroxysteroid Dehydrogenase III Deficiency1Oct 18, 2016
22q13.3 deletion syndrome2Apr 1, 2020
3 Methylcrotonyl-CoA carboxylase 1 deficiency39Feb 20, 2020
3 beta-Hydroxysteroid dehydrogenase deficiency33Feb 20, 2020
3-MCC Deficiency9Oct 18, 2016
3-Methylglutaconic aciduria type 126Feb 20, 2020
3-Methylglutaconic aciduria type 221Feb 20, 2020
3-Methylglutaconic aciduria type 3216Feb 20, 2020
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency44Feb 20, 2020
3-methylcrotonyl CoA carboxylase 2 deficiency75Feb 20, 2020
3-methylglutaconic aciduria type V3Oct 18, 2016
46,XY DSD/46,XY CGD1Oct 18, 2016
46,XY gonadal dysgenesis, complete, dhh-related29Feb 20, 2020
4p partial monosomy syndrome6Oct 18, 2016
ABCA1-Related Disorders3Feb 1, 2019
ABCA4-Related Disorders213Feb 20, 2020
ABCC9-Related Disorders2Feb 20, 2020
ACTA2-Related Disorders1Feb 1, 2019
ACTH resistance101Feb 20, 2020
ADAR-Related Disorders1Feb 1, 2019
ADCK3-Related Disorders2Feb 1, 2019
AGK-Related Disorders1Feb 1, 2019
AIPL1-Related Disorders3Feb 1, 2019
ALDH18A1 deficiency1Apr 1, 2020
ALG12-congenital disorder of glycosylation71Feb 20, 2020
ALG3-CDG37Feb 20, 2020
ALG8-CDG34Feb 20, 2020
ALG9 congenital disorder of glycosylation63Feb 20, 2020
ALS2-Related Disorders114Feb 20, 2020
ANKH-Related Disorders1Feb 1, 2019
ANO5-Related Disorders7Feb 1, 2019
ANO5-Related Muscle Diseases135Feb 20, 2020
APC-Associated Polyposis Disorders194Feb 20, 2020
APOB-Related Disorders4Feb 1, 2019
ASH1L-related neurodevelopmental disorders3Jul 16, 2020
ATP13A2-related disorders2Jul 16, 2020
ATP1A3-related neurologic disorders1Jul 16, 2020
Abetalipoproteinaemia100Feb 20, 2020
Achondrogenesis15Oct 18, 2016
Achondrogenesis, type IA171Feb 20, 2020
Achondrogenesis, type IB143Feb 20, 2020
Achromatopsia88Feb 20, 2020
Achromatopsia 286Feb 20, 2020
Achromatopsia 3103Feb 20, 2020
Achromatopsia 426Feb 20, 2020
Acid-labile subunit deficiency71Feb 20, 2020
Acquired porencephaly77Oct 18, 2016
Acrocallosal syndrome134Feb 20, 2020
Acrocephalosyndactyly type I6Oct 18, 2016
Acrodysostosis43Oct 18, 2016
Acrodysostosis 1 with or without hormone resistance65Feb 20, 2020
Acrodysostosis 2, with or without hormone resistance130Feb 20, 2020
Acroerythrokeratoderma16Feb 20, 2020
Acromesomelic Dysplasia2Oct 18, 2016
Acromesomelic dysplasia, Hunter-Thompson type39Feb 20, 2020
Acromesomelic dysplasia, Maroteaux type44Feb 20, 2020
Acromicric dysplasia237Feb 20, 2020
Acute Recurrent Myoglobinuria8Oct 18, 2016
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins73Feb 20, 2020
Acute intermittent porphyria44Feb 20, 2020
Acyl-CoA dehydrogenase family, member 9, deficiency of67Feb 20, 2020
Adams-Oliver syndrome5Oct 18, 2016
Adenine phosphoribosyltransferase deficiency31Feb 20, 2020
Adenylosuccinate lyase deficiency29Feb 20, 2020
Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete30Feb 20, 2020
Adrenocorticotropic hormone deficiency73Feb 20, 2020
Adrenoleukodystrophy71Feb 20, 2020
Adult i blood group with or without congenital cataract7Oct 18, 2016
Adult proximal spinal muscular atrophy, autosomal dominant154Feb 20, 2020
Afibrinogenemia, congenital138Feb 20, 2020
Age-related cortical cataract4Oct 18, 2016
Age-related macular degeneration 1389Feb 20, 2020
Age-related macular degeneration 1454Feb 20, 2020
Age-related macular degeneration 354Feb 20, 2020
Age-related macular degeneration 482Feb 20, 2020
Age-related macular degeneration 5151Feb 20, 2020
Age-related macular degeneration 667Feb 20, 2020
Age-related macular degeneration 821Feb 20, 2020
Age-related macular degeneration 9122Feb 20, 2020
Agenesis of the corpus callosum with peripheral neuropathy167Feb 20, 2020
Aicardi Goutieres syndrome23Oct 18, 2016
Aicardi Goutieres syndrome 119Feb 20, 2020
Aicardi Goutieres syndrome 239Feb 20, 2020
Aicardi Goutieres syndrome 365Feb 20, 2020
Aicardi Goutieres syndrome 435Feb 20, 2020
Aicardi Goutieres syndrome 549Feb 20, 2020
Aicardi-Goutieres syndrome 71Jul 16, 2020
Alexander Disease4Oct 18, 2016
Alkaptonuria58Feb 20, 2020
Alopecia universalis2Oct 18, 2016
Alopecia universalis congenita161Feb 20, 2020
Alpha-1-antitrypsin deficiency99Feb 20, 2020
Alpha-B crystallinopathy8Feb 20, 2020
Alpha-N-acetylgalactosaminidase deficiency type 161Feb 20, 2020
Alpha-N-acetylgalactosaminidase deficiency type 262Feb 20, 2020
Alpha-methylacyl-CoA racemase deficiency78Feb 20, 2020
Alport syndrome440Feb 20, 2020
Alstrom syndrome56Feb 20, 2020
Alternating hemiplegia of childhood11Oct 18, 2016
Alternating hemiplegia of childhood 1123Feb 20, 2020
Alternating hemiplegia of childhood 269Feb 20, 2020
Alzheimer disease72Feb 20, 2020
Alzheimer disease, type 3119Feb 20, 2020
Alzheimer disease, type 460Feb 20, 2020
Amelogenesis Imperfecta, Dominant9Oct 18, 2016
Amelogenesis Imperfecta, Recessive81Oct 18, 2016
Amelogenesis imperfecta97Feb 20, 2020
Amelogenesis imperfecta, hypomaturation type, IIA256Feb 20, 2020
Amelogenesis imperfecta, hypomaturation type, IIA3128Feb 20, 2020
Amelogenesis imperfecta, type IV64Feb 20, 2020
Amish lethal microcephaly31Feb 20, 2020
Amyloidogenic transthyretin amyloidosis29Jul 16, 2020
Amyloidosis10Oct 18, 2016
Amyotrophic Lateral Sclerosis, Dominant77Oct 18, 2016
Amyotrophic Lateral Sclerosis, Recessive12Oct 18, 2016
Amyotrophic Lateral Sclerosis/Frontotemporal Dementia20Oct 18, 2016
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia50Feb 20, 2020
Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia22Feb 20, 2020
Amyotrophic lateral sclerosis 2193Feb 20, 2020
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia136Jul 16, 2020
Amyotrophic lateral sclerosis and/or frontotemporal dementia 166Feb 20, 2020
Amyotrophic lateral sclerosis type 122Feb 20, 2020
Amyotrophic lateral sclerosis type 1065Feb 20, 2020
Amyotrophic lateral sclerosis type 1158Feb 20, 2020
Amyotrophic lateral sclerosis type 1261Feb 20, 2020
Amyotrophic lateral sclerosis type 2105Feb 20, 2020
Amyotrophic lateral sclerosis type 4192Feb 20, 2020
Amyotrophic lateral sclerosis type 8154Feb 20, 2020
Amyotrophic lateral sclerosis type 934Feb 20, 2020
Amyotrophy, hereditary neuralgic116Feb 20, 2020
Andersen Tawil syndrome122Feb 20, 2020
Anemia, hypochromic microcytic, with iron overload 187Feb 20, 2020
Anemia, sideroblastic, 149Feb 20, 2020
Anemia, sideroblastic, 2, pyridoxine-refractory54Feb 20, 2020
Angiokeratoma corporis diffusum with arteriovenous fistulas90Feb 20, 2020
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps171Feb 20, 2020
Aniridia 138Feb 20, 2020
Aniridia, Cerebellar Ataxia, And Intellectual Disability78Oct 18, 2016
Anophthalmia13Oct 18, 2016
Anophthalmia - microphthalmia5Oct 18, 2016
Anophthalmia-microphthalmia syndrome144Feb 20, 2020
Antenatal Bartter Syndrome10Oct 18, 2016
Anterior segment dysgenesis 19Oct 18, 2016
Anterior segment dysgenesis 456Feb 20, 2020
Antithrombin III deficiency24Feb 20, 2020
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis3Oct 18, 2016
Aortic aneurysm, familial thoracic 4202Feb 20, 2020
Aortic aneurysm, familial thoracic 617Feb 20, 2020
Aortic aneurysm, familial thoracic 7177Feb 20, 2020
Aplastic anemia90Feb 20, 2020
Apolipoprotein A-II deficiency9Feb 20, 2020
Apolipoprotein C2 deficiency23Feb 20, 2020
Arginase deficiency20Feb 20, 2020
Arginine:glycine amidinotransferase deficiency37Feb 20, 2020
Argininosuccinate lyase deficiency44Feb 20, 2020
Aromatase deficiency90Feb 20, 2020
Arrhythmogenic right ventricular cardiomyopathy190Oct 18, 2016
Arrhythmogenic right ventricular cardiomyopathy, type 10134Feb 20, 2020
Arrhythmogenic right ventricular cardiomyopathy, type 11102Feb 20, 2020
Arrhythmogenic right ventricular cardiomyopathy, type 12106Feb 20, 2020
Arrhythmogenic right ventricular dysplasia 8169Feb 20, 2020
Arrhythmogenic right ventricular dysplasia 9122Feb 20, 2020
Arrhythmogenic right ventricular dysplasia, familial, 2280Feb 20, 2020
Arterial calcification, generalized, of infancy, 1192Feb 20, 2020
Arterial tortuosity syndrome119Feb 20, 2020
Arteriohepatic dysplasia12Oct 18, 2016
Arthrogryposis multiplex congenita41Oct 18, 2016
Arthrogryposis multiplex congenita distal29Oct 18, 2016
Arthrogryposis with renal dysfunction and cholestasis syndrome1Oct 18, 2016
Arthrogryposis, renal dysfunction, and cholestasis 158Feb 20, 2020
Arts syndrome25Feb 20, 2020
Aspartylglucosaminuria60Feb 20, 2020
Asphyxiating thoracic dystrophy 286Feb 20, 2020
Asphyxiating thoracic dystrophy 4120Feb 20, 2020
Asphyxiating thoracic dystrophy 584Feb 20, 2020
Ataxia Neuropathy Spectrum Disorders6Oct 18, 2016
Ataxia with Oculomotor Apraxia21Oct 18, 2016
Ataxia-oculomotor apraxia type 144Feb 20, 2020
Ataxia-telangiectasia syndrome264Feb 20, 2020
Ataxia-telangiectasia-like disorder 1133Feb 20, 2020
Atelosteogenesis9Oct 18, 2016
Atelosteogenesis type II143Feb 20, 2020
Atransferrinemia59Feb 20, 2020
Atrial fibrillation, familial, 1127Feb 20, 2020
Atrial fibrillation, familial, 399Feb 20, 2020
Atrial fibrillation, familial, 417Feb 20, 2020
Atrial fibrillation, familial, 749Feb 20, 2020
Atrial fibrillation, familial, 9100Feb 20, 2020
Atrial septal defect54Oct 18, 2016
Atrichia with papular lesions163Feb 20, 2020
Atypical Gaucher Disease41Oct 18, 2016
Atypical hemolytic uremic syndrome32Oct 18, 2016
Atypical hemolytic-uremic syndrome 182Feb 20, 2020
Atypical hemolytic-uremic syndrome 260Feb 20, 2020
Atypical hemolytic-uremic syndrome 357Feb 20, 2020
Atypical hemolytic-uremic syndrome 451Feb 20, 2020
Atypical hemolytic-uremic syndrome 5121Feb 20, 2020
Atypical hemolytic-uremic syndrome 678Feb 20, 2020
Aural atresia, congenital17Oct 18, 2016
Auriculocondylar syndrome7Jul 16, 2020
Auriculocondylar syndrome 2101Feb 20, 2020
Autism spectrum disorder78Oct 18, 2016
Autism, susceptibility to, 181Jul 16, 2020
Autoimmune lymphoproliferative syndrome106Feb 20, 2020
Autoimmune lymphoproliferative syndrome type 2B57Feb 20, 2020
Autoimmune lymphoproliferative syndrome, type 2A113Feb 20, 2020
Autosomal dominant distal renal tubular acidosis122Feb 20, 2020
Autosomal dominant hypophosphatemic rickets55Feb 20, 2020
Autosomal dominant nonsyndromic deafness 17196Feb 20, 2020
Autosomal dominant nonsyndromic deafness 6199Feb 20, 2020
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 269Feb 20, 2020
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 370Feb 20, 2020
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 422Feb 20, 2020
