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Fulgent Genetics (Fulgent Genetics), FLGT

General information

Fulgent Genetics, FLGT
Fulgent Genetics
4978 Santa Anita Ave.
Suite 205
Temple City
California
United States - 91780
https://FulgentGenetics.com/
Organization ID: 500105

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 47421

Gene

GeneSubmissionsLast Updated
A2ML121Dec 13, 2022
AAAS5Dec 13, 2022
AAGAB1Dec 13, 2022
AARS19Dec 13, 2022
AARS23Dec 13, 2022
AASS2Dec 13, 2022
ABAT6Dec 13, 2022
ABCA15Dec 13, 2022
ABCA127Dec 13, 2022
ABCA21Dec 13, 2022
ABCA310Dec 13, 2022
ABCA463Dec 13, 2022
ABCA72Dec 13, 2022
ABCB1122Dec 13, 2022
ABCB45Dec 13, 2022
ABCB63Dec 13, 2022
ABCB72Dec 13, 2022
ABCC211Dec 13, 2022
ABCC6205Dec 13, 2022
ABCC8124Dec 13, 2022
ABCC946Dec 13, 2022
ABCD112Dec 13, 2022
ABCD45Dec 13, 2022
ABCG21Dec 13, 2022
ABCG512Dec 13, 2022
ABCG819Dec 13, 2022
ABHD121Dec 13, 2022
ABHD14A-ACY15Dec 13, 2022
ABI11Dec 13, 2022
ABL15Dec 13, 2022
ACAD82Dec 13, 2022
ACAD914Dec 13, 2022
ACADM22Dec 13, 2022
ACADS17Dec 13, 2022
ACADSB5Dec 13, 2022
ACADVL30Dec 13, 2022
ACAN5Dec 13, 2022
ACAT117Dec 13, 2022
ACBD61Dec 13, 2022
ACD3Dec 13, 2022
ACE58Dec 13, 2022
ACO27Dec 13, 2022
ACOX13Dec 13, 2022
ACOX21Dec 13, 2022
ACP41Dec 13, 2022
ACP52Dec 13, 2022
ACSF326Dec 13, 2022
ACSL43Dec 13, 2022
ACTA12Dec 13, 2022
ACTA210Dec 13, 2022
ACTA2-AS13Dec 13, 2022
ACTB29Dec 13, 2022
ACTC113Dec 13, 2022
ACTG15Dec 13, 2022
ACTG24Dec 13, 2022
ACTN11Dec 13, 2022
ACTN285Dec 13, 2022
ACTN446Dec 13, 2022
ACVR11Nov 14, 2018
ACVR2B1Dec 13, 2022
ACVRL129Dec 13, 2022
ACY15Dec 13, 2022
ACYP11Dec 13, 2022
ADA14Dec 13, 2022
ADA273Dec 13, 2022
ADAM101Dec 13, 2022
ADAM173Dec 13, 2022
ADAM221Dec 13, 2022
ADAMTS102Dec 13, 2022
ADAMTS1348Dec 13, 2022
ADAMTS171Dec 13, 2022
ADAMTS181Dec 13, 2022
ADAMTS223Dec 13, 2022
ADAMTS31Dec 13, 2022
ADAMTSL23Dec 13, 2022
ADAMTSL43Dec 13, 2022
ADAMTSL4-AS21Dec 13, 2022
ADAR12Dec 13, 2022
ADCY11Dec 13, 2022
ADCY1042Dec 13, 2022
ADCY57Dec 13, 2022
ADGRE21Dec 13, 2022
ADGRG16Dec 13, 2022
ADGRG61Dec 13, 2022
ADGRV196Dec 13, 2022
ADK1Dec 13, 2022
ADNP9Dec 13, 2022
ADNP-AS11Dec 13, 2022
ADRB32Dec 13, 2022
ADSL12Dec 13, 2022
ADSS11Dec 13, 2022
AEBP11Dec 13, 2022
AFF23Dec 13, 2022
AFF31Dec 13, 2022
AFF44Dec 13, 2022
AFG3L22Dec 13, 2022
AGA12Dec 13, 2022
AGA-DT1Dec 13, 2022
AGBL52Dec 13, 2022
AGK1Dec 13, 2022
AGL114Dec 13, 2022
AGPAT230Dec 13, 2022
AGPS2Dec 13, 2022
AGRN8Dec 13, 2022
AGRP1Dec 13, 2022
AGT25Dec 13, 2022
AGTR19Dec 13, 2022
AGXT71Dec 13, 2022
AHCY3Dec 13, 2022
AHDC13Dec 13, 2022
AHI1123Dec 13, 2022
AICDA1Dec 13, 2022
AIFM17Dec 13, 2022
AIMP21Dec 13, 2022
AIP5Dec 13, 2022
AIPL113Dec 13, 2022
AIRE29Dec 13, 2022
AK23Dec 13, 2022
AKAP9160Dec 13, 2022
AKR1D11Dec 13, 2022
AKT11Dec 13, 2022
AKT21Dec 13, 2022
AKT33Dec 13, 2022
ALAD1Dec 13, 2022
ALDH18A14Dec 13, 2022
ALDH1A31Dec 13, 2022
ALDH21Dec 13, 2022
ALDH3A26Dec 13, 2022
ALDH4A17Dec 13, 2022
ALDH5A111Dec 13, 2022
ALDH6A15Dec 13, 2022
ALDH7A17Dec 13, 2022
ALDOB17Dec 13, 2022
ALG188Dec 13, 2022
ALG111Dec 13, 2022
ALG123Dec 13, 2022
ALG1379Dec 13, 2022
ALG141Dec 13, 2022
ALG28Dec 13, 2022
ALG31Dec 13, 2022
ALG612Dec 13, 2022
ALG832Dec 13, 2022
ALG917Dec 13, 2022
ALK20Dec 13, 2022
ALKBH81Dec 13, 2022
ALMS1559Dec 13, 2022
ALPL82Dec 13, 2022
ALS28Dec 13, 2022
ALX42Dec 13, 2022
AMACR5Dec 13, 2022
AMER13Dec 13, 2022
AMH4Dec 13, 2022
AMHR21Dec 13, 2022
AMN39Dec 13, 2022
AMPD12Nov 14, 2018
AMPD21Dec 13, 2022
AMPD34Dec 13, 2022
AMT16Dec 13, 2022
ANAPC11Dec 13, 2022
ANGPT21Dec 13, 2022
ANK15Dec 13, 2022
ANK2205Dec 13, 2022
ANK325Dec 13, 2022
ANKH3Dec 13, 2022
ANKRD1117Dec 13, 2022
ANKRD264Dec 13, 2022
ANKS659Dec 13, 2022
ANLN8Dec 13, 2022
ANO103Dec 13, 2022
ANO31Nov 14, 2018
ANO511Dec 13, 2022
ANOS112Dec 13, 2022
ANTXR22Dec 13, 2022
AOPEP73Dec 13, 2022
AP1S11Dec 13, 2022
AP1S31Dec 13, 2022
AP2S17Dec 13, 2022
AP3B113Dec 13, 2022
AP3B22Dec 13, 2022
AP3D15Dec 13, 2022
AP3M12Dec 13, 2022
AP4B13Dec 13, 2022
AP4B1-AS11Nov 14, 2018
AP4E15Dec 13, 2022
AP4M15Dec 13, 2022
AP4S12Dec 13, 2022
AP5Z13Dec 13, 2022
APC93Dec 13, 2022
APC21Nov 14, 2018
APOA115Dec 13, 2022
APOA1-AS12Dec 13, 2022
APOA52Dec 13, 2022
APOB247Dec 13, 2022
APOB3'MAR4Dec 13, 2022
APOC23Dec 13, 2022
APOC4-APOC23Dec 13, 2022
APOE7Dec 13, 2022
APOL116Dec 13, 2022
APP10Dec 13, 2022
APPL13Dec 13, 2022
APRT15Dec 13, 2022
APTX2Dec 13, 2022
AQP213Dec 13, 2022
AQP5-AS16Dec 13, 2022
AR12Dec 13, 2022
ARCN11Dec 13, 2022
ARFGEF11Dec 13, 2022
ARFGEF1-DT4Dec 13, 2022
ARFGEF21Nov 14, 2018
ARG17Dec 13, 2022
ARHGAP311Dec 13, 2022
ARHGDIA1Dec 13, 2022
ARHGEF182Dec 13, 2022
ARHGEF21Dec 13, 2022
ARHGEF92Dec 13, 2022
ARID1A5Dec 13, 2022
ARID1B16Dec 13, 2022
ARID24Dec 13, 2022
ARL13B8Dec 13, 2022
ARL31Dec 13, 2022
ARL66Dec 13, 2022
ARMC53Dec 13, 2022
ARNT23Dec 13, 2022
ARSA33Dec 13, 2022
ARSB16Dec 13, 2022
ARSG1Dec 13, 2022
ARSL1Dec 13, 2022
ARX8Dec 13, 2022
ASAH115Dec 13, 2022
ASB101Dec 13, 2022
ASCL11Dec 13, 2022
ASH1L2Dec 13, 2022
ASIC4-AS18Dec 13, 2022
ASL16Dec 13, 2022
ASNS6Dec 13, 2022
ASPA11Dec 13, 2022
ASPM42Dec 13, 2022
ASS118Dec 13, 2022
ASTN285Dec 13, 2022
ASXL17Dec 13, 2022
ASXL21Dec 13, 2022
ASXL36Dec 13, 2022
ATAD11Dec 13, 2022
ATAD3A10Dec 13, 2022
ATIC12Dec 13, 2022
ATL15Dec 13, 2022
ATM230Dec 13, 2022
ATN13Dec 13, 2022
ATP13A239Dec 13, 2022
ATP1A216Dec 13, 2022
ATP1A319Dec 13, 2022
ATP2A11Dec 13, 2022
ATP2A24Dec 13, 2022
ATP2B31Dec 13, 2022
ATP6AP22Dec 13, 2022
ATP6V0A216Dec 13, 2022
ATP6V0A440Dec 13, 2022
ATP6V0D1-DT1Dec 13, 2022
ATP6V1A1Dec 13, 2022
ATP6V1B155Dec 13, 2022
ATP6V1B1-AS12Dec 13, 2022
ATP7A10Dec 13, 2022
ATP7B179Dec 13, 2022
ATP8B16Dec 13, 2022
ATP8B1-AS13Dec 13, 2022
ATPAF22Dec 13, 2022
ATR11Dec 13, 2022
ATRIP9Dec 13, 2022
ATRIP-TREX19Dec 13, 2022
ATRX13Dec 13, 2022
ATXN101Dec 13, 2022
AUH7Dec 13, 2022
AURKC1Dec 13, 2022
AUTS26Dec 13, 2022
AVP6Dec 13, 2022
AVPR218Dec 13, 2022
AXDND18Dec 13, 2022
AXIN12Dec 13, 2022
AXIN226Dec 13, 2022
AXL2Dec 13, 2022
B2M6Dec 13, 2022
B3GALNT22Nov 14, 2018
B3GALT63Dec 13, 2022
B3GAT33Dec 13, 2022
B3GLCT2Dec 13, 2022
B4GALT12Dec 13, 2022
B4GALT73Dec 13, 2022
B4GAT11Nov 14, 2018
B9D21Dec 13, 2022
BAAT2Dec 13, 2022
BACH22Dec 13, 2022
BAG362Dec 13, 2022
BAP117Dec 13, 2022
BARD137Dec 13, 2022
BBIP115Dec 13, 2022
BBOF15Dec 13, 2022
BBS194Dec 13, 2022
BBS1069Dec 13, 2022
BBS1272Dec 13, 2022
BBS2100Dec 13, 2022
BBS460Dec 13, 2022
BBS530Dec 13, 2022
BBS761Dec 13, 2022
BBS9110Dec 13, 2022
BCAM1Dec 13, 2022
BCHE6Dec 13, 2022
BCKDHA22Dec 13, 2022
BCKDHB8Dec 13, 2022
BCKDK2Dec 13, 2022
BCL101Dec 13, 2022
BCL11A1Dec 13, 2022
BCL2L2-PABPN11Dec 13, 2022
BCOR7Dec 13, 2022
BCORL14Dec 13, 2022
BCR1Dec 13, 2022
BCS1L24Dec 13, 2022
BDP12Dec 13, 2022
BEST18Dec 13, 2022
BGN3Dec 13, 2022
BICC110Dec 13, 2022
BICD23Dec 13, 2022
BIN14Dec 13, 2022
BIVM-ERCC511Dec 13, 2022
BLK24Dec 13, 2022
BLM61Dec 13, 2022
BLNK2Dec 13, 2022
BLOC1S1-RDH51Dec 13, 2022
BLOC1S32Dec 13, 2022
BLOC1S61Dec 13, 2022
BMP13Dec 13, 2022
BMP47Dec 13, 2022
BMPR1A10Dec 13, 2022
BMPR1B1Dec 13, 2022
BMPR239Dec 13, 2022
BNC21Dec 13, 2022
BOLA32Dec 13, 2022
BPTF3Dec 13, 2022
BRAF44Dec 13, 2022
BRAT117Dec 13, 2022
BRCA1156Dec 13, 2022
BRCA2217Dec 13, 2022
BRF11Dec 13, 2022
BRIP150Dec 13, 2022
BRPF11Dec 13, 2022
BRWD34Dec 13, 2022
BSCL243Dec 13, 2022
BSND31Dec 13, 2022
BTD24Dec 13, 2022
BTK4Dec 13, 2022
BUB1B17Dec 13, 2022
BUB1B-PAK62Dec 13, 2022
BVES1Dec 13, 2022
C10orf10510Dec 13, 2022
C11orf6580Dec 13, 2022
C12orf299Dec 13, 2022
C12orf432Dec 13, 2022
C12orf571Nov 14, 2018
C14orf391Nov 14, 2018
C17orf10716Dec 13, 2022
C1GALT1C11Dec 13, 2022
C1QTNF3-AMACR5Dec 13, 2022
C1QTNF55Dec 13, 2022
C1R1Dec 13, 2022
C1S4Dec 13, 2022
C210Dec 13, 2022
C2-AS11Dec 13, 2022
C22orf311Dec 13, 2022
C2CD31Dec 13, 2022
C398Dec 13, 2022
C3orf801Nov 14, 2018
C4orf471Dec 13, 2022
C598Dec 13, 2022
C5-OT13Dec 13, 2022
C615Dec 13, 2022
C711Dec 13, 2022
C8A3Dec 13, 2022
C8B6Dec 13, 2022
C96Dec 13, 2022
C9orf721Dec 13, 2022
CA218Dec 13, 2022
CABP23Dec 13, 2022
CACNA1A47Dec 13, 2022
CACNA1B6Dec 13, 2022
CACNA1C100Dec 13, 2022
CACNA1C-AS146Dec 13, 2022
CACNA1D17Dec 13, 2022
CACNA1E9Dec 13, 2022
CACNA1F3Dec 13, 2022
CACNA1G3Dec 13, 2022
CACNA1H587Dec 13, 2022
CACNA1S233Dec 13, 2022
CACNA2D29Dec 13, 2022
CACNA2D43Dec 13, 2022
CACNB245Dec 13, 2022
CACNB44Dec 13, 2022
CAD1Dec 13, 2022
CALM32Dec 13, 2022
CALR1Dec 13, 2022
CALR31Nov 14, 2018
CAMK2B4Dec 13, 2022
CAMTA17Dec 13, 2022
CANT11Dec 13, 2022
CAPN11Dec 13, 2022
CAPN351Dec 13, 2022
CAPN51Dec 13, 2022
CARD119Dec 13, 2022
CARD149Dec 13, 2022
CARD99Dec 13, 2022
CARMIL25Dec 13, 2022
CARS11Dec 13, 2022
CARS28Dec 13, 2022
CASD11Dec 13, 2022
CASK2Dec 13, 2022
CASP101Dec 13, 2022
CASP81Dec 13, 2022
CASQ11Dec 13, 2022
CASQ256Dec 13, 2022
CASR115Dec 13, 2022
CAST2Dec 13, 2022
CATIP-AS21Dec 13, 2022
CATSPER11Dec 13, 2022
CAV110Dec 13, 2022
CAV324Dec 13, 2022
CBL48Dec 13, 2022
CBS42Dec 13, 2022
CC2D1A7Dec 13, 2022
CC2D2A33Dec 13, 2022
CCBE13Dec 13, 2022
CCDC1034Dec 13, 2022
CCDC1071Dec 13, 2022
CCDC1413Dec 13, 2022
CCDC1741Dec 13, 2022
CCDC223Dec 13, 2022
CCDC28B1Dec 13, 2022
CCDC3923Dec 13, 2022
CCDC4027Dec 13, 2022
CCDC502Dec 13, 2022
CCDC655Dec 13, 2022
CCDC783Dec 13, 2022
CCDC82Dec 13, 2022
CCDC88A1Dec 13, 2022
CCDC88C13Dec 13, 2022
CCM22Dec 13, 2022
CCN61Dec 13, 2022
CCND21Dec 13, 2022
CCNH7Dec 13, 2022
CCNO2Dec 13, 2022
CD15111Dec 13, 2022
CD191Dec 13, 2022
CD2471Nov 14, 2018
CD2AP29Dec 13, 2022
CD361Dec 13, 2022
CD3D2Dec 13, 2022
CD3E1Dec 13, 2022
CD3G3Dec 13, 2022
CD401Dec 13, 2022
CD40LG1Nov 14, 2018
CD469Dec 13, 2022
CD553Dec 13, 2022
CD79A2Dec 13, 2022
CD79B1Dec 13, 2022
CD813Dec 13, 2022
CD961Dec 13, 2022
CDC14A1Dec 13, 2022
CDC423Dec 13, 2022
CDC7343Dec 13, 2022
CDCA71Dec 13, 2022
CDCA7L3Dec 13, 2022
CDH136Dec 13, 2022
CDH154Dec 13, 2022
CDH22Dec 13, 2022
CDH23128Dec 13, 2022
CDH23-AS14Dec 13, 2022
CDH33Dec 13, 2022
CDHR13Dec 13, 2022
CDK136Dec 13, 2022
CDK191Dec 13, 2022
CDK43Dec 13, 2022
CDK5RAP22Dec 13, 2022
CDKL59Dec 13, 2022
CDKN1B10Dec 13, 2022
CDKN1C50Dec 13, 2022
CDKN2A17Dec 13, 2022
CDON3Dec 13, 2022
CDSN1Dec 13, 2022
CDT13Dec 13, 2022
CEACAM164Dec 13, 2022
CEBPA8Dec 13, 2022
CEL18Dec 13, 2022
CELSR11Dec 13, 2022
CENPE1Nov 14, 2018
CENPF6Dec 13, 2022
CENPJ16Dec 13, 2022
CEP1042Dec 13, 2022
CEP1201Dec 13, 2022
CEP1281Dec 13, 2022
CEP1528Dec 13, 2022
CEP164164Dec 13, 2022
CEP2501Dec 13, 2022
CEP250-AS11Dec 13, 2022
CEP290281Dec 13, 2022
CEP414Dec 13, 2022
CEP574Dec 13, 2022
CEP784Dec 13, 2022
CEP85L15Dec 13, 2022
CERKL8Dec 13, 2022
CERS12Dec 13, 2022
CETP8Dec 13, 2022
CFAP2981Dec 13, 2022
CFAP298-TCP10L1Dec 13, 2022
CFAP41821Dec 13, 2022
CFAP418-AS17Dec 13, 2022
CFAP531Dec 13, 2022
CFAP924Dec 13, 2022
CFB10Dec 13, 2022
CFH78Dec 13, 2022
CFHR11Dec 13, 2022
CFHR36Dec 13, 2022
CFHR521Dec 13, 2022
CFI55Dec 13, 2022
CFP1Dec 13, 2022
CFTR165Dec 13, 2022
CFTR-AS119Dec 13, 2022
CHAMP12Dec 13, 2022
CHAT3Dec 13, 2022
CHD12Dec 13, 2022
CHD213Dec 13, 2022
CHD42Dec 13, 2022
CHD7220Dec 13, 2022
CHD87Dec 13, 2022
CHEK264Dec 13, 2022
CHM1Nov 14, 2018
CHMP2B1Dec 13, 2022
CHPT11Nov 14, 2018
CHRM33Dec 13, 2022
CHRNA12Dec 13, 2022
CHRNA28Dec 13, 2022
CHRNA34Dec 13, 2022
CHRNA414Dec 13, 2022
CHRNB28Dec 13, 2022
CHRND5Dec 13, 2022
CHRNE24Dec 13, 2022
CHRNG7Dec 13, 2022
CHROMR3Dec 13, 2022
CHST32Dec 13, 2022
CHST66Dec 13, 2022
CHSY15Dec 13, 2022
CIB25Dec 13, 2022
CIC2Dec 13, 2022
CIITA18Dec 13, 2022
CILK11Dec 13, 2022
CISD27Dec 13, 2022
CIT1Dec 13, 2022
CIZ12Dec 13, 2022
CKAP2L1Dec 13, 2022
CLASP18Dec 13, 2022
CLCC12Dec 13, 2022
CLCN119Dec 13, 2022
CLCN240Dec 13, 2022
CLCN44Dec 13, 2022
CLCN522Dec 13, 2022
CLCN74Dec 13, 2022
CLCNKA3Dec 13, 2022
CLCNKB50Dec 13, 2022
CLDN142Dec 13, 2022
CLDN14-AS12Dec 13, 2022
CLDN1610Dec 13, 2022
CLDN1917Dec 13, 2022
CLEC7A2Dec 13, 2022
CLN310Dec 13, 2022
CLN511Dec 13, 2022
CLN614Dec 13, 2022
CLN815Dec 13, 2022
CLPB6Dec 13, 2022
CLPP2Dec 13, 2022
CLRN19Dec 13, 2022
CLRN1-AS11Dec 13, 2022
CLTC1Dec 13, 2022
CNGA17Dec 13, 2022
CNGA35Dec 13, 2022
CNGB117Dec 13, 2022
CNGB312Dec 13, 2022
CNNM218Dec 13, 2022
CNTN12Dec 13, 2022
CNTN28Dec 13, 2022
CNTNAP12Dec 13, 2022
CNTNAP234Dec 13, 2022
COA61Dec 13, 2022
COA817Dec 13, 2022
COASY1Dec 13, 2022
COG11Dec 13, 2022
COG21Dec 13, 2022
COG43Dec 13, 2022
COG512Dec 13, 2022
COG66Dec 13, 2022
COG77Dec 13, 2022
COG84Dec 13, 2022
COL11A119Dec 13, 2022
COL11A217Dec 13, 2022
COL12A143Dec 13, 2022
COL13A11Dec 13, 2022
COL17A13Dec 13, 2022
COL18A125Dec 13, 2022
COL1A137Dec 13, 2022
COL1A217Dec 13, 2022
COL27A17Dec 13, 2022
COL2A126Dec 13, 2022
COL3A181Dec 13, 2022
COL4A1116Dec 13, 2022
COL4A28Dec 13, 2022
COL4A3159Dec 13, 2022
COL4A4175Dec 13, 2022
COL4A5144Dec 13, 2022
COL4A65Dec 13, 2022
COL5A150Dec 13, 2022
COL5A219Dec 13, 2022
COL6A112Dec 13, 2022
COL6A211Dec 13, 2022
COL6A323Dec 13, 2022
COL7A168Dec 13, 2022
COL9A114Dec 13, 2022
COL9A210Dec 13, 2022
COL9A317Dec 13, 2022
COMP4Dec 13, 2022
COMT2Dec 13, 2022
COPA5Dec 13, 2022
COPB21Dec 13, 2022
COQ237Dec 13, 2022
COQ43Dec 13, 2022
COQ617Dec 13, 2022
COQ8A9Dec 13, 2022
COQ8B3Dec 13, 2022
COQ94Dec 13, 2022
CORO1A4Dec 13, 2022
COX1025Dec 13, 2022
COX144Dec 13, 2022
COX152Dec 13, 2022
COX2013Dec 13, 2022
COX4I11Dec 13, 2022
COX6B16Dec 13, 2022
COX8A4Dec 13, 2022
CP19Dec 13, 2022
CPA67Dec 13, 2022
CPE2Dec 13, 2022
CPEB1-AS11Dec 13, 2022
CPLANE1219Dec 13, 2022
CPOX3Dec 13, 2022
CPS126Dec 13, 2022
CPT1A14Dec 13, 2022
CPT1C1Dec 13, 2022
CPT278Dec 13, 2022
CR11Dec 13, 2022
CR27Dec 13, 2022
CRAT2Dec 13, 2022
CRB136Dec 13, 2022
CRB211Dec 13, 2022
CREB3L11Nov 14, 2018
CREB3L34Dec 13, 2022
CREBBP102Dec 13, 2022
CRELD12Dec 13, 2022
CRLF11Dec 13, 2022
CRPPA1Dec 13, 2022
CRPPA-AS11Dec 13, 2022
CRTAP3Dec 13, 2022
CRX2Dec 13, 2022
CRYAB15Dec 13, 2022
CRYBA11Dec 13, 2022
CRYBA41Dec 13, 2022
CRYBB11Dec 13, 2022
CRYBB31Dec 13, 2022
CRYGS1Dec 13, 2022
CRYM5Dec 13, 2022
CSF1R7Dec 13, 2022
CSF2RA1Dec 13, 2022
CSF2RB1Dec 13, 2022
CSF3R4Dec 13, 2022
CSGALNACT15Dec 13, 2022
CSNK2A11Dec 13, 2022
CSPP15Dec 13, 2022
CSRP335Dec 13, 2022
CSRP3-AS11Dec 13, 2022
CST31Dec 13, 2022
CSTB2Dec 13, 2022
CTBP11Dec 13, 2022
CTC122Dec 13, 2022
CTCF2Dec 13, 2022
CTDP13Dec 13, 2022
CTF11Nov 14, 2018
CTNNA19Dec 13, 2022
CTNNA39Dec 13, 2022
CTNNB17Dec 13, 2022
CTNND21Jul 27, 2020
CTNS48Dec 13, 2022
CTNS-AS123Dec 13, 2022
CTPS11Dec 13, 2022
CTRC1Dec 13, 2022
CTSA4Dec 13, 2022
CTSC8Dec 13, 2022
CTSD11Dec 13, 2022
CTSF3Dec 13, 2022
CTSK8Dec 13, 2022
CTU23Dec 13, 2022
CTXN2-AS114Dec 13, 2022
CUBN196Dec 13, 2022
CUL39Dec 13, 2022
CUL4B2Dec 13, 2022
CUL76Dec 13, 2022
CUX24Dec 13, 2022
CWF19L12Dec 13, 2022
CXCR44Dec 13, 2022
CYB561D26Dec 13, 2022
CYB5R35Dec 13, 2022
CYBA5Dec 13, 2022
CYBB6Dec 13, 2022
CYC11Dec 13, 2022
CYFIP26Dec 13, 2022
CYLD1Dec 13, 2022
CYP11A114Dec 13, 2022
CYP11B156Dec 13, 2022
CYP11B242Dec 13, 2022
CYP17A127Dec 13, 2022
CYP17A1-AS14Dec 13, 2022
CYP19A12Dec 13, 2022
CYP1B125Dec 13, 2022
CYP21A218Dec 13, 2022
CYP24A131Dec 13, 2022
CYP27A125Dec 13, 2022
CYP27B118Dec 13, 2022
CYP2R120Dec 13, 2022
CYP2U1-AS12Dec 13, 2022
CYP4F222Dec 13, 2022
CYP4V21Dec 13, 2022
CYP7B13Dec 13, 2022
CZ1P-ASNS6Dec 13, 2022
D2HGDH3Dec 13, 2022
DACT12Dec 13, 2022
DAG13Dec 13, 2022
DARS26Dec 13, 2022
DBH1Dec 13, 2022
DBT7Dec 13, 2022
DCAF613Dec 13, 2022
DCAF81Dec 13, 2022
