U.S. flag

An official website of the United States government

Mendelics

General information

Mendelics

Avenida Braz Leme 1631
Casa Verde
Sao Paulo
Sao Paulo
Brazil - 02511-000
http://www.mendelics.com/en
Organization ID: 500035

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 12770

Gene

GeneSubmissionsLast Updated
A2ML13May 21, 2022
AAAS3May 21, 2022
AAGAB1Oct 22, 2019
AARS16May 21, 2022
AARS26May 21, 2022
ABCA11Nov 14, 2023
ABCA121Oct 22, 2019
ABCA34Aug 22, 2023
ABCA465Jan 18, 2024
ABCA71Apr 11, 2023
ABCB115May 21, 2022
ABCB424May 8, 2023
ABCB63May 21, 2022
ABCC21Oct 22, 2019
ABCC67Jun 19, 2023
ABCC811Aug 22, 2023
ABCC94May 21, 2022
ABCD128May 21, 2022
ABCD42Oct 22, 2019
ABCG53Oct 22, 2019
ABCG81Oct 22, 2019
ABHD14A-ACY12Oct 22, 2019
ACAD92Oct 22, 2019
ACADM7May 21, 2022
ACADS2Aug 22, 2023
ACADSB1Oct 22, 2019
ACADVL12May 21, 2022
ACAN8May 21, 2022
ACAT11Oct 22, 2019
ACBD65May 21, 2022
ACD1Oct 22, 2019
ACO24Oct 22, 2019
ACOX13May 21, 2022
ACP51Oct 22, 2019
ACTA15May 21, 2022
ACTA21Oct 22, 2019
ACTA2-AS11Oct 22, 2019
ACTB2Mar 11, 2023
ACTC11May 24, 2022
ACTG13May 21, 2022
ACTG21Oct 22, 2019
ACTL6B2May 21, 2022
ACTN21Oct 22, 2019
ACVR11May 21, 2022
ACVR2B1Oct 22, 2019
ACVRL12Oct 22, 2019
ACY12Oct 22, 2019
ACYP12Oct 29, 2019
ADA3May 21, 2022
ADA22Oct 22, 2019
ADAM101May 21, 2022
ADAMTS102May 21, 2022
ADAMTS136May 21, 2022
ADAMTS181Oct 22, 2019
ADAMTS23May 21, 2022
ADAMTSL12May 21, 2022
ADAMTSL23May 21, 2022
ADAMTSL44May 21, 2022
ADAMTSL4-AS24May 21, 2022
ADAR4Oct 22, 2019
ADCY514Apr 10, 2023
ADGRE244May 21, 2022
ADGRG62Oct 22, 2019
ADGRV118Aug 22, 2023
ADK2Oct 22, 2019
ADNP9May 21, 2022
ADNP-AS11May 21, 2022
ADPRS2Oct 22, 2019
ADSL6May 21, 2022
ADSS11May 21, 2022
AFF24May 21, 2022
AFF43May 21, 2022
AGA1Oct 22, 2019
AGAP21May 21, 2022
AGBL13Dec 12, 2023
AGL14May 21, 2022
AGO12May 21, 2022
AGO32May 21, 2022
AGPAT23May 21, 2022
AGRN2Oct 22, 2019
AGTR12May 21, 2022
AGXT6Oct 22, 2019
AHDC16May 21, 2022
AHI17Dec 21, 2023
AICDA1Oct 22, 2019
AIFM12Oct 22, 2019
AIMP11May 21, 2022
AIMP22May 21, 2022
AIP2Oct 22, 2019
AIPL13Oct 22, 2019
AIRE4May 21, 2022
AKR1C22May 21, 2022
AKR1D11Oct 22, 2019
AKT112Jan 23, 2024
AKT21May 21, 2022
AKT31May 21, 2022
ALAD1May 21, 2022
ALAS24Oct 6, 2022
ALB1Oct 22, 2019
ALDH18A11May 21, 2022
ALDH1A21May 21, 2022
ALDH3A24May 21, 2022
ALDH5A11Oct 22, 2019
ALDH7A16Apr 21, 2023
ALDOA2Oct 22, 2019
ALDOB3May 21, 2022
ALG14Oct 22, 2019
ALG111May 21, 2022
ALG133May 21, 2022
ALG61Oct 22, 2019
ALG91Oct 22, 2019
ALK4May 21, 2022
ALMS111May 21, 2022
ALOX12B2May 21, 2022
ALPL2May 21, 2022
ALS23Oct 22, 2019
ALX11Oct 22, 2019
AMACR4Oct 22, 2019
AMD11May 21, 2022
AMER13Oct 22, 2019
AMH1Oct 22, 2019
AMPD12May 21, 2022
AMT4Oct 22, 2019
ANAPC151Oct 22, 2019
ANG2Oct 29, 2019
ANK13Oct 22, 2019
ANK26May 21, 2022
ANK35May 21, 2022
ANKH1May 21, 2022
ANKLE21Oct 22, 2019
ANKRD119May 21, 2022
ANKRD262May 21, 2022
ANLN1Oct 22, 2019
ANO514Dec 12, 2022
ANO71May 21, 2022
ANOS14May 21, 2022
ANTXR21Oct 22, 2019
ANXA111Oct 22, 2019
AOPEP34Apr 10, 2024
AP3B21Oct 22, 2019
AP4B12May 21, 2022
AP4B1-AS12May 21, 2022
AP4E11Oct 22, 2019
AP4S11May 21, 2022
AP5Z11Oct 22, 2019
APBA21May 21, 2022
APC242Apr 10, 2024
APOA58May 21, 2022
APOB17Sep 10, 2023
APOC21May 21, 2022
APOC4-APOC21May 21, 2022
APOL13Mar 24, 2023
APP1May 21, 2022
APTX2Oct 22, 2019
AR21Feb 28, 2024
ARCN11May 21, 2022
AREL12Oct 29, 2019
ARF11May 21, 2022
ARFGEF1-DT1Oct 22, 2019
ARFGEF22Oct 22, 2019
ARG15Sep 27, 2022
ARHGAP241May 21, 2022
ARHGAP312May 21, 2022
ARHGEF62Oct 22, 2019
ARHGEF91Oct 22, 2019
ARID1A8May 21, 2022
ARID1B14May 21, 2022
ARID23May 21, 2022
ARID4A2May 21, 2022
ARL13B3Oct 22, 2019
ARL61May 21, 2022
ARMC53Apr 10, 2024
ARNT22Oct 29, 2019
ARPC1B2Oct 22, 2019
ARSA8May 21, 2022
ARSB6May 21, 2022
ARSL1May 21, 2022
ARX9May 21, 2022
ASAH13May 21, 2022
ASCC12Oct 22, 2019
ASCL12Jan 23, 2024
ASH1L2May 21, 2022
ASL4May 21, 2022
ASNS3Oct 22, 2019
ASPHD11May 21, 2022
ASS14May 21, 2022
ASTN22Oct 22, 2019
ASXL15May 21, 2022
ASXL21Oct 22, 2019
ASXL35May 21, 2022
ATAD3A2May 21, 2022
ATF65Oct 22, 2019
ATG71Jan 23, 2024
ATIC2Oct 22, 2019
ATL17May 21, 2022
ATM394Apr 10, 2024
ATN11May 21, 2022
ATP13A23May 21, 2022
ATP1A11May 21, 2022
ATP1A1-AS11May 21, 2022
ATP1A26May 21, 2022
ATP1A312May 21, 2022
ATP2A24May 21, 2022
ATP2C11May 21, 2022
ATP4A1May 21, 2022
ATP5ME1Oct 22, 2019
ATP6AP21May 21, 2022
ATP6V0A46May 21, 2022
ATP6V1B12Oct 22, 2019
ATP6V1B21Jun 16, 2019
ATP7A16Aug 22, 2023
ATP7B27Dec 26, 2023
ATP8A23May 21, 2022
ATP8B16Jun 19, 2023
ATP8B1-AS13May 21, 2022
ATR5May 21, 2022
ATRIP1Oct 22, 2019
ATRIP-TREX11Oct 22, 2019
ATRX5May 21, 2022
ATXN11Jan 23, 2024
ATXN21Oct 22, 2019
AUTS24May 21, 2022
AVPR26May 21, 2022
AXDND12May 21, 2022
AXIN25Oct 22, 2019
B2M1Oct 22, 2019
B3GALNT22Oct 22, 2019
B3GAT33Oct 29, 2019
B4GALNT12May 21, 2022
B4GALT11Oct 22, 2019
B4GALT1-AS11Oct 22, 2019
B4GALT71Oct 22, 2019
BAG35Oct 22, 2019
BAP118Jan 23, 2024
BARD190Apr 10, 2024
BBS13Oct 22, 2019
BBS103Oct 22, 2019
BBS23Oct 22, 2019
BBS41Oct 22, 2019
BBS51May 21, 2022
BBS93May 21, 2022
BCAP311Oct 22, 2019
BCKDHA2May 21, 2022
BCKDHB6May 21, 2022
BCL11A2May 21, 2022
BCL11B1May 21, 2022
BCL2L2-PABPN13Oct 22, 2019
BCO11May 21, 2022
BCOR1May 21, 2022
BCORL13May 21, 2022
BCS1L5May 21, 2022
BDNF1Oct 22, 2019
BDNF-AS1Oct 22, 2019
BDNF-AS11Oct 22, 2019
BEST15May 21, 2022
BICD23Sep 28, 2022
BICRA4May 21, 2022
BIVM1May 21, 2022
BIVM-ERCC58May 21, 2022
BLK4May 21, 2022
BLM98Apr 10, 2024
BLOC1S1-RDH52May 21, 2022
BMP157May 21, 2022
BMP21Oct 22, 2019
BMP43May 21, 2022
BMPR1A4May 21, 2022
BMPR22May 21, 2022
BPTF3May 21, 2022
BRAF10May 21, 2022
BRAT11Jun 21, 2015
BRCA1290Apr 10, 2024
BRCA2491Apr 10, 2024
BRD42May 21, 2022
BRIP1117Apr 10, 2024
BRPF15May 21, 2022
BRWD33Jul 18, 2020
BSCL26May 21, 2022
BSND2May 21, 2022
BTD20May 21, 2022
BTK9May 21, 2022
BUB1B6Oct 22, 2019
BUB1B-PAK61Oct 22, 2019
C10orf1052Oct 22, 2019
C11orf65158Apr 10, 2024
C12orf431Oct 22, 2019
C12orf571Oct 22, 2019
C12orf603Oct 22, 2019
C14orf391Oct 22, 2019
C17orf1073May 21, 2022
C19orf121Dec 5, 2021
C1QC1May 21, 2022
C1QTNF3-AMACR4Oct 22, 2019
C1QTNF52May 21, 2022
C1S1Oct 22, 2019
C24May 21, 2022
C2-AS11Oct 22, 2019
C2CD31Oct 22, 2019
C2orf881Oct 22, 2019
C33May 21, 2022
C62May 21, 2022
CA21Oct 22, 2019
CABIN14May 21, 2022
CABP41Oct 22, 2019
CACNA1A21Aug 22, 2023
CACNA1B4May 21, 2022
CACNA1C10Aug 22, 2023
CACNA1C-AS12Oct 22, 2019
CACNA1D5May 21, 2022
CACNA1E4May 21, 2022
CACNA1F5Aug 22, 2023
CACNA1G4May 21, 2022
CACNA1S4Mar 30, 2023
CACNA2D42Dec 29, 2023
CACNB22Oct 22, 2019
CACNB41Oct 22, 2019
CAD3Oct 22, 2019
CAMK2B2May 21, 2022