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 580Feb 20, 2020
Autosomal dominant pseudohypoaldosteronism type 1295Feb 20, 2020
Autosomal dominant torsion dystonia 439Feb 20, 2020
Autosomal recessive centronuclear myopathy84Feb 20, 2020
Autosomal recessive cerebellar ataxia124Feb 20, 2020
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome2Apr 1, 2020
Autosomal recessive congenital ichthyosis 177Feb 20, 2020
Autosomal recessive congenital ichthyosis 1061Feb 20, 2020
Autosomal recessive congenital ichthyosis 267Feb 20, 2020
Autosomal recessive congenital ichthyosis 373Feb 20, 2020
Autosomal recessive congenital ichthyosis 563Feb 20, 2020
Autosomal recessive congenital ichthyosis 670Feb 20, 2020
Autosomal recessive cutis laxa type 1B37Feb 20, 2020
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome7Feb 20, 2020
Autosomal recessive hypophosphatemic vitamin D refractory rickets62Feb 20, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2D2Oct 18, 2016
Autosomal recessive limb-girdle muscular dystrophy type 2G19Feb 20, 2020
Autosomal recessive multiple pterygium syndrome102Feb 20, 2020
Autosomal recessive omodysplasia121Feb 20, 2020
Autosomal recessive osteopetrosis 192Feb 20, 2020
Autosomal recessive osteopetrosis 259Feb 20, 2020
Autosomal recessive osteopetrosis 783Feb 20, 2020
Autosomal recessive polycystic kidney disease369Feb 20, 2020
Autosomal recessive pseudohypoaldosteronism type 1215Feb 20, 2020
Axenfeld-Rieger Syndrome2Oct 18, 2016
Axenfeld-Rieger syndrome type 161Feb 20, 2020
B9D1-Related Disorders1Feb 1, 2019
BBS2-Related Disorders1Feb 1, 2019
BCS1L-Related Disorders4Feb 1, 2019
BEST1-Related Disorders1Feb 1, 2019
BH4-Deficient Hyperphenylalaninemia15Oct 18, 2016
BH4-deficient hyperphenylalaninemia A16Feb 20, 2020
BMP4-Related Syndromic Microphthalmia10Oct 18, 2016
BRCA2-Related Disorders6Feb 1, 2019
BRIP1-Related Disorders5Apr 5, 2019
Bardet-Biedl syndrome57Oct 18, 2016
Bardet-Biedl syndrome 172Feb 20, 2020
Bardet-Biedl syndrome 1072Feb 20, 2020
Bardet-Biedl syndrome 1164Feb 20, 2020
Bardet-Biedl syndrome 1261Feb 20, 2020
Bardet-Biedl syndrome 1358Feb 20, 2020
Bardet-Biedl syndrome 14130Feb 20, 2020
Bardet-Biedl syndrome 1563Feb 20, 2020
Bardet-Biedl syndrome 1646Feb 20, 2020
Bardet-Biedl syndrome 267Feb 20, 2020
Bardet-Biedl syndrome 322Feb 20, 2020
Bardet-Biedl syndrome 456Feb 20, 2020
Bardet-Biedl syndrome 656Feb 20, 2020
Bardet-Biedl syndrome 754Feb 20, 2020
Bardet-Biedl syndrome 842Feb 20, 2020
Bardet-Biedl syndrome 991Apr 1, 2020
Bare lymphocyte syndrome 2286Feb 20, 2020
Bartsocas-Papas syndrome117Feb 20, 2020
Bartter disease type 4a40Feb 20, 2020
Bartter syndrome1Oct 18, 2016
Bartter syndrome, type 1, antenatal96Feb 20, 2020
Bartter syndrome, type 2, antenatal39Feb 20, 2020
Basal laminar drusen83Feb 20, 2020
Beaded hair79Feb 20, 2020
Beare-Stevenson cutis gyrata syndrome99Feb 20, 2020
Behavior disorder113Feb 20, 2020
Benign Neonatal Epilepsy95Oct 18, 2016
Benign familial neonatal seizures108Oct 18, 2016
Benign familial neonatal seizures 2237Feb 20, 2020
Benign familial neonatal-infantile seizures141Feb 20, 2020
Benign hereditary chorea35Feb 20, 2020
Bernard Soulier syndrome29Feb 20, 2020
Beta-D-mannosidosis67Feb 20, 2020
Bietti crystalline corneoretinal dystrophy146Feb 20, 2020
Bifunctional peroxisomal enzyme deficiency61Feb 20, 2020
Biotin-responsive basal ganglia disease108Feb 20, 2020
Biotinidase deficiency27Feb 1, 2019
Birk-Barel Intellectual Disability Dysmorphism Syndrome1Oct 18, 2016
Birk-Barel syndrome1Apr 1, 2020
Blau syndrome132Jul 16, 2020
Bloom syndrome75Feb 20, 2020
Bohring-Opitz syndrome6Oct 18, 2016
Bone Mineral Density Variation2Oct 18, 2016
Bone marrow failure syndrome 171Feb 20, 2020
Bosley-Salih-Alorainy syndrome31Oct 18, 2016
Brachydactyly166Feb 20, 2020
Brachydactyly type B1117Feb 20, 2020
Brachyolmia2Oct 18, 2016
Brachyrachia (short spine dysplasia)104Feb 20, 2020
Brain small vessel disease 1 with or without ocular anomalies158Feb 20, 2020
Brain small vessel disease with hemorrhage68Oct 18, 2016
Branchiooculofacial syndrome1Jul 16, 2020
Branchiootic syndrome97Feb 20, 2020
Branchiootic syndrome 342Feb 20, 2020
Branchiootorenal Spectrum Disorders24Oct 18, 2016
Breast and Ovarian Cancer Susceptibility7Oct 18, 2016
Breast-ovarian cancer, familial 1132Feb 20, 2020
Breast-ovarian cancer, familial 2204Feb 20, 2020
Breast-ovarian cancer, familial 313Feb 20, 2020
Brittle cornea syndrome 1281Feb 20, 2020
Brittle cornea syndrome 213Feb 20, 2020
Brody myopathy68Feb 20, 2020
Bronchiectasis with or without elevated sweat chloride 163Feb 20, 2020
Bronchiectasis with or without elevated sweat chloride 276Feb 20, 2020
Brooke-Spiegler syndrome115Feb 20, 2020
Bruck syndrome 271Feb 20, 2020
Brugada syndrome89Oct 18, 2016
Brugada syndrome 1181Feb 20, 2020
Brugada syndrome 541Feb 20, 2020
Budd-Chiari syndrome206Feb 20, 2020
Bull's eye macular dystrophy108Feb 20, 2020
Bullous ichthyosiform erythroderma39Feb 20, 2020
C syndrome11Feb 1, 2019
C2-related disorders1Feb 1, 2019
C3 deficiency6Oct 18, 2016
C8orf37-Related Disorders2Apr 5, 2019
CACNA1A-related disorders2Apr 1, 2020
CACNB4-Related Disorders1Feb 1, 2019
CAMK2G-related syndromic intellectual disability1Apr 1, 2020
CC2D2A-Related Disorders37Feb 20, 2020
CDH23-Related Disorders99Feb 1, 2019
CEDNIK syndrome147Feb 20, 2020
CENPJ-Related Disorders1Feb 1, 2019
CEP152-Related Disorders7Feb 1, 2019
CEP290-Related Disorders5Feb 1, 2019
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II154Feb 20, 2020
CFH-Related Disorders1Feb 1, 2019
CFI-Related Disorders1Feb 20, 2020
CFTR-related disorders132Jul 16, 2020
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D67Feb 20, 2020
CHARGE association23Oct 18, 2016
CHEK2-Related Cancer Susceptibility40Feb 20, 2020
CHIME syndrome24Feb 20, 2020
CHRNG-Related Disorders5Feb 1, 2019
CIC-related neurodevelopmental disorders1Jul 16, 2020
CNGB3-Related Disorders2Feb 1, 2019
COFS syndrome37Oct 18, 2016
COG1 congenital disorder of glycosylation64Feb 20, 2020
COG7 congenital disorder of glycosylation57Feb 20, 2020
COL11A1-Related Disorders2Feb 1, 2019
COL11A2-Related Disorders1Feb 1, 2019
COL1A2-Related Disorders2Jul 16, 2020
COL2A1-related disorders2Apr 1, 2020
COL4A3-Related Disorders3Feb 1, 2019
COL9A1-Related Disorders1Feb 1, 2019
COL9A2-Related Disorders1Feb 1, 2019
COMP-related disorders3Feb 20, 2020
CRB1-Related Disorders7Feb 1, 2019
CSNK2B-related intellectual disability with or without epilepsy1Jul 16, 2020
CSRP3-Related Disorders1Feb 1, 2019
CTNNB1-related syndromic intellectual disability1Apr 1, 2020
CTSC-Related Disorders1Feb 1, 2019
CYFIP2-related neurodevelopmental disorders1Jul 16, 2020
CYP1B1-Related Disorders4Apr 5, 2019
CYP4V2-Related Disorders1Feb 1, 2019
Café-au-lait macules with pulmonary stenosis160Feb 20, 2020
Camptomelic dysplasia12Jul 16, 2020
Candidiasis, familial, 266Feb 20, 2020
Candidiasis, familial, 618Feb 20, 2020
Capillary malformation-arteriovenous malformation 170Feb 20, 2020
Carcinoma of pancreas11Oct 18, 2016
Cardiac arrhythmia, ankyrin B-related243Feb 20, 2020
Cardio-facio-cutaneous syndrome27Oct 18, 2016
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency28Feb 20, 2020
Cardiomyopathy, dilated, 1u119Feb 20, 2020
Carney complex19Oct 18, 2016
Carney complex, type 165Feb 20, 2020
Carney-Stratakis syndrome30Feb 20, 2020
Carnitine acylcarnitine translocase deficiency37Feb 20, 2020
Carnitine palmitoyltransferase II deficiency61Feb 20, 2020
Carpenter syndrome10Oct 18, 2016
Carpenter syndrome 156Feb 20, 2020
Cataract (disease)77Feb 20, 2020
Cataract 133Feb 20, 2020
Cataract 12, multiple types37Feb 20, 2020
Cataract 15, multiple types39Feb 20, 2020
Cataract 16, multiple types14Feb 20, 2020
Cataract 18195Feb 20, 2020
Cataract 19, multiple types35Feb 20, 2020
Cataract 424Feb 20, 2020
Cataract 5 multiple types53Feb 20, 2020
Cataract 6, multiple types105Feb 20, 2020
Cataract, autosomal dominant28Feb 20, 2020
Cataract, autosomal recessive congenital 471Feb 20, 2020
Cataract, autosomal recessive congenital 560Feb 20, 2020
Cataract, congenital nuclear, autosomal recessive 234Feb 20, 2020
Cataract, congenital nuclear, autosomal recessive 328Feb 20, 2020
Cataract-intellectual disability-hypogonadism syndrome139Feb 20, 2020
Catecholaminergic polymorphic ventricular tachycardia85Oct 18, 2016
Catecholaminergic polymorphic ventricular tachycardia type 1281Feb 20, 2020
Caudal dysgenesis syndrome26Oct 18, 2016
Caudal regression sequence177Feb 20, 2020
Caveolinopathy52Feb 20, 2020
Cenani-Lenz syndactyly syndrome162Feb 20, 2020
Central core myopathy419Feb 20, 2020
Centronuclear Myopathy, Dominant17Oct 18, 2016
Cerebellar ataxia16Oct 18, 2016
Cerebellar ataxia, Cayman type137Feb 20, 2020
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 194Feb 20, 2020
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1186Apr 1, 2020
Cerebral cavernous malformation93Feb 20, 2020
Cerebral cavernous malformations 316Feb 20, 2020
Cerebral folate deficiency17Feb 20, 2020
Cerebral palsy spastic quadriplegic2Oct 18, 2016
Cerebral palsy, spastic quadriplegic, 163Feb 20, 2020
Cerebrooculofacioskeletal syndrome 1152Feb 20, 2020
Cerebroretinal microangiopathy with calcifications and cysts 12Apr 5, 2019
Ceroid lipofuscinosis neuronal 268Feb 20, 2020
Char syndrome19Oct 18, 2016
Charcot-Marie-Tooth disease axonal type 2C104Feb 20, 2020
Charcot-Marie-Tooth disease axonal type 2F27Feb 20, 2020
Charcot-Marie-Tooth disease dominant intermediate d30Feb 20, 2020
Charcot-Marie-Tooth disease type 2B56Feb 20, 2020
Charcot-Marie-Tooth disease type 2B144Feb 20, 2020
Charcot-Marie-Tooth disease type 2P82Feb 20, 2020
Charcot-Marie-Tooth disease type 492Jul 16, 2020
Charcot-Marie-Tooth disease, axonal, type 2O179Feb 20, 2020
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive83Feb 20, 2020
Charcot-Marie-Tooth disease, demyelinating, type 1b30Feb 20, 2020
Charcot-Marie-Tooth disease, demyelinating, type 1d28Feb 20, 2020
Charcot-Marie-Tooth disease, demyelinating, type 1f43Feb 20, 2020
Charcot-Marie-Tooth disease, demyelinating, type 4F128Feb 20, 2020
Charcot-Marie-Tooth disease, dominant intermediate B92Feb 20, 2020
Charcot-Marie-Tooth disease, dominant intermediate C58Feb 20, 2020
Charcot-Marie-Tooth disease, recessive intermediate A83Feb 20, 2020
Charcot-Marie-Tooth disease, type 1C61Feb 20, 2020