DCC4Dec 13, 2022
DCDC223Dec 13, 2022
DCHS13Dec 13, 2022
DCLRE1C10Dec 13, 2022
DCTN121Dec 13, 2022
DDB21Dec 13, 2022
DDC2Dec 13, 2022
DDC-AS11Dec 13, 2022
DDHD22Dec 13, 2022
DDOST2Dec 13, 2022
DDR21Dec 13, 2022
DDX111Dec 13, 2022
DDX3X4Dec 13, 2022
DDX412Dec 13, 2022
DEAF14Dec 13, 2022
DENND5A1Dec 13, 2022
DEPDC523Dec 13, 2022
DES56Dec 13, 2022
DGAT11Nov 14, 2018
DGCR61Dec 13, 2022
DGKE16Dec 13, 2022
DGUOK3Dec 13, 2022
DHCR244Dec 13, 2022
DHCR7102Dec 13, 2022
DHDDS5Dec 13, 2022
DHODH2Dec 13, 2022
DHTKD12Dec 13, 2022
DHX386Dec 13, 2022
DIABLO1Dec 13, 2022
DIAPH19Dec 13, 2022
DICER126Dec 13, 2022
DIPK1A23Dec 13, 2022
DIS3L221Dec 13, 2022
DKC13Dec 13, 2022
DLC112Dec 13, 2022
DLD6Dec 13, 2022
DLG42Dec 13, 2022
DLGAP4-AS11Mar 9, 2020
DLL11Dec 13, 2022
DLL32Dec 13, 2022
DLL41Dec 13, 2022
DLX31Dec 13, 2022
DLX41Dec 13, 2022
DM1-AS8Dec 13, 2022
DMAC2L2Dec 13, 2022
DMD145Dec 13, 2022
DMP116Dec 13, 2022
DMXL25Dec 13, 2022
DNA27Dec 13, 2022
DNAAF115Dec 13, 2022
DNAAF113Dec 13, 2022
DNAAF28Dec 13, 2022
DNAAF36Dec 13, 2022
DNAAF3-AS15Dec 13, 2022
DNAAF44Dec 13, 2022
DNAAF4-CCPG14Dec 13, 2022
DNAAF519Dec 13, 2022
DNAH126Dec 13, 2022
DNAH1165Dec 13, 2022
DNAH171Dec 13, 2022
DNAH578Dec 13, 2022
DNAH821Dec 13, 2022
DNAH8-AS14Dec 13, 2022
DNAH915Dec 13, 2022
DNAI117Dec 13, 2022
DNAI214Dec 13, 2022
DNAJB131Dec 13, 2022
DNAJB21Dec 13, 2022
DNAJC214Dec 13, 2022
DNAJC51Dec 13, 2022
DNAJC61Dec 13, 2022
DNAL11Dec 13, 2022
DNASE1L336Dec 13, 2022
DNHD12Dec 13, 2022
DNM16Dec 13, 2022
DNM1L4Dec 13, 2022
DNM25Dec 13, 2022
DNMT126Dec 13, 2022
DNMT3A2Dec 13, 2022
DOCK23Dec 13, 2022
DOCK31Dec 13, 2022
DOCK68Dec 13, 2022
DOCK79Dec 13, 2022
DOCK86Dec 13, 2022
DOCK8-AS11Dec 13, 2022
DOK712Dec 13, 2022
DOLK36Dec 13, 2022
DPAGT12Dec 13, 2022
DPF21Dec 13, 2022
DPM11Dec 13, 2022
DPM22Dec 13, 2022
DPP64Dec 13, 2022
DPYD18Dec 13, 2022
DPYD-AS14Dec 13, 2022
DRC115Dec 13, 2022
DSC271Dec 13, 2022
DSCAS6Dec 13, 2022
DSE3Dec 13, 2022
DSG14Dec 13, 2022
DSG1-AS13Dec 13, 2022
DSG2101Dec 13, 2022
DSG2-AS144Dec 13, 2022
DSP240Dec 13, 2022
DSP-AS19Dec 13, 2022
DSPP3Dec 13, 2022
DST4Dec 13, 2022
DTNA4Dec 13, 2022
DTNBP13Dec 13, 2022
DUOX225Dec 13, 2022
DUOXA22Dec 13, 2022
DUSP2936Dec 13, 2022
DVL14Dec 13, 2022
DVL21Dec 13, 2022
DYM1Dec 13, 2022
DYNC1H127Dec 13, 2022
DYNC2H117Dec 13, 2022
DYNC2I23Dec 13, 2022
DYNC2LI18Dec 13, 2022
DYRK1A2Dec 13, 2022
DYSF53Dec 13, 2022
DZIP1L2Dec 13, 2022
EARS24Dec 13, 2022
EBP4Dec 13, 2022
ECEL11Dec 13, 2022
ECHS14Dec 13, 2022
EDA7Dec 13, 2022
EDAR2Dec 13, 2022
EDN33Dec 13, 2022
EDNRA7Dec 13, 2022
EDNRB3Dec 13, 2022
EDNRB-AS13Dec 13, 2022
EEF1A25Dec 13, 2022
EEF2KMT7Dec 13, 2022
EFEMP11Dec 13, 2022
EFEMP26Dec 13, 2022
EFHC113Dec 13, 2022
EFL11Dec 13, 2022
EFTUD23Dec 13, 2022
EGF29Dec 13, 2022
EGFR2Dec 13, 2022
EGLN13Dec 13, 2022
EHHADH2Dec 13, 2022
EHMT115Dec 13, 2022
EIF2AK362Dec 13, 2022
EIF2AK42Dec 13, 2022
EIF2B12Dec 13, 2022
EIF2B22Dec 13, 2022
EIF2B32Dec 13, 2022
EIF2B42Dec 13, 2022
EIF2B510Dec 13, 2022
EIF4G14Dec 13, 2022
ELAC28Dec 13, 2022
ELANE5Dec 13, 2022
ELMO21Dec 13, 2022
ELMOD32Dec 13, 2022
ELN18Dec 13, 2022
ELN-AS13Dec 13, 2022
ELOVL43Dec 13, 2022
ELP1146Dec 13, 2022
ELP41Nov 14, 2018
EMC16Dec 13, 2022
EMC1-AS15Dec 13, 2022
EMD15Dec 13, 2022
EMP21Dec 13, 2022
ENG35Dec 13, 2022
ENO35Dec 13, 2022
ENPP126Dec 13, 2022
ENTPD515Dec 13, 2022
ENTREP22Dec 13, 2022
EP30012Dec 13, 2022
EPB411Dec 13, 2022
EPCAM10Dec 13, 2022
EPG56Dec 13, 2022
EPHA22Dec 13, 2022
EPHB43Dec 13, 2022
EPM2A6Dec 13, 2022
EPM2A-DT3Dec 13, 2022
EPS84Dec 13, 2022
EPX1Dec 13, 2022
ERBB42Dec 13, 2022
ERCC223Dec 13, 2022
ERCC314Dec 13, 2022
ERCC422Dec 13, 2022
ERCC511Dec 13, 2022
ERCC628Dec 13, 2022
ERCC6-PGBD36Dec 13, 2022
ERCC6L24Dec 13, 2022
ERCC87Dec 13, 2022
ERCC8-AS11Dec 13, 2022
ERF1Nov 14, 2018
ERMARD2Dec 13, 2022
ESCO23Dec 13, 2022
ESPN7Dec 13, 2022
ESR13Dec 13, 2022
ESR21Dec 13, 2022
ETFA6Dec 13, 2022
ETFB3Dec 13, 2022
ETFDH25Dec 13, 2022
ETHE15Dec 13, 2022
EVC16Dec 13, 2022
EVC233Dec 13, 2022
EXOC81Dec 13, 2022
EXOSC37Dec 13, 2022
EXOSC81Dec 13, 2022
EXT14Dec 13, 2022
EXT212Dec 13, 2022
EXTL34Dec 13, 2022
EYA141Dec 13, 2022
EYA429Dec 13, 2022
EYS71Dec 13, 2022
EZH23Dec 13, 2022
F1120Dec 13, 2022
F11-AS13Dec 13, 2022
F126Dec 13, 2022
F13A11Dec 13, 2022
F13B1Dec 13, 2022
F21Dec 13, 2022
F56Dec 13, 2022
F79Dec 13, 2022
F814Dec 13, 2022
F910Dec 13, 2022
FA2H1Nov 14, 2018
FAAH1Dec 13, 2022
FAH14Dec 13, 2022
FAM111A1Dec 13, 2022
FAM161A10Dec 13, 2022
FAM20A29Dec 13, 2022
FAM20C9Dec 13, 2022
FAM83H2Dec 13, 2022
FAN123Dec 13, 2022
FANCA346Dec 13, 2022
FANCB28Dec 13, 2022
FANCC109Dec 13, 2022
FANCD2138Dec 13, 2022
FANCD2OS42Dec 13, 2022
FANCE74Dec 13, 2022
FANCF45Dec 13, 2022
FANCG69Dec 13, 2022
FANCI182Dec 13, 2022
FANCL55Dec 13, 2022
FANCM222Dec 13, 2022
FAR11Dec 13, 2022
FARS23Dec 13, 2022
FARSB2Dec 13, 2022
FAS2Dec 13, 2022
FASLG1Dec 13, 2022
FASN5Nov 14, 2018
FASTKD238Dec 13, 2022
FAT21Dec 13, 2022
FAT411Dec 13, 2022
FBLN11Dec 13, 2022
FBLN52Dec 13, 2022
FBN1247Dec 13, 2022
FBN237Dec 13, 2022
FBP11Dec 13, 2022
FBXL38Dec 13, 2022
FBXL45Dec 13, 2022
FBXO112Dec 13, 2022
FBXO381Dec 13, 2022
FBXO79Dec 13, 2022
FCHO11Dec 13, 2022
FCN34Dec 13, 2022
FDXR1Dec 13, 2022
FERMT33Dec 13, 2022
FEZF11Dec 13, 2022
FGA18Dec 13, 2022
FGB1Dec 13, 2022
FGD12Dec 13, 2022
FGF101Dec 13, 2022
FGF122Dec 13, 2022
FGF2316Dec 13, 2022
FGF31Nov 14, 2018
FGF81Dec 13, 2022
FGFR173Dec 13, 2022
FGFR255Dec 13, 2022
FGFR326Dec 13, 2022
FGFRL11Dec 13, 2022
FH23Dec 13, 2022
FHL115Dec 13, 2022
FIG48Dec 13, 2022
FKBP105Dec 13, 2022
FKBP141Dec 13, 2022
FKBP14-AS11Dec 13, 2022
FKRP69Dec 13, 2022
FKTN54Dec 13, 2022
FKTN-AS11Dec 13, 2022
FLAD11Dec 13, 2022
FLCN110Dec 13, 2022
FLG9Dec 13, 2022
FLG-AS12Dec 13, 2022
FLNA39Dec 13, 2022
FLNB18Dec 13, 2022
FLNC131Dec 13, 2022
FLNC-AS140Dec 13, 2022
FLVCR13Dec 13, 2022
FMN22Dec 13, 2022
FMO35Dec 13, 2022
FMR13Dec 13, 2022
FN1127Dec 13, 2022
FNDC81Dec 13, 2022
FOLR12Dec 13, 2022
FOXC127Dec 13, 2022
FOXC24Dec 13, 2022
FOXE11Dec 13, 2022
FOXE31Dec 13, 2022
FOXF11Dec 13, 2022
FOXG13Dec 13, 2022
FOXI111Dec 13, 2022
FOXL23Dec 13, 2022
FOXN13Dec 13, 2022
FOXP12Dec 13, 2022
FOXP27Dec 13, 2022
FOXP328Dec 13, 2022
FOXRED13Dec 13, 2022
FPGT-TNNI3K2Dec 13, 2022
FRA11B2Dec 13, 2022
FRAS1164Dec 13, 2022
FREM165Dec 13, 2022
FREM2101Dec 13, 2022
FRMD4A2Dec 13, 2022
FRMD71Dec 13, 2022
FRMPD43Dec 13, 2022
FSCN25Dec 13, 2022
FTCD7Dec 13, 2022
FTCD-AS11Dec 13, 2022
FTL2Dec 13, 2022
FTSJ11Dec 13, 2022
FUCA14Dec 13, 2022
FUS4Dec 13, 2022
FUT21Dec 13, 2022
FUZ1Dec 13, 2022
FXR11Dec 13, 2022
FXYD210Dec 13, 2022
FXYD6-FXYD210Dec 13, 2022
FYCO13Dec 13, 2022
FZD42Dec 13, 2022
G6PC138Dec 13, 2022
G6PC31Dec 13, 2022
G6PD13Dec 13, 2022
GAA184Dec 13, 2022
GABBR23Dec 13, 2022
GABRA11Dec 13, 2022
GABRA51Dec 13, 2022
GABRB23Dec 13, 2022
GABRB32Nov 14, 2018
GABRD4Dec 13, 2022
GABRG22Dec 13, 2022
GALC27Dec 13, 2022
GALE7Dec 13, 2022
GALK130Dec 13, 2022
GALNS20Dec 13, 2022
GALNT128Dec 13, 2022
GALNT21Dec 13, 2022
GALNT320Dec 13, 2022
GALT20Dec 13, 2022
GAMT20Dec 13, 2022
GAN5Dec 13, 2022
GANAB25Dec 13, 2022
GAREM212Dec 13, 2022
GARS12Nov 14, 2018
GAS84Dec 13, 2022
GATA16Dec 13, 2022
GATA29Dec 13, 2022
GATA315Dec 13, 2022
GATA47Dec 13, 2022
GATA68Dec 13, 2022
GATAD118Dec 13, 2022
GATAD2B1Dec 13, 2022
GATM39Dec 13, 2022
GBA156Dec 13, 2022
GBE114Dec 13, 2022
GBF11Dec 13, 2022
GCDH29Dec 13, 2022
GCH17Dec 13, 2022
GCK35Dec 13, 2022
GCKR6Dec 13, 2022
GCM215Dec 13, 2022
GCSH3Dec 13, 2022
GDAP110Dec 13, 2022
GDF12Dec 13, 2022
GDF29Dec 13, 2022
GDF31Dec 13, 2022
GDF51Dec 13, 2022
GDF5-AS11Dec 13, 2022
GDF61Dec 13, 2022
GDI11Dec 13, 2022
GDNF6Dec 13, 2022
GEMIN51Dec 13, 2022
GFAP6Dec 13, 2022
GFI16Dec 13, 2022
GFI1B1Dec 13, 2022
GFM110Dec 13, 2022
GFM21Dec 13, 2022
GFPT12Dec 13, 2022
GGCX1Dec 13, 2022
GH-LCR128Dec 13, 2022
GH13Dec 13, 2022
GHR2Dec 13, 2022
GHRL1Dec 13, 2022
GHRLOS1Dec 13, 2022
GIPC34Dec 13, 2022
GJA13Dec 13, 2022
GJA31Dec 13, 2022
GJA51Nov 14, 2018
GJA81Dec 13, 2022
GJB18Dec 13, 2022
GJB260Dec 13, 2022
GJB35Dec 13, 2022
GJB42Dec 13, 2022
GJB67Dec 13, 2022
GJC22Dec 13, 2022
GJD2-DT13Dec 13, 2022
GLA50Dec 13, 2022
GLB118Dec 13, 2022
GLDC34Dec 13, 2022
GLE13Dec 13, 2022
GLI210Dec 13, 2022
GLI386Dec 13, 2022
GLIS228Dec 13, 2022
GLIS355Dec 13, 2022
GLIS3-AS17Dec 13, 2022
GLMN2Dec 13, 2022
GLRA15Dec 13, 2022
GLRB2Dec 13, 2022
GLUD11Dec 13, 2022
GML14Dec 13, 2022
GMPPA5Dec 13, 2022
GMPPB3Dec 13, 2022
GNA1126Dec 13, 2022
GNAL1Dec 13, 2022
GNAO15Dec 13, 2022
GNAS51Dec 13, 2022
GNAS-AS11Dec 13, 2022
GNAT12Dec 13, 2022
GNB11Dec 13, 2022
GNE19Dec 13, 2022
GNG31Dec 13, 2022
GNPAT5Dec 13, 2022
GNPTAB24Dec 13, 2022
GNPTG8Dec 13, 2022
GNRHR7Dec 13, 2022
GNS6Dec 13, 2022
GOSR23Dec 13, 2022
GP1BA4Dec 13, 2022
GP1BB2Dec 13, 2022
GP93Dec 13, 2022
GPC325Dec 13, 2022
GPC41Dec 13, 2022
GPD1L27Dec 13, 2022
GPHN15Dec 13, 2022
GPI1Dec 13, 2022
GPLD13Dec 13, 2022
GPR1431Dec 13, 2022
GPR1795Dec 13, 2022
GPR191Dec 13, 2022
GPSM27Dec 13, 2022
GPX11Dec 13, 2022
GRHL23Dec 13, 2022
GRHL32Dec 13, 2022
GRHPR32Dec 13, 2022
GRIA21Dec 13, 2022
GRIA32Dec 13, 2022
GRIA41Dec 13, 2022
GRIK21Dec 13, 2022
GRIN12Dec 13, 2022
GRIN2A14Dec 13, 2022
GRIN2B7Dec 13, 2022
GRIN2D1Dec 13, 2022
GRIP124Dec 13, 2022
GRM19Dec 13, 2022
GRM62Dec 13, 2022
GRN28Dec 13, 2022
GRXCR11Dec 13, 2022
GRXCR21Dec 13, 2022
GSDME2Dec 13, 2022
GSN86Dec 13, 2022
GTF2H51Dec 13, 2022
GTF3C2-AS22Dec 13, 2022
GTPBP32Dec 13, 2022
GUCY2D16Dec 13, 2022
GUSB12Dec 13, 2022
GYG17Dec 13, 2022
GYS11Dec 13, 2022
GYS27Dec 13, 2022
H6PD2Dec 13, 2022
HABP22Dec 13, 2022
HACE11Dec 13, 2022
HADH5Dec 13, 2022
HADHA21Dec 13, 2022
HADHB4Dec 13, 2022
HARS11Dec 13, 2022
HARS22Dec 13, 2022
HAVCR21Dec 13, 2022
HAX17Dec 13, 2022
HBA17Dec 13, 2022
HBA28Dec 13, 2022
HBB50Dec 13, 2022
HCFC17Dec 13, 2022
HCN12Dec 13, 2022
HCN474Dec 13, 2022
HDAC45Dec 13, 2022
HDAC61Dec 13, 2022
HDAC82Dec 13, 2022
HECW25Dec 13, 2022
HELLS1Dec 13, 2022
HEPACAM7Dec 13, 2022
HERC15Dec 13, 2022
HERC25Dec 13, 2022
HESX12Dec 13, 2022
HEXA23Dec 13, 2022
HEXB17Dec 13, 2022
HFE10Dec 13, 2022
HFE-AS13Dec 13, 2022
HGD36Dec 13, 2022
HGSNAT24Dec 13, 2022
HHAT1Dec 13, 2022
HIBCH1Dec 13, 2022
HIGD2B1Dec 13, 2022
HIVEP26Dec 13, 2022
HJV3Dec 13, 2022
HK14Dec 13, 2022
HLCS10Dec 13, 2022
HMBS3Dec 13, 2022
HMCN17Dec 13, 2022
HMGA21Dec 13, 2022
HMGCL9Dec 13, 2022
HMGCS21Dec 13, 2022
HMOX11Dec 13, 2022
HNF1A61Dec 13, 2022
HNF1B35Dec 13, 2022
HNF4A42Dec 13, 2022
HNRNPA11Dec 13, 2022
HNRNPDL2Dec 13, 2022
HNRNPK1Nov 14, 2018
HNRNPU10Dec 13, 2022
HNRNPU-AS111Dec 13, 2022
HNRNPUL2-BSCL243Dec 13, 2022
HOGA134Dec 13, 2022
HOXA1310Dec 13, 2022
HOXB11Dec 13, 2022
HOXB137Dec 13, 2022
HOXD135Dec 13, 2022
HPD5Dec 13, 2022
HPGD4Dec 13, 2022
HPRT17Dec 13, 2022
HPS180Dec 13, 2022
HPS311Dec 13, 2022
HPS44Dec 13, 2022
HPS515Dec 13, 2022
HPS67Dec 13, 2022
HPSE214Dec 13, 2022
HRAS15Dec 13, 2022
HS2ST11Dec 13, 2022
HS6ST21Dec 13, 2022
HSD11B29Dec 13, 2022
HSD17B101Dec 13, 2022
HSD17B33Dec 13, 2022
HSD17B3-AS13Dec 13, 2022
HSD17B411Dec 13, 2022
HSD3B218Dec 13, 2022
HSD3B72Dec 13, 2022
HSERVPRODH1Dec 13, 2022
HSPA91Dec 13, 2022
HSPB12Dec 13, 2022
HSPB83Dec 13, 2022
HSPD12Dec 13, 2022
HSPG230Dec 13, 2022
HTRA11Dec 13, 2022
HTRA24Dec 13, 2022
HTT3Dec 13, 2022
HUWE18Dec 13, 2022
HYCC12Dec 13, 2022
HYLS13Dec 13, 2022
HYOU13Dec 13, 2022
IAH13Dec 13, 2022
IARS11Dec 13, 2022
IARS22Dec 13, 2022
IBA571Dec 13, 2022
IDH23Dec 13, 2022
IDH3B2Dec 13, 2022
IDS4Dec 13, 2022
IDUA83Dec 13, 2022
IFIH121Dec 13, 2022
IFITM51Nov 14, 2018
IFNGR12Dec 13, 2022
IFT12285Dec 13, 2022
IFT140255Dec 13, 2022
IFT172204Dec 13, 2022
IFT4337Dec 13, 2022
IFT802Nov 14, 2018
IGF1R6Dec 13, 2022
IGF21Dec 13, 2022
IGHMBP28Dec 13, 2022
IGLL13Dec 13, 2022
IGSF11Dec 13, 2022
IHH1Dec 13, 2022
IKBKG2Dec 13, 2022
IL10RA4Dec 13, 2022
IL10RB2Dec 13, 2022
IL12RB13Dec 13, 2022
IL17RA3Dec 13, 2022
IL17RC2Dec 13, 2022
IL18BP2Dec 13, 2022
IL1RN3Dec 13, 2022
IL21R2Dec 13, 2022
IL21R-AS11Dec 13, 2022
IL23R2Dec 13, 2022
IL2RA3Dec 13, 2022
IL2RG2Dec 13, 2022
IL36RN4Dec 13, 2022
IL7R7Dec 13, 2022
ILDR15Dec 13, 2022
IMPDH13Dec 13, 2022
IMPG23Dec 13, 2022
INCA12Dec 13, 2022
INF2157Dec 13, 2022
INPP5E4Dec 13, 2022
INPPL11Dec 13, 2022
INS10Dec 13, 2022
INS-IGF28Dec 13, 2022
INSL31Dec 13, 2022
INSL64Dec 13, 2022
INSR17Dec 13, 2022
INTU2Dec 13, 2022
INVS92Dec 13, 2022
IQCB161Dec 13, 2022
IQCG5Dec 13, 2022
IQSEC12Dec 13, 2022
IQSEC26Dec 13, 2022
IRAIN1Dec 13, 2022
IRAK41Dec 13, 2022
IRF2BPL4Dec 13, 2022
IRF31Dec 13, 2022
IRF61Nov 14, 2018
IRF77Dec 13, 2022
IRF83Dec 13, 2022
IRS11Dec 13, 2022
ISCU3Dec 13, 2022
ITGA2B2Dec 13, 2022
ITGA335Dec 13, 2022
ITGA622Dec 13, 2022
ITGA6-AS112Dec 13, 2022
ITGA79Dec 13, 2022
ITGA83Dec 13, 2022
ITGB29Dec 13, 2022
ITGB31Dec 13, 2022
ITGB462Dec 13, 2022
ITK1Dec 13, 2022
ITM2B1Dec 13, 2022
ITPA2Dec 13, 2022
ITPR113Dec 13, 2022
ITPR21Dec 13, 2022
IVD11Dec 13, 2022
IYD4Dec 13, 2022
JAG1112Dec 13, 2022
JAK12Dec 13, 2022
JAK24Dec 13, 2022
JAK37Dec 13, 2022
JAM31Dec 13, 2022
JMJD81Dec 13, 2022
JPH247Dec 13, 2022
JPH31Dec 13, 2022
JUP100Dec 13, 2022
KAAG13Dec 13, 2022
KANK188Dec 13, 2022
KANK27Dec 13, 2022
KANSL172Dec 13, 2022
KARS12Dec 13, 2022
KAT51Dec 13, 2022
KAT6A4Dec 13, 2022
KAT6B80Dec 13, 2022
KATNIP2Dec 13, 2022
KBTBD133Dec 13, 2022
KCNA117Dec 13, 2022
KCNA23Dec 13, 2022
KCNA544Dec 13, 2022
KCNB16Dec 13, 2022
KCNC12Dec 13, 2022
KCNC37Dec 13, 2022
KCND316Dec 13, 2022
KCNE138Dec 13, 2022
KCNE215Dec 13, 2022
KCNE312Dec 13, 2022
KCNH15Dec 13, 2022
KCNH2133Dec 13, 2022
KCNH51Nov 14, 2018
KCNJ119Dec 13, 2022
KCNJ1034Dec 13, 2022
KCNJ1130Dec 13, 2022
KCNJ181Dec 13, 2022
KCNJ235Dec 13, 2022
KCNJ544Dec 13, 2022
KCNK321Dec 13, 2022
KCNK91Dec 13, 2022
KCNMA17Dec 13, 2022
KCNN31Dec 13, 2022
KCNN41Dec 13, 2022
KCNQ184Dec 13, 2022
KCNQ1-AS19Dec 13, 2022
KCNQ1OT14Dec 13, 2022
KCNQ216Dec 13, 2022
KCNQ316Dec 13, 2022
KCNQ43Dec 13, 2022
KCNQ51Dec 13, 2022
KCNT116Dec 13, 2022
KCNV24Dec 13, 2022
KCTD12Dec 13, 2022
KCTD171Nov 14, 2018
KCTD71Nov 14, 2018
KDM1A1Dec 13, 2022
KDM3B1Jul 27, 2020
KDM5B2Dec 13, 2022
KDM5C4Dec 13, 2022
KDM6A7Dec 13, 2022
KDM6B1Dec 13, 2022
KIAA05863Dec 13, 2022
KIAA07533Dec 13, 2022
KIAA154911Dec 13, 2022
KIDINS2204Dec 13, 2022
KIF115Dec 13, 2022
KIF142Dec 13, 2022
KIF1A24Dec 13, 2022
KIF1B4Dec 13, 2022
KIF1C3Dec 13, 2022
KIF21A3Dec 13, 2022
KIF224Dec 13, 2022
KIF2A1Dec 13, 2022
KIF4A1Dec 13, 2022
KIF5A4Dec 13, 2022
KIF720Dec 13, 2022
KIFBP3Dec 13, 2022
KIRREL26Dec 13, 2022
KIRREL32Nov 14, 2018
KISS1R2Dec 13, 2022
KIT15Dec 13, 2022
KITLG1Dec 13, 2022
KIZ5Dec 13, 2022
KL38Dec 13, 2022
KLC31Dec 13, 2022
KLF12Dec 13, 2022
KLF1123Dec 13, 2022
KLHL101Dec 13, 2022
KLHL313Dec 13, 2022
KLHL401Dec 13, 2022
KLHL412Dec 13, 2022
KLKB13Dec 13, 2022
KLLN8Dec 13, 2022
KMT2A18Dec 13, 2022
KMT2B4Dec 13, 2022
KMT2C14Dec 13, 2022
KMT2D50Dec 13, 2022
KMT5B1Dec 13, 2022
KNL13Dec 13, 2022
KPNA71Nov 14, 2018
KPTN1Dec 13, 2022
KRAS10Dec 13, 2022
KREMEN12Dec 13, 2022
KRIT11Dec 13, 2022
KRT11Dec 13, 2022
KRT105Dec 13, 2022
KRT10-AS13Dec 13, 2022
KRT146Dec 13, 2022
KRT167Dec 13, 2022
KRT174Dec 13, 2022
KRT21Dec 13, 2022
KRT53Dec 13, 2022
KRT6A6Dec 13, 2022
KRT6B4Dec 13, 2022
KRT6C1Dec 13, 2022
KRT814Dec 13, 2022
KRT831Dec 13, 2022
KRT864Dec 13, 2022
KRT93Dec 13, 2022
KRTCAP323Dec 13, 2022
L1CAM5Dec 13, 2022