CAMK2G2May 21, 2022
CAMTA13May 21, 2022
CANT11May 21, 2022
CAPN12Oct 22, 2019
CAPN151May 21, 2022
CAPN35May 21, 2022
CARD111Oct 22, 2019
CARD141Oct 22, 2019
CASD13May 21, 2022
CASK13Apr 11, 2023
CASP106May 21, 2022
CASP82Oct 22, 2019
CASQ12May 21, 2022
CASQ21Oct 22, 2019
CASR12May 21, 2022
CAST1Oct 22, 2019
CASZ11May 21, 2022
CATIP-AS21May 21, 2022
CATSPER22Oct 29, 2019
CAV12May 21, 2022
CAV36Aug 22, 2023
CBL4May 21, 2022
CBS4Oct 22, 2019
CC2D2A7Oct 22, 2019
CCBE11Oct 22, 2019
CCDC221May 21, 2022
CCDC403May 21, 2022
CCDST24May 21, 2022
CCN61May 21, 2022
CCNF2Oct 29, 2019
CCNH1Oct 22, 2019
CD3201Aug 22, 2023
CD462Apr 24, 2024
CD591May 21, 2022
CD631Oct 22, 2019
CDC61Oct 22, 2019
CDC732Apr 8, 2024
CDCA7L1May 21, 2022
CDH178Apr 8, 2024
CDH155May 21, 2022
CDH21May 21, 2022
CDH2319Jan 23, 2024
CDH23-AS11May 21, 2022
CDH31Oct 22, 2019
CDHR15Oct 22, 2019
CDK121May 21, 2022
CDK132May 21, 2022
CDK192May 21, 2022
CDK416Apr 10, 2024
CDKL529Jun 2, 2023
CDKN1B3May 21, 2022
CDKN1C1Oct 22, 2019
CDKN2A43Apr 10, 2024
CDON3May 21, 2022
CDSN2Oct 22, 2019
CDT12Oct 22, 2019
CEBPA1May 21, 2022
CEL1May 21, 2022
CELA2A1May 21, 2022
CELF21May 21, 2022
CELF2-AS11May 21, 2022
CENPJ2Aug 22, 2023
CEP1121May 21, 2022
CEP1201May 21, 2022
CEP1281May 21, 2022
CEP1521Oct 29, 2019
CEP1641May 21, 2022
CEP29016May 21, 2022
CEP571Oct 22, 2019
CEP85L1May 31, 2016
CERKL5Oct 21, 2022
CERS13Oct 29, 2019
CERT12May 21, 2022
CFAP4181Oct 22, 2019
CFAP418-AS11Oct 22, 2019
CFAP961May 21, 2022
CFB4Feb 14, 2023
CFC13May 21, 2022
CFH2Oct 22, 2019
CFHR52May 21, 2022
CFI4May 21, 2022
CFP1May 21, 2022
CFTR355May 23, 2024
CFTR-AS138Jun 19, 2023
CHAT2Oct 22, 2019
CHCHD103Oct 22, 2019
CHD11May 21, 2022
CHD1L1May 21, 2022
CHD211Mar 30, 2023
CHD32May 21, 2022
CHD43May 21, 2022
CHD717May 21, 2022
CHD83May 21, 2022
CHEK2106Mar 27, 2024
CHM10May 21, 2022
CHMP2B1May 21, 2022
CHRNA11May 21, 2022
CHRNA21Aug 22, 2023
CHRNB12May 21, 2022
CHRND3Oct 22, 2019
CHRNE3May 21, 2022
CHRNG1Oct 22, 2019
CHROMR3May 21, 2022
CHST31May 21, 2022
CHST81Oct 22, 2019
CIC5May 21, 2022
CIITA1May 21, 2022
CILK11May 21, 2022
CISD31May 21, 2022
CITED22May 21, 2022
CIZ11Oct 22, 2019
CLCN17May 21, 2022
CLCN23Oct 22, 2019
CLCN53May 21, 2022
CLCN73May 21, 2022
CLCNKA2Oct 22, 2019
CLCNKB11Nov 27, 2023
CLDN161Oct 22, 2019
CLEC7A1Oct 22, 2019
CLIC21May 21, 2022
CLN34May 21, 2022
CLN58Oct 22, 2019
CLN612May 21, 2022
CLN89Apr 28, 2023
CLN8-AS11Oct 22, 2019
CLP11May 21, 2022
CLPB1Oct 22, 2019
CLRN12May 21, 2022
CLTC4May 21, 2022
CNGA13Oct 22, 2019
CNGA34May 21, 2022
CNGB13Oct 22, 2019
CNGB35Oct 22, 2019
CNNM23May 21, 2022
CNNM41Oct 22, 2019
CNOT21May 21, 2022
CNOT33May 21, 2022
CNTN11Oct 22, 2019
CNTN21Oct 22, 2019
CNTNAP11Oct 22, 2019
CNTNAP23Oct 22, 2019
COG11Oct 22, 2019
COG42Oct 22, 2019
COG51Aug 22, 2023
COG62Oct 22, 2019
COL10A17May 21, 2022
COL11A16May 21, 2022
COL11A25May 21, 2022
COL12A12May 21, 2022
COL17A12May 21, 2022
COL18A18May 21, 2022
COL1A121May 21, 2022
COL1A213May 21, 2022
COL2A127Apr 9, 2024
COL3A18May 21, 2022
COL4A16May 21, 2022
COL4A27May 21, 2022
COL4A37Oct 11, 2023
COL4A46Dec 12, 2022
COL4A518Aug 22, 2023
COL5A18May 21, 2022
COL5A23May 21, 2022
COL6A14Oct 22, 2019
COL6A211May 21, 2022
COL6A313May 21, 2022
COL7A126May 21, 2022
COL9A14May 21, 2022
COL9A21May 21, 2022
COL9A34May 21, 2022
COLQ4May 21, 2022
COMP8May 21, 2022
COPA1May 21, 2022
COPB11Jan 23, 2024
COQ41May 21, 2022
COQ72May 21, 2022
COQ7-DT1May 21, 2022
COQ8A4May 21, 2022
COQ8B1May 21, 2022
COX101Oct 22, 2019
CP3May 21, 2022
CPA61Oct 22, 2019
CPEB1-AS11Oct 22, 2019
CPLANE18Jun 26, 2023
CPN11Oct 22, 2019
CPOX1Oct 22, 2019
CPS113May 21, 2022
CPT1A1Oct 22, 2019
CPT1C1Oct 29, 2019
CPT25May 21, 2022
CRB126May 21, 2022
CREBBP12May 21, 2022
CRELD12May 21, 2022
CRIM11May 21, 2022
CRIPAK5May 21, 2022
CROCC2May 21, 2022
CRX8May 21, 2022
CRYAB1May 21, 2022
CRYBB21May 21, 2022
CRYGB1Oct 22, 2019
CRYGC1Oct 22, 2019
CRYGD1May 21, 2022
CRYGS1May 21, 2022
CSF1R2May 21, 2022
CSF2RA5May 21, 2022
CSF3R1May 21, 2022
CSMD11May 21, 2022
CSNK1G11May 21, 2022
CSNK2A13May 21, 2022
CSNK2B5May 21, 2022
CTC14May 21, 2022
CTCF4May 21, 2022
CTDP11Oct 22, 2019
CTNNA12May 21, 2022
CTNNA31Oct 22, 2019
CTNNB17May 21, 2022
CTNND22May 21, 2022
CTNS3Oct 22, 2019
CTNS-AS11Oct 22, 2019
CTRC3May 21, 2022
CTSB1May 21, 2022
CTSK3May 21, 2022
CTXN2-AS12May 21, 2022
CUBN2Oct 22, 2019
CUL31Oct 22, 2019
CUL4B2May 21, 2022
CUL72May 21, 2022
CUX11May 21, 2022
CUX21Oct 22, 2019
CWF19L11May 21, 2022
CXCR41May 21, 2022
CYB5R32Oct 29, 2019
CYBA1Oct 22, 2019
CYBB4May 21, 2022
CYFIP22Oct 22, 2019
CYLD1May 21, 2022
CYLD-AS11Oct 22, 2019
CYP11A12May 21, 2022
CYP11B12May 21, 2022
CYP11B21Oct 22, 2019
CYP19A11May 21, 2022
CYP1B13Aug 22, 2023
CYP21A212May 24, 2022
CYP27A17May 21, 2022
CYP27B12May 21, 2022
CYP2U11Jun 21, 2015
CYP3A41May 21, 2022
CYP4V24May 21, 2022
CZ1P-ASNS3Oct 22, 2019
D2HGDH2Oct 22, 2019
DAG12Oct 22, 2019
DARS25May 21, 2022
DBT5May 21, 2022
DCAF172Oct 22, 2019
DCAF81May 21, 2022
DCC3May 21, 2022
DCDC21Oct 22, 2019
DCHS11May 21, 2022
DCLRE1C4Oct 22, 2019
DCPS2May 21, 2022
DCTN13Oct 22, 2019
DCX1May 21, 2022
DDC6Jul 7, 2023
DDC-AS11May 21, 2022
DDX114May 21, 2022
DDX3X6May 21, 2022
DDX413Mar 28, 2024
DDX591Oct 22, 2019
DDX61May 21, 2022
DEAF18May 23, 2024
DEPDC57May 21, 2022
DES4Oct 22, 2019
DGAT14May 21, 2022
DGUOK3Oct 22, 2019
DHCR74May 21, 2022
DHDDS2May 21, 2022
DHFR1Oct 22, 2019
DHH1May 21, 2022
DHTKD14May 21, 2022
DHX303May 21, 2022
DHX341May 21, 2022
DHX372May 21, 2022
DHX381May 21, 2022
DIAPH13May 21, 2022
DIAPH34May 21, 2022
DICER18May 21, 2022
DIP2A2May 21, 2022
DIPK1A2May 21, 2022
DISC12May 21, 2022
DLAT2May 21, 2022
DLD2May 21, 2022
DLG31May 21, 2022
DLG42May 21, 2022
DLGAP22May 21, 2022
DLL32Oct 22, 2019
DLL41May 21, 2022
DLST1May 21, 2022
DMD324Mar 26, 2024
DMP11Oct 22, 2019
DNA21May 21, 2022
DNAAF11Oct 22, 2019
DNAAF21Oct 22, 2019
DNAAF51May 21, 2022
DNAH113May 21, 2022
DNAH52May 21, 2022
DNAJB21Nov 15, 2015
DNAJB62Oct 22, 2019
DNAJC121Oct 22, 2019
DNAJC132May 21, 2022
DNAJC212May 21, 2022
DNAJC33May 21, 2022
DNM13May 21, 2022
DNM1L7Dec 10, 2022
DNM23May 21, 2022
DNMT13May 21, 2022
DNMT3A5May 21, 2022
DNMT3B1Oct 22, 2019
DOCK23Oct 22, 2019
DOCK32May 21, 2022
DOCK62Oct 22, 2019
DOCK6-AS11Jun 21, 2015
DOCK74May 21, 2022
DOCK84May 21, 2022
DOK77Aug 22, 2023
DPAGT13May 21, 2022
DPM12May 21, 2022
DPP64May 21, 2022
DPYD3May 21, 2022
DSC22Aug 22, 2023
DSG24Aug 22, 2023
DSG2-AS11May 21, 2022
DSP6May 21, 2022
DSP-AS11May 21, 2022
DSPP1Oct 22, 2019
DSTYK1Oct 22, 2019
DUOX26May 21, 2022
DUOXA21Oct 22, 2019
DUSP296Oct 22, 2019
DUSP61Oct 22, 2019
DUX41May 21, 2022