Charcot-Marie-Tooth disease, type 2165Feb 20, 2020
Charcot-Marie-Tooth disease, type 2L34Feb 20, 2020
Charcot-Marie-Tooth disease, type 2N80Feb 20, 2020
Charcot-Marie-Tooth disease, type 4B169Feb 20, 2020
Charcot-Marie-Tooth disease, type 4B2137Feb 20, 2020
Charcot-Marie-Tooth disease, type 4C531Feb 20, 2020
Charcot-Marie-Tooth disease, type 4D89Feb 20, 2020
Charcot-Marie-Tooth disease, type 4H164Feb 20, 2020
Charcot-Marie-Tooth disease, type 4J58Feb 20, 2020
Charcot-Marie-Tooth disease, type I77Feb 20, 2020
Charcot-Marie-Tooth with Vocal Cord Paresis9Oct 18, 2016
Charcot-Marie-Tooth, Intermediate22Oct 18, 2016
Charcot-Marie-Tooth, X-linked2Oct 18, 2016
Charlevoix-Saguenay spastic ataxia261Feb 20, 2020
Chilblain lupus 248Feb 20, 2020
Chitotriosidase deficiency90Feb 20, 2020
Cholestanol storage disease59Feb 20, 2020
Cholestasis, intrahepatic, of pregnancy 363Feb 20, 2020
Cholestasis, progressive familial intrahepatic 1143Feb 20, 2020
Cholesterol monooxygenase (side-chain cleaving) deficiency57Feb 20, 2020
Chondrocalcinosis29Oct 18, 2016
Chondrodysplasia17Oct 18, 2016
Chondrodysplasia Blomstrand type46Feb 20, 2020
Chondrodysplasia with joint dislocations, GPAPP type158Feb 20, 2020
Choreoacanthocytosis225Feb 20, 2020
Choreoathetosis, hypothyroidism, and neonatal respiratory distress35Feb 20, 2020
Choroidal Dystrophy6Oct 18, 2016
Choroidal dystrophy, central areolar 276Feb 20, 2020
Chromosome 2q32-q33 deletion syndrome1Jul 16, 2020
Chronic granulomatous disease10Oct 18, 2016
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 243Feb 20, 2020
Chronic infantile neurological, cutaneous and articular syndrome91Feb 20, 2020
Chudley-McCullough syndrome59Feb 20, 2020
Chédiak-Higashi syndrome251Feb 20, 2020
Ciliary dyskinesia, primary, 1067Feb 20, 2020
Ciliary dyskinesia, primary, 1154Feb 20, 2020
Ciliary dyskinesia, primary, 1220Feb 20, 2020
Ciliary dyskinesia, primary, 1387Feb 20, 2020
Ciliary dyskinesia, primary, 14100Feb 20, 2020
Ciliary dyskinesia, primary, 15142Feb 20, 2020
Ciliary dyskinesia, primary, 1734Feb 20, 2020
Ciliary dyskinesia, primary, 1932Feb 20, 2020
Ciliary dyskinesia, primary, 21Feb 1, 2019
Ciliary dyskinesia, primary, 3420Feb 20, 2020
Ciliary dyskinesia, primary, 786Feb 20, 2020
Ciliary dyskinesia, primary, 977Feb 20, 2020
Citrin deficiency3Oct 18, 2016
Citrullinemia type I104Feb 20, 2020
Citrullinemia type II70Feb 20, 2020
Classic homocystinuria84Feb 20, 2020
Cleft Lip +/- Cleft Palate, Autosomal Dominant41Oct 18, 2016
Cleft lip/palate-ectodermal dysplasia syndrome142Feb 20, 2020
Cleft palate X-linked31Feb 20, 2020
Cleidocranial dysostosis100Feb 20, 2020
Cockayne syndrome43Oct 18, 2016
Cockayne syndrome B151Feb 20, 2020
Cockayne syndrome type A50Feb 20, 2020
Coenzyme Q10 deficiency, Oculomotor Apraxia Type14Oct 18, 2016
Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type31Oct 18, 2016
Coenzyme Q10 deficiency, primary14Feb 1, 2019
Coenzyme Q10 deficiency, primary, 234Feb 20, 2020
Coenzyme Q10 deficiency, primary, 482Feb 20, 2020
Coenzyme Q10 deficiency, primary, 538Feb 20, 2020
Coffin-Siris syndrome97Jul 16, 2020
Cohen syndrome290Feb 20, 2020
Collagen VI-related myopathy737Jul 16, 2020
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome14Oct 18, 2016
Colorectal cancer3Oct 18, 2016
Combined Pituitary Hormone Deficiency, Dominant6Oct 18, 2016
Combined Pituitary Hormone Deficiency, Dominant/Recessive7Oct 18, 2016
Combined Pituitary Hormone Deficiency, Recessive21Oct 18, 2016
Combined deficiency of factor V and factor VIII, 1102Feb 20, 2020
Combined deficiency of sialidase AND beta galactosidase47Feb 20, 2020
Combined immunodeficiency due to ZAP70 deficiency52Feb 20, 2020
Combined molybdoflavoprotein enzyme deficiency46Oct 18, 2016
Combined oxidative phosphorylation deficiency41Oct 18, 2016
Combined oxidative phosphorylation deficiency 170Feb 20, 2020
Combined oxidative phosphorylation deficiency 1279Feb 20, 2020
Combined oxidative phosphorylation deficiency 344Feb 20, 2020
Combined oxidative phosphorylation deficiency 452Feb 20, 2020
Combined oxidative phosphorylation deficiency 520Feb 20, 2020
Combined oxidative phosphorylation deficiency 627Feb 20, 2020
Combined oxidative phosphorylation deficiency 743Feb 20, 2020
Combined oxidative phosphorylation deficiency 8123Feb 20, 2020
Combined saposin deficiency106Feb 20, 2020
Common Variable Immune Deficiency, Dominant23Oct 18, 2016
Common Variable Immune Deficiency, Recessive5Oct 18, 2016
Common variable immunodeficiency 152Feb 20, 2020
Common variable immunodeficiency 340Feb 20, 2020
Common variable immunodeficiency 425Feb 20, 2020
Complement component 2 deficiency72Feb 20, 2020
Complement component 3 deficiency, autosomal recessive121Feb 20, 2020
Cone dystrophy 349Feb 20, 2020
Cone dystrophy 477Feb 20, 2020
Cone dystrophy with supernormal rod response89Feb 20, 2020
Cone-Rod Dystrophy, Dominant72Oct 18, 2016
Cone-Rod Dystrophy, Recessive155Oct 18, 2016
Cone-rod dystrophy114Feb 20, 2020
Cone-rod dystrophy 1059Feb 20, 2020
Cone-rod dystrophy 1167Feb 20, 2020
Cone-rod dystrophy 12108Feb 20, 2020
Cone-rod dystrophy 1382Feb 20, 2020
Cone-rod dystrophy 15127Feb 20, 2020
Cone-rod dystrophy 1656Feb 20, 2020
Cone-rod dystrophy 2129Feb 20, 2020
Cone-rod dystrophy 5154Feb 20, 2020
Cone-rod dystrophy 7133Feb 20, 2020
Cone-rod dystrophy 962Feb 20, 2020
Cone/cone-rod dystrophy22Oct 18, 2016
Congenital Adrenal Insufficiency1Oct 18, 2016
Congenital Bile Acid Synthesis Defect6Oct 18, 2016
Congenital Indifference to Pain24Oct 18, 2016
Congenital Muscular Dystrophy, CHKB-related1Oct 18, 2016
Congenital Muscular Dystrophy, ITGA7-related2Oct 18, 2016
Congenital Muscular Dystrophy, LAMA2-related9Oct 18, 2016
Congenital Muscular Dystrophy, alpha-dystroglycan related260Feb 20, 2020
Congenital Myasthenic Syndrome, Dominant/Recessive21Oct 18, 2016
Congenital Myasthenic Syndrome, Recessive39Oct 18, 2016
Congenital Stationary Night Blindness, Dominant8Oct 18, 2016
Congenital Stationary Night Blindness, Recessive56Oct 18, 2016
Congenital Stromal Corneal Dystrophy41Feb 20, 2020
Congenital absence of salivary gland12Feb 20, 2020
Congenital adrenal hyperplasia13Oct 18, 2016
Congenital amegakaryocytic thrombocytopenia77Feb 20, 2020
Congenital aniridia57Oct 18, 2016
Congenital bile acid synthesis defect 295Feb 20, 2020
Congenital brain dysgenesis due to glutamine synthetase deficiency133Feb 20, 2020
Congenital cataract24Oct 18, 2016
Congenital central hypoventilation60Feb 20, 2020
Congenital cerebellar hypoplasia61Oct 18, 2016
Congenital contractural arachnodactyly267Feb 20, 2020
Congenital defect of folate absorption129Feb 20, 2020
Congenital disorder of glycosylation348Feb 20, 2020
Congenital disorder of glycosylation type 1C61Feb 20, 2020
Congenital disorder of glycosylation type 1E20Feb 20, 2020
Congenital disorder of glycosylation type 1M42Feb 20, 2020
Congenital disorder of glycosylation type 1N120Feb 20, 2020
Congenital disorder of glycosylation type 1O2Feb 20, 2020
Congenital disorder of glycosylation type 1P42Feb 20, 2020
Congenital disorder of glycosylation type 1Q78Feb 20, 2020
Congenital disorder of glycosylation type 1t53Feb 20, 2020
Congenital disorder of glycosylation type 1u32Feb 20, 2020
Congenital disorder of glycosylation type 2H41Feb 20, 2020
Congenital disorder of glycosylation type 2L73Feb 20, 2020
Congenital disorder of glycosylation type 2i116Feb 20, 2020
Congenital disorder of glycosylation type 2k16Feb 20, 2020
Congenital disorder of glycosylation, type IIa56Feb 20, 2020
Congenital disorder of glycosylation, type Ia101Feb 20, 2020
Congenital dyserythropoietic anemia17Oct 18, 2016
Congenital dyserythropoietic anemia, type I142Feb 20, 2020
Congenital dyserythropoietic anemia, type II57Feb 20, 2020
Congenital dyserythropoietic anemia, type IV34Feb 20, 2020
Congenital erythropoietic porphyria31Feb 20, 2020
Congenital fiber-type disproportion30Oct 18, 2016
Congenital fibrosis of the extraocular muscles5Oct 18, 2016
Congenital generalized lipodystrophy (disease)6Oct 18, 2016
Congenital generalized lipodystrophy type 173Feb 20, 2020
Congenital generalized lipodystrophy type 237Feb 20, 2020
Congenital glucose-galactose malabsorption113Feb 20, 2020
Congenital heart defects 1, nonsyndromic, 114Oct 18, 2016
Congenital hyperammonemia, type I128Apr 1, 2020
Congenital hypomyelinating neuropathy 1, autosomal recessive28Oct 18, 2016
Congenital hypomyelinating neuropathy 230Feb 20, 2020
Congenital hypothyroidism20Oct 18, 2016
Congenital ichthyosiform erythroderma28Oct 18, 2016
Congenital ichthyosis of skin165Feb 20, 2020
Congenital lactase deficiency111Feb 20, 2020
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type160Feb 20, 2020
Congenital microvillous atrophy316Feb 20, 2020
Congenital muscular dystrophy due to partial LAMA2 deficiency263Feb 20, 2020
Congenital muscular dystrophy, LMNA-related53Feb 20, 2020
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A699Feb 20, 2020
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B699Feb 20, 2020
Congenital muscular hypertrophy-cerebral syndrome82Feb 20, 2020
Congenital myasthenic syndrome221Feb 20, 2020
Congenital myasthenic syndrome 12159Feb 20, 2020
Congenital myasthenic syndrome 4C62Feb 20, 2020
Congenital myasthenic syndrome, acetazolamide-responsive199Feb 20, 2020
Congenital myopathy with excess of thin filaments25Feb 20, 2020
Congenital myopathy with fiber type disproportion143Feb 20, 2020
Congenital nephrotic syndrome135Feb 20, 2020
Congenital nuclear cataract7Oct 18, 2016
Congenital plasminogen activator inhibitor type 1 deficiency73Feb 20, 2020
Congenital secretory diarrhea, chloride type65Feb 20, 2020
Congenital sensory neuropathy with selective loss of small myelinated fibers20Feb 20, 2020
Congenital stationary night blindness, X-linked2Oct 18, 2016
Congenital stationary night blindness, autosomal dominant 176Feb 20, 2020
Congenital stationary night blindness, autosomal dominant 2123Feb 20, 2020
Congenital stationary night blindness, autosomal dominant 350Feb 20, 2020
Congenital stationary night blindness, type 1A29Feb 20, 2020
Congenital stationary night blindness, type 1C141Feb 20, 2020
Congenital stationary night blindness, type 1D105Feb 20, 2020
Congenital stationary night blindness, type 1E175Feb 20, 2020
Congenital stationary night blindness, type 1F55Feb 20, 2020