L2HGDH5Dec 13, 2022
LAGE31Dec 13, 2022
LAMA18Dec 13, 2022
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PRKD12Dec 13, 2022
PRKDC9Dec 13, 2022
PRKG17Dec 13, 2022
PRKN39Dec 13, 2022
PRKRA8Dec 13, 2022
PRMT71Nov 14, 2018
PRNP10Dec 13, 2022
PROC27Dec 13, 2022
PRODH43Dec 13, 2022
PROK21Dec 13, 2022
PROKR218Dec 13, 2022
PROM110Dec 13, 2022
PROP19Dec 13, 2022
PROS124Dec 13, 2022
PRPF31Dec 13, 2022
PRPF314Dec 13, 2022
PRPF31-AS12Dec 13, 2022
PRPF61Dec 13, 2022
PRPF811Dec 13, 2022
PRPH1Dec 13, 2022
PRPH21Dec 13, 2022
PRPS18Dec 13, 2022
PRRT28Dec 13, 2022
PRSS15Dec 13, 2022
PRSS124Dec 13, 2022
PRSS231Nov 14, 2018
PRSS561Dec 13, 2022
PRX6Dec 13, 2022
PSAP6Dec 13, 2022
PSEN16Dec 13, 2022
PSEN212Dec 13, 2022
PSMB81Nov 14, 2018
PSORS1C11Dec 13, 2022
PSTPIP14Dec 13, 2022
PTCH154Dec 13, 2022
PTCH211Dec 13, 2022
PTCHD11Dec 13, 2022
PTCHD1-AS6Dec 13, 2022
PTEN42Dec 13, 2022
PTF1A4Dec 13, 2022
PTH1R33Dec 13, 2022
PTPN1180Dec 13, 2022
PTPRC7Dec 13, 2022
PTPRJ1Dec 13, 2022
PTPRO12Dec 13, 2022
PTPRQ4Dec 13, 2022
PTS5Dec 13, 2022
PUF602Dec 13, 2022
PURA2Dec 13, 2022
PUS13Dec 13, 2022
PUS101Nov 14, 2018
PUS33Dec 13, 2022
PYCR14Dec 13, 2022
PYCR23Dec 13, 2022
PYGL8Dec 13, 2022
PYGM28Dec 13, 2022
PYY1Dec 13, 2022
QARS16Dec 13, 2022
QDPR4Dec 13, 2022
R3HDML-AS11Dec 13, 2022
RAB11B1Dec 13, 2022
RAB181Dec 13, 2022
RAB233Dec 13, 2022
RAB27A4Dec 13, 2022
RAB33A7Dec 13, 2022
RAB3GAP13Dec 13, 2022
RAB3GAP22Nov 14, 2018
RAB9B2Dec 13, 2022
RAC11Dec 13, 2022
RAC31Dec 13, 2022
RAD215Dec 13, 2022
RAD5052Dec 13, 2022
RAD51C77Dec 13, 2022
RAD51D18Dec 13, 2022
RAD51L3-RFFL18Dec 13, 2022
RAF121Dec 13, 2022
RAG114Dec 13, 2022
RAG27Dec 13, 2022
RAI118Dec 13, 2022
RANBP216Dec 13, 2022
RANGRF1Nov 14, 2018
RAPSN19Dec 13, 2022
RARB2Dec 13, 2022
RARS12Dec 13, 2022
RARS220Dec 13, 2022
RASA111Dec 13, 2022
RASGRP14Dec 13, 2022
RAX2Dec 13, 2022
RB111Dec 13, 2022
RBBP86Dec 13, 2022
RBCK13Dec 13, 2022
RBFOX13Nov 14, 2018
RBFOX32Nov 14, 2018
RBM20115Dec 13, 2022
RBM8A5Dec 13, 2022
RBP34Dec 13, 2022
RD31Dec 13, 2022
RDH1210Dec 13, 2022
RDH51Dec 13, 2022
RDX3Dec 13, 2022
RECQL478Dec 13, 2022
RELA2Dec 13, 2022
RELB1Dec 13, 2022
RELN78Dec 13, 2022
REN10Dec 13, 2022
REPS11Dec 13, 2022
RERE8Dec 13, 2022
REST1Dec 13, 2022
RET196Dec 13, 2022
RETREG12Dec 13, 2022
RFT13Dec 13, 2022
RFX53Dec 13, 2022
RFX63Dec 13, 2022
RFXANK1Dec 13, 2022
RGR1Dec 13, 2022
RGS92Dec 13, 2022
RGS9BP1Dec 13, 2022
RHAG1Dec 13, 2022
RHBDF23Dec 13, 2022
RHO2Dec 13, 2022
RHOBTB21Dec 13, 2022
RHOH1Dec 13, 2022
RIC31Dec 13, 2022
RIF123Dec 13, 2022
RIGI4Dec 13, 2022
RIMS22Dec 13, 2022
RIN27Dec 13, 2022
RIPK13Dec 13, 2022
RIPK41Dec 13, 2022
RIPOR23Dec 13, 2022
RIT110Dec 13, 2022
RLBP12Dec 13, 2022
RMND123Dec 13, 2022
RMND5B2Dec 13, 2022
RMRP49Dec 13, 2022
RNASEH2A8Dec 13, 2022
RNASEH2B10Dec 13, 2022
RNASEH2B-AS11Dec 13, 2022
RNASEH2C7Dec 13, 2022
RNF1252Dec 13, 2022
RNF1682Dec 13, 2022
RNF171Nov 14, 2018
RNF2138Dec 13, 2022
RNF213-AS16Dec 13, 2022
RNF2161Dec 13, 2022
RNF432Dec 13, 2022
RNU4ATAC8Dec 13, 2022
ROBO223Dec 13, 2022
ROBO32Dec 13, 2022
ROBO41Dec 13, 2022
ROGDI2Dec 13, 2022
ROR11Dec 13, 2022
ROR275Dec 13, 2022
RORA1Dec 13, 2022
RORA-AS11Dec 13, 2022
RORC2Dec 13, 2022
RP18Dec 13, 2022
RP1L115Dec 13, 2022
RP24Dec 13, 2022
RP91Dec 13, 2022
RPE6518Dec 13, 2022
RPGR10Dec 13, 2022
RPGRIP16Dec 13, 2022
RPGRIP1L160Dec 13, 2022
RPL117Dec 13, 2022
RPL151Dec 13, 2022
RPL266Dec 13, 2022
RPL35A5Dec 13, 2022
RPL36A-HNRNPH250Dec 13, 2022
RPL528Dec 13, 2022
RPL61Dec 13, 2022
RPS109Dec 13, 2022
RPS10-NUDT39Dec 13, 2022
RPS172Dec 13, 2022
RPS1914Dec 13, 2022
RPS249Dec 13, 2022
RPS2615Dec 13, 2022
RPS291Dec 13, 2022
RPS6KA32Dec 13, 2022
RPS79Dec 13, 2022
RRM2B21Dec 13, 2022
RRP82Dec 13, 2022
RS15Dec 13, 2022
RSPH14Dec 13, 2022
RSPH32Dec 13, 2022
RSPH4A7Dec 13, 2022
RSPH92Dec 13, 2022
RSPO11Dec 13, 2022
RTEL133Dec 13, 2022
RTEL1-TNFRSF6B33Dec 13, 2022
RTN21Dec 13, 2022
RTN4IP11Dec 13, 2022
RTTN6Dec 13, 2022
RUNX112Dec 13, 2022
RUNX25Dec 13, 2022
RUSC21Dec 13, 2022
RUSF12Dec 13, 2022
RUVBL11Dec 13, 2022
RXYLT12Dec 13, 2022
RXYLT1-AS11Dec 13, 2022
RYR1516Dec 13, 2022
RYR2204Dec 13, 2022
RYR33Nov 14, 2018
SACS42Dec 13, 2022
SAG4Dec 13, 2022
SALL148Dec 13, 2022
SALL434Dec 13, 2022
SAMD97Dec 13, 2022
SAMD9L7Dec 13, 2022
SAMHD17Dec 13, 2022
SAR1B1Dec 13, 2022
SARDH2Dec 13, 2022
SARM12Dec 13, 2022
SARS12Dec 13, 2022
SARS225Dec 13, 2022
SASH13Dec 13, 2022
SATB27Dec 13, 2022
SBDS4Dec 13, 2022
SBF17Dec 13, 2022
SBF27Dec 13, 2022
SBF2-AS11Dec 13, 2022
SCAPER1Dec 13, 2022
SCARB254Dec 13, 2022
SCN10A82Dec 13, 2022
SCN11A4Dec 13, 2022
SCN1A37Dec 13, 2022
SCN1A-AS121Dec 13, 2022
SCN1B26Dec 13, 2022
SCN2A22Dec 13, 2022
SCN2B13Dec 13, 2022
SCN3A12Dec 13, 2022
SCN3B13Dec 13, 2022
SCN4A214Dec 13, 2022
SCN4B17Dec 13, 2022
SCN5A195Dec 13, 2022
SCN8A12Dec 13, 2022
SCN9A28Dec 13, 2022
SCNN1A21Dec 13, 2022
SCNN1B20Dec 13, 2022
SCNN1G11Dec 13, 2022
SCO119Dec 13, 2022
SCO28Dec 13, 2022
SCP21Dec 13, 2022
SCYL11Dec 13, 2022
SDCCAG874Dec 13, 2022
SDHA69Dec 13, 2022
SDHAF25Dec 13, 2022
SDHB16Dec 13, 2022
SDHC7Dec 13, 2022
SDHD9Dec 13, 2022
SEC23B5Dec 13, 2022
SEC24D3Dec 13, 2022
SEC61A11Dec 13, 2022
SEC6327Dec 13, 2022
SELENON10Dec 13, 2022
SEMA3A2Dec 13, 2022
SEMA3E54Dec 13, 2022
SEMA4A3Dec 13, 2022
SEMA6B1Dec 13, 2022
SEPSECS9Dec 13, 2022
SEPT5-GP1BB2Dec 13, 2022
SEPTIN92Dec 13, 2022
SERAC18Dec 13, 2022
SERPINA117Dec 13, 2022
SERPINB62Dec 13, 2022
SERPINB72Dec 13, 2022
SERPINC116Dec 13, 2022
SERPING12Dec 13, 2022
SERPINH11Nov 14, 2018
SERPINI11Dec 13, 2022
SETBP18Dec 13, 2022
SETD1A1Dec 13, 2022
SETD27Dec 13, 2022
SETD55Dec 13, 2022
SETX13Dec 13, 2022
SF3B11Dec 13, 2022
SF3B41Dec 13, 2022
SFTPA11Dec 13, 2022
SGCA11Dec 13, 2022
SGCB10Dec 13, 2022
SGCD80Dec 13, 2022
SGCE1Dec 13, 2022
SGCG16Dec 13, 2022
SGMS22Dec 13, 2022
SGO11Dec 13, 2022
SGO1-AS11Dec 13, 2022
SGPL11Dec 13, 2022
SGSH31Dec 13, 2022
SH2B32Dec 13, 2022
SH2D1A2Dec 13, 2022
SH3BP210Dec 13, 2022
SH3KBP11Dec 13, 2022
SH3PXD2B3Dec 13, 2022
SH3TC219Dec 13, 2022
SHANK22Dec 13, 2022
SHANK34Dec 13, 2022
SHH3Dec 13, 2022
SHOC210Dec 13, 2022
SHOX2Dec 13, 2022
SHPK1Dec 13, 2022
SHROOM41Dec 13, 2022
SI133Dec 13, 2022
SIGMAR11Dec 13, 2022
SIK110Dec 13, 2022
SIK31Dec 13, 2022
SIL12Dec 13, 2022
SIN3A2Dec 13, 2022
SIX16Dec 13, 2022
SIX33Dec 13, 2022
SIX527Dec 13, 2022
SIX61Nov 14, 2018
SKI13Dec 13, 2022
SKIC25Dec 13, 2022
SKIC38Dec 13, 2022
SLA1Dec 13, 2022
SLC10A13Dec 13, 2022
SLC10A24Dec 13, 2022
SLC12A152Dec 13, 2022
SLC12A231Dec 13, 2022
SLC12A3127Dec 13, 2022
SLC12A42Dec 13, 2022
SLC12A56Dec 13, 2022
SLC12A5-AS11Dec 13, 2022
SLC12A68Dec 13, 2022
SLC13A55Dec 13, 2022
SLC16A12Dec 13, 2022
SLC16A126Dec 13, 2022
SLC16A12-AS11Dec 13, 2022
SLC16A23Dec 13, 2022
SLC17A59Dec 13, 2022
SLC17A86Dec 13, 2022
SLC19A114Dec 13, 2022
SLC19A23Dec 13, 2022
SLC19A36Dec 13, 2022
SLC1A35Dec 13, 2022
SLC20A23Dec 13, 2022
SLC22A1226Dec 13, 2022
SLC22A561Dec 13, 2022
SLC24A11Dec 13, 2022
SLC25A121Nov 14, 2018
SLC25A1311Dec 13, 2022
SLC25A157Dec 13, 2022
SLC25A192Nov 14, 2018
SLC25A205Dec 13, 2022
SLC25A223Dec 13, 2022
SLC25A241Nov 14, 2018
SLC25A321Dec 13, 2022
SLC25A351Nov 14, 2018
SLC25A417Dec 13, 2022
SLC26A166Dec 13, 2022
SLC26A211Dec 13, 2022
SLC26A33Dec 13, 2022
SLC26A463Dec 13, 2022
SLC26A4-AS14Dec 13, 2022
SLC26A54Dec 13, 2022
SLC26A5-AS115Dec 13, 2022
SLC29A35Dec 13, 2022
SLC2A111Dec 13, 2022
SLC2A109Dec 13, 2022
SLC2A219Dec 13, 2022
SLC2A927Dec 13, 2022
SLC2A9-AS14Dec 13, 2022
SLC33A12Dec 13, 2022
SLC34A143Dec 13, 2022
SLC34A397Dec 13, 2022
SLC35A23Dec 13, 2022
SLC35A32Dec 13, 2022
SLC35C16Dec 13, 2022
SLC36A210Dec 13, 2022
SLC37A459Dec 13, 2022
SLC38A82Dec 13, 2022
SLC39A134Dec 13, 2022
SLC39A141Dec 13, 2022
SLC39A411Dec 13, 2022
SLC3A146Dec 13, 2022
SLC40A14Dec 13, 2022
SLC41A12Dec 13, 2022
SLC45A11Dec 13, 2022
SLC45A29Dec 13, 2022
SLC46A16Dec 13, 2022
SLC4A148Dec 13, 2022
SLC4A1110Dec 13, 2022
SLC4A417Dec 13, 2022
SLC52A25Dec 13, 2022
SLC52A39Dec 13, 2022
SLC5A136Dec 13, 2022
SLC5A220Dec 13, 2022
SLC5A52Dec 13, 2022
SLC5A61Dec 13, 2022
SLC5A73Dec 13, 2022
SLC6A17Dec 13, 2022
SLC6A1-AS11Nov 14, 2018
SLC6A1959Dec 13, 2022
SLC6A2019Dec 13, 2022
SLC6A312Dec 13, 2022
SLC6A52Dec 13, 2022
SLC6A85Dec 13, 2022
SLC7A144Dec 13, 2022
SLC7A14-AS13Dec 13, 2022
SLC7A763Dec 13, 2022
SLC7A935Dec 13, 2022
SLC9A11Dec 13, 2022
SLC9A62Dec 13, 2022
SLC9A91Dec 13, 2022
SLC9B14Dec 13, 2022
SLITRK64Dec 13, 2022
SLX4292Dec 13, 2022
SMAD21Dec 13, 2022
SMAD314Dec 13, 2022
SMAD425Dec 13, 2022
SMAD64Dec 13, 2022
SMAD914Dec 13, 2022
SMARCA29Dec 13, 2022
SMARCA446Dec 13, 2022
SMARCAL197Dec 13, 2022
SMARCB11Dec 13, 2022
SMARCC22Dec 13, 2022
SMARCD21Dec 13, 2022
SMARCE12Dec 13, 2022
SMC1A34Dec 13, 2022
SMC34Dec 13, 2022
SMCHD14Dec 13, 2022
SMG91Dec 13, 2022
SMN11Dec 13, 2022
SMO1Dec 13, 2022
SMOC11Dec 13, 2022
SMPD126Dec 13, 2022
SMS3Dec 13, 2022
SNAP293Dec 13, 2022
SNCA9Dec 13, 2022
SNHG143Dec 13, 2022
SNHG222Dec 13, 2022
SNHG312Dec 13, 2022
SNIP11Dec 13, 2022
SNRNP2006Dec 13, 2022
SNTA145Dec 13, 2022
SNX101Dec 13, 2022
SNX141Dec 13, 2022
SOBP3Dec 13, 2022
SOD13Dec 13, 2022
SON3Dec 13, 2022
SOS190Dec 13, 2022
SOS212Dec 13, 2022
SOX105Dec 13, 2022
SOX175Dec 13, 2022
SOX183Dec 13, 2022
SOX32Dec 13, 2022
SOX91Dec 13, 2022
SP1102Dec 13, 2022
SP73Dec 13, 2022
SPAG113Dec 13, 2022
SPARC1Dec 13, 2022
SPART1Nov 14, 2018
SPAST7Dec 13, 2022
SPATA2211Dec 13, 2022
SPATA511Dec 13, 2022
SPATA73Dec 13, 2022
SPECC1L4Dec 13, 2022
SPECC1L-ADORA2A4Dec 13, 2022
SPEF22Dec 13, 2022
SPEG4Dec 13, 2022
SPEN1Dec 13, 2022
SPG1129Dec 13, 2022
SPG721Dec 13, 2022
SPINK13Dec 13, 2022
SPINK55Dec 13, 2022
SPNS21Dec 13, 2022
SPR4Dec 13, 2022
SPRED11Dec 13, 2022
SPTA17Dec 13, 2022
SPTAN121Dec 13, 2022
SPTB3Dec 13, 2022
SPTBN26Dec 13, 2022
SPTLC16Dec 13, 2022
SPTLC24Dec 13, 2022
SQSTM12Dec 13, 2022
SRCAP108Dec 13, 2022
SRD5A24Dec 13, 2022
SRD5A33Dec 13, 2022
SRD5A3-AS12Dec 13, 2022
SRFBP13Dec 13, 2022
SRGAP11Dec 13, 2022
SRP542Dec 13, 2022
SRP723Dec 13, 2022
SRPX23Dec 13, 2022
SSUH24Dec 13, 2022
ST3GAL34Dec 13, 2022
ST3GAL42Nov 14, 2018
ST3GAL54Dec 13, 2022
STAC31Nov 14, 2018
STAG11Dec 13, 2022
STAG22Dec 13, 2022
STAR26Dec 13, 2022
STAT11Dec 13, 2022
STAT21Dec 13, 2022
STAT31Dec 13, 2022
STAT5B4Dec 13, 2022
STIL10Dec 13, 2022
STIM15Dec 13, 2022
STING13Dec 13, 2022
STK1117Dec 13, 2022
STK362Dec 13, 2022
STN12Dec 13, 2022
STON1-GTF2A1L4Dec 13, 2022
STRA62Dec 13, 2022
STRC4Dec 13, 2022
STS2Dec 13, 2022
STT3A1Dec 13, 2022
STT3B1Dec 13, 2022
STUB11Dec 13, 2022
STX115Dec 13, 2022
STX165Dec 13, 2022
STX16-NPEPL15Dec 13, 2022
STX1B3Dec 13, 2022
STXBP18Dec 13, 2022
STXBP27Dec 13, 2022
SUCLA21Dec 13, 2022
SUCLG13Dec 13, 2022
SUFU9Dec 13, 2022
SUGCT1Nov 14, 2018
SULF11Nov 14, 2018
SUMF18Dec 13, 2022
SUOX4Dec 13, 2022
SURF111Dec 13, 2022
SUZ122Dec 13, 2022
SVIL2Dec 13, 2022
SVIL-AS11Dec 13, 2022
SYCE22Dec 13, 2022
SYN12Dec 13, 2022
SYN31Dec 13, 2022
SYNE145Dec 13, 2022
SYNE216Dec 13, 2022
SYNE41Dec 13, 2022
SYNGAP114Dec 13, 2022
SYNGAP1-AS17Dec 13, 2022
SYNJ12Dec 13, 2022
SZT224Dec 13, 2022
SZT2-AS12Dec 13, 2022
TAB23Dec 13, 2022
TACO110Dec 13, 2022
TACR34Dec 13, 2022
TACSTD21Dec 13, 2022
TAF16Dec 13, 2022
TAF22Dec 13, 2022
TAGAP-AS11Dec 13, 2022
TANGO21Dec 13, 2022
TAP15Dec 13, 2022
TAP25Dec 13, 2022
TAPBP2Dec 13, 2022
TARID15Dec 13, 2022
TARS11Dec 13, 2022
TARS21Dec 13, 2022
TAT3Dec 13, 2022
TAT-AS13Dec 13, 2022
TATDN12Dec 13, 2022
TBC1D2413Dec 13, 2022
TBCD2Dec 13, 2022
TBCE3Dec 13, 2022
TBCEL-TECTA10Dec 13, 2022
TBCK3Dec 13, 2022
TBK14Dec 13, 2022
TBL1XR11Dec 13, 2022
TBL1Y1Dec 13, 2022
TBR11Dec 13, 2022
TBX19Dec 13, 2022
TBX181Dec 13, 2022
TBX21Dec 13, 2022
TBX2016Dec 13, 2022
TBX222Dec 13, 2022
TBX31Dec 13, 2022
TBX519Dec 13, 2022
TBX62Dec 13, 2022
TBXAS12Dec 13, 2022
TCAP26Dec 13, 2022
TCEA23Dec 13, 2022
TCF121Dec 13, 2022
TCF38Dec 13, 2022
TCF43Dec 13, 2022
TCIRG138Dec 13, 2022
TCN21Dec 13, 2022
TCOF14Dec 13, 2022
TCTN14Dec 13, 2022
TCTN24Dec 13, 2022
TCTN34Dec 13, 2022
TDP11Dec 13, 2022
TECPR211Dec 13, 2022
TECR1Dec 13, 2022
TECTA10Dec 13, 2022
TELO22Dec 13, 2022
TERC4Dec 13, 2022
TERT28Dec 13, 2022
TET34Dec 13, 2022
TF3Dec 13, 2022
TFAP2A15Dec 13, 2022
TFAP2A-AS11Dec 13, 2022
TFAP2A-AS25Dec 13, 2022
TFG2Dec 13, 2022
TFR212Dec 13, 2022
TG20Dec 13, 2022
TGDS1Nov 14, 2018
TGFB13Dec 13, 2022
TGFB235Dec 13, 2022
TGFB2-AS11Dec 13, 2022
TGFB2-OT11Dec 13, 2022
TGFB329Dec 13, 2022
TGFBR119Dec 13, 2022
TGFBR240Dec 13, 2022
TGIF11Dec 13, 2022
TGM120Dec 13, 2022
TGM61Dec 13, 2022
TH34Dec 13, 2022
TH2-LCR3Dec 13, 2022
TH2LCRR6Dec 13, 2022
THAP12Dec 13, 2022
THBD24Dec 13, 2022
THOC22Dec 13, 2022
THRB3Dec 13, 2022
TICAM13Dec 13, 2022
TIGD13Dec 13, 2022
TIMM503Dec 13, 2022
TIMP31Dec 13, 2022
TINF210Dec 13, 2022
TIRAP1Dec 13, 2022
TJP211Dec 13, 2022
TK24Dec 13, 2022
TLR21Dec 13, 2022
TLR33Dec 13, 2022
TMC13Dec 13, 2022
TMC63Dec 13, 2022
TMC82Dec 13, 2022
TMCO12Dec 13, 2022
TMEM1276Dec 13, 2022
TMEM132E2Dec 13, 2022
TMEM1991Dec 13, 2022
TMEM2166Dec 13, 2022
TMEM2181Dec 13, 2022
TMEM2314Dec 13, 2022
TMEM2371Dec 13, 2022
TMEM38B1Dec 13, 2022
TMEM4354Dec 13, 2022
TMEM6783Dec 13, 2022
TMEM7011Dec 13, 2022
TMPRSS313Dec 13, 2022
TMPRSS62Dec 13, 2022
TNC3Dec 13, 2022
TNFAIP33Dec 13, 2022
TNFRSF11A2Dec 13, 2022
TNFRSF11B1Dec 13, 2022
TNFRSF13B6Dec 13, 2022
TNFRSF1A1Dec 13, 2022
TNFRSF42Dec 13, 2022
TNFSF111Dec 13, 2022
TNIK1Dec 13, 2022
TNNC19Dec 13, 2022
TNNI21Dec 13, 2022
TNNI322Dec 13, 2022
TNNI3K2Dec 13, 2022
TNNT11Dec 13, 2022
TNNT233Dec 13, 2022
TNXB49Dec 13, 2022
TOE13Dec 13, 2022
TOMT1Dec 13, 2022
TOP2B1Dec 13, 2022
TOP3A3Dec 13, 2022
TOPORS4Dec 13, 2022
TOR1A3Dec 13, 2022
TOR1AIP12Dec 13, 2022
TP5328Dec 13, 2022
TP53BP11Dec 13, 2022
TP53RK5Dec 13, 2022
TP6332Dec 13, 2022
TPH22Dec 13, 2022
TPK14Dec 13, 2022
TPM122Dec 13, 2022
TPM22Dec 13, 2022
TPM31Dec 13, 2022
TPO10Dec 13, 2022
TPP133Dec 13, 2022
TPP26Dec 13, 2022
TPRKB1Dec 13, 2022
TPRN3Dec 13, 2022
TRAF32Dec 13, 2022
TRAF3IP11Dec 13, 2022
TRAIP2Dec 13, 2022
TRAK12Dec 13, 2022
TRAPPC112Dec 13, 2022
TRAPPC121Dec 13, 2022
TRAPPC914Dec 13, 2022
TRB5Dec 13, 2022
TRDN58Dec 13, 2022
TRDN-AS11Dec 13, 2022
TREM27Dec 13, 2022
TREX19Dec 13, 2022
TRIM3285Dec 13, 2022
TRIM371Dec 13, 2022
TRIM59-IFT802Nov 14, 2018
TRIO5Dec 13, 2022
TRIOBP18Dec 13, 2022
TRIP115Dec 13, 2022
TRIP121Dec 13, 2022
TRIP41Dec 13, 2022
TRMT11Dec 13, 2022
TRMT10A1Nov 14, 2018
TRMT51Dec 13, 2022
TRMU13Dec 13, 2022
TRNT19Dec 13, 2022
TROAP-AS11Dec 13, 2022
TRPC627Dec 13, 2022
TRPM15Dec 13, 2022
TRPM483Dec 13, 2022
TRPM643Dec 13, 2022
TRPM71Dec 13, 2022
TRPS12Dec 13, 2022
TRPV32Dec 13, 2022
TRPV411Dec 13, 2022
TRPV61Dec 13, 2022
TRRAP2Dec 13, 2022
TSC190Dec 13, 2022
TSC2295Dec 13, 2022
TSEN25Dec 13, 2022
TSEN342Dec 13, 2022
TSEN5410Dec 13, 2022
TSFM3Dec 13, 2022
TSHB2Dec 13, 2022
TSHR5Dec 13, 2022
TSPAN116Dec 13, 2022
TSPAN312Dec 13, 2022
TSPAN71Dec 13, 2022
TSPEAR4Dec 13, 2022
TSPEAR-AS11Dec 13, 2022
TSR21Dec 13, 2022
TTBK22Dec 13, 2022
TTC147Dec 13, 2022
TTC192Dec 13, 2022
TTC21B131Dec 13, 2022
TTC21B-AS117Dec 13, 2022
TTC7A4Dec 13, 2022
TTC833Dec 13, 2022
TTN1285Dec 13, 2022
TTN-AS1717Dec 13, 2022
TTPA7Dec 13, 2022
TTR40Dec 13, 2022
TUB1Dec 13, 2022
TUBA1A4Dec 13, 2022
TUBA82Dec 13, 2022
TUBB12Dec 13, 2022
TUBB2A3Dec 13, 2022
TUBB2B3Dec 13, 2022
TUBB31Nov 14, 2018
TUBB4A2Dec 13, 2022