DVL12May 21, 2022
DYNC1H114May 21, 2022
DYNC2H18May 21, 2022
DYNC2I11Oct 22, 2019
DYNC2I21Oct 22, 2019
DYNC2LI12Oct 22, 2019
DYRK1A3May 21, 2022
DYSF7Oct 22, 2019
EARS25May 21, 2022
EBF35May 21, 2022
EBP5May 21, 2022
ECEL12May 21, 2022
ECHS114May 21, 2022
EDA5Oct 22, 2019
EDARADD1May 21, 2022
EDN32Oct 22, 2019
EDNRA2May 21, 2022
EDNRB2May 21, 2022
EDNRB-AS11May 21, 2022
EED1Oct 22, 2019
EEF1A22May 21, 2022
EEF22May 21, 2022
EFEMP21May 21, 2022
EFNB11May 21, 2022
EFTUD21Oct 22, 2019
EGFR48Apr 10, 2024
EGFR-AS13Oct 22, 2019
EGILA2Oct 29, 2019
EGR23May 21, 2022
EHMT112Mar 30, 2023
EIF2AK11May 21, 2022
EIF2AK21May 21, 2022
EIF2AK33Oct 22, 2019
EIF2B55May 21, 2022
ELAC25May 21, 2022
ELANE9May 21, 2022
ELN4May 21, 2022
ELN-AS11May 21, 2022
ELP12Oct 22, 2019
ELP43May 21, 2022
EMC12Oct 22, 2019
EMC1-AS12Oct 22, 2019
EMD1Oct 22, 2019
ENG3May 21, 2022
ENPP12May 21, 2022
ENTPD12Oct 22, 2019
ENTPD1-AS12Oct 22, 2019
EP30017May 21, 2022
EPAS11Apr 10, 2024
EPCAM10May 21, 2022
EPG55May 21, 2022
EPHA22May 21, 2022
EPM2A2May 21, 2022
EPM2AIP11Oct 22, 2019
EPS8L31May 21, 2022
ERBB41Oct 22, 2019
ERCC28May 21, 2022
ERCC39May 21, 2022
ERCC47Oct 22, 2019
ERCC57May 21, 2022
ERCC66Aug 22, 2023
ERCC6L21Oct 22, 2019
ESR21Aug 22, 2023
ETFB1Oct 22, 2019
ETFDH9May 21, 2022
ETV61May 21, 2022
EVC1Oct 22, 2019
EVI2A1Oct 22, 2019
EVI2B2May 21, 2022
EXOSC33May 21, 2022
EXOSC51May 21, 2022
EXOSC81Oct 22, 2019
EXOSC91Oct 22, 2019
EXT14May 21, 2022
EXT23Apr 10, 2024
EYA12Aug 22, 2023
EYS43May 21, 2022
F115May 21, 2022
F11-AS12May 21, 2022
F121Oct 22, 2019
F13A13Jan 25, 2023
F21Oct 22, 2019
F53May 21, 2022
F71Sep 5, 2023
F852May 16, 2024
F8A11Oct 22, 2019
F97Jun 19, 2023
FA2H4May 21, 2022
FAH8May 21, 2022
FAM111A1Oct 22, 2019
FAM111B2May 21, 2022
FAM161A1May 21, 2022
FAM20C1Oct 22, 2019
FAM83H1Oct 22, 2019
FAM98C1May 21, 2022
FAN11Jan 23, 2024
FANCA15May 21, 2022
FANCB1Oct 22, 2019
FANCC56Apr 10, 2024
FANCD222Jan 23, 2024
FANCD2OS5Jan 23, 2024
FANCE2Oct 22, 2019
FANCF1Jan 23, 2024
FANCG2Oct 22, 2019
FANCI6Mar 28, 2024
FANCL5Oct 22, 2019
FANCM27Apr 10, 2024
FARS21Oct 22, 2019
FARSA2May 21, 2022
FARSB2May 21, 2022
FAS5May 21, 2022
FASLG5May 21, 2022
FASTKD24May 21, 2022
FAT16May 21, 2022
FAT43Oct 22, 2019
FBLN51Oct 22, 2019
FBN155Aug 22, 2023
FBN27May 21, 2022
FBP14May 21, 2022
FBXL35Oct 22, 2019
FBXL44Oct 22, 2019
FBXO115Jan 23, 2024
FBXW111May 21, 2022
FCN31Oct 22, 2019
FDXR2May 21, 2022
FECH6Oct 22, 2019
FGA3May 21, 2022
FGD15Oct 22, 2019
FGD41Oct 22, 2019
FGF201Oct 22, 2019
FGF31May 21, 2022
FGF82Oct 22, 2019
FGFR12May 21, 2022
FGFR27May 21, 2022
FGFR39Jun 2, 2023
FGG3May 21, 2022
FH3May 21, 2022
FIG44May 21, 2022
FKBP102Oct 22, 2019
FKRP1Oct 22, 2019
FKTN1Oct 22, 2019
FLAD11Oct 22, 2019
FLCN6Aug 22, 2023
FLG24May 21, 2022
FLNA3May 21, 2022
FLNB4May 21, 2022
FLNC4May 21, 2022
FLNC-AS11May 21, 2022
FLT43Aug 22, 2023
FLVCR13Oct 22, 2019
FMN11May 21, 2022
FMO32Jun 19, 2023
FMR12Oct 22, 2019
FN11Oct 22, 2019
FN1-DT1Oct 22, 2019
FNDC81Oct 22, 2019
FOLR11May 21, 2022
FOXA21May 21, 2022
FOXC13May 21, 2022
FOXE11Apr 10, 2024
FOXE31Oct 22, 2019
FOXG15May 21, 2022
FOXL23May 21, 2022
FOXP110May 21, 2022
FOXP21Oct 22, 2019
FOXP31May 21, 2022
FOXRED11Oct 22, 2019
FRAS11Oct 22, 2019
FRAXE1May 21, 2022
FREM13May 21, 2022
FREM23Oct 22, 2019
FRMD73May 21, 2022
FRRS1L1Oct 22, 2019
FSCN21May 21, 2022
FTCD1May 21, 2022
FTH12May 21, 2022
FTL2May 21, 2022
FUS5May 21, 2022
FZD21Oct 22, 2019
FZD42May 21, 2022
FZD61Oct 22, 2019
G6PC18May 21, 2022
G6PC31Oct 29, 2019
G6PD32May 28, 2022
GAA6May 7, 2023
GABBR12May 21, 2022
GABBR21May 21, 2022
GABRA14May 21, 2022
GABRA21May 21, 2022
GABRA51Oct 29, 2019
GABRB11May 21, 2022
GABRB23May 21, 2022
GABRB34May 21, 2022
GABRG22May 21, 2022
GAD11May 21, 2022
GALC14Dec 26, 2023
GALE3May 21, 2022
GALK15Oct 22, 2019
GALM1May 21, 2022
GALNS10May 21, 2022
GALNTL51May 21, 2022
GALT16Jun 2, 2023
GAMT5Oct 29, 2019
GANAB1May 21, 2022
GAREM22May 21, 2022
GARS14May 21, 2022
GAS2L25May 21, 2022
GATA11May 21, 2022
GATA26Oct 22, 2019
GATA34May 21, 2022
GATA45Aug 22, 2023
GATA62May 21, 2022
GATAD2B4May 21, 2022
GATM1Oct 22, 2019
GBA16May 21, 2022
GBE15May 21, 2022
GCDH14May 21, 2022
GCH19May 21, 2022
GCK7May 21, 2022
GCKR1May 21, 2022
GCM21May 21, 2022
GDAP13May 21, 2022
GDF13Oct 29, 2019
GDF22May 21, 2022
GDF32May 21, 2022
GDF51May 21, 2022
GDF5-AS11May 21, 2022
GDI11May 21, 2022
GDNF1Oct 22, 2019
GFAP6May 21, 2022
GFI14Oct 22, 2019
GFM13Oct 22, 2019
GFPT12May 21, 2022
GH-LCR3May 21, 2022
GH13May 21, 2022
GHR1Oct 22, 2019
GHSR1May 21, 2022
GIGYF12May 21, 2022
GJA11Oct 22, 2019
GJA81May 21, 2022
GJB117May 21, 2022
GJB213May 21, 2022
GJB43May 21, 2022
GJB61Oct 22, 2019
GJC24Oct 22, 2019
GJD2-DT1May 24, 2022
GK1May 21, 2022
GLA12May 21, 2022
GLB19May 21, 2022
GLDC9Jul 13, 2023
GLI23Aug 22, 2023
GLI36May 21, 2022
GLIS32Oct 22, 2019
GLMN1Oct 22, 2019
GLRA12May 21, 2022
GLRB1Oct 22, 2019
GLUD11May 21, 2022
GM2A1May 21, 2022
GML2May 21, 2022
GNA111May 21, 2022
GNAI11May 21, 2022
GNAL1Oct 22, 2019
GNAO111May 21, 2022
GNAS6May 21, 2022
GNB11May 21, 2022
GNB53May 21, 2022
GNE2May 21, 2022
GNPAT1Oct 22, 2019
GNPTAB4May 21, 2022
GNPTG1May 21, 2022
GNRHR1Oct 22, 2019
GOLT1B1Oct 29, 2019
GOSR21Oct 22, 2019
GP1BA2May 21, 2022
GPAA13May 21, 2022
GPC31Oct 22, 2019
GPC61Oct 22, 2019
GPHN10May 21, 2022
GPIHBP12May 21, 2022
GPR1011Oct 22, 2019
GPR1431Oct 22, 2019
GPR1521Oct 22, 2019
GPR1611Jan 23, 2024
GREM21May 21, 2022
GRHL22May 21, 2022
GRHPR1Jan 23, 2024
GRIA23May 21, 2022
GRIA34May 21, 2022
GRIA41May 21, 2022
GRIK11May 21, 2022
GRIN14May 21, 2022
GRIN2A19May 21, 2022
GRIN2B19May 21, 2022
GRIN2D3May 21, 2022
GRIP11Oct 22, 2019
GRM12May 21, 2022
GRN5May 21, 2022
GSDME1May 21, 2022
GSEC2May 21, 2022
GUCA1A2May 21, 2022
GUCA1ANB-GUCA1A2May 21, 2022
GUCA1B1May 21, 2022
GUCY2C3Oct 22, 2019
GUCY2C-AS12Oct 22, 2019
GUCY2D15Apr 5, 2023
GUSB4May 21, 2022
GYS12May 21, 2022
GYS21Oct 22, 2019
H1-43May 21, 2022
H2AC61May 21, 2022
H6PD1Oct 22, 2019
HACE11Oct 22, 2019
HADH4May 21, 2022
HADHA2May 21, 2022
HADHB3Oct 22, 2019
HAFML4May 21, 2022
HAMP1Oct 22, 2019
HARS11May 21, 2022
HAVCR21May 21, 2022
HBA-LCR1Oct 22, 2019
HBB16Aug 22, 2023
HBG21May 21, 2022
HCN13May 21, 2022
HCN42Oct 22, 2019
HDAC43May 21, 2022
HDAC83May 21, 2022
HDLBP1May 21, 2022
HECW22Oct 22, 2019
HENMT11May 21, 2022
HERC24May 21, 2022
HESX13May 21, 2022
HEXA6May 21, 2022
HEXB2Oct 22, 2019
HFE5May 21, 2022
HFE-AS14May 21, 2022
HGF1Oct 22, 2019
HGSNAT3Oct 22, 2019
HIF3A1May 21, 2022
HIVEP21May 21, 2022
HIVEP31May 21, 2022
HK14May 21, 2022
HKDC11Jan 23, 2024
HLCS3May 21, 2022
HMBS3Aug 22, 2023
HMCN14Oct 22, 2019
HMGCL3May 21, 2022