Congenital stationary night blindness, type 2B101Feb 20, 2020
Corneal Dystrophy, Dominant2Oct 18, 2016
Corneal Dystrophy, Dominant/Recessive2Oct 18, 2016
Corneal Dystrophy, Recessive25Oct 18, 2016
Corneal dystrophy295Feb 20, 2020
Cornelia de Lange syndrome 196Feb 20, 2020
Cornelia de Lange syndrome 359Feb 20, 2020
Cornelia de Lange syndrome 41Jul 16, 2020
Cortical pulverulent cataract1Oct 18, 2016
Corticosterone methyloxidase type 1 deficiency92Feb 20, 2020
Corticosterone methyloxidase type 2 deficiency92Feb 20, 2020
Cowden syndrome 11Jul 16, 2020
Coxopodopatellar syndrome67Feb 20, 2020
Cranioectodermal dysplasia27Oct 18, 2016
Cranioectodermal dysplasia 190Feb 20, 2020
Cranioectodermal dysplasia 2158Feb 20, 2020
Cranioectodermal dysplasia 31Feb 1, 2019
Cranioectodermal dysplasia 484Feb 20, 2020
Craniofacial-deafness-hand syndrome41Feb 20, 2020
Craniometaphyseal dysplasia29Oct 18, 2016
Craniometaphyseal dysplasia, autosomal dominant193Feb 20, 2020
Craniosynostosis240Feb 20, 2020
Craniosynostosis 258Feb 20, 2020
Crigler-Najjar syndrome42Feb 20, 2020
Crohn disease5Oct 18, 2016
Crouzon syndrome99Feb 20, 2020
Curry-Hall syndrome12Oct 18, 2016
Cutaneous Malignant Melanoma, Dominant5Oct 18, 2016
Cutaneous malignant melanoma 335Feb 20, 2020
Cutaneous malignant melanoma 5154Feb 20, 2020
Cutis Laxa, Dominant/Recessive3Oct 18, 2016
Cutis laxa99Feb 20, 2020
Cutis laxa with osteodystrophy143Feb 20, 2020
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities82Feb 20, 2020
Cutis laxa, autosomal dominant23Oct 18, 2016
Cutis laxa, autosomal dominant 183Feb 20, 2020
Cutis laxa, autosomal recessive IIIA65Feb 20, 2020
Cutis laxa, recessive35Oct 18, 2016
Cylindromatosis, familial115Feb 20, 2020
Cystathioninuria54Feb 20, 2020
Cystic Fibrosis-Like Syndrome7Oct 18, 2016
Cystic fibrosis36Apr 5, 2019
Cystinosis13Oct 18, 2016
Cystinuria150Feb 20, 2020
D-2-hydroxyglutaric aciduria3Oct 18, 2016
D-2-hydroxyglutaric aciduria 1115Feb 20, 2020
DCTN1-Related Disorders1Feb 1, 2019
DFNB31-Related Disorders1Feb 1, 2019
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome157Feb 20, 2020
DLD-Related Disorders4Feb 1, 2019
DLL3-Related Disorders3Feb 1, 2019
DPAGT1-CDG31Feb 20, 2020
DSP-Related Disorders1Feb 1, 2019
DYNC1H1-related neurodevelopmental disorders4Jul 16, 2020
DYNC1H1-related neuronopathy1Apr 1, 2020
DYNC2H1-Related Disorders6Feb 1, 2019
DYSF-Related Disorders3Feb 20, 2020
Danon disease97Feb 20, 2020
De Lange syndrome32Jul 16, 2020
Deafness, X-linked 123Feb 20, 2020
Deafness, X-linked 211Feb 20, 2020
Deafness, X-linked 48Feb 20, 2020
Deafness, autosomal dominant 1111Feb 20, 2020
Deafness, autosomal dominant 1093Feb 20, 2020
Deafness, autosomal dominant 11252Apr 1, 2020
Deafness, autosomal dominant 12147Feb 20, 2020
Deafness, autosomal dominant 1523Apr 1, 2020
Deafness, autosomal dominant 22169Feb 20, 2020
Deafness, autosomal dominant 2342Feb 20, 2020
Deafness, autosomal dominant 2577Feb 20, 2020
Deafness, autosomal dominant 3655Feb 20, 2020
Deafness, autosomal dominant 3a67Feb 20, 2020
Deafness, autosomal dominant 4209Feb 20, 2020
Deafness, autosomal dominant 569Feb 20, 2020
Deafness, autosomal dominant 943Feb 20, 2020
Deafness, autosomal recessive 12371Feb 20, 2020
Deafness, autosomal recessive 1A71Feb 20, 2020
Deafness, autosomal recessive 2251Feb 20, 2020
Deafness, autosomal recessive 21146Feb 20, 2020
Deafness, autosomal recessive 2481Feb 20, 2020
Deafness, autosomal recessive 2524Feb 20, 2020
Deafness, autosomal recessive 2954Feb 20, 2020
Deafness, autosomal recessive 3298Feb 20, 2020
Deafness, autosomal recessive 30135Feb 20, 2020
Deafness, autosomal recessive 31126Feb 20, 2020
Deafness, autosomal recessive 3568Feb 20, 2020
Deafness, autosomal recessive 37169Feb 20, 2020
Deafness, autosomal recessive 4946Feb 20, 2020
Deafness, autosomal recessive 5936Feb 20, 2020
Deafness, autosomal recessive 636Feb 20, 2020
Deafness, autosomal recessive 6372Feb 20, 2020
Deafness, autosomal recessive 6768Feb 20, 2020
Deafness, autosomal recessive 757Feb 20, 2020
Deafness, autosomal recessive 77222Feb 20, 2020
Deafness, autosomal recessive 889Feb 20, 2020
Deafness, autosomal recessive 9212Feb 20, 2020
Deficiency of 2-methylbutyryl-CoA dehydrogenase147Feb 20, 2020
Deficiency of 3-hydroxyacyl-CoA dehydrogenase48Feb 20, 2020
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase32Feb 20, 2020
Deficiency of acetyl-CoA acetyltransferase66Feb 20, 2020
Deficiency of alpha-mannosidase109Feb 20, 2020
Deficiency of aromatic-L-amino-acid decarboxylase55Feb 20, 2020
Deficiency of beta-ureidopropionase61Feb 20, 2020
Deficiency of butyryl-CoA dehydrogenase59Feb 20, 2020
Deficiency of butyrylcholine esterase54Feb 20, 2020
Deficiency of ferroxidase107Feb 20, 2020
Deficiency of galactokinase41Feb 20, 2020
Deficiency of guanidinoacetate methyltransferase46Feb 20, 2020
Deficiency of hyaluronoglucosaminidase41Feb 20, 2020
Deficiency of hydroxymethylglutaryl-CoA lyase34Feb 20, 2020
Deficiency of iodide peroxidase109Feb 20, 2020
Deficiency of isobutyryl-CoA dehydrogenase61Feb 20, 2020
Deficiency of malonyl-CoA decarboxylase81Feb 20, 2020
Deficiency of phosphoserine phosphatase71Feb 20, 2020
Deficiency of pyrroline-5-carboxylate reductase107Feb 20, 2020
Deficiency of ribose-5-phosphate isomerase32Feb 20, 2020
Deficiency of steroid 11-beta-monooxygenase116Feb 20, 2020
Deficiency of steroid 17-alpha-monooxygenase26Feb 20, 2020
Deficiency of transaldolase37Feb 20, 2020
Deficiency of xanthine oxidase176Feb 20, 2020
Dementia, Deafness, and Sensory Neuropathy6Oct 18, 2016
Dent disease type 186Feb 20, 2020
Dent's disease22Oct 18, 2016
Dermatofibrosis lenticularis disseminata83Feb 20, 2020
Desbuquois dysplasia 1100Feb 20, 2020
Desbuquois syndrome2Oct 18, 2016
Desmosterolosis92Feb 20, 2020
Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension20Feb 20, 2020
Diabetes mellitus, neonatal, with congenital hypothyroidism247Feb 20, 2020
Diabetes mellitus, permanent neonatal, with cerebellar agenesis28Feb 20, 2020
Diamond-Blackfan anemia21Oct 18, 2016
Diamond-Blackfan anemia 124Feb 20, 2020
Diamond-Blackfan anemia 1019Feb 20, 2020
Diamond-Blackfan anemia 321Feb 20, 2020
Diamond-Blackfan anemia 510Feb 20, 2020
Diamond-Blackfan anemia 632Feb 20, 2020
Diamond-Blackfan anemia 712Feb 20, 2020
Diamond-Blackfan anemia 814Feb 20, 2020
Diamond-Blackfan anemia 918Feb 20, 2020
Diaphanospondylodysostosis113Feb 20, 2020
Diaphyseal medullary stenosis-bone malignancy syndrome122Feb 20, 2020
Diarrhea with Microvillus Atrophy18Oct 18, 2016
Diastrophic dysplasia152Feb 20, 2020
Dicarboxylic aminoaciduria116Feb 20, 2020
Digital clubbing, isolated congenital67Feb 20, 2020
Dihydropteridine reductase deficiency38Feb 20, 2020
Dihydropyrimidinase deficiency47Feb 20, 2020
Dihydropyrimidine dehydrogenase deficiency100Feb 20, 2020
Dilated Cardiomyopathy, Dominant405Oct 18, 2016
Dilated Cardiomyopathy, Recessive34Oct 18, 2016
Dilated cardiomyopathy 1A45Apr 1, 2020
Dilated cardiomyopathy 1AA87Feb 20, 2020
Dilated cardiomyopathy 1C25Feb 20, 2020
Dilated cardiomyopathy 1DD157Feb 20, 2020
Dilated cardiomyopathy 1E180Feb 20, 2020
Dilated cardiomyopathy 1G1777Apr 1, 2020
Dilated cardiomyopathy 1HH62Feb 20, 2020
Dilated cardiomyopathy 1I44Feb 20, 2020
Dilated cardiomyopathy 1J93Feb 20, 2020
Dilated cardiomyopathy 1O59Feb 20, 2020
Dilated cardiomyopathy 1P30Feb 20, 2020
Dilated cardiomyopathy 1R78Feb 20, 2020
Dilated cardiomyopathy 1S66Jul 16, 2020
Dilated cardiomyopathy 1V60Feb 20, 2020
Dilated cardiomyopathy 1W96Feb 20, 2020
Dilated cardiomyopathy 1X108Feb 20, 2020
Dilated cardiomyopathy 1Y29Feb 20, 2020
Dilated cardiomyopathy 1Z11Feb 20, 2020
Dilated cardiomyopathy 2A28Feb 20, 2020
Dilated cardiomyopathy 3B210Feb 20, 2020
Disease Association NOS1Oct 18, 2016
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency121Feb 20, 2020
Disorders of Intracellular Cobalamin Metabolism513Feb 20, 2020
Disseminated atypical mycobacterial infection57Feb 20, 2020
Distal Renal Tubular Acidosis, Dominant9Oct 18, 2016
Distal arthrogryposis4Oct 18, 2016
Distal arthrogryposis type 1A24Feb 20, 2020
Distal arthrogryposis type 1B68Feb 20, 2020
Distal arthrogryposis type 2B182Feb 20, 2020
Distal hereditary motor neuronopathy11Oct 18, 2016
Distal hereditary motor neuronopathy type 2A34Feb 20, 2020
Distal hereditary motor neuronopathy type 2B28Feb 20, 2020
Distal hereditary motor neuronopathy type 2C16Feb 20, 2020
Distal hereditary motor neuronopathy type 5104Feb 20, 2020
Distal hereditary motor neuronopathy type 7B82Feb 20, 2020
Distal myopathy6Oct 18, 2016
Distal spinal muscular atrophy81Feb 20, 2020
Distal spinal muscular atrophy, autosomal recessive 4126Feb 20, 2020
Distal spinal muscular atrophy, congenital nonprogressive106Feb 20, 2020
Dominant hereditary optic atrophy109Feb 20, 2020
Donnai-Barrow syndrome390Feb 20, 2020
Dopa-responsive dystonia due to sepiapterin reductase deficiency30Feb 20, 2020
Doyne honeycomb retinal dystrophy60Feb 20, 2020
Duane retraction syndrome 246Feb 20, 2020
Duane's syndrome5Oct 18, 2016
Dubin-Johnson syndrome133Feb 20, 2020
Dyggve-Melchior-Clausen syndrome41Feb 20, 2020
Dyskeratosis Congenita, Dominant4Oct 18, 2016
Dyskeratosis Congenita, Recessive27Oct 18, 2016
Dyskeratosis congenita216Feb 20, 2020
Dyskeratosis congenita autosomal recessive 121Feb 20, 2020
Dyskeratosis congenita, autosomal dominant, 270Feb 20, 2020
Dyskeratosis congenita, autosomal dominant, 336Feb 20, 2020
Dyskeratosis congenita, autosomal recessive, 343Feb 20, 2020
Dyssegmental Dysplasia6Oct 18, 2016
Dystonia33Oct 18, 2016
Dystonia 149Feb 20, 2020
Dystonia 1271Feb 20, 2020
Dystonia 1642Feb 20, 2020
Dystonia 568Feb 20, 2020
Dystonia 983Feb 20, 2020
Dystonia, dopa-responsive9Oct 18, 2016
Dystrophic epidermolysis bullosa251Feb 20, 2020
EAST syndrome93Feb 20, 2020
EDNRB-Related Disorders1Feb 1, 2019
EEM syndrome112Feb 20, 2020
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2117Feb 20, 2020
ENPP1-Related Disorders2Feb 1, 2019
ERCC2-Related Disorders4Feb 1, 2019
ERCC6-Related Disorders7Feb 1, 2019
EVC-Related Disorders3Feb 1, 2019
EYA4-Related Disorders1Feb 1, 2019
Early Infantile Epileptic Encephalopathy, Autosomal Dominant36Oct 18, 2016
Early Infantile Epileptic Encephalopathy, Autosomal Recessive42Oct 18, 2016
Early infantile epileptic encephalopathy 1058Feb 20, 2020
Early infantile epileptic encephalopathy 12104Feb 20, 2020