TUBB61Dec 13, 2022
TUBG11Dec 13, 2022
TUBGCP21Dec 13, 2022
TUBGCP42Dec 13, 2022
TUBGCP69Dec 13, 2022
TUFM1Dec 13, 2022
TULP11Dec 13, 2022
TUSC31Dec 13, 2022
TWIST12Dec 13, 2022
TWNK3Dec 13, 2022
TXN21Dec 13, 2022
TXNL4A3Dec 13, 2022
TXNRD222Dec 13, 2022
TYK22Dec 13, 2022
TYMP19Dec 13, 2022
TYR28Dec 13, 2022
TYROBP1Dec 13, 2022
TYRP110Dec 13, 2022
UBA13Dec 13, 2022
UBA51Dec 13, 2022
UBE3A3Dec 13, 2022
UBQLN21Dec 13, 2022
UBR12Dec 13, 2022
UCHL14Dec 13, 2022
UCP25Dec 13, 2022
UCP39Dec 13, 2022
UFM12Dec 13, 2022
UFSP21Dec 13, 2022
UGT1A10Dec 13, 2022
UGT1A110Dec 13, 2022
UGT1A1010Dec 13, 2022
UGT1A310Dec 13, 2022
UGT1A410Dec 13, 2022
UGT1A510Dec 13, 2022
UGT1A610Dec 13, 2022
UGT1A710Dec 13, 2022
UGT1A810Dec 13, 2022
UGT1A910Dec 13, 2022
UMOD43Dec 13, 2022
UNC1191Dec 13, 2022
UNC13D17Dec 13, 2022
UNC8017Dec 13, 2022
UNC93B12Dec 13, 2022
UNG2Dec 13, 2022
UPB16Dec 13, 2022
UPF3B2Dec 13, 2022
UQCC24Dec 13, 2022
UQCRC21Dec 13, 2022
UQCRQ1Nov 14, 2018
UROC14Dec 13, 2022
USB14Dec 13, 2022
USH1C20Dec 13, 2022
USH1G6Dec 13, 2022
USH2A166Dec 13, 2022
USH2A-AS19Dec 13, 2022
USH2A-AS28Dec 13, 2022
USP71Dec 13, 2022
USP81Dec 13, 2022
USP9X2Dec 13, 2022
VARS21Dec 13, 2022
VCAN4Dec 13, 2022
VCAN-AS12Dec 13, 2022
VCL101Dec 13, 2022
VCP1Dec 13, 2022
VDR19Dec 13, 2022
VHL49Dec 13, 2022
VIPAS391Nov 14, 2018
VLDLR5Dec 13, 2022
VPS111Dec 13, 2022
VPS13A25Dec 13, 2022
VPS13B72Dec 13, 2022
VPS13C1Dec 13, 2022
VPS13D1Dec 13, 2022
VPS33A2Dec 13, 2022
VPS33B2Dec 13, 2022
VPS357Dec 13, 2022
VPS453Dec 13, 2022
VPS534Dec 13, 2022
VRK17Dec 13, 2022
VRK217Dec 13, 2022
VSIR1Dec 13, 2022
VSX12Dec 13, 2022
VSX21Dec 13, 2022
VWA12Dec 13, 2022
VWF20Dec 13, 2022
WAS33Dec 13, 2022
WASHC54Dec 13, 2022
WDFY32Dec 13, 2022
WDPCP71Dec 13, 2022
WDR12Dec 13, 2022
WDR111Dec 13, 2022
WDR19114Dec 13, 2022
WDR261Dec 13, 2022
WDR354Dec 13, 2022
WDR363Dec 13, 2022
WDR41Dec 13, 2022
WDR452Dec 13, 2022
WDR45B1Dec 13, 2022
WDR6210Dec 13, 2022
WDR7212Dec 13, 2022
WDR7314Dec 13, 2022
WDR815Dec 13, 2022
WFS1233Dec 13, 2022
WHRN12Dec 13, 2022
WNK1176Dec 13, 2022
WNK431Dec 13, 2022
WNT11Dec 13, 2022
WNT10A13Dec 13, 2022
WNT45Dec 13, 2022
WNT5A16Dec 13, 2022
WRAP535Dec 13, 2022
WRN35Dec 13, 2022
WT160Dec 13, 2022
WWOX16Dec 13, 2022
XDH90Dec 13, 2022
XIAP1Nov 14, 2018
XK1Dec 13, 2022
XPA9Dec 13, 2022
XPC19Dec 13, 2022
XPNPEP315Dec 13, 2022
XPR12Dec 13, 2022
XRCC23Dec 13, 2022
XRCC416Dec 13, 2022
XYLT12Dec 13, 2022
YARS12Dec 13, 2022
YARS23Dec 13, 2022
YEATS21Dec 13, 2022
YWHAG1Dec 13, 2022
ZAP704Dec 13, 2022
ZBTB201Dec 13, 2022
ZBTB241Dec 13, 2022
ZC3H141Dec 13, 2022
ZC4H23Dec 13, 2022
ZCCHC81Dec 13, 2022
ZDHHC2460Dec 13, 2022
ZDHHC91Nov 14, 2018
ZEB12Dec 13, 2022
ZEB215Dec 13, 2022
ZFHX41Dec 13, 2022
ZFP571Dec 13, 2022
ZFPM22Dec 13, 2022
ZFPM2-AS11Dec 13, 2022
ZFYVE2621Dec 13, 2022
ZIC25Dec 13, 2022
ZIC31Dec 13, 2022
ZMPSTE246Dec 13, 2022
ZMYM21Dec 13, 2022
ZMYND104Dec 13, 2022
ZMYND111Dec 13, 2022
ZNF1421Dec 13, 2022
ZNF27637Dec 13, 2022
ZNF2921Dec 13, 2022
ZNF3351Dec 13, 2022
ZNF3414Dec 13, 2022
ZNF341-AS11Dec 13, 2022
ZNF4083Dec 13, 2022
ZNF4237Dec 13, 2022
ZNF4541Dec 13, 2022
ZNF4622Dec 13, 2022
ZNF46947Dec 13, 2022
ZNF5131Nov 14, 2018
ZNHIT31Dec 13, 2022
ZP31Dec 13, 2022
ZRANB31Dec 13, 2022
ZSWIM65Dec 13, 2022

Condition

NameSubmissionsLast Updated
11p partial monosomy syndrome64Dec 13, 2022
2-aminoadipic 2-oxoadipic aciduria2Dec 13, 2022
3 beta-Hydroxysteroid dehydrogenase deficiency18Dec 13, 2022
3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA6Dec 13, 2022
3-Methylglutaconic aciduria type 36Dec 13, 2022
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency4Dec 13, 2022
3-hydroxy-3-methylglutaryl-CoA synthase deficiency1Dec 13, 2022
3-methylcrotonyl-CoA carboxylase 1 deficiency24Dec 13, 2022
3-methylcrotonyl-CoA carboxylase 2 deficiency12Dec 13, 2022
3-methylglutaconic aciduria type 17Dec 13, 2022
3-methylglutaconic aciduria type 84Dec 13, 2022
3-methylglutaconic aciduria type 93Dec 13, 2022
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia6Dec 13, 2022
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome8Dec 13, 2022
3M syndrome 16Dec 13, 2022
3M syndrome 212Dec 13, 2022
3M syndrome 32Dec 13, 2022
3MC syndrome 14Dec 13, 2022
46,XX ovarian dysgenesis-short stature syndrome1Dec 13, 2022
46,XY sex reversal 214Dec 13, 2022
46,XY sex reversal 62Dec 13, 2022
46,XY sex reversal 92Dec 13, 2022
46,xx sex reversal 51Dec 13, 2022
4p partial monosomy syndrome6Dec 13, 2022
5-Oxoprolinase deficiency55Dec 13, 2022
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency5Dec 13, 2022
8q24.3 microdeletion syndrome2Dec 13, 2022
ABCD syndrome3Dec 13, 2022
ABri amyloidosis1Dec 13, 2022
ACTH-independent macronodular adrenal hyperplasia 149Dec 13, 2022
ACTH-independent macronodular adrenal hyperplasia 23Dec 13, 2022
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder9Dec 13, 2022
ADULT syndrome32Dec 13, 2022
ADan amyloidosis1Dec 13, 2022
AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE8Dec 13, 2022
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome3Dec 13, 2022
AICA-ribosiduria5Dec 13, 2022
ALDH18A1-related de Barsy syndrome4Dec 13, 2022
ALG1-congenital disorder of glycosylation88Dec 13, 2022
ALG11-congenital disorder of glycosylation1Dec 13, 2022
ALG12-congenital disorder of glycosylation3Dec 13, 2022
ALG2-congenital disorder of glycosylation8Dec 13, 2022
ALG3-congenital disorder of glycosylation1Dec 13, 2022
ALG6-congenital disorder of glycosylation 1C12Dec 13, 2022
ALG8 congenital disorder of glycosylation32Dec 13, 2022
ALG9 congenital disorder of glycosylation17Dec 13, 2022
Aarskog syndrome2Dec 13, 2022
Abetalipoproteinaemia8Dec 13, 2022
Abortive cerebellar ataxia4Dec 13, 2022
Abruzzo-Erickson syndrome2Dec 13, 2022
Achondrogenesis type II26Dec 13, 2022
Achondrogenesis, type IA5Dec 13, 2022
Achondrogenesis, type IB11Dec 13, 2022
Achondroplasia26Dec 13, 2022
Achromatopsia 25Dec 13, 2022
Achromatopsia 312Dec 13, 2022
Acne inversa, familial, 13Dec 13, 2022
Acne inversa, familial, 36Dec 13, 2022
Acquired hemoglobin H disease13Dec 13, 2022
Acquired polycythemia vera4Dec 13, 2022
Acrocallosal syndrome20Dec 13, 2022
Acrocapitofemoral dysplasia1Dec 13, 2022
Acrocephalosyndactyly type I55Dec 13, 2022
Acrodermatitis continua suppurativa of Hallopeau4Dec 13, 2022
Acrodysostosis 1 with or without hormone resistance15Dec 13, 2022
Acrodysostosis 2 with or without hormone resistance1Dec 13, 2022
Acrokeratosis verruciformis of Hopf4Dec 13, 2022
Acroleukopathy, symmetric2Nov 14, 2018
Acromelic frontonasal dysostosis5Dec 13, 2022
Acromesomelic dysplasia 1, Maroteaux type2Dec 13, 2022
Acromesomelic dysplasia 2B1Dec 13, 2022
Acromesomelic dysplasia 2C, Hunter-Thompson type1Dec 13, 2022
Acromesomelic dysplasia 31Dec 13, 2022
Acromicric dysplasia247Dec 13, 2022
Acroosteolysis-keloid-like lesions-premature aging syndrome1Dec 13, 2022
Actin accumulation myopathy2Dec 13, 2022
Action myoclonus-renal failure syndrome54Dec 13, 2022
Acute febrile neutrophilic dermatosis126Dec 13, 2022
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins13Dec 13, 2022
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome1Dec 13, 2022
Acute intermittent porphyria3Dec 13, 2022
Acute lymphoid leukemia62Dec 13, 2022
Acute myeloid leukemia95Dec 13, 2022
Acute promyelocytic leukemia2Dec 13, 2022
Acyl-CoA dehydrogenase 9 deficiency14Dec 13, 2022
Acyl-CoA oxidase deficiency3Dec 13, 2022
Adams-Oliver syndrome 11Dec 13, 2022
Adams-Oliver syndrome 28Dec 13, 2022
Adams-Oliver syndrome 571Dec 13, 2022
Adams-Oliver syndrome 61Dec 13, 2022
Adenine phosphoribosyltransferase deficiency16Dec 13, 2022
Adenosine kinase deficiency1Dec 13, 2022
Adenylosuccinate lyase deficiency12Dec 13, 2022
Adrenocortical carcinoma, hereditary28Dec 13, 2022
Adrenoleukodystrophy12Dec 13, 2022
Adult hypophosphatasia82Dec 13, 2022
Adult neuronal ceroid lipofuscinosis3Nov 14, 2018
Adult polyglucosan body disease14Dec 13, 2022
Adult-onset autosomal dominant demyelinating leukodystrophy1Dec 13, 2022
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency3Dec 13, 2022
Agammaglobulinemia 2, autosomal recessive3Dec 13, 2022
Agammaglobulinemia 3, autosomal recessive2Dec 13, 2022
Agammaglobulinemia 4, autosomal recessive2Dec 13, 2022
Agammaglobulinemia 5, autosomal dominant3Dec 13, 2022
Agammaglobulinemia 6, autosomal recessive1Dec 13, 2022
Agammaglobulinemia 7, autosomal recessive4Dec 13, 2022
Agammaglobulinemia 8, autosomal dominant8Dec 13, 2022
Age related macular degeneration 121Dec 13, 2022
Age related macular degeneration 111Dec 13, 2022
Age related macular degeneration 1355Dec 13, 2022
Age related macular degeneration 1414Dec 13, 2022
Age related macular degeneration 156Dec 13, 2022
Age related macular degeneration 263Dec 13, 2022
Age related macular degeneration 478Dec 13, 2022
Age related macular degeneration 528Dec 13, 2022
Age related macular degeneration 71Dec 13, 2022
Age related macular degeneration 998Dec 13, 2022
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome2Dec 13, 2022
Agenesis of the corpus callosum with peripheral neuropathy8Dec 13, 2022
Aicardi-Goutieres syndrome 19Dec 13, 2022
Aicardi-Goutieres syndrome 210Dec 13, 2022
Aicardi-Goutieres syndrome 37Dec 13, 2022
Aicardi-Goutieres syndrome 48Dec 13, 2022
Aicardi-Goutieres syndrome 57Dec 13, 2022
Aicardi-Goutieres syndrome 612Dec 13, 2022
Aicardi-Goutieres syndrome 721Dec 13, 2022
Al-Gazali syndrome3Dec 13, 2022
Alacrima, achalasia, and intellectual disability syndrome5Dec 13, 2022
Alagille syndrome due to a JAG1 point mutation112Dec 13, 2022
Alagille syndrome due to a NOTCH2 point mutation111Dec 13, 2022
Alcohol sensitivity, acute1Dec 13, 2022
Aldosterone-producing adenoma with seizures and neurological abnormalities17Dec 13, 2022
Alexander disease6Dec 13, 2022
Alkaptonuria36Dec 13, 2022
Allan-Herndon-Dudley syndrome3Dec 13, 2022
Alopecia-intellectual disability syndrome 42Dec 13, 2022
Alpha thalassemia-X-linked intellectual disability syndrome13Dec 13, 2022
Alpha-1-antitrypsin deficiency17Dec 13, 2022
Alpha-N-acetylgalactosaminidase deficiency type 14Dec 13, 2022
Alpha-N-acetylgalactosaminidase deficiency type 24Dec 13, 2022
Alpha-methylacyl-CoA racemase deficiency5Dec 13, 2022
Alstrom syndrome559Dec 13, 2022
Alternating hemiplegia of childhood 116Dec 13, 2022
Alternating hemiplegia of childhood 219Dec 13, 2022
Alveolar capillary dysplasia with pulmonary venous misalignment1Dec 13, 2022
Alveolar rhabdomyosarcoma4Dec 13, 2022
Alzheimer disease2Nov 14, 2018
Alzheimer disease 181Dec 13, 2022
Alzheimer disease 27Dec 13, 2022
Alzheimer disease 313Dec 13, 2022
Alzheimer disease 419Dec 13, 2022
Alzheimer disease 92Dec 13, 2022
Alzheimer disease type 125Dec 13, 2022
Amelocerebrohypohidrotic syndrome2Dec 13, 2022
Amelogenesis imperfecta hypomaturation type 2A312Dec 13, 2022
Amelogenesis imperfecta type 1A15Dec 13, 2022
Amelogenesis imperfecta type 1G26Dec 13, 2022
Amelogenesis imperfecta, hypocalcification type2Dec 13, 2022
Amelogenesis imperfecta, type 1J1Dec 13, 2022
Aminoacylase 1 deficiency5Dec 13, 2022
Aminoglycoside-induced deafness13Dec 13, 2022
Amish lethal microcephaly2Nov 14, 2018
Amyloidogenic transthyretin amyloidosis40Dec 13, 2022
Amyotrophic lateral sclerosis type 126Dec 13, 2022
Amyotrophic lateral sclerosis type 118Dec 13, 2022
Amyotrophic lateral sclerosis type 122Dec 13, 2022
Amyotrophic lateral sclerosis type 151Dec 13, 2022
Amyotrophic lateral sclerosis type 161Dec 13, 2022
Amyotrophic lateral sclerosis type 192Dec 13, 2022
Amyotrophic lateral sclerosis type 2, juvenile8Dec 13, 2022
Amyotrophic lateral sclerosis type 201Dec 13, 2022
Amyotrophic lateral sclerosis type 413Dec 13, 2022
Amyotrophic lateral sclerosis type 529Dec 13, 2022
Amyotrophic lateral sclerosis type 64Dec 13, 2022
Amyotrophic lateral sclerosis, susceptibility to, 245Dec 13, 2022
Amyotrophic lateral sclerosis, susceptibility to, 254Dec 13, 2022
Amyotrophic lateral sclerosis-parkinsonism-dementia complex1Dec 13, 2022
Amyotrophic neuralgia2Dec 13, 2022
Anauxetic dysplasia 149Dec 13, 2022
Andersen Tawil syndrome35Dec 13, 2022
Androgen resistance syndrome12Dec 13, 2022
Anemia, nonspherocytic hemolytic, due to G6PD deficiency15Dec 13, 2022
Aneurysm-osteoarthritis syndrome14Dec 13, 2022
Angelman syndrome3Dec 13, 2022
Angioedema, hereditary, 430Dec 13, 2022
Angiokeratoma corporis diffusum50Dec 13, 2022
Aniridia 164Dec 13, 2022
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome32Dec 13, 2022
Annular epidermolytic ichthyosis6Dec 13, 2022
Anophthalmia/microphthalmia-esophageal atresia syndrome1Nov 14, 2018
Anterior segment dysgenesis 327Dec 13, 2022
Anterior segment dysgenesis 625Dec 13, 2022
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis11Dec 13, 2022
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis66Dec 13, 2022
Aortic aneurysm, familial thoracic 103Dec 13, 2022
Aortic aneurysm, familial thoracic 11, susceptibility to1Dec 13, 2022
Aortic aneurysm, familial thoracic 4126Dec 13, 2022
Aortic aneurysm, familial thoracic 610Dec 13, 2022
Aortic aneurysm, familial thoracic 7142Dec 13, 2022
Aortic aneurysm, familial thoracic 87Dec 13, 2022
Aortic aneurysm, familial thoracic 91Dec 13, 2022
Aortic valve disease 171Dec 13, 2022
Aortic valve disease 24Dec 13, 2022
Aortic valve disease 31Dec 13, 2022
Aplastic anemia105Dec 13, 2022
Apparent mineralocorticoid excess9Dec 13, 2022
Arginase deficiency7Dec 13, 2022
Arginine:glycine amidinotransferase deficiency39Dec 13, 2022
Argininosuccinate lyase deficiency16Dec 13, 2022
Aromatase deficiency2Dec 13, 2022
Aromatase excess syndrome2Dec 13, 2022
Arrhinia with choanal atresia and microphthalmia syndrome4Dec 13, 2022
Arrhythmogenic cardiomyopathy with woolly hair and keratoderma240Dec 13, 2022
Arrhythmogenic right ventricular dysplasia 129Dec 13, 2022
Arrhythmogenic right ventricular dysplasia 10101Dec 13, 2022
Arrhythmogenic right ventricular dysplasia 1171Dec 13, 2022
Arrhythmogenic right ventricular dysplasia 12100Dec 13, 2022
Arrhythmogenic right ventricular dysplasia 139Dec 13, 2022
Arrhythmogenic right ventricular dysplasia 2204Dec 13, 2022
Arrhythmogenic right ventricular dysplasia 554Dec 13, 2022
Arrhythmogenic right ventricular dysplasia 8240Dec 13, 2022
Arrhythmogenic right ventricular dysplasia 970Dec 13, 2022
Arrhythmogenic right ventricular dysplasia, familial, 142Dec 13, 2022
Arterial calcification, generalized, of infancy, 126Dec 13, 2022
Arterial calcification, generalized, of infancy, 2205Dec 13, 2022
Arterial tortuosity syndrome9Dec 13, 2022
Arthrogryposis multiplex congenita 3, myogenic type31Dec 13, 2022
Arthrogryposis multiplex congenita 53Dec 13, 2022
Arthrogryposis multiplex congenita 689Dec 13, 2022
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development28Dec 13, 2022
Arthrogryposis, distal, type 1A2Dec 13, 2022
Arthrogryposis, distal, type 1B3Dec 13, 2022
Arthrogryposis, distal, type 2B34Dec 13, 2022
Arthrogryposis, distal, with impaired proprioception and touch5Dec 13, 2022
Arthrogryposis, renal dysfunction, and cholestasis 12Dec 13, 2022
Arthrogryposis, renal dysfunction, and cholestasis 21Nov 14, 2018