HNF1A13Aug 22, 2023
HNF1B3May 21, 2022
HNF4A4May 21, 2022
HNRNPH21Oct 22, 2019
HNRNPK3May 21, 2022
HNRNPK-AS11Oct 22, 2019
HNRNPR1May 21, 2022
HNRNPU10May 21, 2022
HNRNPUL2-BSCL26May 21, 2022
HOXA101May 21, 2022
HOXA10-HOXA91May 21, 2022
HOXA111May 21, 2022
HOXA131May 21, 2022
HOXB131May 21, 2022
HPD2Oct 22, 2019
HPRT16May 21, 2022
HPSE21Oct 22, 2019
HR1May 21, 2022
HRC2Oct 22, 2019
HS6ST16Aug 22, 2023
HSALR13May 21, 2022
HSCB3Oct 29, 2019
HSD11B11Jan 23, 2024
HSD11B1-AS11Jan 23, 2024
HSD17B101May 21, 2022
HSD17B45May 21, 2022
HSPB11May 21, 2022
HSPB31May 21, 2022
HSPD11May 21, 2022
HSPG26May 21, 2022
HTR1A1May 21, 2022
HUWE13May 21, 2022
HYDIN2May 21, 2022
HYI1May 21, 2022
HYLS12May 21, 2022
IARS22Oct 22, 2019
IDH22May 21, 2022
IDS6May 31, 2024
IDUA9Mar 11, 2023
IFIH16May 21, 2022
IFITM52Oct 22, 2019
IFNAR21Jan 23, 2024
IFNAR2-IL10RB2Jan 23, 2024
IFNGR14May 21, 2022
IFT1222May 21, 2022
IFT1402Oct 22, 2019
IFT801Jun 21, 2015
IGF11Oct 22, 2019
IGFALS1Oct 22, 2019
IGHMBP26May 21, 2022
IHH1May 21, 2022
IKBKB2May 21, 2022
IKBKG2May 28, 2022
IL10RA1Oct 22, 2019
IL10RB1Oct 22, 2019
IL12RB11Oct 22, 2019
IL17RC1Oct 22, 2019
IL17RD2May 21, 2022
IL1RAPL11Oct 22, 2019
IL2RA1Oct 22, 2019
IL2RG4May 21, 2022
IL36RN1Mar 24, 2023
IL7R2Oct 22, 2019
IMPG21Oct 22, 2019
INF21May 21, 2022
INPPL11Oct 22, 2019
INS1Oct 22, 2019
INS-IGF21Oct 22, 2019
INSL32May 21, 2022
INSL61May 21, 2022
INSR10May 21, 2022
INSRR8Oct 22, 2019
INTS141May 21, 2022
INTU1May 21, 2022
INVS2Oct 22, 2019
IQCB14Oct 22, 2019
IQSEC29May 21, 2022
IRAK1BP11May 21, 2022
IRF2BPL3May 21, 2022
IRF61Nov 15, 2015
ITGA21Oct 22, 2019
ITGA2B1May 21, 2022
ITGA71Oct 22, 2019
ITGB23Oct 22, 2019
ITGB43May 21, 2022
ITPA2Oct 22, 2019
ITPR14May 21, 2022
IVD3Oct 22, 2019
JAG17May 21, 2022
JAK21May 21, 2022
JAK34Oct 22, 2019
JARID21May 21, 2022
JMJD1C4May 21, 2022
JPH11Oct 29, 2019
JUP1May 21, 2022
KALRN2May 21, 2022
KANSL19May 21, 2022
KARS14Oct 29, 2019
KAT6A4May 21, 2022
KAT6B6Oct 22, 2019
KBTBD133May 21, 2022
KCNA23May 21, 2022
KCNA51Oct 22, 2019
KCNB18May 21, 2022
KCNC12May 21, 2022
KCNC32Oct 22, 2019
KCND21May 21, 2022
KCND32May 21, 2022
KCNE22Oct 22, 2019
KCNE32Oct 22, 2019
KCNH222Aug 22, 2023
KCNJ112May 21, 2022
KCNJ23Mar 15, 2022
KCNK123Jan 23, 2024
KCNK91Oct 22, 2019
KCNMA12May 21, 2022
KCNN320May 21, 2022
KCNQ14Jun 2, 2023
KCNQ221Sep 20, 2022
KCNQ33May 21, 2022
KCNQ44May 21, 2022
KCNQ52May 21, 2022
KCNS31May 21, 2022
KCNT115May 21, 2022
KCNT23May 21, 2022
KCNV22May 21, 2022
KCTD131May 21, 2022
KCTD72May 21, 2022
KDM3B1May 21, 2022
KDM5B2May 21, 2022
KDM5C4May 21, 2022
KDM6A1May 21, 2022
KDM6B2May 21, 2022
KIAA05863Oct 22, 2019
KIAA07531May 21, 2022
KIDINS2201May 21, 2022
KIF112May 21, 2022
KIF121May 21, 2022
KIF1A11May 21, 2022
KIF1B5May 21, 2022
KIF223May 21, 2022
KIF4A1Sep 11, 2023
KIF5A1May 21, 2022
KIF5C1Oct 22, 2019
KIF71Oct 22, 2019
KIFBP1Oct 29, 2019
KIR3DL11Oct 22, 2019
KISS11Oct 22, 2019
KIT3Jan 23, 2024
KL1Oct 22, 2019
KLF14Oct 22, 2019
KLHL241May 21, 2022
KLHL31Nov 15, 2015
KLHL411Oct 22, 2019
KLHL74May 21, 2022
KLLN5May 21, 2022
KMT2A20May 21, 2022
KMT2B1May 21, 2022
KMT2C7May 21, 2022
KMT2D29Aug 22, 2023
KMT2E4May 21, 2022
KMT5B2May 21, 2022
KNL11Oct 22, 2019
KPTN4May 4, 2024
KRAS1May 21, 2022
KRIT11Oct 22, 2019
KRT11May 21, 2022
KRT121May 21, 2022
KRT143May 21, 2022
KRT161May 21, 2022
KRT22May 21, 2022
KRT41May 21, 2022
KRT54May 21, 2022
KRT6B1Oct 22, 2019
KRT83Aug 22, 2023
KRT811May 21, 2022
KRT851Oct 22, 2019
KRT861May 21, 2022
KRT91Oct 22, 2019
KRTAP10-12Jan 23, 2024
KRTAP10-31Jan 23, 2024
KRTAP10-71May 21, 2022
KYNU1May 21, 2022
L1CAM6Oct 22, 2019
L1CAM-AS14Oct 22, 2019
L2HGDH1Oct 22, 2019
LAMA13Oct 22, 2019
LAMA223Aug 22, 2023
LAMA41Oct 22, 2019
LAMA52May 21, 2022
LAMB31May 21, 2022
LAMC21May 21, 2022
LAMP22May 21, 2022
LARP4B1May 21, 2022
LARP71Oct 22, 2019
LARS11Oct 29, 2019
LCA53Oct 22, 2019
LDB34Aug 22, 2023
LDLR33Aug 22, 2023
LDLR-AS11May 21, 2022
LEFTY21May 21, 2022
LEMD21May 21, 2022
LHX46May 21, 2022
LHX4-AS15May 21, 2022
LIM21May 21, 2022
LINC013891Oct 22, 2019
LINC024561Oct 22, 2019
LINGO11May 21, 2022
LIPA2May 21, 2022
LIPC1May 21, 2022
LIPE1Mar 24, 2023
LIPE-AS11Mar 24, 2023
LIPT22Oct 22, 2019
LIX1L-AS14May 21, 2022
LMF13May 21, 2022
LMNA8May 21, 2022
LMNB22May 21, 2022
LMX1B1Oct 22, 2019
LOC1001303571May 21, 2022
LOC1001330771Oct 22, 2019
LOC1005073464May 21, 2022
LOC1005074433May 21, 2022
LOC1014482022Oct 22, 2019
LOC1019271573Oct 22, 2019
LOC1019280082May 21, 2022
LOC1019280512May 21, 2022
LOC1019289611Oct 22, 2019
LOC1019293051May 31, 2022
LOC1019297101Oct 22, 2019
LOC1019300711Mar 24, 2023
LOC10272405849Aug 22, 2023
LOC1027244521Dec 12, 2023
LOC1053691492May 21, 2022
LOC1053715661Oct 22, 2019
LOC1053727912Oct 22, 2019
LOC1053760321May 21, 2022
LOC1060293121May 21, 2022
LOC1060501025May 21, 2022
LOC10609906212Aug 22, 2023
LOC1060990651May 21, 2022
LOC1061461501Oct 22, 2019
LOC1065017122Oct 22, 2019
LOC10650171310Nov 27, 2023
LOC1065602111May 21, 2022
LOC1066279816May 21, 2022
LOC1067217856Oct 22, 2019
LOC10678080011May 24, 2022
LOC1067808032Oct 22, 2019
LOC1067998332May 21, 2022
LOC1067998341Oct 22, 2019
LOC1071262811May 21, 2022
LOC1071262881May 21, 2022
LOC10713351016Aug 22, 2023
LOC10730333817May 21, 2022
LOC1073033404Dec 31, 2023
LOC1073033431Oct 22, 2019
LOC10765244510May 21, 2022
LOC10798223422May 21, 2022
LOC1082811341Oct 22, 2019
LOC1082811651Oct 22, 2019
LOC1086639841May 21, 2022
LOC1089031481Oct 22, 2019
LOC1095047251May 21, 2022
LOC1096106311Oct 22, 2019
LOC1096115891Oct 22, 2019
LOC1100063194May 21, 2022
LOC1100112161Oct 22, 2019
LOC1101208931May 21, 2022
LOC1101212695Aug 22, 2023
LOC1101214861May 21, 2022
LOC1111626211Oct 22, 2019
LOC1115892156May 21, 2022
LOC11167447243May 23, 2024
LOC11167447517May 21, 2022
LOC1116744778May 21, 2022
LOC1125336711Oct 22, 2019
LOC1125336721Oct 29, 2019
LOC1126947562Oct 22, 2019
LOC1128060371Oct 22, 2019
LOC1128409211Oct 22, 2019
LOC1136338771Nov 11, 2018
LOC1136641062Nov 11, 2018
LOC1136871751Oct 22, 2019
LOC1139399441Oct 22, 2019
LOC1148278321Oct 22, 2019
LOC1148278501Oct 22, 2019
LOC1153081611Oct 22, 2019
LOC1171255871May 21, 2022
LOC1171255912Oct 22, 2019
LOC1171255921Oct 22, 2019
LOC1171255941Oct 22, 2019
LOC1217406331Oct 22, 2019
LOC1218529881May 21, 2022
LOC1221522965Oct 22, 2019
LOC1227871371Oct 22, 2019
LOC1228890111Oct 22, 2019
LOC1235228031May 21, 2022
LOC1238640651Oct 22, 2019
LOC1239562101Oct 22, 2019
LOC1241882391Oct 22, 2019
LOC1246294231Oct 22, 2019
LOC1251774811Oct 22, 2019
LOC1254462611Jun 21, 2015
LOC1254677681Oct 22, 2019
LOC1268056031Oct 22, 2019
LOC1268057933Oct 22, 2019