Early infantile epileptic encephalopathy 131Jul 16, 2020
Early infantile epileptic encephalopathy 41Jul 16, 2020
Early myoclonic encephalopathy92Feb 20, 2020
Early-onset autosomal dominant Alzheimer disease17Oct 18, 2016
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant2Feb 1, 2019
Ectodermal dysplasia and immunodeficiency 234Feb 20, 2020
Ectopia lentis48Oct 18, 2016
Ectopia lentis 2, isolated, autosomal recessive127Feb 20, 2020
Ectopia lentis, isolated, autosomal dominant194Feb 20, 2020
Ectrodactyly10Oct 18, 2016
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 392Feb 20, 2020
Ehlers-Danlos syndrome classic type 294Feb 20, 2020
Ehlers-Danlos syndrome dermatosparaxis type196Feb 20, 2020
Ehlers-Danlos syndrome, classic type111Feb 20, 2020
Ehlers-Danlos syndrome, hydroxylysine-deficient87Feb 20, 2020
Ehlers-Danlos syndrome, procollagen proteinase deficient138Jul 16, 2020
Ehlers-Danlos syndrome, type 4116Feb 20, 2020
Ehlers-Danlos syndrome, type 7A302Oct 18, 2016
Elliptocytosis155Oct 18, 2016
Elliptocytosis 2244Feb 20, 2020
Ellis-van Creveld syndrome402Feb 20, 2020
Emery-Dreifuss muscular dystrophy79Feb 20, 2020
Emery-Dreifuss muscular dystrophy 2, autosomal dominant44Feb 20, 2020
Emery-Dreifuss muscular dystrophy 4, autosomal dominant550Feb 20, 2020
Emery-Dreifuss muscular dystrophy 5, autosomal dominant502Feb 20, 2020
Encephalopathy, familial, with neuroserpin inclusion bodies35Feb 20, 2020
Endocardial fibroelastosis21Feb 20, 2020
Endplate acetylcholinesterase deficiency68Feb 20, 2020
Enhanced s-cone syndrome60Feb 20, 2020
Enlarged parietal foramina8Oct 18, 2016
Enlarged vestibular aqueduct256Feb 20, 2020
Epidermolysis bullosa junctionalis with pyloric atresia310Feb 20, 2020
Epidermolysis bullosa simplex69Feb 20, 2020
Epidermolysis bullosa simplex due to plakophilin deficiency170Feb 20, 2020
Epidermolytic palmoplantar keratoderma73Feb 20, 2020
Epilepsy62Oct 18, 2016
Epilepsy, childhood absence 273Feb 20, 2020
Epilepsy, familial temporal lobe, 549Feb 20, 2020
Epilepsy, focal, with speech disorder and with or without mental retardation289Apr 1, 2020
Epilepsy, juvenile myoclonic 598Feb 20, 2020
Epilepsy, nocturnal frontal lobe, type 498Feb 20, 2020
Epilepsy, progressive myoclonic 398Feb 20, 2020
Epilepsy, progressive myoclonic 64Feb 20, 2020
Epileptic encephalopathy4Oct 18, 2016
Epileptic encephalopathy, early infantile, 422Jul 16, 2020
Epiphyseal dysplasia, multiple, 291Feb 20, 2020
Epiphyseal dysplasia, multiple, 31Feb 1, 2019
Episodic ataxia96Oct 18, 2016
Episodic ataxia type 1152Feb 20, 2020
Episodic ataxia, type 5128Feb 20, 2020
Episodic ataxia, type 678Feb 20, 2020
Erythrocyte AMP deaminase deficiency111Feb 20, 2020
Erythrocytosis, familial, 3138Feb 20, 2020
Erythrocytosis, familial, 4130Feb 20, 2020
Erythrokeratodermia variabilis et progressiva 171Feb 20, 2020
Ethylmalonic encephalopathy31Feb 20, 2020
Exercise-induced hyperinsulinism67Feb 20, 2020
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis1Oct 18, 2016
Exudative vitreoretinopathy 1115Feb 20, 2020
Exudative vitreoretinopathy 534Feb 20, 2020
F12-Related Disorders1Oct 18, 2016
F2-Related Disorders2Feb 1, 2019
FBN1-Related Disorders2Jul 16, 2020
FBXW11-related neurodevelopmental, brain, eye, and digit anomalies1Apr 1, 2020
FGA-Related Disorders3Feb 1, 2019
FH-Related Disorders1Feb 1, 2019
FIG4-Related Disorders2Feb 1, 2019
FKTN-Related Disorders1Feb 1, 2019
FLNA-related otopalatodigital spectrum disorders1Jul 16, 2020
FLNB-Related Spectrum Disorders258Feb 20, 2020
FRASER SYNDROME 2343Feb 20, 2020
FRASER SYNDROME 382Feb 20, 2020
FSHR-Related Disorders1Feb 1, 2019
Fabry disease14Feb 20, 2020
Factor V deficiency202Feb 20, 2020
Factor VII Marburg I Variant Thrombophilia103Feb 20, 2020
Factor VII deficiency91Feb 20, 2020
Factor X deficiency47Feb 20, 2020
Factor XII deficiency disease50Feb 20, 2020
Factor XIII subunit A deficiency73Feb 20, 2020
Factor XIII, b subunit, deficiency of44Feb 20, 2020
Factor v and factor viii, combined deficiency of, 2104Feb 20, 2020
Familial Atypical Mycobacteriosis, Autosomal Dominant1Oct 18, 2016
Familial Atypical Mycobacteriosis, Autosomal Recessive6Oct 18, 2016
Familial Candidiasis, Recessive92Oct 18, 2016
Familial High Density Lipoprotein Deficiency19Oct 18, 2016
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome75Feb 20, 2020
Familial Isolated Pituitary Adenomas1Oct 18, 2016
Familial Mediterranean fever117Feb 20, 2020
Familial Periodic Fever7Oct 18, 2016
Familial X-linked hypophosphatemic vitamin D refractory rickets44Feb 20, 2020
Familial amyloid nephropathy with urticaria AND deafness91Feb 20, 2020
Familial atrial fibrillation68Oct 18, 2016
Familial benign pemphigus70Feb 20, 2020
Familial calcium pyrophosphate deposition193Feb 20, 2020
Familial cancer of breast56Feb 20, 2020
Familial cold autoinflammatory syndrome23Oct 18, 2016
Familial cold autoinflammatory syndrome 2106Feb 20, 2020
Familial cold urticaria87Feb 20, 2020
Familial dysautonomia155Feb 20, 2020
Familial erythrocytosis40Oct 18, 2016
Familial exudative vitreoretinopathy20Oct 18, 2016
Familial febrile seizures14Oct 18, 2016
Familial hemiplegic migraine17Oct 18, 2016
Familial hemiplegic migraine type 2123Feb 20, 2020
Familial hemiplegic migraine type 3100Feb 20, 2020
Familial hemophagocytic lymphohistiocytosis33Oct 18, 2016
Familial hemophagocytic lymphohistiocytosis 272Feb 20, 2020
Familial hemophagocytic lymphohistiocytosis 3133Feb 20, 2020
Familial hemophagocytic lymphohistiocytosis 4111Feb 20, 2020
Familial hyperaldosteronism45Oct 18, 2016
Familial hyperaldosteronism type 374Feb 20, 2020
Familial hypercholesterolemia 1260Feb 20, 2020
Familial hypercholesterolemia 2288Feb 20, 2020
Familial hypercholesterolemia 3108Feb 20, 2020
Familial hypercholesterolemia 484Feb 20, 2020
Familial hyperinsulinism114Feb 20, 2020
Familial hypertrophic cardiomyopathy 1126Feb 20, 2020
Familial hypertrophic cardiomyopathy 1023Feb 20, 2020
Familial hypertrophic cardiomyopathy 1178Feb 20, 2020
Familial hypertrophic cardiomyopathy 1231Feb 20, 2020
Familial hypertrophic cardiomyopathy 1311Feb 20, 2020
Familial hypertrophic cardiomyopathy 223Feb 20, 2020
Familial hypertrophic cardiomyopathy 329Feb 20, 2020
Familial hypertrophic cardiomyopathy 4105Feb 20, 2020
Familial hypertrophic cardiomyopathy 679Feb 20, 2020
Familial hypertrophic cardiomyopathy 729Apr 1, 2020
Familial hypertrophic cardiomyopathy 816Feb 20, 2020
Familial hypoalphalipoproteinemia255Feb 20, 2020
Familial hypobetalipoproteinemia61Oct 18, 2016
Familial hypocalciuric hypercalcemia3Oct 18, 2016
Familial hypokalemia-hypomagnesemia189Feb 20, 2020
Familial hypoplastic, glomerulocystic kidney57Feb 20, 2020
Familial isolated deficiency of vitamin E59Feb 20, 2020
Familial isolated hypoparathyroidism127Feb 20, 2020
Familial multiple trichoepitheliomata109Feb 20, 2020
Familial partial lipodystrophy9Oct 18, 2016
Familial partial lipodystrophy 244Feb 20, 2020
Familial partial lipodystrophy 320Feb 20, 2020
Familial platelet disorder with associated myeloid malignancy145Feb 20, 2020
Familial porphyria cutanea tarda24Feb 20, 2020
Familial renal glucosuria62Feb 20, 2020
Familial renal hypouricemia85Feb 20, 2020
Familial restrictive cardiomyopathy112Feb 20, 2020
Familial restrictive cardiomyopathy 128Feb 20, 2020
Familial restrictive cardiomyopathy 323Feb 20, 2020
Familial temporal lobe epilepsy 124Feb 20, 2020
Familial temporal lobe epilepsy 26Oct 18, 2016
Familial thoracic aortic aneurysm and aortic dissection667Feb 20, 2020
Familial visceral amyloidosis, Ostertag type97Feb 20, 2020
Fanconi Anemia, X-Linked3Oct 18, 2016
Fanconi anemia106Oct 18, 2016
Fanconi anemia, complementation group A193Feb 20, 2020
Fanconi anemia, complementation group B42Feb 20, 2020
Fanconi anemia, complementation group C112Feb 20, 2020
Fanconi anemia, complementation group D1200Feb 20, 2020
Fanconi anemia, complementation group D2118Feb 20, 2020
Fanconi anemia, complementation group E61Feb 20, 2020
Fanconi anemia, complementation group F72Feb 20, 2020
Fanconi anemia, complementation group G50Feb 20, 2020
Fanconi anemia, complementation group I135Feb 20, 2020
Fanconi anemia, complementation group J135Feb 20, 2020
Fanconi anemia, complementation group L44Feb 20, 2020
Fanconi anemia, complementation group N69Feb 20, 2020
Fanconi anemia, complementation group O13Feb 20, 2020
Fanconi anemia, complementation group P233Feb 20, 2020
Fanconi-Bickel syndrome74Feb 20, 2020
Farber disease93Feb 20, 2020
Fatal Infantile Cardioencephalomyopathy25Oct 18, 2016
Fatal infantile hypertonic myofibrillar myopathy14Feb 20, 2020
Fatty liver disease, nonalcoholic 182Feb 20, 2020
Fetal hemoglobin quantitative trait locus 131Feb 20, 2020
Fibrochondrogenesis 1178Feb 20, 2020
Fibrochondrogenesis 2141Feb 20, 2020
Fibrosis of extraocular muscles, congenital, 1113Jul 16, 2020
Fibrous dysplasia of jaw183Feb 20, 2020
Fibular hypoplasia and complex brachydactyly40Feb 20, 2020
Finnish congenital nephrotic syndrome13Feb 1, 2019
Fleck corneal dystrophy168Feb 20, 2020
Floating-Harbor syndrome6Jul 16, 2020
Focal cortical dysplasia type II266Feb 20, 2020
Focal segmental glomerulosclerosis40Oct 18, 2016
Focal segmental glomerulosclerosis 290Feb 20, 2020
Focal segmental glomerulosclerosis 3, susceptibility to98Feb 20, 2020
Focal segmental glomerulosclerosis 5125Feb 20, 2020
Foveal hypoplasia and presenile cataract syndrome125Feb 20, 2020
Frank-Ter Haar syndrome200Feb 20, 2020
Fraser syndrome 1487Feb 20, 2020
Freeman-Sheldon syndrome162Feb 20, 2020
Frontotemporal Dementia, Chromosome 3-Linked46Feb 20, 2020
Frontotemporal dementia36Oct 18, 2016
Fructose-biphosphatase deficiency52Feb 20, 2020
Fructosuria, essential78Feb 20, 2020
Fucosidosis38Feb 20, 2020
Fukuyama congenital muscular dystrophy116Feb 20, 2020
Fumarase deficiency53Feb 20, 2020
Fundus dystrophy, pseudoinflammatory, recessive form14Oct 18, 2016
GARS-Associated Axonal Neuropathy1Jul 16, 2020
GARS1-related neuropathies1Jul 16, 2020
GATAD2B-related intellectual disability syndrome1Apr 1, 2020
GBE1-Related Disorders6Feb 1, 2019
GDAP1-Related Disorders1Feb 1, 2019
GJB2-Related Disorders2Feb 1, 2019
GJB6-related disorders1Feb 1, 2019
GLE1-Related Disorders2Feb 1, 2019
GLI3-Related Disorders2Feb 1, 2019
GLUT1 deficiency syndrome13Oct 18, 2016
GLUT1 deficiency syndrome 182Feb 20, 2020
GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY23Feb 1, 2019
GM1 gangliosidosis60Feb 20, 2020
GNE myopathy106Feb 20, 2020
GNPTAB-Related Disorders3Apr 5, 2019
GPSM2-Related Disorders3Feb 1, 2019
GRACILE syndrome22Feb 20, 2020
GRIA2-related neurodevelopmental disorder1Jul 16, 2020
GRIA4-related neurodevelopmental disorder1Apr 1, 2020
GTP cyclohydrolase I deficiency74Feb 20, 2020
Galactosemia1Oct 18, 2016
Galactosylceramide beta-galactosidase deficiency145Apr 1, 2020
Gallbladder disease 13Feb 1, 2019
Gamma-aminobutyric acid transaminase deficiency153Feb 20, 2020
Gastrointestinal stromal tumor224Feb 20, 2020
Gaucher disease1Oct 18, 2016
Gaucher disease, atypical, due to saposin C deficiency68Feb 20, 2020
Gaze palsy, familial horizontal, with progressive scoliosis 1114Feb 20, 2020
Geleophysic dysplasia194Feb 20, 2020
Geleophysic dysplasia 1128Feb 20, 2020
Generalized epilepsy with febrile seizures plus17Oct 18, 2016
Generalized epilepsy with febrile seizures plus, type 141Feb 20, 2020
Generalized epilepsy with febrile seizures plus, type 299Feb 20, 2020
Generalized epilepsy with febrile seizures plus, type 72Feb 1, 2019
Genetic prion diseases54Feb 20, 2020
Geroderma osteodysplastica53Feb 20, 2020
Giant axonal neuropathy 1124Apr 1, 2020
Gilbert's syndrome43Feb 20, 2020
Gingival fibromatosis18Oct 18, 2016
Gingival fibromatosis 1132Feb 20, 2020
Glanzmann thrombasthenia173Feb 20, 2020
Glaucoma47Feb 20, 2020
Glaucoma 1, open angle, A47Feb 20, 2020
Glaucoma 3, primary congenital, A112Feb 20, 2020
Glaucoma 3, primary congenital, d200Feb 20, 2020
Globozoospermia49Feb 20, 2020
Glomuvenous malformations42Feb 20, 2020
Glucocorticoid Deficiency26Oct 18, 2016
Glucocorticoid deficiency 225Feb 20, 2020
Glucocorticoid deficiency with achalasia51Feb 20, 2020
Glucocorticoid resistance, generalized127Feb 20, 2020
Glucose 6 phosphate dehydrogenase deficiency44Feb 20, 2020
Glutaric acidemia4Oct 18, 2016
Glutaric aciduria, type 143Feb 20, 2020
Gluthathione synthetase deficiency38Feb 20, 2020
Glycogen phosphorylase kinase deficiency30Oct 18, 2016
Glycogen storage disease 0, muscle91Feb 20, 2020
Glycogen storage disease IXb109Feb 20, 2020
Glycogen storage disease IXc34Feb 20, 2020
Glycogen storage disease IXd53Feb 20, 2020
Glycogen storage disease XI51Feb 20, 2020
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA94Feb 20, 2020
Glycogen storage disease due to hepatic glycogen synthase deficiency79Feb 20, 2020
Glycogen storage disease due to muscle beta-enolase deficiency31Feb 20, 2020
Glycogen storage disease of heart, lethal congenital23Oct 18, 2016
Glycogen storage disease type III129Feb 20, 2020
Glycogen storage disease type IXa11Jul 16, 2020
Glycogen storage disease type X26Feb 20, 2020
Glycogen storage disease, type I53Feb 20, 2020
Glycogen storage disease, type II151Feb 20, 2020
Glycogen storage disease, type IV68Feb 20, 2020
Glycogen storage disease, type V87Feb 20, 2020
Glycogen storage disease, type VI58Feb 20, 2020
Glycogen storage disease, type VII49Feb 20, 2020
Goldberg-Shprintzen megacolon syndrome42Feb 20, 2020
Gonadotropin-independent familial sexual precocity62Feb 20, 2020
Gorlin syndrome192Jul 16, 2020
Gray platelet syndrome203Feb 20, 2020
Grebe syndrome39Feb 20, 2020
Greenberg dysplasia90Feb 20, 2020
Greig cephalopolysyndactyly syndrome205Feb 20, 2020
Griscelli syndrome7Oct 18, 2016
Griscelli syndrome type 290Feb 20, 2020
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions53Feb 20, 2020
Growth delay due to insulin-like growth factor I resistance414Feb 20, 2020
Growth delay due to insulin-like growth factor type 1 deficiency140Feb 20, 2020
Growth hormone deficiency44Feb 20, 2020
Growth retardation, developmental delay, coarse facies, and early death112Feb 20, 2020
HADHA-Related Disorders3Feb 1, 2019
HBB-Related Disorders2Feb 1, 2019
HBD-Related Disorders1Feb 20, 2020
HNSHA due to aldolase A deficiency22Oct 18, 2016
HPGD-Related Disorders1Feb 1, 2019
HR-Related Disorders1Feb 1, 2019
HSD17B4-Related Disorders1Feb 1, 2019
HSPB1-Related Disorders1Feb 1, 2019
HSPG2-Related Disorders2Feb 1, 2019
HTRA1-related cerebral small vessel disease1Feb 1, 2019
Haim-Munk syndrome46Feb 20, 2020
Hawkinsinuria32Feb 20, 2020
Hb SS disease16Feb 20, 2020
Hecht syndrome114Feb 20, 2020
Helsmoortel-Van der Aa Syndrome2Apr 1, 2020
Hemochromatosis type 145Feb 20, 2020
Hemochromatosis type 2A46Feb 20, 2020
Hemochromatosis type 2B8Feb 20, 2020
Hemochromatosis type 383Feb 20, 2020
Hemochromatosis type 447Feb 20, 2020
Hemochromatosis type 518Feb 20, 2020
Hemoglobin E17Feb 20, 2020
Hemoglobin E disease1Feb 1, 2019
Hemolytic anemia130Feb 20, 2020
Hemophagocytic lymphohistiocytosis, familial, 548Feb 20, 2020
Hemophilia A, FVIII Deficiency1Oct 18, 2016
Hemophilia B, Factor IX Deficiency5Oct 18, 2016
Hennekam lymphangiectasia-lymphedema syndrome 1216Feb 20, 2020
Hepatic lipase deficiency55Feb 20, 2020
Hepatic methionine adenosyltransferase deficiency96Feb 20, 2020
Hepatic veno-occlusive disease-immunodeficiency syndrome66Feb 20, 2020
Hereditary Essential Tremor10Oct 18, 2016
Hereditary Multiple Osteochondromatosis6Oct 18, 2016
Hereditary Neuralgic Amyotrophy (HNA)14Oct 18, 2016
Hereditary Paraganglioma-Pheochromocytoma Syndromes195Feb 20, 2020
Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis37Oct 18, 2016
Hereditary acrodermatitis enteropathica83Feb 20, 2020
Hereditary angioedema type 140Feb 20, 2020
Hereditary angioedema type 339Feb 20, 2020
Hereditary angioneurotic edema16Oct 18, 2016
Hereditary breast and ovarian cancer syndrome34Oct 18, 2016
Hereditary cancer-predisposing syndrome35Oct 18, 2016
Hereditary coproporphyria80Feb 20, 2020
Hereditary diffuse gastric cancer110Feb 20, 2020
Hereditary diffuse leukoencephalopathy with spheroids130Jul 16, 2020
Hereditary essential tremor 113Feb 20, 2020
Hereditary factor II deficiency disease1Oct 18, 2016
Hereditary factor IX deficiency disease29Feb 20, 2020
Hereditary factor VIII deficiency disease65Jul 16, 2020
Hereditary factor XI deficiency disease85Feb 20, 2020
Hereditary fructosuria64Feb 20, 2020
Hereditary hemochromatosis9Oct 18, 2016
Hereditary hemorrhagic telangiectasia type 1148Feb 20, 2020
Hereditary hyperferritinemia with congenital cataracts39Feb 20, 2020
Hereditary insensitivity to pain with anhidrosis78Feb 20, 2020
Hereditary leiomyomatosis and renal cell cancer53Feb 20, 2020
Hereditary liability to pressure palsies42Feb 20, 2020
Hereditary motor and sensory neuropathy13Oct 18, 2016
Hereditary motor and sensory neuropathy with optic atrophy98Feb 20, 2020
Hereditary nonpolyposis colorectal cancer type 476Feb 20, 2020
Hereditary nonpolyposis colorectal cancer type 580Feb 20, 2020
Hereditary nonpolyposis colorectal cancer type 7137Feb 20, 2020
Hereditary pancreatitis61Feb 20, 2020
Hereditary pyropoikilocytosis271Feb 20, 2020
Hereditary sensory and autonomic neuropathy type IC168Feb 20, 2020
Hereditary sensory and autonomic neuropathy type II32Oct 18, 2016
Hereditary sensory and autonomic neuropathy type IIA1Feb 1, 2019
Hereditary sensory and autonomic neuropathy type IIB55Feb 20, 2020
Hereditary sensory neuropathy type IE101Feb 20, 2020
Hereditary spastic paraplegia 1068Feb 20, 2020
Hereditary spastic paraplegia 1215Feb 20, 2020
Hereditary spastic paraplegia 1339Feb 20, 2020
Hereditary spastic paraplegia 15200Feb 20, 2020
Hereditary spastic paraplegia 39118Feb 20, 2020
Hereditary spastic paraplegia 3A42Feb 20, 2020
Hereditary spastic paraplegia 5A36Feb 20, 2020
Hereditary spastic paraplegia 6135Feb 20, 2020
Hereditary spastic paraplegia 786Feb 20, 2020
Hereditary spastic paraplegia 873Feb 20, 2020
Hermansky-Pudlak syndrome107Oct 18, 2016
Hermansky-Pudlak syndrome 1104Feb 20, 2020
Hermansky-Pudlak syndrome 268Feb 20, 2020
Hermansky-Pudlak syndrome 389Feb 20, 2020
Hermansky-Pudlak syndrome 4106Feb 20, 2020
Hermansky-Pudlak syndrome 5102Feb 20, 2020
Hermansky-Pudlak syndrome 651Feb 20, 2020
Hermansky-Pudlak syndrome 72Feb 1, 2019
Heterotaxia30Oct 18, 2016
Heterotaxy, visceral, 1, X-linked27Feb 20, 2020
Heterotaxy, visceral, 4, autosomal218Feb 20, 2020
Heterotopia, periventricular, autosomal recessive138Feb 20, 2020
Hidrotic ectodermal dysplasia syndrome53Feb 20, 2020
Hirschsprung Disease, Dominant43Oct 18, 2016
Hirschsprung Disease, Recessive3Oct 18, 2016
Hirschsprung disease 1127Feb 20, 2020
Hirschsprung disease 273Feb 20, 2020
Hirschsprung disease 380Feb 20, 2020
Hirschsprung disease 465Feb 20, 2020
Histidinemia113Feb 20, 2020
Histiocytic medullary reticulosis258Feb 20, 2020
Histiocytosis-lymphadenopathy plus syndrome67Feb 20, 2020
Holocarboxylase synthetase deficiency145Feb 20, 2020
Holoprosencephaly 11208Feb 20, 2020
Holoprosencephaly 49Feb 20, 2020
Holoprosencephaly 7182Feb 20, 2020
Holoprosencephaly 9140Feb 20, 2020
Holoprosencephaly sequence201Feb 20, 2020
Holt-Oram syndrome101Feb 20, 2020
Homocystinuria4Oct 18, 2016
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1Jul 16, 2020
Human HOXA1 syndromes26Feb 20, 2020
Hutchinson-Gilford syndrome71Feb 20, 2020
Hyaline fibromatosis syndrome146Feb 20, 2020
Hydatidiform mole, recurrent, 1107Feb 20, 2020
Hydrolethalus syndrome12Oct 18, 2016
Hyper-IgE recurrent infection syndrome 1, autosomal dominant66Feb 20, 2020
Hyper-IgE syndrome18Oct 18, 2016
Hyper-IgM syndrome type 256Feb 20, 2020
Hyper-IgM syndrome type 331Feb 20, 2020
Hyper-IgM syndrome type 554Feb 20, 2020
Hyperaldosteronism, familial, type I211Feb 20, 2020
Hyperalphalipoproteinemia 154Feb 20, 2020
Hyperammonemia, type III35Feb 20, 2020
Hypercalcemia, infantile, 193Feb 20, 2020
Hypercholanemia6Oct 18, 2016
Hypercholanemia, familial81Feb 20, 2020
Hyperekplexia69Oct 18, 2016
Hyperekplexia 138Feb 20, 2020
Hyperekplexia 260Feb 20, 2020
Hyperekplexia 36Feb 20, 2020
Hyperglycinuria160Feb 20, 2020
Hypergonadotropic hypogonadism34Oct 18, 2016
Hyperimmunoglobulin D with periodic fever60Feb 20, 2020
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive196Feb 20, 2020
Hyperinsulinemic hypoglycemia, familial, 1116Feb 20, 2020
Hyperinsulinemic hypoglycemia, familial, 444Feb 20, 2020
Hyperinsulinism due to glucokinase deficiency58Feb 20, 2020
Hyperinsulinism, Dominant42Oct 18, 2016
Hyperinsulinism, Dominant/Recessive20Oct 18, 2016
Hyperinsulinism-hyperammonemia syndrome48Feb 20, 2020
Hyperkalemic Periodic Paralysis5Oct 18, 2016
Hyperkalemic Periodic Paralysis Type 1199Feb 20, 2020