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome5Dec 13, 2022
Arts syndrome8Dec 13, 2022
Aspartylglucosaminuria12Dec 13, 2022
Asperger syndrome, X-linked, susceptibility to, 22Dec 13, 2022
Aspergillosis, susceptibility to2Dec 13, 2022
Asphyxiating thoracic dystrophy 22Nov 14, 2018
Asphyxiating thoracic dystrophy 316Dec 13, 2022
Asphyxiating thoracic dystrophy 4131Dec 13, 2022
Asphyxiating thoracic dystrophy 5114Dec 13, 2022
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome8Dec 13, 2022
Ataxia - oculomotor apraxia type 419Dec 13, 2022
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia2Dec 13, 2022
Ataxia-hypogonadism-choroidal dystrophy syndrome3Dec 13, 2022
Ataxia-pancytopenia syndrome7Dec 13, 2022
Ataxia-telangiectasia syndrome230Dec 13, 2022
Ataxia-telangiectasia-like disorder 124Dec 13, 2022
Ateleiotic dwarfism3Dec 13, 2022
Atelosteogenesis type I18Dec 13, 2022
Atelosteogenesis type II11Dec 13, 2022
Atelosteogenesis type III18Dec 13, 2022
Atransferrinemia3Dec 13, 2022
Atrial conduction disease2Dec 13, 2022
Atrial fibrillation, familial, 10195Dec 13, 2022
Atrial fibrillation, familial, 111Nov 14, 2018
Atrial fibrillation, familial, 1246Dec 13, 2022
Atrial fibrillation, familial, 1326Dec 13, 2022
Atrial fibrillation, familial, 1413Dec 13, 2022
Atrial fibrillation, familial, 384Dec 13, 2022
Atrial fibrillation, familial, 415Dec 13, 2022
Atrial fibrillation, familial, 66Dec 13, 2022
Atrial fibrillation, familial, 744Dec 13, 2022
Atrial fibrillation, familial, 935Dec 13, 2022
Atrial septal defect 27Dec 13, 2022
Atrial septal defect 3230Dec 13, 2022
Atrial septal defect 416Dec 13, 2022
Atrial septal defect 513Dec 13, 2022
Atrial septal defect 734Dec 13, 2022
Atrial septal defect 98Dec 13, 2022
Atrial standstill 11Nov 14, 2018
Atrial standstill 26Dec 13, 2022
Atrioventricular septal defect 33Dec 13, 2022
Atrioventricular septal defect 47Dec 13, 2022
Atrioventricular septal defect 58Dec 13, 2022
Atrioventricular septal defect, susceptibility to, 22Dec 13, 2022
Attention deficit-hyperactivity disorder, susceptibility to, 72Dec 13, 2022
Atypical Gaucher disease due to saposin C deficiency6Dec 13, 2022
Atypical hemolytic-uremic syndrome with B factor anomaly8Dec 13, 2022
Atypical hemolytic-uremic syndrome with C3 anomaly98Dec 13, 2022
Atypical hemolytic-uremic syndrome with I factor anomaly55Dec 13, 2022
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly9Dec 13, 2022
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly24Dec 13, 2022
Auditory neuropathy, autosomal dominant 354Dec 13, 2022
Auditory neuropathy-optic atrophy syndrome1Dec 13, 2022
Auriculocondylar syndrome 22Dec 13, 2022
Autism spectrum disorder - epilepsy - arthrogryposis syndrome2Dec 13, 2022
Autism spectrum disorder due to AUTS2 deficiency6Dec 13, 2022
Autism, susceptibility to, 1534Dec 13, 2022
Autism, susceptibility to, 161Dec 13, 2022
Autism, susceptibility to, 172Dec 13, 2022
Autism, susceptibility to, 187Dec 13, 2022
Autism, susceptibility to, 51Dec 13, 2022
Autism, susceptibility to, X-linked 22Dec 13, 2022
Autism, susceptibility to, X-linked 322Dec 13, 2022
Autism, susceptibility to, X-linked 41Dec 13, 2022
Autoimmune disease, multisystem, infantile-onset, 24Dec 13, 2022
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome1Dec 13, 2022
Autoimmune interstitial lung disease-arthritis syndrome5Dec 13, 2022
Autoimmune lymphoproliferative syndrome type 13Dec 13, 2022
Autoimmune lymphoproliferative syndrome type 2A1Dec 13, 2022
Autoimmune lymphoproliferative syndrome type 2B1Dec 13, 2022
Autoimmune lymphoproliferative syndrome type 411Dec 13, 2022
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD2Dec 13, 2022
Autoimmune thyroid disease, susceptibility to, 320Dec 13, 2022
Autoinflammation with arthritis and dyskeratosis8Dec 13, 2022
Autoinflammation with episodic fever and lymphadenopathy3Dec 13, 2022
Autoinflammation, immune dysregulation, and eosinophilia2Dec 13, 2022
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation177Dec 13, 2022
Autoinflammatory syndrome, familial, Behcet-like 13Dec 13, 2022
Autosomal dominant Alport syndrome159Dec 13, 2022
Autosomal dominant Charcot-Marie-Tooth disease type 2W1Dec 13, 2022
Autosomal dominant Kenny-Caffey syndrome1Dec 13, 2022
Autosomal dominant Parkinson disease 18Dec 13, 2022
Autosomal dominant Parkinson disease 48Dec 13, 2022
Autosomal dominant Parkinson disease 863Dec 13, 2022
Autosomal dominant Robinow syndrome 120Dec 13, 2022
Autosomal dominant Robinow syndrome 24Dec 13, 2022
Autosomal dominant aplasia and myelodysplasia3Dec 13, 2022
Autosomal dominant centronuclear myopathy6Dec 13, 2022
Autosomal dominant cerebellar ataxia, deafness and narcolepsy26Dec 13, 2022
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures3Dec 13, 2022
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures27Dec 13, 2022
Autosomal dominant congenital benign spinal muscular atrophy11Dec 13, 2022
Autosomal dominant distal renal tubular acidosis48Dec 13, 2022
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome116Dec 13, 2022
Autosomal dominant hypocalcemia 1115Dec 13, 2022
Autosomal dominant hypocalcemia 226Dec 13, 2022
Autosomal dominant hypophosphatemic rickets16Dec 13, 2022
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome4Dec 13, 2022
Autosomal dominant isolated somatotropin deficiency3Dec 13, 2022
Autosomal dominant keratitis4Dec 13, 2022
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome60Dec 13, 2022
Autosomal dominant limb-girdle muscular dystrophy type 1G2Dec 13, 2022
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency2Dec 13, 2022
Autosomal dominant nocturnal frontal lobe epilepsy 114Dec 13, 2022
Autosomal dominant nocturnal frontal lobe epilepsy 38Dec 13, 2022
Autosomal dominant nocturnal frontal lobe epilepsy 48Dec 13, 2022
Autosomal dominant nocturnal frontal lobe epilepsy 516Dec 13, 2022
Autosomal dominant nonsyndromic hearing loss 19Dec 13, 2022
Autosomal dominant nonsyndromic hearing loss 1029Dec 13, 2022
Autosomal dominant nonsyndromic hearing loss 1189Dec 13, 2022
Autosomal dominant nonsyndromic hearing loss 1210Dec 13, 2022
Autosomal dominant nonsyndromic hearing loss 1317Dec 13, 2022
Autosomal dominant nonsyndromic hearing loss 152Dec 13, 2022
Autosomal dominant nonsyndromic hearing loss 17114Dec 13, 2022
Autosomal dominant nonsyndromic hearing loss 205Dec 13, 2022
Autosomal dominant nonsyndromic hearing loss 213Dec 13, 2022
Autosomal dominant nonsyndromic hearing loss 229Dec 13, 2022
Autosomal dominant nonsyndromic hearing loss 236Dec 13, 2022
Autosomal dominant nonsyndromic hearing loss 256Dec 13, 2022
Autosomal dominant nonsyndromic hearing loss 271Dec 13, 2022
Autosomal dominant nonsyndromic hearing loss 283Dec 13, 2022
Autosomal dominant nonsyndromic hearing loss 2A3Dec 13, 2022
Autosomal dominant nonsyndromic hearing loss 2B5Dec 13, 2022
Autosomal dominant nonsyndromic hearing loss 363Dec 13, 2022
Autosomal dominant nonsyndromic hearing loss 3A60Dec 13, 2022
Autosomal dominant nonsyndromic hearing loss 3B7Dec 13, 2022
Autosomal dominant nonsyndromic hearing loss 405Dec 13, 2022
Autosomal dominant nonsyndromic hearing loss 411Dec 13, 2022
Autosomal dominant nonsyndromic hearing loss 442Dec 13, 2022
Autosomal dominant nonsyndromic hearing loss 4A10Dec 13, 2022
Autosomal dominant nonsyndromic hearing loss 4B4Dec 13, 2022
Autosomal dominant nonsyndromic hearing loss 52Dec 13, 2022
Autosomal dominant nonsyndromic hearing loss 563Dec 13, 2022
Autosomal dominant nonsyndromic hearing loss 6233Dec 13, 2022
Autosomal dominant nonsyndromic hearing loss 641Dec 13, 2022
Autosomal dominant nonsyndromic hearing loss 6513Dec 13, 2022
Autosomal dominant nonsyndromic hearing loss 691Dec 13, 2022
Autosomal dominant optic atrophy classic form4Dec 13, 2022
Autosomal dominant osteopetrosis 1253Dec 13, 2022
Autosomal dominant osteopetrosis 24Dec 13, 2022
Autosomal dominant palmoplantar keratoderma and congenital alopecia3Dec 13, 2022
Autosomal dominant pseudohypoaldosteronism type 112Dec 13, 2022
Autosomal dominant sideroblastic anemia1Dec 13, 2022
Autosomal dominant vitreoretinochoroidopathy8Dec 13, 2022
Autosomal recessive Alport syndrome333Dec 13, 2022
Autosomal recessive DOPA responsive dystonia32Dec 13, 2022
Autosomal recessive Kenny-Caffey syndrome3Dec 13, 2022
Autosomal recessive Parkinson disease 1434Dec 13, 2022
Autosomal recessive Robinow syndrome75Dec 13, 2022
Autosomal recessive ataxia due to ubiquinone deficiency9Dec 13, 2022
Autosomal recessive ataxia, Beauce type45Dec 13, 2022
Autosomal recessive bestrophinopathy8Dec 13, 2022
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome1Dec 13, 2022
Autosomal recessive complex spastic paraplegia type 9B4Dec 13, 2022
Autosomal recessive congenital ichthyosis 120Dec 13, 2022
Autosomal recessive congenital ichthyosis 101Dec 13, 2022
Autosomal recessive congenital ichthyosis 4A7Dec 13, 2022
Autosomal recessive congenital ichthyosis 4B7Dec 13, 2022
Autosomal recessive congenital ichthyosis 52Dec 13, 2022
Autosomal recessive cutis laxa type 2B4Dec 13, 2022
Autosomal recessive cutis laxa type 2D1Dec 13, 2022
Autosomal recessive distal renal tubular acidosis3Jul 9, 2021
Autosomal recessive distal spinal muscular atrophy 18Dec 13, 2022
Autosomal recessive distal spinal muscular atrophy 21Dec 13, 2022
Autosomal recessive early-onset Parkinson disease 231Dec 13, 2022
Autosomal recessive early-onset Parkinson disease 630Dec 13, 2022
Autosomal recessive early-onset Parkinson disease 78Dec 13, 2022
Autosomal recessive hypophosphatemic bone disease97Dec 13, 2022
Autosomal recessive juvenile Parkinson disease 224Dec 13, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2A51Dec 13, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2B53Dec 13, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2C16Dec 13, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2D11Dec 13, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2E9Dec 13, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2F80Dec 13, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2G26Dec 13, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2I69Dec 13, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2J1285Dec 13, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2K22Dec 13, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2L11Dec 13, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2M54Dec 13, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2N16Dec 13, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2O20Dec 13, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2P3Dec 13, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2Q39Dec 13, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2T3Dec 13, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2U1Dec 13, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2X1Dec 13, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2Y2Dec 13, 2022
Autosomal recessive limb-girdle muscular dystrophy type R182Dec 13, 2022
Autosomal recessive lower motor neuron disease with childhood onset3Dec 13, 2022
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency2Dec 13, 2022
Autosomal recessive multiple pterygium syndrome7Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 1011Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 1024Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 1043Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 12128Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 154Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 164Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 18A20Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 18B17Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 1A72Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 1B7Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 289Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 2110Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 224Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 2364Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 243Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 251Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 2818Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 292Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 333Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 3010Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 3112Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 321Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 367Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 379Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 4108Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 425Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 441Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 485Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 495Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 5317Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 592Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 614Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 631Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 6623Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 674Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 73Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 702Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 761Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 7741Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 793Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 812Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 84A4Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 84B10Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 8613Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 882Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 892Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 931Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 912Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 933Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 9724Dec 13, 2022
Autosomal recessive nonsyndromic hearing loss 984Dec 13, 2022
Autosomal recessive osteopetrosis 138Dec 13, 2022
Autosomal recessive osteopetrosis 21Dec 13, 2022
Autosomal recessive osteopetrosis 44Dec 13, 2022
Autosomal recessive osteopetrosis 51Dec 13, 2022
Autosomal recessive osteopetrosis 61Dec 13, 2022
Autosomal recessive osteopetrosis 72Dec 13, 2022
Autosomal recessive osteopetrosis 81Dec 13, 2022
Autosomal recessive polycystic kidney disease19Nov 14, 2018
Autosomal recessive proximal renal tubular acidosis17Dec 13, 2022
Autosomal recessive pseudohypoaldosteronism type 152Dec 13, 2022
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency4Dec 13, 2022
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency1Dec 13, 2022
Autosomal recessive spastic paraplegia type 761Dec 13, 2022
Autosomal recessive spastic paraplegia type 7839Dec 13, 2022
Autosomal recessive spinocerebellar ataxia 103Dec 13, 2022
Autosomal recessive spinocerebellar ataxia 1216Dec 13, 2022