LOC1268057944Oct 22, 2019
LOC1268058514May 21, 2022
LOC1268058741Oct 22, 2019
LOC1268058901Oct 22, 2019
LOC1268060391May 21, 2022
LOC1268061041Oct 22, 2019
LOC1268063161Oct 22, 2019
LOC1268064271Oct 22, 2019
LOC1268066592Oct 22, 2019
LOC1268068781Oct 22, 2019
LOC1268069455May 21, 2022
LOC1268070111Oct 22, 2019
LOC1268070541Mar 27, 2024
LOC1268071251May 21, 2022
LOC1268071511May 21, 2022
LOC1268072552May 21, 2022
LOC1268596261May 21, 2022
LOC1268596462Oct 22, 2019
LOC1268596902Oct 22, 2019
LOC1268597841Apr 20, 2015
LOC1268598271May 21, 2022
LOC1268598611Oct 22, 2019
LOC1268598711Oct 22, 2019
LOC1268599621Oct 22, 2019
LOC1268600551Oct 22, 2019
LOC1268603031May 21, 2022
LOC1268603421Oct 22, 2019
LOC1268604031Oct 22, 2019
LOC1268604384Oct 22, 2019
LOC1268604691Oct 22, 2019
LOC1268611501May 21, 2022
LOC1268612422Oct 22, 2019
LOC1268612451May 21, 2022
LOC1268613391Oct 22, 2019
LOC1268615091Aug 14, 2022
LOC1268615201Oct 22, 2019
LOC1268615252May 21, 2022
LOC1268615261May 21, 2022
LOC1268618881May 21, 2022
LOC1268618973May 21, 2022
LOC1268618982Aug 22, 2023
LOC1268621151Oct 22, 2019
LOC1268621231May 21, 2022
LOC1268621241Oct 22, 2019
LOC12686226435Mar 30, 2023
LOC1268624022Oct 29, 2019
LOC1268624471Oct 22, 2019
LOC1268624791May 21, 2022
LOC1268624832Oct 22, 2019
LOC1268624931Oct 22, 2019
LOC1268625001May 21, 2022
LOC1268625011May 21, 2022
LOC12686257134Apr 8, 2024
LOC1268625781Oct 22, 2019
LOC1268625864May 21, 2022
LOC1268627572Oct 22, 2019
LOC1268628531May 21, 2022
LOC1268628603May 21, 2022
LOC1268628662Oct 22, 2019
LOC1268629871May 21, 2022
LOC1268631371May 21, 2022
LOC1268632564May 21, 2022
LOC1268632581May 21, 2022
LOC1287722541May 21, 2022
LOC1293905141Oct 22, 2019
LOC1293909032Dec 31, 2023
LOC1293911061Jun 2, 2023
LOC1293913061May 21, 2022
LOC1299302821May 21, 2022
LOC1299309301Oct 22, 2019
LOC1299312993May 3, 2024
LOC1299316481Oct 22, 2019
LOC1299337061Oct 22, 2019
LOC1299337071Oct 22, 2019
LOC1299340961Oct 22, 2019
LOC1299350261Oct 22, 2019
LOC1299354341May 21, 2022
LOC1299355442Oct 22, 2019
LOC1299362441Oct 22, 2019
LOC1299375861Oct 22, 2019
LOC1299921372Oct 22, 2019
LOC1299928131Oct 22, 2019
LOC1299929311May 21, 2022
LOC1299935261Oct 22, 2019
LOC1299936901May 21, 2022
LOC1299939181May 21, 2022
LOC1299941261Oct 22, 2019
LOC1299943461Oct 22, 2019
LOC1299948261May 21, 2022
LOC1299956001May 21, 2022
LOC1299962451Oct 22, 2019
LOC1299964931May 21, 2022
LOC1299969911May 21, 2022
LOC1299973071May 21, 2022
LOC1299988331Oct 22, 2019
LOC1300007841Oct 22, 2019
LOC1300016034Oct 22, 2019
LOC1300016811Oct 22, 2019
LOC1300016833May 21, 2022
LOC1300021331Oct 22, 2019
LOC1300030791Oct 22, 2019
LOC1300031481Oct 22, 2019
LOC1300040381Oct 22, 2019
LOC1300042701Oct 22, 2019
LOC1300042737Oct 22, 2019
LOC1300046142Oct 22, 2019
LOC1300050232Oct 22, 2019
LOC1300053681May 21, 2022
LOC1300062061Oct 22, 2019
LOC1300063281Oct 22, 2019
LOC1300075301Oct 29, 2019
LOC1300081484Oct 22, 2019
LOC1300087921Oct 22, 2019
LOC1300092663Apr 8, 2024
LOC1300098411May 21, 2022
LOC1300099131Oct 22, 2019
LOC1300555241Apr 10, 2024
LOC1300556922Oct 22, 2019
LOC1300562262May 21, 2022
LOC1300567091May 21, 2022
LOC1300573091May 21, 2022
LOC1300573241May 21, 2022
LOC1300583531Oct 22, 2019
LOC1300583831Oct 22, 2019
LOC1300583841Oct 22, 2019
LOC1300585431Oct 22, 2019
LOC1300585871May 21, 2022
LOC1300589071Oct 22, 2019
LOC1300592241Oct 22, 2019
LOC1300592901Oct 22, 2019
LOC1300593942Oct 22, 2019
LOC1300597621Jun 21, 2015
LOC1300603111May 21, 2022
LOC1300605551Oct 22, 2019
LOC1300607151Oct 22, 2019
LOC1300609031Oct 22, 2019
LOC1300609941May 21, 2022
LOC1300613103Oct 22, 2019
LOC1300614961May 21, 2022
LOC1300625551Oct 22, 2019
LOC1300627941May 21, 2022
LOC1300628996Jan 23, 2024
LOC1300629451Oct 29, 2019
LOC1300636731Oct 22, 2019
LOC1300641831May 21, 2022
LOC1300644172Oct 22, 2019
LOC1300648572May 21, 2022
LOC1300649031May 21, 2022
LOC1300649841Oct 22, 2019
LOC1300653453Oct 22, 2019
LOC1300654331Oct 22, 2019
LOC1300661661May 21, 2022
LOC1300662651Oct 22, 2019
LOC1300670161May 21, 2022
LOC1300671651Oct 22, 2019
LOC1300671841Aug 20, 2018
LOC1300678621Oct 22, 2019
LOC1300683081May 21, 2022
LOC1300684961May 21, 2022
LOC1300686211Oct 22, 2019
LOC1300687601Oct 22, 2019
LOC1300688541May 21, 2022
LOC3405121Oct 29, 2019
LONP21May 21, 2022
LOXHD13Oct 22, 2019
LPAR613Aug 22, 2023
LPL25May 21, 2022
LRAT3Oct 22, 2019
LRBA4Oct 22, 2019
LRP11May 21, 2022
LRP21Oct 22, 2019
LRP41May 21, 2022
LRP4-AS11May 21, 2022
LRP54May 21, 2022
LRP61May 21, 2022
LRPPRC1Oct 22, 2019
LRRC37A21Oct 22, 2019
LRRC411Oct 22, 2019
LRRC8A2Oct 29, 2019
LRRK213Jan 8, 2024
LRRTM31Oct 22, 2019
LRSAM13May 21, 2022
LRTOMT1Oct 22, 2019
LTBP21Oct 22, 2019
LTBP31May 21, 2022
LTBP41Oct 29, 2019
LURAP1L-AS11Oct 22, 2019
LYST3Oct 22, 2019
LZTR15May 21, 2022
MACF13May 21, 2022
MAD1L11Jan 23, 2024
MAF4May 21, 2022
MAFB1Oct 22, 2019
MAGEL23May 21, 2022
MAGT11Oct 22, 2019
MAK1Oct 22, 2019
MAK161May 21, 2022
MAMLD13Jan 8, 2024
MAN1B11Oct 22, 2019
MAP1A1May 21, 2022
MAP2K11Oct 22, 2019
MAP2K22May 21, 2022
MAP2K31May 21, 2022
MAP3K13Apr 10, 2024
MAP3K71May 21, 2022
MAPK31May 21, 2022
MAPK8IP31Oct 22, 2019
MAPT8Oct 22, 2019
MARS12Oct 22, 2019
MAST13May 21, 2022
MATN31Oct 22, 2019
MAX2May 21, 2022
MBD59May 21, 2022
MC4R2Aug 22, 2023
MCCC12Oct 22, 2019
MCM41Oct 22, 2019
MCM71May 21, 2022
MEA12Oct 22, 2019
MECP237Dec 21, 2023
MED125May 21, 2022
MED12L5May 21, 2022
MED13L2May 21, 2022
MED235Oct 22, 2019
MED254May 28, 2024
MEF2C5May 21, 2022
MEFV99Aug 22, 2023
MEIS21Oct 22, 2019
MEN128Apr 10, 2024
MERTK7May 21, 2022
MET85Jan 23, 2024
METTL51May 21, 2022
MFF-DT7Oct 11, 2023
MFN213Aug 22, 2023
MFRP2May 21, 2022
MFSD89May 21, 2022
MGME11Oct 22, 2019
MHRT3Oct 22, 2019
MID11May 21, 2022
MIP1May 21, 2022
MIR302CHG1Oct 22, 2019
MIR4713HG1May 21, 2022
MIR68861May 21, 2022
MIR7111May 21, 2022
MITF2May 21, 2022
MKKS7Aug 22, 2023
MKS11Oct 22, 2019
MLC12Oct 22, 2019
MLH1107Apr 10, 2024
MLH33May 21, 2022
MLYCD2May 21, 2022
MMAA1May 21, 2022
MMAB2Oct 22, 2019
MMACHC3Oct 22, 2019
MMADHC1Oct 22, 2019
MMP12May 21, 2022
MMP131Oct 22, 2019
MMP142Oct 22, 2019
MMP21May 21, 2022
MMP92Oct 22, 2019
MMUT10May 21, 2022
MNX11May 21, 2022
MOCS13Oct 22, 2019
MORC24Dec 19, 2023
MPDZ1Oct 22, 2019
MPI1Feb 25, 2022
MPL2May 21, 2022
MPO2Oct 22, 2019
MPV171Oct 22, 2019
MPZ7May 21, 2022
MRE113Oct 22, 2019
MRM12May 21, 2022
MSH2167Apr 10, 2024
MSH35Mar 27, 2024
MSH51Jan 23, 2024
MSH5-SAPCD11Jan 23, 2024
MSH6173Apr 10, 2024
MSL31May 21, 2022
MSN1Oct 22, 2019
MSR12Oct 22, 2019
MSTN1Oct 22, 2019
MSX12Oct 22, 2019
MSX22Oct 22, 2019
MT-ATP69Apr 21, 2023