Hyperlipoproteinemia, type I110Feb 20, 2020
Hypermanganesemia with dystonia 144Feb 20, 2020
Hypermethioninemia3Oct 18, 2016
Hypermethioninemia due to adenosine kinase deficiency30Feb 20, 2020
Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency40Feb 20, 2020
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome101Feb 20, 2020
Hyperparathyroidism55Feb 20, 2020
Hyperparathyroidism 197Feb 20, 2020
Hyperparathyroidism 2105Feb 20, 2020
Hyperphenylalaninemia, BH4-deficient, D10Feb 20, 2020
Hyperphosphatasemia with bone disease55Feb 20, 2020
Hyperphosphatasia with mental retardation syndrome 146Feb 20, 2020
Hyperphosphatasia with mental retardation syndrome 265Feb 20, 2020
Hyperphosphatasia-intellectual disability syndrome2Oct 18, 2016
Hyperphosphatemic familial tumoral calcinosis 148Feb 20, 2020
Hyperphosphatemic familial tumoral calcinosis 3117Feb 20, 2020
Hyperprolinemia7Oct 18, 2016
Hyperthyroidism, nonautoimmune92Feb 20, 2020
Hyperthyroxinemia, dysalbuminemic1Oct 18, 2016
Hyperthyroxinemia, familial dysalbuminemic53Feb 20, 2020
Hypertrichotic osteochondrodysplasia Cantu type66Jul 16, 2020
Hypertrophic cardiomyopathy297Oct 18, 2016
Hypertrophic cardiomyopathy 2519Feb 20, 2020
Hypertrophic osteoarthropathy, primary, autosomal recessive, 167Feb 20, 2020
Hypertyrosinemia13Oct 18, 2016
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis59Feb 20, 2020
Hyperuricemic nephropathy, familial juvenile, 228Feb 20, 2020
Hypobetalipoproteinemia103Feb 20, 2020
Hypobetalipoproteinemia, familial, 1265Feb 20, 2020
Hypocalcemia3Oct 18, 2016
Hypocalcemia, autosomal dominant 159Feb 20, 2020
Hypocalciuric hypercalcemia, familial, type 159Feb 20, 2020
Hypogonadism with anosmia25Oct 18, 2016
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities119Feb 20, 2020
Hypogonadotropic hypogonadism 11 with or without anosmia38Feb 20, 2020
Hypogonadotropic hypogonadism 12 with or without anosmia17Feb 20, 2020
Hypogonadotropic hypogonadism 2 with or without anosmia137Feb 20, 2020
Hypogonadotropic hypogonadism 24 without anosmia25Feb 20, 2020
Hypogonadotropic hypogonadism 5 with or without anosmia202Feb 20, 2020
Hypogonadotropic hypogonadism 7 with or without anosmia100Feb 20, 2020
Hypohidrotic Ectodermal Dysplasia, Dominant52Feb 20, 2020
Hypohidrotic Ectodermal Dysplasia, Recessive45Oct 18, 2016
Hypohidrotic ectodermal dysplasia161Feb 20, 2020
Hypokalemic periodic paralysis29Oct 18, 2016
Hypokalemic periodic paralysis 1195Feb 20, 2020
Hypokalemic periodic paralysis, type 2199Feb 20, 2020
Hypomagnesemia 1, intestinal147Feb 20, 2020
Hypomagnesemia 4, renal121Feb 20, 2020
Hypomagnesemia 5, renal, with ocular involvement64Feb 20, 2020
Hypomagnesemia 6, renal57Feb 20, 2020
Hypomyelinating leukodystrophy 7163Feb 20, 2020
Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism70Feb 20, 2020
Hypomyelination and Congenital Cataract128Feb 20, 2020
Hypomyelination, global cerebral3Oct 18, 2016
Hypoparathyroidism-deafness-renal disease syndrome79Feb 20, 2020
Hypoparathyroidism-retardation-dysmorphism syndrome59Feb 20, 2020
Hypophosphatasia70Feb 20, 2020
Hypophosphatemic Rickets, Dominant7Oct 18, 2016
Hypophosphatemic Rickets, Recessive24Oct 18, 2016
Hypophosphatemic rickets, autosomal recessive, 2172Feb 20, 2020
Hypoplasia of the iris61Feb 20, 2020
Hypoplastic left heart syndrome 163Feb 20, 2020
Hypothyroidism, congenital, nongoitrous, 189Feb 20, 2020
Hypothyroidism, congenital, nongoitrous, 294Feb 20, 2020
Hypotonia, infantile, with psychomotor retardation and characteristic facies 22Jul 16, 2020
Hypotrichosis 6100Feb 20, 2020
Hystrix-like ichthyosis with deafness71Feb 20, 2020
I blood group system89Feb 20, 2020
IGHMBP2-related neuronopathy1Apr 1, 2020
IMPDH1-Related Disorders1Feb 1, 2019
ITPR1-related syndromic and non-syndromic hereditary ataxias1Apr 1, 2020
Ichthyosis bullosa of Siemens71Feb 20, 2020
Idiopathic basal ganglia calcification 184Feb 20, 2020
Idiopathic fibrosing alveolitis, chronic form48Feb 20, 2020
Idiopathic hypereosinophilic syndrome136Feb 20, 2020
Imerslund-Gräsbeck syndrome8Feb 1, 2019
Imerslund-Gräsbeck syndrome 1331Feb 20, 2020
Immunodeficiency 1727Feb 20, 2020
Immunodeficiency 1832Feb 20, 2020
Immunodeficiency 1913Feb 20, 2020
Immunodeficiency 2945Feb 20, 2020
Immunodeficiency 3074Feb 20, 2020
Immunodeficiency 31a92Feb 20, 2020
Immunodeficiency 51193Feb 20, 2020
Immunodeficiency due to defect in CD3-gamma4Oct 18, 2016
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency84Feb 20, 2020
Immunodeficiency with Hyper-IgM14Oct 18, 2016
Immunodeficiency-centromeric instability-facial anomalies syndrome 1114Feb 20, 2020
Inclusion Body Myopathy, Dominant46Oct 18, 2016
Inclusion Body Myopathy, Recessive63Oct 18, 2016
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 150Feb 20, 2020
Indifference to pain, congenital, autosomal recessive188Feb 20, 2020
Infantile Nystagmus1Oct 18, 2016
Infantile cortical hyperostosis157Feb 20, 2020
Infantile hypercalcemia6Oct 18, 2016
Infantile nephronophthisis67Feb 20, 2020
Infantile neuroaxonal dystrophy1Oct 18, 2016
Infantile nystagmus, X-linked40Feb 20, 2020
Infertility associated with multi-tailed spermatozoa and excessive DNA25Feb 20, 2020
Inflammatory bowel disease5Oct 18, 2016
Inflammatory bowel disease 1125Feb 20, 2020
Inflammatory bowel disease 25, autosomal recessive32Feb 20, 2020
Inflammatory bowel disease 28, autosomal recessive94Feb 20, 2020
Inherited Erythromelalgia86Oct 18, 2016
Insulin-resistant diabetes mellitus AND acanthosis nigricans242Feb 20, 2020
Intellectual Disability with Language Impairment and Autistic Features49Oct 18, 2016
Intellectual Disability, Dominant20Oct 18, 2016
Intellectual Disability, Recessive95Oct 18, 2016
Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations19Oct 18, 2016
Intellectual developmental disorder with persistence of fetal hemoglobin1Jul 16, 2020
Interleukin 2 receptor, alpha, deficiency of92Feb 20, 2020
Intrinsic factor deficiency31Feb 20, 2020
Iodotyrosyl coupling defect261Feb 20, 2020
Irido-corneo-trabecular dysgenesis198Feb 20, 2020
Iron Overload19Oct 18, 2016
Islet cell hyperplasia65Feb 20, 2020
Isolated GnRH Deficiency20Oct 18, 2016
Isolated Hyperparathyroidism8Oct 18, 2016
Isolated Nonsyndromic Congenital Heart Disease144Feb 20, 2020
Isolated coronal synostosis99Feb 20, 2020
Isolated growth hormone deficiency6Oct 18, 2016
Isolated growth hormone deficiency type 1B52Feb 20, 2020
Isolated sulfite oxidase deficiency48Feb 20, 2020
Isovaleryl-CoA dehydrogenase deficiency96Feb 20, 2020
Jackson-Weiss syndrome6Oct 18, 2016
Jalili syndrome85Feb 20, 2020
Jarcho-Levin syndrome5Oct 18, 2016
Jervell and Lange-Nielsen syndrome38Oct 18, 2016
Jervell and Lange-Nielsen syndrome 199Feb 20, 2020
Jervell and Lange-Nielsen syndrome 293Feb 20, 2020
Jeune thoracic dystrophy118Oct 18, 2016
Joubert syndrome89Oct 18, 2016
Joubert syndrome 175Feb 20, 2020
Joubert syndrome 1335Feb 20, 2020
Joubert syndrome 14103Feb 20, 2020
Joubert syndrome 15127Feb 20, 2020
Joubert syndrome 1627Feb 20, 2020
Joubert syndrome 17191Feb 20, 2020
Joubert syndrome 235Feb 20, 2020
Joubert syndrome 2474Feb 20, 2020
Joubert syndrome 3114Feb 20, 2020
Joubert syndrome 446Feb 20, 2020
Joubert syndrome 5130Feb 20, 2020
Joubert syndrome 661Feb 20, 2020
Joubert syndrome 7125Feb 20, 2020
Joubert syndrome 81Feb 1, 2019
Joubert syndrome 9109Feb 20, 2020
Junctional epidermolysis bullosa317Feb 20, 2020
Junctional epidermolysis bullosa gravis of Herlitz122Feb 20, 2020
Junctional epidermolysis bullosa, non-Herlitz type163Feb 20, 2020
Juvenile Polyposis45Oct 18, 2016
Juvenile hemochromatosis3Oct 18, 2016
Juvenile myoclonic epilepsy183Feb 1, 2019
Juvenile neuronal ceroid lipofuscinosis58Feb 20, 2020
Juvenile polyposis syndrome235Feb 20, 2020
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome172Feb 20, 2020
KAT6B-Related Spectrum Disorders6Oct 18, 2016
KCNE2-Related Disorders2Feb 1, 2019
KCNH1-related disorders1Apr 1, 2020
KCNJ10-Related Disorders1Feb 1, 2019
KCNJ11-Related Disorders1Feb 1, 2019
KCNQ1-Related Disorders2Feb 1, 2019
KCNQ2-Related Disorders1Jul 16, 2020
KIF7-related ciliopathy spectrum disorder2Jul 16, 2020
KMT2C-related disorders1Apr 1, 2020
KMT5B-related neurodevelopmental disorder1Jul 16, 2020
Kabuki Syndrome - KDM6A1Jul 16, 2020
Kabuki syndrome10Oct 18, 2016
Kabuki syndrome 11Apr 1, 2020
Kallmann syndrome 335Feb 20, 2020
Kartagener syndrome48Feb 20, 2020
Kaufman oculocerebrofacial syndrome1Jul 16, 2020
Keratitis ichthyosis and deafness syndrome3Oct 18, 2016
Keratitis, hereditary125Feb 20, 2020
Keratoconus1Oct 18, 2016
Keratosis follicularis87Feb 20, 2020
Keutel syndrome33Feb 20, 2020
Kindler's syndrome157Feb 20, 2020
Kleefstra syndrome 15Oct 18, 2016
Klippel Feil syndrome12Oct 18, 2016
Klippel-Feil syndrome 1, autosomal dominant79Feb 20, 2020
Knobloch syndrome 1206Feb 20, 2020
Kohlschutter's syndrome56Feb 20, 2020
Koolen-de Vries syndrome1Apr 1, 2020
Krabbe disease, atypical, due to saposin A deficiency68Feb 20, 2020
Kufor-Rakeb syndrome115Feb 20, 2020
LAMA3-Related Disorders1Feb 1, 2019
LARGE-related disorders1Feb 1, 2019
LCHAD Deficiency8Oct 18, 2016
LEOPARD syndrome 183Feb 20, 2020
LEOPARD syndrome 263Feb 20, 2020
LEOPARD syndrome 338Feb 20, 2020
LEPR-Related Disorders2Feb 1, 2019
LIDDLE SYNDROME 266Feb 20, 2020
LIG4-Related Disorders2Feb 1, 2019
LIPA-Related Disorders2Feb 1, 2019
LMNA-Related Disorders1Feb 1, 2019
LTBP2-Related Disorders1Feb 1, 2019
Lactate dehydrogenase B deficiency30Feb 20, 2020
Lactose intolerance61Oct 18, 2016
Lafora disease47Feb 20, 2020
Langer-Giedion syndrome2Oct 18, 2016
Laron-type isolated somatotropin defect94Feb 20, 2020
Larsen syndrome143Oct 18, 2016
Laryngo-onycho-cutaneous syndrome125Feb 20, 2020
Late-onset retinal degeneration89Feb 20, 2020
Lathosterolosis128Feb 20, 2020
Lattice corneal dystrophy Type III44Feb 20, 2020
Leber congenital amaurosis100Oct 18, 2016
Leber congenital amaurosis 10130Feb 20, 2020
Leber congenital amaurosis 1174Feb 20, 2020
Leber congenital amaurosis 12104Feb 20, 2020
Leber congenital amaurosis 1478Feb 20, 2020
Leber congenital amaurosis 1542Feb 20, 2020
Leber congenital amaurosis 1650Feb 20, 2020
Leber congenital amaurosis 265Feb 20, 2020
Leber congenital amaurosis 349Feb 20, 2020
Leber congenital amaurosis 496Feb 20, 2020
Leber congenital amaurosis 5100Feb 20, 2020