Autosomal recessive spinocerebellar ataxia 139Dec 13, 2022
Autosomal recessive spinocerebellar ataxia 146Dec 13, 2022
Autosomal recessive spinocerebellar ataxia 161Dec 13, 2022
Autosomal recessive spinocerebellar ataxia 172Dec 13, 2022
Autosomal recessive spinocerebellar ataxia 21Dec 13, 2022
Autosomal recessive spinocerebellar ataxia 201Dec 13, 2022
Autosomal recessive spinocerebellar ataxia 732Dec 13, 2022
Autosomal systemic lupus erythematosus type 1636Dec 13, 2022
Avascular necrosis of femoral head, primary, 126Dec 13, 2022
Avascular necrosis of femoral head, primary, 211Dec 13, 2022
Axenfeld-Rieger syndrome type 327Dec 13, 2022
Ayme-Gripp syndrome3Dec 13, 2022
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations1Dec 13, 2022
B4GALT1-congenital disorder of glycosylation2Dec 13, 2022
BAP1-related tumor predisposition syndrome17Dec 13, 2022
BDV SYNDROME2Dec 13, 2022
BENTA disease9Dec 13, 2022
BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME8Dec 13, 2022
BLOOD GROUP, EMM SYSTEM2Dec 13, 2022
BLOOD GROUP--DIEGO SYSTEM48Dec 13, 2022
BLOOD GROUP--FROESE48Dec 13, 2022
BLOOD GROUP--LUTHERAN INHIBITOR2Dec 13, 2022
BLOOD GROUP--LUTHERAN SYSTEM1Dec 13, 2022
BLOOD GROUP--SWANN SYSTEM48Dec 13, 2022
BLOOD GROUP--WALDNER TYPE48Dec 13, 2022
BLOOD GROUP--WRIGHT ANTIGEN48Dec 13, 2022
BNAR syndrome65Dec 13, 2022
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 2024Dec 13, 2022
Bacteremia, susceptibility to, 11Dec 13, 2022
Bailey-Bloch congenital myopathy1Nov 14, 2018
Baller-Gerold syndrome78Dec 13, 2022
Bamforth-Lazarus syndrome1Dec 13, 2022
Bannayan-Riley-Ruvalcaba syndrome1May 23, 2017
Baraitser-Winter syndrome 129Dec 13, 2022
Baraitser-winter syndrome 25Dec 13, 2022
Bardet-Biedl syndrome 1101Dec 13, 2022
Bardet-Biedl syndrome 1069Dec 13, 2022
Bardet-Biedl syndrome 1185Dec 13, 2022
Bardet-Biedl syndrome 1272Dec 13, 2022
Bardet-Biedl syndrome 1314Dec 13, 2022
Bardet-Biedl syndrome 14364Dec 13, 2022
Bardet-Biedl syndrome 1571Dec 13, 2022
Bardet-Biedl syndrome 1674Dec 13, 2022
Bardet-Biedl syndrome 1718Dec 13, 2022
Bardet-Biedl syndrome 1815Dec 13, 2022
Bardet-Biedl syndrome 2100Dec 13, 2022
Bardet-Biedl syndrome 20203Dec 13, 2022
Bardet-Biedl syndrome 36Dec 13, 2022
Bardet-Biedl syndrome 460Dec 13, 2022
Bardet-Biedl syndrome 530Dec 13, 2022
Bardet-Biedl syndrome 642Dec 13, 2022
Bardet-Biedl syndrome 761Dec 13, 2022
Bardet-Biedl syndrome 833Dec 13, 2022
Bardet-Biedl syndrome 9110Dec 13, 2022
Bardet-biedl syndrome 2121Dec 13, 2022
Bartsocas-Papas syndrome1Dec 13, 2022
Bartter disease type 152Dec 13, 2022
Bartter disease type 219Dec 13, 2022
Bartter disease type 350Dec 13, 2022
Bartter disease type 4B53Dec 13, 2022
Bartter disease type 4a31Dec 13, 2022
Bartter disease type 51Dec 13, 2022
Basal cell carcinoma, susceptibility to, 177Dec 13, 2022
Basal cell carcinoma, susceptibility to, 728Dec 13, 2022
Basal ganglia calcification, idiopathic, 41Dec 13, 2022
Basal ganglia calcification, idiopathic, 62Dec 13, 2022
Basal laminar drusen78Dec 13, 2022
Beaded hair5Dec 13, 2022
Beare-Stevenson cutis gyrata syndrome55Dec 13, 2022
Beck-Fahrner syndrome4Dec 13, 2022
Becker muscular dystrophy145Dec 13, 2022
Beckwith-Wiedemann syndrome136Dec 13, 2022
Benign familial hematuria331Dec 13, 2022
Benign recurrent intrahepatic cholestasis type 16Dec 13, 2022
Benign recurrent intrahepatic cholestasis type 222Dec 13, 2022
Benign scapuloperoneal muscular dystrophy with cardiomyopathy120Dec 13, 2022
Bernard Soulier syndrome9Dec 13, 2022
Bernard-Soulier syndrome, type A2, autosomal dominant4Dec 13, 2022
Beta-D-mannosidosis7Dec 13, 2022
Beta-hydroxyisobutyryl-CoA deacylase deficiency1Dec 13, 2022
Beta-thalassemia HBB/LCRB40Dec 13, 2022
Beta-thalassemia-X-linked thrombocytopenia syndrome6Dec 13, 2022
Bethlem myopathy 146Dec 13, 2022
Bethlem myopathy 243Dec 13, 2022
Bietti crystalline corneoretinal dystrophy1Dec 13, 2022
Bifunctional peroxisomal enzyme deficiency11Dec 13, 2022
Bilateral frontoparietal polymicrogyria6Dec 13, 2022
Bilateral parasagittal parieto-occipital polymicrogyria8Dec 13, 2022
Bile acid conjugation defect 12Dec 13, 2022
Bile acid malabsorption, primary4Dec 13, 2022
Bilirubin, serum level of, quantitative trait locus 110Dec 13, 2022
Biotin-responsive basal ganglia disease6Dec 13, 2022
Biotinidase deficiency24Dec 13, 2022
Birk-Barel syndrome1Dec 13, 2022
Blau syndrome9Dec 13, 2022
Bleeding disorder, platelet-type, 241Dec 13, 2022
Blepharocheilodontic syndrome 136Dec 13, 2022
Blepharophimosis - intellectual disability syndrome, MKB type14Dec 13, 2022
Blepharophimosis - intellectual disability syndrome, SBBYS type80Dec 13, 2022
Blepharophimosis, ptosis, and epicanthus inversus syndrome3Dec 13, 2022
Blood group, Junior system1Dec 13, 2022
Bloom syndrome61Dec 13, 2022
Body mass index quantitative trait locus 181Dec 13, 2022
Body mass index quantitative trait locus 45Dec 13, 2022
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency1Dec 13, 2022
Bohring-Opitz syndrome7Dec 13, 2022
Bombay phenotype1Dec 13, 2022
Bone fragility with contractures, arterial rupture, and deafness1Dec 13, 2022
Bone marrow failure syndrome 34Dec 13, 2022
Bone marrow failure syndrome 41Dec 13, 2022
Bone marrow failure syndrome 522Dec 13, 2022
Bone mineral density quantitative trait locus 1253Dec 13, 2022
Bone osteosarcoma103Dec 13, 2022
Boomerang dysplasia18Dec 13, 2022
Bothnia retinal dystrophy2Dec 13, 2022
Brachydactyly type A1A1Dec 13, 2022
Brachydactyly type A1C1Dec 13, 2022
Brachydactyly type A1D1Dec 13, 2022
Brachydactyly type A22Dec 13, 2022
Brachydactyly type B175Dec 13, 2022
Brachydactyly type C1Dec 13, 2022
Brachydactyly type D5Dec 13, 2022
Brachydactyly type E15Dec 13, 2022
Brachydactyly-arterial hypertension syndrome1Dec 13, 2022
Brachydactyly-syndactyly syndrome5Dec 13, 2022
Brachyolmia-amelogenesis imperfecta syndrome4Dec 13, 2022
Brachyrachia (short spine dysplasia)11Dec 13, 2022
Bradyopsia3Dec 13, 2022
Brain abnormalities, neurodegeneration, and dysosteosclerosis7Dec 13, 2022
Brain small vessel disease 1 with or without ocular anomalies116Dec 13, 2022
Branched-chain keto acid dehydrogenase kinase deficiency2Dec 13, 2022
Branchiooculofacial syndrome15Dec 13, 2022
Branchiootic syndrome 141Dec 13, 2022
Branchiootic syndrome 36Dec 13, 2022
Branchiootorenal syndrome 147Dec 13, 2022
Branchiootorenal syndrome 227Dec 13, 2022
Breast-ovarian cancer, familial, susceptibility to, 1156Dec 13, 2022
Breast-ovarian cancer, familial, susceptibility to, 2217Dec 13, 2022
Breast-ovarian cancer, familial, susceptibility to, 377Dec 13, 2022
Breast-ovarian cancer, familial, susceptibility to, 418Dec 13, 2022
Brittle cornea syndrome 147Dec 13, 2022
Brittle cornea syndrome 23Dec 13, 2022
Brody myopathy1Dec 13, 2022
Bronchiectasis with or without elevated sweat chloride 1185Dec 13, 2022
Bronchiectasis with or without elevated sweat chloride 221Dec 13, 2022
Bronchiectasis with or without elevated sweat chloride 311Dec 13, 2022
Brooke-Spiegler syndrome1Dec 13, 2022
Brown-Vialetto-van Laere syndrome 19Dec 13, 2022
Brown-Vialetto-van Laere syndrome 25Dec 13, 2022
Bruck syndrome 15Dec 13, 2022
Brugada syndrome 1195Dec 13, 2022
Brugada syndrome 227Dec 13, 2022
Brugada syndrome 3100Dec 13, 2022
Brugada syndrome 445Dec 13, 2022
Brugada syndrome 526Dec 13, 2022
Brugada syndrome 612Dec 13, 2022
Brugada syndrome 713Dec 13, 2022
Brugada syndrome 874Dec 13, 2022
Brugada syndrome 916Dec 13, 2022
Budd-Chiari syndrome10Dec 13, 2022
Bullous ichthyosiform erythroderma6Dec 13, 2022
C syndrome1Dec 13, 2022
C1 inhibitor deficiency2Dec 13, 2022
CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA3Dec 13, 2022
CARASIL syndrome1Dec 13, 2022
CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY1Dec 13, 2022
CBL-related disorder48Dec 13, 2022
CEDNIK syndrome3Dec 13, 2022
CFHR5 deficiency21Dec 13, 2022
CHARGE association274Dec 13, 2022
CHIME syndrome2Nov 14, 2018
CK syndrome15Dec 13, 2022
CLAPO syndrome5Dec 13, 2022
CLOVES syndrome5Dec 13, 2022
COACH syndrome 1102Dec 13, 2022
COACH syndrome 220Dec 13, 2022
COACH syndrome 3154Dec 13, 2022
CODAS syndrome1Dec 13, 2022
COG1 congenital disorder of glycosylation1Dec 13, 2022
COG4-congenital disorder of glycosylation3Dec 13, 2022
COG5-congenital disorder of glycosylation12Dec 13, 2022
COG6-ongenital disorder of glycosylation6Dec 13, 2022
COG7 congenital disorder of glycosylation7Dec 13, 2022
COG8-congenital disorder of glycosylation4Dec 13, 2022
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY1Dec 13, 2022
COPD, severe early onset2Dec 13, 2022
Café-au-lait macules with pulmonary stenosis269Dec 13, 2022
Calcium oxalate nephrolithiasis59Dec 13, 2022
Calvarial doughnut lesions-bone fragility syndrome2Dec 13, 2022
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome1Dec 13, 2022
Camptodactyly-tall stature-scoliosis-hearing loss syndrome26Dec 13, 2022
Camptomelic dysplasia1Dec 13, 2022
Cancer of cervix26Dec 13, 2022
Candidiasis, familial, 92Dec 13, 2022
Capillary malformation-arteriovenous malformation 111Dec 13, 2022
Capillary malformation-arteriovenous malformation 23Dec 13, 2022
Carcinoma of colon74Nov 14, 2018
Carcinoma of pancreas80Dec 13, 2022
Cardiac anomalies - developmental delay - facial dysmorphism syndrome8Dec 13, 2022
Cardiac arrhythmia1Nov 14, 2018
Cardiac arrhythmia, ankyrin-B-related205Dec 13, 2022
Cardiac valvular defect, developmental2Dec 13, 2022
Cardiac valvular dysplasia, X-linked39Dec 13, 2022
Cardiac-urogenital syndrome1Dec 13, 2022
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 18Dec 13, 2022
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 22Dec 13, 2022
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 41Dec 13, 2022
Cardiofaciocutaneous syndrome 144Dec 13, 2022
Cardiofaciocutaneous syndrome 210Dec 13, 2022
Cardiofaciocutaneous syndrome 37Dec 13, 2022
Cardiofaciocutaneous syndrome 412Dec 13, 2022
Cardiomyopathy, dilated, 2E43Dec 13, 2022
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis240Dec 13, 2022
Cardiomyopathy, familial restrictive, 122Dec 13, 2022
Cardiomyopathy, familial restrictive, 333Dec 13, 2022
Cardiovascular phenotype1Nov 14, 2018
Carney complex - trismus - pseudocamptodactyly syndrome3Dec 13, 2022
Carney complex, type 115Dec 13, 2022
Carney-Stratakis syndrome32Dec 13, 2022
Carnitine acylcarnitine translocase deficiency5Dec 13, 2022
Carnitine palmitoyl transferase 1A deficiency14Dec 13, 2022
Carnitine palmitoyl transferase II deficiency, myopathic form78Dec 13, 2022
Carnitine palmitoyl transferase II deficiency, neonatal form78Dec 13, 2022
Carnitine palmitoyl transferase II deficiency, severe infantile form78Dec 13, 2022
Carotid intimal medial thickness 11Dec 13, 2022
Carpal tunnel syndrome1Nov 14, 2018
Carpal tunnel syndrome 139Dec 13, 2022
Carpal tunnel syndrome 24Dec 13, 2022
Cataract 1 multiple types1Dec 13, 2022
Cataract 10 multiple types1Dec 13, 2022
Cataract 14 multiple types1Dec 13, 2022
Cataract 16 multiple types15Dec 13, 2022
Cataract 17 multiple types1Dec 13, 2022
Cataract 183Dec 13, 2022
Cataract 20 multiple types1Dec 13, 2022
Cataract 21 multiple types3Dec 13, 2022
Cataract 22 multiple types1Dec 13, 2022
Cataract 34 multiple types1Dec 13, 2022
Cataract 381Dec 13, 2022
Cataract 404Dec 13, 2022
Cataract 41233Dec 13, 2022
Cataract 442Dec 13, 2022
Cataract 6 multiple types2Dec 13, 2022
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome2Dec 13, 2022
Catecholaminergic polymorphic ventricular tachycardia 1318Dec 13, 2022
Catecholaminergic polymorphic ventricular tachycardia 256Dec 13, 2022
Catecholaminergic polymorphic ventricular tachycardia 558Dec 13, 2022
Catel-Manzke syndrome1Nov 14, 2018
Caudal duplication2Dec 13, 2022
Celiac disease, susceptibility to, 41Dec 13, 2022
Cenani-Lenz syndactyly syndrome144Dec 13, 2022
Centra precocious puberty 12Dec 13, 2022
Central core myopathy516Dec 13, 2022
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease6Dec 13, 2022
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 15Dec 13, 2022
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 25Dec 13, 2022
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome19Dec 13, 2022
Cerebellar ataxia-hypogonadism syndrome1Dec 13, 2022
Cerebellar atrophy with seizures and variable developmental delay3Dec 13, 2022
Cerebellar atrophy, developmental delay, and seizures7Dec 13, 2022
Cerebellar atrophy, visual impairment, and psychomotor retardation;6Dec 13, 2022
Cerebellar-facial-dental syndrome1Dec 13, 2022
Cerebral amyloid angiopathy, APP-related10Dec 13, 2022
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 146Dec 13, 2022
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 21Dec 13, 2022
Cerebral arteriovenous malformation10Dec 13, 2022
Cerebral cavernous malformation1Dec 13, 2022
Cerebral cavernous malformation 22Dec 13, 2022
Cerebral folate transport deficiency2Dec 13, 2022
Cerebral palsy, spastic quadriplegic, 288Dec 13, 2022
Cerebrofaciothoracic dysplasia2Dec 13, 2022
Cerebrooculofacioskeletal syndrome 128Dec 13, 2022
Cerebrooculofacioskeletal syndrome 223Dec 13, 2022
Cerebrooculofacioskeletal syndrome 311Dec 13, 2022
Cerebroretinal microangiopathy with calcifications and cysts 122Dec 13, 2022
Cerebroretinal microangiopathy with calcifications and cysts 22Dec 13, 2022
Cernunnos-XLF deficiency1Dec 13, 2022
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)1Dec 13, 2022
Ceroid lipofuscinosis, neuronal, 6A14Dec 13, 2022
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)11Dec 13, 2022
Channelopathy-associated congenital insensitivity to pain, autosomal recessive28Dec 13, 2022
Charcot-Marie-Tooth Disease, axonal, type 2GG1Dec 13, 2022
Charcot-Marie-Tooth disease X-linked dominant 17Dec 13, 2022
Charcot-Marie-Tooth disease X-linked dominant 61Dec 13, 2022
Charcot-Marie-Tooth disease X-linked recessive 47Dec 13, 2022
Charcot-Marie-Tooth disease X-linked recessive 58Dec 13, 2022
Charcot-Marie-Tooth disease axonal type 2C11Dec 13, 2022
Charcot-Marie-Tooth disease axonal type 2CC1Dec 13, 2022
Charcot-Marie-Tooth disease axonal type 2F2Dec 13, 2022
Charcot-Marie-Tooth disease axonal type 2K10Dec 13, 2022
Charcot-Marie-Tooth disease axonal type 2L3Dec 13, 2022
Charcot-Marie-Tooth disease axonal type 2N9Dec 13, 2022
Charcot-Marie-Tooth disease axonal type 2O27Dec 13, 2022
Charcot-Marie-Tooth disease axonal type 2P2Dec 13, 2022
Charcot-Marie-Tooth disease axonal type 2Q2Dec 13, 2022
Charcot-Marie-Tooth disease axonal type 2S8Dec 13, 2022
Charcot-Marie-Tooth disease axonal type 2T2Dec 13, 2022
Charcot-Marie-Tooth disease axonal type 2U1Nov 14, 2018
Charcot-Marie-Tooth disease axonal type 2V17Dec 13, 2022
Charcot-Marie-Tooth disease axonal type 2X29Dec 13, 2022
Charcot-Marie-Tooth disease axonal type 2Z4Dec 13, 2022
Charcot-Marie-Tooth disease dominant intermediate B5Dec 13, 2022
Charcot-Marie-Tooth disease dominant intermediate C2Dec 13, 2022
Charcot-Marie-Tooth disease dominant intermediate D4Nov 14, 2018
Charcot-Marie-Tooth disease dominant intermediate E157Dec 13, 2022
Charcot-Marie-Tooth disease recessive intermediate A10Dec 13, 2022