MT-ATP82May 21, 2022
MT-CO17May 21, 2022
MT-CO23May 21, 2022
MT-CO34May 21, 2022
MT-CYB21May 21, 2022
MT-ND110May 21, 2022
MT-ND21May 21, 2022
MT-ND32May 21, 2022
MT-ND43May 21, 2022
MT-ND4L2May 21, 2022
MT-ND57May 21, 2022
MT-ND65May 21, 2022
MT-RNR11May 21, 2022
MT-TA5May 21, 2022
MT-TC1May 21, 2022
MT-TD3May 21, 2022
MT-TE4May 21, 2022
MT-TF5May 21, 2022
MT-TG2May 21, 2022
MT-TH4May 21, 2022
MT-TI5May 21, 2022
MT-TK8May 21, 2022
MT-TL111May 21, 2022
MT-TL22May 21, 2022
MT-TM1May 21, 2022
MT-TN3May 21, 2022
MT-TP2May 21, 2022
MT-TQ1May 21, 2022
MT-TR5May 21, 2022
MT-TS114May 12, 2024
MT-TS25May 21, 2022
MT-TV6Jun 19, 2023
MT-TW5May 21, 2022
MT-TY1May 21, 2022
MTAP1Oct 22, 2019
MTFMT1May 21, 2022
MTHFD11May 21, 2022
MTHFR3Oct 22, 2019
MTM13Oct 22, 2019
MTMR22May 21, 2022
MTOR3May 21, 2022
MTR5May 21, 2022
MTRR4May 21, 2022
MTSS12Oct 22, 2019
MUTYH83Jan 23, 2024
MVK3Oct 22, 2019
MVP-DT17May 21, 2022
MYBPC346Aug 22, 2023
MYCN2May 21, 2022
MYCNOS1May 21, 2022
MYF63May 21, 2022
MYH115May 21, 2022
MYH141May 21, 2022
MYH29May 21, 2022
MYH36May 21, 2022
MYH64Aug 22, 2023
MYH719Aug 22, 2023
MYH82May 21, 2022
MYH97May 21, 2022
MYHAS11May 21, 2022
MYL23May 21, 2022
MYL31May 21, 2022
MYLK1Oct 22, 2019
MYLK21Oct 22, 2019
MYO15A6Oct 22, 2019
MYO15B1Jan 23, 2024
MYO191May 21, 2022
MYO3A3Oct 22, 2019
MYO5A1Oct 22, 2019
MYO5B5May 21, 2022
MYO62May 21, 2022
MYO7A23Apr 21, 2023
MYOC8Aug 22, 2023
MYOCD1May 21, 2022
MYOM21May 21, 2022
MYORG1May 21, 2022
MYOT1May 21, 2022
MYPN1Aug 22, 2023
MYRF1Oct 22, 2019
MYT1L4May 21, 2022
NAA103May 21, 2022
NAA152May 21, 2022
NACC11May 21, 2022
NADSYN12Oct 29, 2019
NAGA1Mar 30, 2023
NAGLU6Oct 22, 2019
NAGS2Oct 29, 2019
NALCN2Oct 22, 2019
NARS22Oct 22, 2019
NBAS5Oct 22, 2019
NBEA1May 21, 2022
NBN62Jan 23, 2024
NCAPD31May 21, 2022
NCAPH21Oct 22, 2019
NCF11May 21, 2022
NCF43Oct 22, 2019
NCF4-AS12Oct 22, 2019
NCKAP11May 21, 2022
NDE13May 21, 2022
NDP2May 21, 2022
NDP-AS12May 21, 2022
NDUFA11Oct 22, 2019
NDUFA101Oct 22, 2019
NDUFA121Oct 22, 2019
NDUFA92Oct 22, 2019
NDUFAF51Oct 22, 2019
NDUFAF61Oct 22, 2019
NDUFB111May 21, 2022
NDUFB92Oct 22, 2019
NDUFS17Oct 22, 2019
NDUFS21Oct 22, 2019
NDUFS41Oct 22, 2019
NDUFS61Oct 22, 2019
NDUFV13Oct 22, 2019
NEB18May 21, 2022
NECTIN11Oct 22, 2019
NEFH2Oct 22, 2019
NEFL2May 21, 2022
NEUROD12May 21, 2022
NEUROD22May 21, 2022
NEXMIF3May 21, 2022
NEXN3Apr 11, 2023
NF1136Jan 23, 2024
NF239Aug 22, 2023
NFIX6May 21, 2022
NFKB11May 21, 2022
NFKB22May 21, 2022
NHERF11Oct 22, 2019
NHS1Oct 22, 2019
NIN3Oct 22, 2019
NIPA11May 21, 2022
NIPBL9May 21, 2022
NKAP1May 21, 2022
NKX2-113May 21, 2022
NKX2-1-AS11Oct 22, 2019
NKX2-54May 21, 2022
NKX3-21May 21, 2022
NKX6-21May 21, 2022
NLGN4X2May 21, 2022
NLRP11Oct 22, 2019
NLRP122May 21, 2022
NLRP32Aug 22, 2023
NLRP71Oct 22, 2019
NMNAT11May 21, 2022
NOBOX2May 21, 2022
NOD22Oct 22, 2019
NOTCH113May 21, 2022
NOTCH26May 21, 2022
NOTCH319Apr 24, 2024
NPC113May 21, 2022
NPC22Oct 29, 2019
NPHP11Oct 22, 2019
NPHP34May 21, 2022
NPHP3-ACAD117May 21, 2022
NPHP3-AS11Oct 22, 2019
NPHP45Oct 22, 2019
NPHS15Oct 22, 2019
NPHS24May 21, 2022
NPR21Oct 22, 2019
NPRL21May 21, 2022
NPRL31Oct 22, 2019
NR0B11Oct 22, 2019
NR0B23May 21, 2022
NR2E31Oct 22, 2019
NR2F11May 21, 2022
NR3C11Oct 22, 2019
NR4A24May 21, 2022
NR5A11May 21, 2022
NRAS1May 21, 2022
NRL1May 21, 2022
NRP21May 21, 2022
NRXN11Oct 22, 2019
NRXN31May 21, 2022
NSD124Jan 23, 2024
NSD21May 10, 2023
NSDHL1Oct 22, 2019
NT5C22May 21, 2022
NT5DC17May 21, 2022
NTHL13May 21, 2022
NTN11May 21, 2022
NTRK132Jan 23, 2024
NTRK21May 21, 2022
NTRK31May 21, 2022
NUBPL1May 21, 2022
NUCKS11May 21, 2022
NUDC3May 21, 2022
NUDT191Oct 29, 2019
NUP1071May 21, 2022
NUP371May 21, 2022
NUS13May 21, 2022
NYNRIN2May 21, 2022
NYX1May 21, 2022
OBSL13Apr 21, 2023
OCA24Oct 22, 2019
OCRL7May 21, 2022
OFD14Jun 19, 2023
OGT1May 21, 2022
OPA112Aug 22, 2023
OPA31Oct 22, 2019
OPHN12May 21, 2022
OPTN2Aug 22, 2023
ORC41Oct 22, 2019
OS91Jan 23, 2024
OSMR1Oct 22, 2019
OSTM11Oct 22, 2019
OTC15Dec 16, 2023
OTOA1Oct 22, 2019
OTOF4Oct 22, 2019
OTOG1May 21, 2022
OTX24May 21, 2022
OXCT13May 21, 2022
OXTR5Aug 22, 2023
P2RY125May 21, 2022
P3H11May 21, 2022
P4HB1May 21, 2022
PABPN13Oct 22, 2019
PACS11May 21, 2022
PACS22May 21, 2022
PADI34May 21, 2022
PAFAH1B15Aug 8, 2022
PAGE2B1May 21, 2022
PAH14Jan 23, 2024
PAK12May 21, 2022
PAK61Oct 22, 2019
PALB2141Apr 10, 2024
PANK26May 21, 2022
PANO11May 21, 2022
PAPSS22May 21, 2022
PARN2Oct 22, 2019
PAX21May 21, 2022
PAX33May 21, 2022
PAX42May 21, 2022
PAX52May 21, 2022
PAX65May 21, 2022
PAX84Oct 22, 2019
PAX8-AS12Oct 22, 2019
PBX11May 21, 2022
PC3May 21, 2022
PCARE2Oct 22, 2019
PCBD11Oct 22, 2019
PCCA5May 21, 2022
PCCB9Jan 23, 2024
PCDH157May 21, 2022
PCDH1922May 21, 2022
PCDH73May 21, 2022
PCGF23May 21, 2022
PCK12May 21, 2022
PCK21May 21, 2022
PCNA1Oct 22, 2019
PCSK11Oct 22, 2019
PCSK914Aug 22, 2023
PDE11A3May 21, 2022
PDE11A-AS11May 21, 2022
PDE6A10Mar 30, 2023
PDE6B6May 21, 2022
PDE6B-AS11Oct 22, 2019
PDE6C4May 21, 2022
PDE8B1Oct 22, 2019
PDGFB1May 21, 2022
PDGFRA2Mar 27, 2024
PDGFRB2May 21, 2022
PDHA16May 21, 2022
PDHX1Oct 22, 2019
PDX14Oct 22, 2019
PDYN3Oct 1, 2023
PDYN-AS13Oct 1, 2023
PEPD2Oct 29, 2019
PET1001May 21, 2022
PEX102May 21, 2022
PEX11B1May 21, 2022
PEX122Oct 22, 2019
PEX161Oct 22, 2019
PEX22Oct 22, 2019
PEX261Oct 22, 2019
PEX52Oct 22, 2019
PEX65May 21, 2022
PEX71Oct 22, 2019
PFAS1May 21, 2022
PFN11May 21, 2022
PGAM41Oct 22, 2019
PGAP13Oct 22, 2019
PGAP24Oct 22, 2019
PGGHG1Oct 22, 2019
PGK11Oct 22, 2019
PHACTR11May 21, 2022
PHEX109May 21, 2022
PHEX-AS13May 21, 2022
PHF122May 21, 2022
PHF21May 21, 2022
PHF319May 21, 2022
PHF61May 21, 2022
PHF81Oct 22, 2019
PHGDH1Oct 22, 2019
PHIP4May 21, 2022
PHKA13May 21, 2022
PHKA218May 21, 2022
PHKA2-AS12Oct 22, 2019
PHKB1May 21, 2022
PHKG25May 21, 2022
PHOX2B1Oct 22, 2019
PHYH1Oct 22, 2019
PI4KA2May 21, 2022
PIBF11May 21, 2022
PIEZO14May 21, 2022
PIEZO26May 21, 2022
PIGA6May 21, 2022
PIGN6May 21, 2022
PIGO1Oct 22, 2019
PIGP2Oct 22, 2019
PIGT4Oct 22, 2019
PIGW1May 21, 2022
PIK3CA21Oct 22, 2019
PIK3CD2May 21, 2022
PIK3R12May 21, 2022
PIK3R22May 21, 2022
PIK3R51Oct 22, 2019
PINK11May 21, 2022
PIRC661May 21, 2022
PITPNM32May 21, 2022
PITRM12Aug 22, 2023
PITX12May 21, 2022
PITX1-AS11May 21, 2022
PITX21Oct 22, 2019
PJVK2Oct 22, 2019
PKD143Aug 22, 2023
PKD1-AS15May 21, 2022
PKD23Oct 22, 2019
PKD2L2-DT1May 21, 2022
PKHD118May 21, 2022
PKLR3May 21, 2022
PKP212May 21, 2022
PLA2G620May 21, 2022
PLCB41Oct 22, 2019
PLCE13May 21, 2022
PLCG21Oct 29, 2019
PLD35May 21, 2022
PLEC2May 21, 2022
PLEKHA71May 21, 2022
PLEKHG22Oct 22, 2019
PLEKHG51May 21, 2022
PLG2May 21, 2022