Leber congenital amaurosis 684Feb 20, 2020
Leber congenital amaurosis 7129Feb 20, 2020
Leber congenital amaurosis 869Feb 20, 2020
Left ventricular noncompaction 10102Feb 20, 2020
Left ventricular noncompaction 613Feb 20, 2020
Left ventricular noncompaction cardiomyopathy201Oct 18, 2016
Left-right axis malformations41Feb 20, 2020
Legius syndrome135Feb 20, 2020
Leigh syndrome842Feb 20, 2020
Leprechaunism syndrome243Feb 20, 2020
Leptin deficiency or dysfunction72Feb 20, 2020
Leptin receptor deficiency74Feb 20, 2020
Lethal Encephalopathy27Oct 18, 2016
Lethal Kniest-like syndrome457Feb 20, 2020
Lethal acantholytic epidermolysis bullosa196Feb 20, 2020
Lethal arthrogryposis with anterior horn cell disease57Feb 20, 2020
Lethal congenital contracture syndrome1Oct 18, 2016
Lethal congenital contracture syndrome 156Feb 20, 2020
Lethal multiple pterygium syndrome185Feb 20, 2020
Lethal tight skin contracture syndrome103Feb 20, 2020
Leukocyte adhesion deficiency3Oct 18, 2016
Leukocyte adhesion deficiency 1127Feb 20, 2020
Leukocyte adhesion deficiency type II74Feb 20, 2020
Leukodystrophy, Adult-Onset15Oct 18, 2016
Leukodystrophy, adult-onset, autosomal dominant43Feb 20, 2020
Leukodystrophy, hypomyelinating, 111Feb 1, 2019
Leukodystrophy, hypomyelinating, 641Jul 16, 2020
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome44Feb 20, 2020
Leukoencephalopathy with vanishing white matter220Feb 20, 2020
Leukoencephalopathy, brain calcifications, and cysts1Jul 16, 2020
Leukoencephalopathy, cystic, without megalencephaly45Apr 1, 2020
Levy-Hollister syndrome8Oct 18, 2016
Leydig cell hypoplasia, type 162Feb 20, 2020
Li-Fraumeni syndrome21Oct 18, 2016
Li-Fraumeni syndrome 146Feb 20, 2020
Liddle syndrome 165Feb 20, 2020
Lig4 syndrome84Feb 20, 2020
Limb-Girdle Muscular Dystrophy, Dominant73Oct 18, 2016
Limb-Girdle Muscular Dystrophy, Recessive535Oct 18, 2016
Limb-girdle muscular dystrophy, type 1E58Feb 20, 2020
Limb-girdle muscular dystrophy, type 2A97Jul 16, 2020
Limb-girdle muscular dystrophy, type 2J1775Feb 20, 2020
Limb-girdle muscular dystrophy-dystroglycanopathy, type C192Feb 20, 2020
Limb-girdle muscular dystrophy-dystroglycanopathy, type C2118Feb 20, 2020
Limb-girdle muscular dystrophy-dystroglycanopathy, type C342Feb 20, 2020
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules53Feb 20, 2020
Lipodystrophy, congenital generalized, type 463Feb 20, 2020
Lissencephaly 4124Feb 20, 2020
Lissencephaly, Recessive105Oct 18, 2016
Lissencephaly/Subcortical Band Heterotopia12Oct 18, 2016
Loeys-Dietz syndrome310Oct 18, 2016
Loeys-Dietz syndrome 1152Feb 20, 2020
Loeys-Dietz syndrome 259Feb 20, 2020
Loeys-Dietz syndrome 363Feb 20, 2020
Loeys-Dietz syndrome 4109Feb 20, 2020
Long QT syndrome118Feb 1, 2019
Long QT syndrome 1100Apr 1, 2020
Long QT syndrome 1259Feb 20, 2020
Long QT syndrome 288Feb 20, 2020
Long QT syndrome 3180Feb 20, 2020
Long QT syndrome 591Feb 20, 2020
Long QT syndrome 617Feb 20, 2020
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency58Feb 20, 2020
Lucey-Driscoll syndrome41Feb 20, 2020
Lung cancer1Oct 18, 2016
Lymphedema, primary, with myelodysplasia76Feb 20, 2020
Lymphoproliferative syndrome23Oct 18, 2016
Lymphoproliferative syndrome 185Feb 20, 2020
Lymphoproliferative syndrome 1, X-linked28Feb 20, 2020
Lymphoproliferative syndrome 2, X-linked95Feb 20, 2020
Lynch syndrome46Oct 18, 2016
Lynch syndrome I91Feb 20, 2020
Lynch syndrome II68Feb 20, 2020
Lysinuric protein intolerance61Feb 20, 2020
Lysosomal acid lipase deficiency53Feb 20, 2020
MAN1B1-Related Disorders1Apr 5, 2019
MAP2K1-Related Disorders1Feb 1, 2019
MAP2K1-related RASopathy1Apr 1, 2020
MAPT-Related Spectrum Disorders171Feb 20, 2020
MASP2 deficiency81Feb 20, 2020
MASS syndrome41Oct 18, 2016
MED13-related neurodevelopmental disorder1Apr 1, 2020
MED13L-related neurodevelopmental disorder2Jul 16, 2020
MEF2C-related complex neurodevelopmental disorder1Apr 1, 2020
MFN2-Related Disorders1Feb 1, 2019
MFRP-related disorders1Feb 1, 2019
MKKS-Related Disorders1Feb 1, 2019
MKS1-Related Disorders3Feb 1, 2019
MMP13-Related Disorders2Feb 1, 2019
MPDU1-CDG28Feb 20, 2020
MPI-CDG49Feb 20, 2020
MPL-Related Disorders5Feb 1, 2019
MPV17-Related Disorders1Feb 1, 2019
MPZ-Related Disorders1Feb 1, 2019
MVK-Related Disorders2Feb 1, 2019
MYBPC3-Related Disorders5Feb 20, 2020
MYH-associated polyposis64Feb 20, 2020
MYH3-Related Disorders1Feb 1, 2019
MYH6-Related Disorders1Feb 1, 2019
MYH7-Related Disorders1Oct 18, 2016
MYH9-related disorder208Feb 20, 2020
MYL2-Related Disorders1Feb 1, 2019
MYO7A-Related Disorders11Jul 16, 2020
MYOC-Related Disorders4Feb 1, 2019
MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS2Apr 1, 2020
Macular corneal dystrophy193Feb 20, 2020
Macular degeneration311Feb 20, 2020
Macular dystrophy, patterned, 182Feb 20, 2020
Macular dystrophy, vitelliform, adult-onset76Feb 20, 2020
Majeed syndrome195Feb 20, 2020
Male infertility4Oct 18, 2016
Malignant Melanoma Susceptibility6Oct 18, 2016
Malignant hyperthermia susceptibility81Oct 18, 2016
Malignant hyperthermia, susceptibility to, 1410Feb 20, 2020
Mandibuloacral dysplasia17Oct 18, 2016
Mandibuloacral dysplasia with type A lipodystrophy44Feb 20, 2020
Mandibuloacral dysplasia with type B lipodystrophy42Feb 20, 2020
Mannose-binding protein deficiency86Feb 20, 2020
Maple syrup urine disease314Feb 20, 2020
Maple syrup urine disease, type 370Feb 20, 2020
Marfan syndrome319Jul 16, 2020
Marinesco-Sjögren syndrome48Feb 20, 2020
Marshall syndrome15Oct 18, 2016
Mast syndrome31Feb 20, 2020
Mastocytosis87Feb 20, 2020
Maturity onset diabetes mellitus in young124Oct 18, 2016
Maturity-onset diabetes of the young type 649Feb 20, 2020
Maturity-onset diabetes of the young type 7100Feb 20, 2020
Maturity-onset diabetes of the young, type 1114Feb 20, 2020
Maturity-onset diabetes of the young, type 1018Feb 20, 2020
Maturity-onset diabetes of the young, type 1185Feb 20, 2020
Maturity-onset diabetes of the young, type 1365Feb 20, 2020
Maturity-onset diabetes of the young, type 258Feb 20, 2020
Maturity-onset diabetes of the young, type 369Feb 20, 2020
McKusick-Kaufman syndrome60Feb 20, 2020
Meacham syndrome113Feb 20, 2020
Meckel syndrome type 157Feb 20, 2020
Meckel syndrome type 6110Feb 20, 2020
Meckel syndrome type 786Feb 20, 2020
Meckel syndrome type 874Feb 20, 2020
Meckel syndrome, type 235Feb 20, 2020
Meckel syndrome, type 363Feb 20, 2020
Meckel syndrome, type 4130Feb 20, 2020
Meckel syndrome, type 5126Feb 20, 2020
Meckel syndrome, type 916Feb 20, 2020
Meckel-Gruber syndrome46Oct 18, 2016
Medium-chain acyl-coenzyme A dehydrogenase deficiency53Feb 20, 2020
Medulloblastoma93Feb 20, 2020
Megaconial type congenital muscular dystrophy41Feb 20, 2020
Megalencephalic leukoencephalopathy with subcortical cysts92Feb 20, 2020
Megalencephalic leukoencephalopathy with subcortical cysts 1116Feb 20, 2020
Megaloblastic anemia6Oct 18, 2016
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness67Feb 20, 2020
Meier-Gorlin syndrome19Oct 18, 2016
Meier-Gorlin syndrome 155Feb 20, 2020
Meier-Gorlin syndrome 336Feb 20, 2020
Meier-Gorlin syndrome 533Feb 20, 2020
Mental retardation 21, X-linked24Feb 20, 2020
Mental retardation 30, X-linked20Feb 20, 2020
Mental retardation, X-linked 7226Feb 20, 2020
Mental retardation, X-linked 9393Feb 20, 2020
Mental retardation, autosomal dominant 141Jul 16, 2020
Mental retardation, autosomal dominant 441Apr 1, 2020
Mental retardation, autosomal dominant 61Apr 1, 2020
Mental retardation, autosomal recessive 193Feb 20, 2020
Mental retardation, autosomal recessive 1313Feb 20, 2020
Mental retardation, autosomal recessive 15110Feb 20, 2020
Mental retardation, autosomal recessive 565Feb 20, 2020
Mental retardation, syndromic, Claes-Jensen type, X-linked1Apr 1, 2020
Meretoja syndrome75Feb 20, 2020
Mesangiocapillary glomerulonephritis, type II4Oct 18, 2016
Metachondromatosis91Feb 20, 2020
Metachromatic leukodystrophy172Feb 20, 2020
Metaphyseal anadysplasia53Feb 20, 2020
Metaphyseal anadysplasia 253Feb 20, 2020
Metaphyseal chondrodysplasia10Oct 18, 2016
Metaphyseal chondrodysplasia, Jansen type46Feb 20, 2020
Metaphyseal chondrodysplasia, Schmid type77Feb 20, 2020
Metatrophic dysplasia106Feb 20, 2020
Methylmalonate semialdehyde dehydrogenase deficiency96Feb 20, 2020
Methylmalonic acidemia52Oct 18, 2016
Methylmalonic acidemia with homocystinuria cblD35Feb 20, 2020
Methylmalonic aciduria and homocystinuria type cblF39Feb 20, 2020
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency74Feb 20, 2020
Methylmalonyl-CoA epimerase deficiency20Feb 20, 2020
Mevalonic aciduria59Feb 20, 2020
Microcephalic Osteodysplastic Primordial Dwarfism8Oct 18, 2016
Microcephalic osteodysplastic primordial dwarfism type II383Feb 20, 2020
Microcephaly with mental retardation and digital anomalies1Oct 18, 2016
Microcephaly, Cortical Malformations, and Intellectual Disability3Oct 18, 2016
Microcephaly, normal intelligence and immunodeficiency95Feb 20, 2020
Microcytic anemia99Feb 20, 2020
Microphthalmia syndromic 974Feb 20, 2020
Microphthalmia with brain and digit anomalies18Feb 20, 2020
Microphthalmia, isolated 277Feb 20, 2020
Microphthalmia, isolated 378Feb 20, 2020
Microphthalmia, isolated 587Feb 20, 2020
Microphthalmia, isolated 625Oct 18, 2016
Microphthalmia, isolated, with coloboma 377Feb 20, 2020
Microtia, hearing impairment, and cleft palate39Feb 20, 2020
Miller syndrome76Feb 20, 2020
Minicore myopathy408Feb 20, 2020
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type1Oct 18, 2016
Mitochondrial DNA depletion syndrome63Oct 18, 2016
Mitochondrial DNA depletion syndrome 1 (MNGIE type)60Feb 20, 2020
Mitochondrial DNA depletion syndrome 291Jul 16, 2020
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)54Feb 20, 2020
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)70Feb 20, 2020
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)39Feb 20, 2020
Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy80Feb 20, 2020
Mitochondrial DNA depletion syndrome, hepatocerebral form8Oct 18, 2016
Mitochondrial DNA-depletion syndrome 3, hepatocerebral27Feb 20, 2020
Mitochondrial complex 1 deficiency, nuclear type 221Feb 1, 2019
Mitochondrial complex 1 deficiency, nuclear type 311Apr 1, 2020
Mitochondrial complex 1 deficiency, nuclear type 53Apr 5, 2019
Mitochondrial complex I deficiency79Feb 1, 2019
Mitochondrial complex I deficiency, nuclear type 1