Charcot-Marie-Tooth disease recessive intermediate B2Dec 13, 2022
Charcot-Marie-Tooth disease recessive intermediate C3Dec 13, 2022
Charcot-Marie-Tooth disease type 1B4Nov 14, 2018
Charcot-Marie-Tooth disease type 1E6Dec 13, 2022
Charcot-Marie-Tooth disease type 1F3Dec 13, 2022
Charcot-Marie-Tooth disease type 2A14Dec 13, 2022
Charcot-Marie-Tooth disease type 2A29Dec 13, 2022
Charcot-Marie-Tooth disease type 2B1120Dec 13, 2022
Charcot-Marie-Tooth disease type 2B213Dec 13, 2022
Charcot-Marie-Tooth disease type 2D2Nov 14, 2018
Charcot-Marie-Tooth disease type 2E3Dec 13, 2022
Charcot-Marie-Tooth disease type 2I4Nov 14, 2018
Charcot-Marie-Tooth disease type 2J4Nov 14, 2018
Charcot-Marie-Tooth disease type 2Y1Dec 13, 2022
Charcot-Marie-Tooth disease type 4A10Dec 13, 2022
Charcot-Marie-Tooth disease type 4B27Dec 13, 2022
Charcot-Marie-Tooth disease type 4B37Dec 13, 2022
Charcot-Marie-Tooth disease type 4C19Dec 13, 2022
Charcot-Marie-Tooth disease type 4D3Dec 13, 2022
Charcot-Marie-Tooth disease type 4E4Nov 14, 2018
Charcot-Marie-Tooth disease type 4F6Dec 13, 2022
Charcot-Marie-Tooth disease type 4G4Dec 13, 2022
Charcot-Marie-Tooth disease type 4J8Dec 13, 2022
Charcot-Marie-Tooth disease type 4K11Dec 13, 2022
Charcot-Marie-Tooth disease, axonal, Type 2HH109Dec 13, 2022
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;9Dec 13, 2022
Charcot-Marie-Tooth disease, axonal, type 2EE4Dec 13, 2022
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive10Dec 13, 2022
Charcot-Marie-Tooth disease, demyelinating, IIA 1H2Dec 13, 2022
Charcot-Marie-Tooth disease, demyelinating, IIA 1I4Dec 13, 2022
Charcot-Marie-Tooth disease, dominant intermediate G3Dec 13, 2022
Charcot-Marie-Tooth disease, type IA6Dec 13, 2022
Charlevoix-Saguenay spastic ataxia42Dec 13, 2022
Chilblain lupus 19Dec 13, 2022
Chilblain lupus 27Dec 13, 2022
Child syndrome15Dec 13, 2022
Childhood apraxia of speech7Dec 13, 2022
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency4Dec 13, 2022
Childhood hypophosphatasia82Dec 13, 2022
Childhood onset GLUT1 deficiency syndrome 210Dec 13, 2022
Chitayat syndrome1Nov 14, 2018
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome3Dec 13, 2022
Cholestanol storage disease25Dec 13, 2022
Cholestasis, intrahepatic, of pregnancy, 16Dec 13, 2022
Cholestasis, intrahepatic, of pregnancy, 35Dec 13, 2022
Cholestasis, progressive familial intrahepatic, 108Dec 13, 2022
Cholestasis, progressive familial intrahepatic, 411Dec 13, 2022
Cholestasis, progressive familial intrahepatic, 51Dec 13, 2022
Cholestasis-pigmentary retinopathy-cleft palate syndrome10Dec 13, 2022
Chondrocalcinosis 23Dec 13, 2022
Chondrodysplasia Blomstrand type33Dec 13, 2022
Chondrodysplasia punctata 2 X-linked dominant4Dec 13, 2022
Chondrodysplasia-pseudohermaphroditism syndrome1Dec 13, 2022
Chondrosarcoma4Dec 13, 2022
Chorea-acanthocytosis25Dec 13, 2022
Choroid plexus papilloma28Dec 13, 2022
Choroidal dystrophy, central areolar 21Dec 13, 2022
Choroidal dystrophy, central areolar, 116Dec 13, 2022
Choroideremia1Nov 14, 2018
Christianson syndrome2Dec 13, 2022
Chromosome 1p32-p31 deletion syndrome1Nov 14, 2018
Chromosome 1q21.1 deletion syndrome2Dec 13, 2022
Chromosome 2P16.3 deletion syndrome27Dec 13, 2022
Chromosome 2q32-q33 deletion syndrome7Dec 13, 2022
Chromosome 2q37 deletion syndrome5Dec 13, 2022
Chronic atrial and intestinal dysrhythmia1Dec 13, 2022
Chronic infantile neurological, cutaneous and articular syndrome68Dec 13, 2022
Chronic myelogenous leukemia, BCR-ABL1 positive6Dec 13, 2022
Chronic pulmonary obstruction1Nov 14, 2018
Chudley-McCullough syndrome7Dec 13, 2022
Chuvash polycythemia49Dec 13, 2022
Chylomicron retention disease1Dec 13, 2022
Chédiak-Higashi syndrome46Dec 13, 2022
Ciliary dyskinesia3Nov 14, 2018
Ciliary dyskinesia, primary, 3726Dec 13, 2022
Ciliary dyskinesia, primary, 394Dec 13, 2022
Ciliary dyskinesia, primary, 4015Dec 13, 2022
Ciliary dyskinesia, primary, 421Dec 13, 2022
Ciliary dyskinesia, primary, 462Dec 13, 2022
Citrullinemia type I18Dec 13, 2022
Citrullinemia type II1Nov 14, 2018
Citrullinemia, type II, adult-onset10Dec 13, 2022
Clark-Baraitser syndrome1Dec 13, 2022
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency17Dec 13, 2022
Classic dopamine transporter deficiency syndrome12Dec 13, 2022
Classic homocystinuria42Dec 13, 2022
Cleft palate with or without ankyloglossia, X-linked2Dec 13, 2022
Cleidocranial dysostosis5Dec 13, 2022
Cobalamin C disease67Dec 13, 2022
Cockayne syndrome type 17Dec 13, 2022
Cockayne syndrome type 228Dec 13, 2022
Coenzyme Q10 deficiency, primary, 137Dec 13, 2022
Coenzyme Q10 deficiency, primary, 317Dec 13, 2022
Coffin-Lowry syndrome2Dec 13, 2022
Coffin-Siris syndrome 116Dec 13, 2022
Coffin-Siris syndrome 52Dec 13, 2022
Coffin-Siris syndrome 64Dec 13, 2022
Coffin-Siris syndrome 71Dec 13, 2022
Coffin-Siris syndrome 82Dec 13, 2022
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome4Dec 13, 2022
Cognitive impairment with or without cerebellar ataxia12Dec 13, 2022
Cohen syndrome72Dec 13, 2022
Cold-induced sweating syndrome 11Dec 13, 2022
Cole-Carpenter syndrome 11Dec 13, 2022
Cole-Carpenter syndrome 23Dec 13, 2022
Coloboma of optic nerve4Dec 13, 2022
Coloboma, ocular, autosomal dominant2Dec 13, 2022
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness8Dec 13, 2022
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome1Nov 14, 2018
Colorectal cancer339Dec 13, 2022
Colorectal cancer, hereditary nonpolyposis, type 266Dec 13, 2022
Colorectal cancer, hereditary nonpolyposis, type 640Dec 13, 2022
Colorectal cancer, hereditary nonpolyposis, type 77Dec 13, 2022
Colorectal cancer, susceptibility to, 18Dec 13, 2022
Colorectal cancer, susceptibility to, 1053Dec 13, 2022
Colorectal cancer, susceptibility to, 12114Dec 13, 2022
Combined deficiency of sialidase AND beta galactosidase4Dec 13, 2022
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia3Dec 13, 2022
Combined immunodeficiency due to CD3gamma deficiency3Dec 13, 2022
Combined immunodeficiency due to DOCK8 deficiency6Dec 13, 2022
Combined immunodeficiency due to LRBA deficiency14Dec 13, 2022
Combined immunodeficiency due to MALT1 deficiency3Dec 13, 2022
Combined immunodeficiency due to ORAI1 deficiency4Dec 13, 2022
Combined immunodeficiency due to OX40 deficiency2Dec 13, 2022
Combined immunodeficiency due to STIM1 deficiency5Dec 13, 2022
Combined immunodeficiency due to ZAP70 deficiency4Dec 13, 2022
Combined immunodeficiency due to partial RAG1 deficiency14Dec 13, 2022
Combined immunodeficiency with faciooculoskeletal anomalies8Dec 13, 2022
Combined immunodeficiency with skin granulomas21Dec 13, 2022
Combined immunodeficiency, X-linked2Dec 13, 2022
Combined malonic and methylmalonic acidemia26Dec 13, 2022
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 126Dec 13, 2022
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 211Dec 13, 2022
Combined oxidative phosphorylation defect type 1123Dec 13, 2022
Combined oxidative phosphorylation defect type 132Dec 13, 2022
Combined oxidative phosphorylation defect type 143Dec 13, 2022
Combined oxidative phosphorylation defect type 153Dec 13, 2022
Combined oxidative phosphorylation defect type 178Dec 13, 2022
Combined oxidative phosphorylation defect type 201Dec 13, 2022
Combined oxidative phosphorylation defect type 211Dec 13, 2022
Combined oxidative phosphorylation defect type 232Dec 13, 2022
Combined oxidative phosphorylation defect type 251Dec 13, 2022
Combined oxidative phosphorylation defect type 261Dec 13, 2022
Combined oxidative phosphorylation defect type 278Dec 13, 2022
Combined oxidative phosphorylation defect type 41Dec 13, 2022
Combined oxidative phosphorylation defect type 71Dec 13, 2022
Combined oxidative phosphorylation defect type 83Dec 13, 2022
Combined oxidative phosphorylation deficiency 291Dec 13, 2022
Combined oxidative phosphorylation deficiency 391Dec 13, 2022
Combined oxidative phosphorylation deficiency 4438Dec 13, 2022
Combined oxidative phosphorylation deficiency 552Dec 13, 2022
Complement component 2 deficiency6Dec 13, 2022
Complement component 3 deficiency98Dec 13, 2022
Complement component 5 deficiency98Dec 13, 2022
Complement component 6 deficiency15Dec 13, 2022
Complement component 7 deficiency11Dec 13, 2022
Complement component 9 deficiency6Dec 13, 2022
Complement component C1s deficiency4Dec 13, 2022
Complement factor b deficiency8Dec 13, 2022
Complete trisomy 21 syndrome6Dec 13, 2022
Complex cortical dysplasia with other brain malformations 11Nov 14, 2018
Complex cortical dysplasia with other brain malformations 31Dec 13, 2022
Complex cortical dysplasia with other brain malformations 41Dec 13, 2022
Complex cortical dysplasia with other brain malformations 53Dec 13, 2022
Complex cortical dysplasia with other brain malformations 73Dec 13, 2022
Compton-North congenital myopathy2Dec 13, 2022
Cone dystrophy 43Dec 13, 2022
Cone dystrophy with supernormal rod response4Dec 13, 2022
Cone-rod dystrophy 103Dec 13, 2022
Cone-rod dystrophy 1210Dec 13, 2022
Cone-rod dystrophy 136Dec 13, 2022
Cone-rod dystrophy 153Dec 13, 2022
Cone-rod dystrophy 1621Dec 13, 2022
Cone-rod dystrophy 22Dec 13, 2022
Cone-rod dystrophy 363Dec 13, 2022
Cone-rod dystrophy 55Dec 13, 2022
Cone-rod dystrophy 616Dec 13, 2022
Cone-rod dystrophy and hearing loss 14Dec 13, 2022
Cone-rod dystrophy and hearing loss 21Dec 13, 2022
Cone-rod synaptic disorder syndrome, congenital nonprogressive2Dec 13, 2022
Congenital absence of salivary gland1Dec 13, 2022
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency11Dec 13, 2022
Congenital adrenal hypoplasia, X-linked14Dec 13, 2022
Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency14Dec 13, 2022
Congenital afibrinogenemia19Dec 13, 2022
Congenital amegakaryocytic thrombocytopenia18Dec 13, 2022
Congenital anomalies of kidney and urinary tract 21Dec 13, 2022
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay3Dec 13, 2022
Congenital bilateral aplasia of vas deferens from CFTR mutation165Dec 13, 2022
Congenital bile acid synthesis defect 12Dec 13, 2022
Congenital bile acid synthesis defect 21Dec 13, 2022
Congenital bile acid synthesis defect 33Dec 13, 2022
Congenital bile acid synthesis defect 45Dec 13, 2022
Congenital bile acid synthesis defect 61Dec 13, 2022
Congenital cataract-hearing loss-severe developmental delay syndrome2Dec 13, 2022
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome3Dec 13, 2022
Congenital cataracts-facial dysmorphism-neuropathy syndrome3Dec 13, 2022
Congenital central hypoventilation14Nov 14, 2018
Congenital contractural arachnodactyly37Dec 13, 2022
Congenital contractures of the limbs and face, hypotonia, and developmental delay8Dec 13, 2022
Congenital defect of folate absorption6Dec 13, 2022
Congenital diarrhea 5 with tufting enteropathy10Dec 13, 2022
Congenital diarrhea 7 with exudative enteropathy1Nov 14, 2018
Congenital disorder of deglycosylation5Nov 14, 2018
Congenital disorder of deglycosylation 15Dec 13, 2022
Congenital disorder of glycosylation type 1E1Dec 13, 2022
Congenital disorder of glycosylation type Ir2Dec 13, 2022
Congenital disorder of glycosylation, type ICC1Dec 13, 2022
Congenital disorder of glycosylation, type IIq1Dec 13, 2022
Congenital disorder of glycosylation, type IIr2Dec 13, 2022
Congenital disorder of glycosylation, type IIw59Dec 13, 2022
Congenital disorder of glycosylation, type Iw, autosomal dominant1Dec 13, 2022
Congenital disorder of glycosylation, type iit1Dec 13, 2022
Congenital dyserythropoietic anemia type 42Dec 13, 2022
Congenital dyserythropoietic anemia, type II5Dec 13, 2022
Congenital factor VII deficiency9Dec 13, 2022
Congenital fibrosis of extraocular muscles type 13Dec 13, 2022
Congenital generalized lipodystrophy type 130Dec 13, 2022
Congenital generalized lipodystrophy type 243Dec 13, 2022
Congenital generalized lipodystrophy type 310Dec 13, 2022
Congenital glucose-galactose malabsorption36Dec 13, 2022
Congenital heart defects and ectodermal dysplasia2Dec 13, 2022
Congenital heart defects and skeletal malformations syndrome5Dec 13, 2022
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder6Dec 13, 2022
Congenital heart defects, multiple types, 23Dec 13, 2022
Congenital heart defects, multiple types, 41Dec 13, 2022
Congenital heart defects, multiple types, 62Dec 13, 2022
Congenital hereditary endothelial dystrophy of cornea10Dec 13, 2022
Congenital hyperammonemia, type I26Dec 13, 2022
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies3Dec 13, 2022
Congenital hypotrichosis with juvenile macular dystrophy3Dec 13, 2022
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome3Dec 13, 2022
Congenital lactase deficiency5Dec 13, 2022
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type18Dec 13, 2022
Congenital lipoid adrenal hyperplasia due to STAR deficency26Dec 13, 2022
Congenital macrodactylia5Dec 13, 2022
Congenital malabsorptive diarrhea 42Dec 13, 2022
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome6Dec 13, 2022
Congenital microvillous atrophy8Dec 13, 2022
Congenital multicore myopathy with external ophthalmoplegia516Dec 13, 2022
Congenital muscular dystrophy due to LMNA mutation120Dec 13, 2022
Congenital muscular dystrophy due to integrin alpha-7 deficiency9Dec 13, 2022
Congenital muscular dystrophy with intellectual disability and severe epilepsy2Dec 13, 2022
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome1Dec 13, 2022
Congenital muscular hypertrophy-cerebral syndrome34Dec 13, 2022
Congenital myasthenic syndrome 1012Dec 13, 2022
Congenital myasthenic syndrome 1119Dec 13, 2022
Congenital myasthenic syndrome 122Dec 13, 2022
Congenital myasthenic syndrome 132Dec 13, 2022
Congenital myasthenic syndrome 148Dec 13, 2022
Congenital myasthenic syndrome 151Dec 13, 2022
Congenital myasthenic syndrome 16214Dec 13, 2022
Congenital myasthenic syndrome 17144Dec 13, 2022
Congenital myasthenic syndrome 191Dec 13, 2022
Congenital myasthenic syndrome 1A2Dec 13, 2022
Congenital myasthenic syndrome 203Dec 13, 2022
Congenital myasthenic syndrome 3A5Dec 13, 2022
Congenital myasthenic syndrome 3B5Dec 13, 2022
Congenital myasthenic syndrome 3C5Dec 13, 2022
Congenital myasthenic syndrome 4A24Dec 13, 2022
Congenital myasthenic syndrome 4B24Dec 13, 2022
Congenital myasthenic syndrome 4C26Dec 13, 2022
Congenital myasthenic syndrome 88Dec 13, 2022
Congenital myasthenic syndrome 92Dec 13, 2022
Congenital myopathy with fiber type disproportion735Dec 13, 2022
Congenital myopathy with internal nuclei and atypical cores3Dec 13, 2022
Congenital myopathy with reduced type 2 muscle fibers1Dec 13, 2022
Congenital myotonia, autosomal dominant form19Dec 13, 2022
Congenital myotonia, autosomal recessive form19Dec 13, 2022
Congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome35Dec 13, 2022
Congenital neutropenia-myelofibrosis-nephromegaly syndrome3Dec 13, 2022
Congenital ocular coloboma2Nov 14, 2018
Congenital primary aphakia1Dec 13, 2022
Congenital prothrombin deficiency1Dec 13, 2022
Congenital reticular ichthyosiform erythroderma5Dec 13, 2022
Congenital secretory diarrhea, chloride type3Dec 13, 2022