PLIN11May 21, 2022
PLN1May 31, 2016
PLOD12Oct 22, 2019
PLOD21May 21, 2022
PLOD31May 21, 2022
PLP13May 21, 2022
PLPBP2Oct 22, 2019
PLS31Oct 22, 2019
PLUT1Oct 22, 2019
PLXNA33May 21, 2022
PLXND12May 21, 2022
PMM24May 21, 2022
PMP222Aug 22, 2023
PMS285Jan 23, 2024
PNKD1May 21, 2022
PNKP4Oct 29, 2019
PNPLA21Oct 22, 2019
PNPLA61Oct 29, 2019
PNPT12May 21, 2022
POC52May 21, 2022
POGZ6May 21, 2022
POLA13May 21, 2022
POLD165Jan 23, 2024
POLE127Apr 10, 2024
POLG18Feb 28, 2024
POLGARF17Feb 28, 2024
POLH2May 21, 2022
POLK1May 21, 2022
POLR1A1Oct 22, 2019
POLR1C8May 21, 2022
POLR1D1May 21, 2022
POLR2A2May 21, 2022
POLR2F1May 21, 2022
POLR3A3Oct 22, 2019
POLR3B1May 21, 2022
POLR3H2Oct 22, 2019
POMC3May 21, 2022
POMGNT16May 21, 2022
POMGNT21Oct 22, 2019
POMP1May 21, 2022
POMT13May 21, 2022
POMT22Oct 22, 2019
POR3May 21, 2022
POT12May 21, 2022
POTEI2May 21, 2022
POU3F33May 21, 2022
PPARG2May 21, 2022
PPFIA31May 21, 2022
PPM1D5May 21, 2022
PPOX1Oct 22, 2019
PPP1R9B1May 21, 2022
PPP2R1A2Oct 22, 2019
PPP2R5D5May 21, 2022
PPP3CA2May 21, 2022
PPP4R3A1May 21, 2022
PPT11May 21, 2022
PQBP11Oct 22, 2019
PRDM162Oct 22, 2019
PREPL1May 21, 2022
PRF111May 21, 2022
PRG41Oct 22, 2019
PRICKLE11Aug 14, 2022
PRICKLE22Aug 22, 2023
PRICKLE2-AS11May 21, 2022
PRIMPOL1May 21, 2022
PRKAR1A3May 21, 2022
PRKAR1B1May 21, 2022
PRKCG3Oct 22, 2019
PRKCSH1May 21, 2022
PRKD13May 21, 2022
PRKN1Oct 22, 2019
PRKRA6May 21, 2022
PRNP7May 21, 2022
PROC3May 21, 2022
PROK22May 21, 2022
PROKR26May 21, 2022
PROM19May 21, 2022
PRORP1May 21, 2022
PRORP-PSMA61May 21, 2022
PROS14Oct 22, 2019
PRPF31Oct 22, 2019
PRPF3110May 21, 2022
PRPF31-AS18May 21, 2022
PRPF41May 21, 2022
PRPF61Oct 22, 2019
PRPF82Oct 22, 2019
PRPH213Mar 17, 2023
PRPS12May 23, 2024
PRRT217May 21, 2022
PRSS17Jun 19, 2023
PRSS231May 21, 2022
PRSS561Oct 22, 2019
PRX7May 21, 2022
PSAP2May 21, 2022
PSAT11Oct 22, 2019
PSEN13May 21, 2022
PSEN24May 21, 2022
PSMC3IP1Oct 29, 2019
PSMD121Oct 22, 2019
PSORS1C12Oct 22, 2019
PSPH3May 21, 2022
PTCH118Aug 22, 2023
PTCH24May 21, 2022
PTCHD12May 21, 2022
PTCHD1-AS39May 21, 2022
PTDSS11Oct 22, 2019
PTEN55Jan 23, 2024
PTF1A1Oct 22, 2019
PTH1R2May 21, 2022
PTK71May 21, 2022
PTPN118May 21, 2022
PTPN232May 21, 2022
PTPRF1Oct 22, 2019
PTPRJ1May 21, 2022
PTPRQ2Oct 22, 2019
PTS1Oct 29, 2019
PUF604May 21, 2022
PURA10May 21, 2022
PUS32May 21, 2022
PYGL6Aug 22, 2023
PYGM3Oct 22, 2019
PYROXD111May 21, 2022
QDPR3Oct 22, 2019
QRICH14May 21, 2022
RAB33A2Oct 22, 2019
RAB9B3May 21, 2022
RAC12May 21, 2022
RAC23Oct 22, 2019
RAC31Oct 29, 2019
RAD212Oct 22, 2019
RAD505Oct 22, 2019
RAD513Jan 23, 2024
RAD51C50Jan 23, 2024
RAD51D58Apr 10, 2024
RAD51L3-RFFL58Apr 10, 2024
RAD54L4May 21, 2022
RAF16Aug 22, 2023
RAG13Oct 22, 2019
RAG21Oct 29, 2019
RAI16May 21, 2022
RANBP21Oct 22, 2019
RAPSN1Oct 22, 2019
RARS11Oct 29, 2019
RARS29May 21, 2022
RASA11Oct 22, 2019
RASA21Apr 10, 2024
RASAL13Jan 23, 2024
RB163Jan 23, 2024
RB1CC11May 21, 2022
RBCK11May 21, 2022
RBFOX11Oct 22, 2019
RBFOX21May 21, 2022
RBM204Oct 22, 2019
RBM282Oct 22, 2019
RBM8A4May 21, 2022
RBP31May 21, 2022
RBPJ7Oct 22, 2019
RDH1210May 21, 2022
RDH52May 21, 2022
RECQL55Jan 23, 2024
RECQL47May 21, 2022
REEP14Aug 22, 2023
RELN1Oct 22, 2019
RELT1May 21, 2022
RERE1May 21, 2022
RET77Apr 10, 2024
REV3L1May 21, 2022
REXO12May 21, 2022
RFT11May 21, 2022
RFWD31May 21, 2022
RGL21May 21, 2022
RGR3May 21, 2022
RGS9BP1Oct 29, 2019
RHBDF21May 21, 2022
RHO8May 21, 2022
RIF19May 21, 2022
RIGI2May 21, 2022
RIMS11Oct 22, 2019
RIN21Oct 22, 2019
RIT11May 21, 2022
RLBP11Oct 22, 2019
RMND12Oct 22, 2019
RNASE42Oct 29, 2019
RNASEH2A1Oct 22, 2019
RNASEH2B1Oct 22, 2019
RNASEL2Jan 23, 2024
RNF1702May 21, 2022
RNF2137Nov 14, 2023
RNF213-AS15May 21, 2022
RNF2161Oct 22, 2019
RNF432Jan 23, 2024
RNR11May 21, 2022
ROBO21Oct 22, 2019
ROBO41May 21, 2022
ROCK21May 21, 2022
ROGDI2Oct 22, 2019
ROM13Oct 29, 2019
ROR21Oct 22, 2019
RORA2May 21, 2022
RORA-AS12May 21, 2022
RORB1May 21, 2022
ROS11May 21, 2022
RP16May 21, 2022
RP1L112May 21, 2022
RP25Oct 22, 2019
RP92Oct 22, 2019
RPE6510Aug 22, 2023
RPGR25May 21, 2022
RPGRIP111Feb 28, 2024
RPGRIP1L1Oct 29, 2019
RPH3A1Oct 29, 2019
RPL102May 21, 2022
RPL31May 21, 2022
RPL36A-HNRNPH213May 21, 2022
RPL53May 21, 2022
RPS172May 21, 2022
RPS191Oct 22, 2019
RPS6KA34Aug 22, 2023
RRAS21May 21, 2022
RS14Jun 2, 2023
RTEL17May 21, 2022
RTEL1-TNFRSF6B7May 21, 2022
RTTN1Oct 29, 2019
RUNX11Oct 22, 2019
RUNX23May 21, 2022
RUSF11May 21, 2022
RXYLT11May 21, 2022
RYR134Aug 22, 2023
RYR26Aug 22, 2023
SACS8May 21, 2022
SAG1Oct 22, 2019
SALL17May 21, 2022
SALL41Oct 22, 2019
SAMD92May 21, 2022
SAMD9L1May 21, 2022
SAMHD11Oct 22, 2019
SASH13Jan 23, 2024
SATB11May 21, 2022
SATB23Oct 22, 2019
SBDS3May 21, 2022
SBF24May 21, 2022
SBF2-AS12May 21, 2022
SCARF21Oct 22, 2019
SCN10A12Aug 22, 2023
SCN11A1May 21, 2022
SCN1A112Aug 22, 2023
SCN1A-AS19Aug 22, 2023
SCN1B2Oct 22, 2019
SCN2A34Aug 22, 2023
SCN3A3May 21, 2022
SCN5A57Aug 22, 2023
SCN8A21May 21, 2022
SCN9A9Aug 22, 2023
SCNN1A2Oct 22, 2019
SCNN1B2Aug 22, 2023
SCNN1G4May 21, 2022
SCO22Oct 22, 2019
SCP21Oct 22, 2019
SDHA8Jun 25, 2022
SDHB16Aug 21, 2020
SDHD2Oct 22, 2019
SEC23B4May 21, 2022
SEC24D1Oct 22, 2019
SEC61A11May 21, 2022
SEC631Oct 22, 2019
SELENON1Oct 22, 2019
SEMA3A3Oct 22, 2019
SEMA3E1May 21, 2022
SERAC11Oct 22, 2019
SERPINA19Aug 8, 2022
SERPIND11Oct 22, 2019
SERPINE11Mar 12, 2024
SERPINF11May 21, 2022
SERPING11May 21, 2022
SERPINI12May 21, 2022
SETBP16May 21, 2022
SETD21May 21, 2022
SETD55May 21, 2022
SETX7Sep 11, 2023
SF3B42May 21, 2022
SFTA313May 21, 2022
SFTPA11May 21, 2022
SFTPC6May 21, 2022
SGCA1Oct 22, 2019
SGCB5May 21, 2022
SGCD2Oct 22, 2019
SGCE3May 21, 2022
SGCG1Oct 22, 2019
SGSH3Oct 29, 2019
SH2B12May 21, 2022
SH2B36Jan 23, 2024
SH2D1A3May 21, 2022
SH3TC26May 21, 2022
SHANK33May 21, 2022
SHFL2Oct 29, 2019
SHOX40Sep 26, 2023
SHROOM31May 21, 2022
SI2Oct 22, 2019
SIAH11May 21, 2022
SIGMAR11Oct 22, 2019
SIK13May 21, 2022
SIL12Oct 22, 2019
SIN3A1Oct 22, 2019
SIX21May 21, 2022
SIX32May 21, 2022
SIX51Oct 22, 2019
SIX61Oct 22, 2019
SKI1Oct 22, 2019
SKIC32May 21, 2022
SKIDA11May 21, 2022
SLC12A14May 21, 2022
SLC12A36May 21, 2022
SLC12A55May 21, 2022
SLC12A5-AS11Oct 22, 2019
SLC13A56Oct 25, 2022
SLC16A13Oct 22, 2019
SLC16A26May 21, 2022
SLC17A91May 21, 2022
SLC18A31Oct 22, 2019
SLC19A13Oct 22, 2019
SLC19A32Oct 22, 2019
SLC1A21May 21, 2022
SLC1A32May 21, 2022
SLC1A42Apr 21, 2023
SLC22A57Mar 24, 2023
SLC24A11Oct 22, 2019
SLC25A102Jan 23, 2024
SLC25A133May 21, 2022
SLC25A221May 21, 2022
SLC25A461Oct 22, 2019
SLC26A15Mar 11, 2023
SLC26A21Oct 22, 2019
SLC26A32Oct 22, 2019
SLC26A47May 21, 2022
SLC26A81May 21, 2022