Congenital sensory neuropathy with selective loss of small myelinated fibers2Dec 13, 2022
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome9Dec 13, 2022
Congenital stationary night blindness 1B2Dec 13, 2022
Congenital stationary night blindness 1C5Dec 13, 2022
Congenital stationary night blindness 1D1Dec 13, 2022
Congenital stationary night blindness 1E5Dec 13, 2022
Congenital stationary night blindness 1G2Dec 13, 2022
Congenital stationary night blindness 2A3Dec 13, 2022
Congenital stationary night blindness autosomal dominant 12Dec 13, 2022
Congenital stationary night blindness autosomal dominant 27Dec 13, 2022
Congenital stationary night blindness autosomal dominant 32Dec 13, 2022
Connective tissue disorder1Nov 14, 2018
Conotruncal heart malformations51Dec 13, 2022
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A5Dec 13, 2022
Contractures, pterygia, and variable skeletal fusions syndrome 1B4Dec 13, 2022
Corneal dystrophy, Fuchs endothelial, 33Dec 13, 2022
Corneal dystrophy, Fuchs endothelial, 410Dec 13, 2022
Corneal dystrophy, Fuchs endothelial, 62Dec 13, 2022
Corneal dystrophy, posterior polymorphous, 43Dec 13, 2022
Corneal dystrophy-perceptive deafness syndrome10Dec 13, 2022
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome8Dec 13, 2022
Cornelia de Lange syndrome 115Dec 13, 2022
Cornelia de Lange syndrome 34Dec 13, 2022
Cornelia de Lange syndrome 45Dec 13, 2022
Cornelia de Lange syndrome 52Dec 13, 2022
Coronary artery disease, autosomal dominant 23Dec 13, 2022
Coronary heart disease, susceptibility to, 71Dec 13, 2022
Corpus callosum agenesis-abnormal genitalia syndrome7Dec 13, 2022
Cortical dysplasia-focal epilepsy syndrome34Dec 13, 2022
Corticosterone 18-monooxygenase deficiency42Dec 13, 2022
Corticosterone methyloxidase type 2 deficiency42Dec 13, 2022
Cortisone reductase deficiency 12Dec 13, 2022
Costello syndrome15Dec 13, 2022
Cowden syndrome 142Dec 13, 2022
Cowden syndrome 55Dec 13, 2022
Cowden syndrome 61Dec 13, 2022
Cowden syndrome 75Dec 13, 2022
Cranioectodermal dysplasia 185Dec 13, 2022
Cranioectodermal dysplasia 24Dec 13, 2022
Cranioectodermal dysplasia 337Dec 13, 2022
Cranioectodermal dysplasia 4114Dec 13, 2022
Craniofacial anomalies and anterior segment dysgenesis syndrome2Dec 13, 2022
Craniofacial-deafness-hand syndrome4Dec 13, 2022
Craniometaphyseal dysplasia, autosomal dominant3Dec 13, 2022
Craniometaphyseal dysplasia, autosomal recessive3Dec 13, 2022
Craniosynostosis 5, susceptibility to2Dec 13, 2022
Craniosynostosis 74Dec 13, 2022
Creatine transporter deficiency5Dec 13, 2022
Crigler-Najjar syndrome type 110Dec 13, 2022
Crigler-Najjar syndrome, type II10Dec 13, 2022
Cromer blood group system3Dec 13, 2022
Crouzon syndrome55Dec 13, 2022
Crouzon syndrome-acanthosis nigricans syndrome26Dec 13, 2022
Cryohydrocytosis48Dec 13, 2022
Cryptorchidism1Dec 13, 2022
Cryptosporidiosis-chronic cholangitis-liver disease syndrome2Dec 13, 2022
Curly hair, ankyloblepharon, nail dysplasia syndrome1Dec 13, 2022
Currarino triad21Dec 13, 2022
Curry-Hall syndrome49Dec 13, 2022
Curry-Jones syndrome1Dec 13, 2022
Cushing syndrome2Nov 14, 2018
Cutaneous mastocytosis4Dec 13, 2022
Cutis laxa with osteodystrophy16Dec 13, 2022
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies7Dec 13, 2022
Cutis laxa, X-linked10Dec 13, 2022
Cutis laxa, autosomal dominant 118Dec 13, 2022
Cutis laxa, autosomal dominant 22Dec 13, 2022
Cutis laxa, autosomal dominant 34Dec 13, 2022
Cutis laxa, autosomal recessive, type 1A2Dec 13, 2022
Cutis laxa, autosomal recessive, type 1B6Dec 13, 2022
Cyclical neutropenia5Dec 13, 2022
Cystic fibrosis167Dec 13, 2022
Cystinuria81Dec 13, 2022
Cytochrome-c oxidase deficiency disease13Dec 13, 2022
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder1Dec 13, 2022
Czech dysplasia, metatarsal type26Dec 13, 2022
D-2-hydroxyglutaric aciduria 13Dec 13, 2022
D-2-hydroxyglutaric aciduria 23Dec 13, 2022
DDX41-related hematologic malignancy predisposition syndrome2Dec 13, 2022
DE SANCTIS-CACCHIONE SYNDROME28Dec 13, 2022
DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES107Dec 13, 2022
DICER1 syndrome11Nov 14, 2018
DK1-congenital disorder of glycosylation36Dec 13, 2022
DNA ligase IV deficiency10Dec 13, 2022
DOCK2 deficiency3Dec 13, 2022
DOORS syndrome13Dec 13, 2022
DPAGT1-congenital disorder of glycosylation2Dec 13, 2022
DYRK1A-related intellectual disability syndrome2Dec 13, 2022
Dalmatian hypouricemia26Dec 13, 2022
Danon disease25Dec 13, 2022
Deafness with labyrinthine aplasia, microtia, and microdontia1Nov 14, 2018
Deafness, X-linked 57Dec 13, 2022
Deafness, Y-linked 21Dec 13, 2022
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 13Dec 13, 2022
Deafness, congenital heart defects, and posterior embryotoxon112Dec 13, 2022
Deafness, congenital, and adult-onset progressive leukoencephalopathy2Dec 13, 2022
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome21Dec 13, 2022
Deafness-infertility syndrome4Dec 13, 2022
Deafness-lymphedema-leukemia syndrome9Dec 13, 2022
Deeah syndrome1Dec 13, 2022
Deficiency of 2-methylbutyryl-CoA dehydrogenase5Dec 13, 2022
Deficiency of 3-hydroxyacyl-CoA dehydrogenase5Dec 13, 2022
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase20Dec 13, 2022
Deficiency of acetyl-CoA acetyltransferase17Dec 13, 2022
Deficiency of alpha-mannosidase29Dec 13, 2022
Deficiency of aromatic-L-amino-acid decarboxylase2Dec 13, 2022
Deficiency of beta-ureidopropionase6Dec 13, 2022
Deficiency of butyryl-CoA dehydrogenase17Dec 13, 2022
Deficiency of butyrylcholinesterase6Dec 13, 2022
Deficiency of cytochrome-b5 reductase5Dec 13, 2022
Deficiency of ferroxidase14Dec 13, 2022
Deficiency of galactokinase3Dec 13, 2022
Deficiency of guanidinoacetate methyltransferase20Dec 13, 2022
Deficiency of hydroxymethylglutaryl-CoA lyase9Dec 13, 2022
Deficiency of iodide peroxidase10Dec 13, 2022
Deficiency of isobutyryl-CoA dehydrogenase2Dec 13, 2022
Deficiency of malonyl-CoA decarboxylase4Dec 13, 2022
Deficiency of pyrroline-5-carboxylate reductase7Dec 13, 2022
Deficiency of steroid 11-beta-monooxygenase56Dec 13, 2022
Deficiency of steroid 17-alpha-monooxygenase27Dec 13, 2022
Dehydrated hereditary stomatocytosis 21Dec 13, 2022
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema18Dec 13, 2022
Dejerine-Sottas disease16Dec 13, 2022
Delpire-McNeill syndrome31Dec 13, 2022
Dent disease type 122Dec 13, 2022
Dent disease type 225Dec 13, 2022
Dentatorubral-pallidoluysian atrophy3Dec 13, 2022
Denticles3Dec 13, 2022
Dentinogenesis imperfecta type 23Dec 13, 2022
Dentinogenesis imperfecta type 33Dec 13, 2022
Dermatitis, atopic, 29Dec 13, 2022
Dermatofibrosis lenticularis disseminata1Dec 13, 2022
Dermatopathia pigmentosa reticularis6Dec 13, 2022
Desbuquois dysplasia 11Dec 13, 2022
Desbuquois dysplasia 22Dec 13, 2022
Desmin-related myofibrillar myopathy56Dec 13, 2022
Desmoid disease, hereditary93Dec 13, 2022
Desmosterolosis4Dec 13, 2022
Developmental and epileptic encephalopathy 1011Dec 13, 2022
Developmental and epileptic encephalopathy 6B20Dec 13, 2022
Developmental and epileptic encephalopathy 9413Dec 13, 2022
Developmental and epileptic encephalopathy 987Dec 13, 2022
Developmental and epileptic encephalopathy 9915Dec 13, 2022
Developmental and epileptic encephalopathy, 17Dec 13, 2022
Developmental and epileptic encephalopathy, 1120Dec 13, 2022
Developmental and epileptic encephalopathy, 126Dec 13, 2022
Developmental and epileptic encephalopathy, 1312Dec 13, 2022
Developmental and epileptic encephalopathy, 1416Dec 13, 2022
Developmental and epileptic encephalopathy, 154Dec 13, 2022
Developmental and epileptic encephalopathy, 1613Dec 13, 2022
Developmental and epileptic encephalopathy, 175Dec 13, 2022
Developmental and epileptic encephalopathy, 1824Dec 13, 2022
Developmental and epileptic encephalopathy, 191Dec 13, 2022
Developmental and epileptic encephalopathy, 25Dec 13, 2022
Developmental and epileptic encephalopathy, 239Dec 13, 2022
Developmental and epileptic encephalopathy, 242Dec 13, 2022
Developmental and epileptic encephalopathy, 255Dec 13, 2022
Developmental and epileptic encephalopathy, 266Dec 13, 2022
Developmental and epileptic encephalopathy, 277Dec 13, 2022
Developmental and epileptic encephalopathy, 2816Dec 13, 2022
Developmental and epileptic encephalopathy, 299Dec 13, 2022
Developmental and epileptic encephalopathy, 31Dec 13, 2022
Developmental and epileptic encephalopathy, 3010Dec 13, 2022
Developmental and epileptic encephalopathy, 316Dec 13, 2022
Developmental and epileptic encephalopathy, 323Dec 13, 2022
Developmental and epileptic encephalopathy, 335Dec 13, 2022
Developmental and epileptic encephalopathy, 346Dec 13, 2022
Developmental and epileptic encephalopathy, 352Dec 13, 2022
Developmental and epileptic encephalopathy, 3679Dec 13, 2022
Developmental and epileptic encephalopathy, 391Nov 14, 2018
Developmental and epileptic encephalopathy, 48Dec 13, 2022
Developmental and epileptic encephalopathy, 4247Dec 13, 2022
Developmental and epileptic encephalopathy, 432Nov 14, 2018
Developmental and epileptic encephalopathy, 441Dec 13, 2022
Developmental and epileptic encephalopathy, 461Dec 13, 2022
Developmental and epileptic encephalopathy, 472Dec 13, 2022
Developmental and epileptic encephalopathy, 482Dec 13, 2022
Developmental and epileptic encephalopathy, 491Dec 13, 2022
Developmental and epileptic encephalopathy, 521Dec 13, 2022
Developmental and epileptic encephalopathy, 501Dec 13, 2022
Developmental and epileptic encephalopathy, 511Dec 13, 2022
Developmental and epileptic encephalopathy, 5226Dec 13, 2022
Developmental and epileptic encephalopathy, 532Dec 13, 2022
Developmental and epileptic encephalopathy, 546Dec 13, 2022
Developmental and epileptic encephalopathy, 561Dec 13, 2022
Developmental and epileptic encephalopathy, 588Dec 13, 2022
Developmental and epileptic encephalopathy, 593Dec 13, 2022
Developmental and epileptic encephalopathy, 611Dec 13, 2022
Developmental and epileptic encephalopathy, 6212Dec 13, 2022
Developmental and epileptic encephalopathy, 641Dec 13, 2022
Developmental and epileptic encephalopathy, 656Dec 13, 2022
Developmental and epileptic encephalopathy, 663Dec 13, 2022
Developmental and epileptic encephalopathy, 674Dec 13, 2022
Developmental and epileptic encephalopathy, 682Dec 13, 2022
Developmental and epileptic encephalopathy, 699Dec 13, 2022
Developmental and epileptic encephalopathy, 716Dec 13, 2022
Developmental and epileptic encephalopathy, 741Dec 13, 2022
Developmental and epileptic encephalopathy, 791Dec 13, 2022
Developmental and epileptic encephalopathy, 82Dec 13, 2022
Developmental and epileptic encephalopathy, 815Dec 13, 2022
Developmental and epileptic encephalopathy, 85, with or without midline brain defects33Dec 13, 2022
Developmental and epileptic encephalopathy, 871Dec 13, 2022
Developmental and epileptic encephalopathy, 911Dec 13, 2022
Developmental delay and seizures with or without movement abnormalities5Dec 13, 2022
Developmental delay with autism spectrum disorder and gait instability5Dec 13, 2022
Developmental delay with or without dysmorphic facies and autism2Dec 13, 2022
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy4Dec 13, 2022
Developmental malformations-deafness-dystonia syndrome29Dec 13, 2022
DiGeorge syndrome9Dec 13, 2022
Diabetes insipidus, nephrogenic, X-linked18Dec 13, 2022
Diabetes insipidus, nephrogenic, autosomal13Dec 13, 2022
Diabetes mellitus type 161Dec 13, 2022
Diabetes mellitus, ketosis-prone16Dec 13, 2022
Diabetes mellitus, permanent neonatal 227Dec 13, 2022
Diabetes mellitus, permanent neonatal 3117Dec 13, 2022
Diabetes mellitus, permanent neonatal 49Dec 13, 2022
Diabetes mellitus, transient neonatal, 11Dec 13, 2022
Diabetes mellitus, transient neonatal, 2124Dec 13, 2022
Diabetes mellitus, transient neonatal, 330Dec 13, 2022
Diamond-Blackfan anemia 114Dec 13, 2022
Diamond-Blackfan anemia 1015Dec 13, 2022
Diamond-Blackfan anemia 116Dec 13, 2022
Diamond-Blackfan anemia 121Dec 13, 2022
Diamond-Blackfan anemia 131Dec 13, 2022
Diamond-Blackfan anemia 39Dec 13, 2022
Diamond-Blackfan anemia 42Dec 13, 2022
Diamond-Blackfan anemia 55Dec 13, 2022
Diamond-Blackfan anemia 628Dec 13, 2022
Diamond-Blackfan anemia 77Dec 13, 2022
Diamond-Blackfan anemia 89Dec 13, 2022
Diamond-Blackfan anemia 99Dec 13, 2022
Diaphragmatic hernia 32Dec 13, 2022
Diaphyseal dysplasia2Dec 13, 2022
Dias-Logan syndrome1Dec 13, 2022
Diastrophic dysplasia11Dec 13, 2022
Diets-Jongmans syndrome1Jul 27, 2020
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome6Dec 13, 2022
Diffuse nonepidermolytic palmoplantar keratoderma1Dec 13, 2022
Dihydropteridine reductase deficiency4Dec 13, 2022
Dihydropyrimidine dehydrogenase deficiency18Dec 13, 2022
Dilated Cardiomyopathy, Dominant1Nov 14, 2018
Dilated cardiomyopathy 1A120Dec 13, 2022
Dilated cardiomyopathy 1AA85Dec 13, 2022
Dilated cardiomyopathy 1BB101Dec 13, 2022
Dilated cardiomyopathy 1C67Dec 13, 2022
Dilated cardiomyopathy 1CC58Dec 13, 2022
Dilated cardiomyopathy 1D33Dec 13, 2022
Dilated cardiomyopathy 1DD115Dec 13, 2022
Dilated cardiomyopathy 1E195Dec 13, 2022
Dilated cardiomyopathy 1EE230Dec 13, 2022
Dilated cardiomyopathy 1FF22Dec 13, 2022
Dilated cardiomyopathy 1G1285Dec 13, 2022
Dilated cardiomyopathy 1GG69Dec 13, 2022
Dilated cardiomyopathy 1HH62Dec 13, 2022
Dilated cardiomyopathy 1I56Dec 13, 2022
Dilated cardiomyopathy 1II15Dec 13, 2022
Dilated cardiomyopathy 1J29Dec 13, 2022
Dilated cardiomyopathy 1JJ127Dec 13, 2022
Dilated cardiomyopathy 1KK97Dec 13, 2022
Dilated cardiomyopathy 1L80Dec 13, 2022
Dilated cardiomyopathy 1M35Dec 13, 2022
Dilated cardiomyopathy 1NN21Dec 13, 2022
Dilated cardiomyopathy 1O46Dec 13, 2022
Dilated cardiomyopathy 1P15Dec 13, 2022
Dilated cardiomyopathy 1R13Dec 13, 2022
Dilated cardiomyopathy 1S204Dec 13, 2022
Dilated cardiomyopathy 1U6Dec 13, 2022
Dilated cardiomyopathy 1V12Dec 13, 2022
Dilated cardiomyopathy 1W101Dec 13, 2022
Dilated cardiomyopathy 1X54Dec 13, 2022
Dilated cardiomyopathy 1Y22Dec 13, 2022
Dilated cardiomyopathy 1Z9Dec 13, 2022
Dilated cardiomyopathy 2A22Dec 13, 2022
Dilated cardiomyopathy 2B10Dec 13, 2022
Dilated cardiomyopathy 3B145Dec 13, 2022
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome120Dec 13, 2022
Distal arthrogryposis type 2B12Dec 13, 2022
Distal arthrogryposis type 5D1Dec 13, 2022
Distal myopathy with anterior tibial onset53Dec 13, 2022
Distal myopathy with posterior leg and anterior hand involvement131Dec 13, 2022
Distal myopathy, Tateyama type24Dec 13, 2022
Distichiasis-lymphedema syndrome4Dec 13, 2022
Dominant beta-thalassemia50Dec 13, 2022
Dominant dystrophic epidermolysis bullosa with absence of skin68Dec 13, 2022
Donnai-Barrow syndrome376Dec 13, 2022
Dopa-responsive dystonia due to sepiapterin reductase deficiency4Dec 13, 2022
Dopamine beta-hydroxylase deficiency1Dec 13, 2022
Dowling-Degos disease 13Dec 13, 2022
Doyne honeycomb retinal dystrophy1Dec 13, 2022
Drash syndrome60Dec 13, 2022
Duane retraction syndrome 3 with or without deafness8Dec 13, 2022
Duane-radial ray syndrome34Dec 13, 2022
Dubin-Johnson syndrome11Dec 13,