SLC27A43May 21, 2022
SLC2A118May 21, 2022
SLC2A1-DT1May 21, 2022
SLC2A22May 21, 2022
SLC2A91May 21, 2022
SLC34A11Oct 22, 2019
SLC34A36May 21, 2022
SLC35A24May 21, 2022
SLC36A21Oct 22, 2019
SLC37A47May 21, 2022
SLC38A81May 21, 2022
SLC39A131Oct 22, 2019
SLC39A83May 21, 2022
SLC3A11May 21, 2022
SLC40A12Mar 14, 2023
SLC45A21Oct 22, 2019
SLC46A11Oct 29, 2019
SLC4A17Aug 22, 2023
SLC4A111Oct 22, 2019
SLC4A43May 21, 2022
SLC52A23May 21, 2022
SLC52A34May 21, 2022
SLC5A14May 21, 2022
SLC5A22May 21, 2022
SLC5A51Aug 22, 2023
SLC6A110May 21, 2022
SLC6A1-AS13May 21, 2022
SLC6A191May 21, 2022
SLC6A201Oct 22, 2019
SLC6A56May 21, 2022
SLC6A83May 21, 2022
SLC7A91Oct 22, 2019
SLC9A3R1-AS11Oct 22, 2019
SLC9A63Oct 22, 2019
SLCO1B11May 21, 2022
SLCO1B31Oct 22, 2019
SLCO1B3-SLCO1B71Oct 22, 2019
SLCO5A11May 21, 2022
SLK1Nov 22, 2022
SLX420Jan 23, 2024
SMAD21May 21, 2022
SMAD32Oct 22, 2019
SMAD43May 21, 2022
SMARCA26May 21, 2022
SMARCA411Jan 23, 2024
SMARCB12May 21, 2022
SMARCC21May 21, 2022
SMARCE11May 21, 2022
SMC1A7May 21, 2022
SMC34May 21, 2022
SMO1Oct 22, 2019
SMPD12May 21, 2022
SMPD41May 21, 2022
SNAI21May 21, 2022
SNAP252May 21, 2022
SNHG149May 21, 2022
SNHG311Oct 22, 2019
SNORD1183May 21, 2022
SNRNP2004Oct 22, 2019
SNTA12Aug 22, 2023
SNX142May 21, 2022
SOCS31May 21, 2022
SOD13Mar 30, 2023
SON3May 21, 2022
SORL12May 21, 2022
SOS19May 21, 2022
SOS21Oct 22, 2019
SOX101May 21, 2022
SOX113May 21, 2022
SOX171Oct 22, 2019
SOX31Oct 22, 2019
SOX41May 21, 2022
SOX52May 21, 2022
SOX92May 21, 2022
SPAST14May 21, 2022
SPATA76May 21, 2022
SPECC1L3Oct 22, 2019
SPECC1L-ADORA2A3Oct 22, 2019
SPEN1May 21, 2022
SPG1115May 21, 2022
SPG77May 21, 2022
SPINK14Oct 22, 2019
SPINK52Oct 22, 2019
SPOP2May 21, 2022
SPRED12Oct 22, 2019
SPRY21May 21, 2022
SPTA16Jan 31, 2023
SPTAN17May 21, 2022
SPTB2Apr 21, 2023
SPTBN14May 21, 2022
SPTBN22May 21, 2022
SPTLC12Oct 22, 2019
SPTLC22May 21, 2022
SRCAP5May 21, 2022
SRD5A31May 21, 2022
SRD5A3-AS11May 21, 2022
SREBF12May 21, 2022
SRPX22Oct 22, 2019
SRRM21May 21, 2022
SSBP12May 21, 2022
SSR41Jun 21, 2015
SSUH21May 21, 2022
ST3GAL51Oct 22, 2019
STAG11Oct 22, 2019
STAG21May 21, 2022
STARD91May 21, 2022
STAT14May 21, 2022
STAT32Oct 22, 2019
STAT5B1May 21, 2022
STIL3Oct 22, 2019
STIM11May 21, 2022
STING12May 21, 2022
STK1156Jan 23, 2024
STRA61Oct 22, 2019
STRC1Oct 22, 2019
STUB11Oct 22, 2019
STX114May 21, 2022
STX1B2May 21, 2022
STXBP112May 21, 2022
STXBP25May 21, 2022
SUCLA23May 21, 2022
SUCLG16May 21, 2022
SUFU4Oct 22, 2019
SUGCT1May 21, 2022
SUMO41May 21, 2022
SUOX6Oct 22, 2019
SURF14May 21, 2022
SUZ122May 21, 2022
SYCE23May 21, 2022
SYN12May 21, 2022
SYN31Oct 22, 2019
SYNCRIP1May 21, 2022
SYNE18Aug 22, 2023
SYNE23Aug 22, 2023
SYNGAP110May 21, 2022
SYNGAP1-AS18May 21, 2022
SYT11May 21, 2022
SYT141Oct 22, 2019
SZT21May 21, 2022
TAB22May 21, 2022
TACC21May 21, 2022
TAF13May 21, 2022
TAF82May 21, 2022
TAFAZZIN1Oct 22, 2019
TANGO21Apr 21, 2023
TAOK11May 21, 2022
TAP22Oct 22, 2019
TAPBP1Oct 22, 2019
TARDBP1Oct 22, 2019
TARS21May 21, 2022
TAS2R41May 21, 2022
TAT1May 21, 2022
TAT-AS11May 21, 2022
TBC1D231Oct 22, 2019
TBC1D243May 21, 2022
TBC1D7-LOC1001303571May 21, 2022
TBCEL-TECTA3May 21, 2022
TBCK1Oct 22, 2019
TBL1X1May 21, 2022
TBL1XR15May 21, 2022
TBL1XR1-AS12Oct 22, 2019
TBR12May 21, 2022
TBX13May 21, 2022
TBX181Oct 22, 2019
TBX22May 21, 2022
TBX201Oct 22, 2019
TBX225May 21, 2022
TBX41May 21, 2022
TBX55Aug 22, 2023
TBX62May 21, 2022
TBXA2R1Oct 22, 2019
TBXAS14May 21, 2022
TCAP1Oct 22, 2019
TCF207May 21, 2022
TCF410May 21, 2022
TCIRG11May 21, 2022
TCN24May 21, 2022
TCOF16May 21, 2022
TDRD71May 21, 2022
TEAD11Oct 22, 2019
TECTA3May 21, 2022
TEK1May 21, 2022
TELO23May 21, 2022
TENM43May 21, 2022
TERF2IP1May 21, 2022
TERT9May 21, 2022
TET22May 21, 2022
TET2-AS12May 21, 2022
TEX113May 21, 2022
TEX121Oct 29, 2019
TEX152May 21, 2022
TF2Dec 31, 2023
TFAP2A1Oct 22, 2019
TFAP2A-AS21Oct 22, 2019
TFE31May 21, 2022
TFG1Oct 22, 2019
TFR22Oct 22, 2019
TG3Oct 22, 2019
TGFB13Oct 22, 2019
TGFB22Oct 22, 2019
TGFB31May 21, 2022
TGFBI4May 21, 2022
TGFBR11Oct 22, 2019
TGFBR29Aug 22, 2023
TGIF14May 21, 2022
TGM12Oct 22, 2019
TGM54May 21, 2022
TGM64May 21, 2022
TH4May 21, 2022
THBD1May 21, 2022
THRA1Oct 22, 2019
THRB1Oct 22, 2019
TIA11Oct 22, 2019
TIMM221Oct 21, 2022
TIMM8A2May 21, 2022
TIMP31Oct 22, 2019
TINF22May 21, 2022
TJP22May 21, 2022
TK23Feb 12, 2024
TLCD3B1May 21, 2022
TM9SF41May 21, 2022
TMC11Oct 22, 2019
TMEM1073May 21, 2022
TMEM1272Oct 22, 2019
TMEM1651Oct 22, 2019
TMEM2162Oct 22, 2019
TMEM2312Oct 22, 2019
TMEM2371Oct 22, 2019
TMEM2601Oct 22, 2019
TMEM431Oct 22, 2019
TMEM63C1May 21, 2022
TMEM675May 21, 2022
TMLHE4May 21, 2022
TMLHE-AS11May 21, 2022
TMPRSS151Jun 19, 2023
TNC1May 21, 2022
TNFRSF11B1Oct 22, 2019
TNFRSF13B5May 21, 2022
TNFRSF1A5May 21, 2022
TNFRSF6B1Oct 22, 2019
TNNI33May 21, 2022
TNNT25Oct 22, 2019
TNNT31May 21, 2022
TNPO31Oct 22, 2019
TNR2May 21, 2022
TNXB4Oct 22, 2019
TOE15Oct 22, 2019
TOMT1Oct 22, 2019
TONSL2Oct 22, 2019
TONSL-AS11Oct 22, 2019
TOP3A2May 21, 2022
TOPORS2Oct 22, 2019
TOR1A2May 21, 2022
TP5364Aug 22, 2023
TP53BP11Oct 22, 2019
TP634May 21, 2022
TPI11May 21, 2022
TPM13May 21, 2022
TPM22May 21, 2022
TPM32Oct 22, 2019
TPO2Oct 22, 2019
TPP18May 21, 2022
TPRN1Oct 22, 2019
TRAF72May 21, 2022
TRAK11Jan 23, 2024
TRAPPC21May 21, 2022
TRAPPC2L7Oct 22, 2019
TRAPPC41May 21, 2022
TRAPPC92May 21, 2022
TRB7Jun 19, 2023
TRDN1Oct 22, 2019
TREX11Oct 22, 2019
TRIM322Oct 22, 2019
TRIM59-IFT801Jun 21, 2015
TRIO5May 21, 2022
TRIOBP1Oct 22, 2019
TRIP124Oct 22, 2019
TRIP41Oct 22, 2019
TRIT11May 21, 2022
TRMT10B2Oct 29, 2019
TRNT11Oct 22, 2019
TRPA11May 21, 2022
TRPM11Oct 22, 2019
TRPM42Oct 22, 2019
TRPS12May 21, 2022
TRPV31Oct 22, 2019
TRPV46May 21, 2022
TRPV61May 21, 2022
TRRAP3May 21, 2022
TSC119May 21, 2022
TSC247May 21, 2022
TSEN341Oct 22, 2019
TSEN546May 21, 2022
TSFM1May 21, 2022
TSHR4Apr 21, 2023
TSNAX-DISC12May 21, 2022
TSPAN14Oct 22, 2019
TSPAN316Apr 10, 2024
TSPAN71Oct 22, 2019
TSPEAR5Jan 23, 2024
TTBK21Oct 22, 2019
TTC191May 21, 2022
TTC21B3Oct 22, 2019
TTC21B-AS11Oct 22, 2019
TTC36-AS11Oct 22, 2019
TTI21May 21, 2022
TTN17May 21, 2022
TTN-AS15May 21, 2022
TTPA3Oct 22, 2019
TTR13Aug 22, 2023
TUBA1A2Oct 22, 2019
TUBB2May 21, 2022
TUBB12Apr 12, 2023
TUBB2A3May 28, 2022
TUBB2B2May 21, 2022
TUBB4A2May 21, 2022
TUBB4B1May 21, 2022
TUBB82May 21, 2022
TUBGCP42Oct 22, 2019
TUBGCP61Oct 22, 2019
TULP16Oct 22, 2019
TUSC31Oct 22, 2019
TWIST13May 21, 2022
TWNK1May 21, 2022
TXNL4A1May 21, 2022
TYMP2Oct 22, 2019
TYR5May 21, 2022
TYRP11Oct 22, 2019
U2AF21May 21, 2022
UBA53May 21, 2022
UBAP11May 21, 2022
UBE2A1Oct 22, 2019
UBE3A9May 21, 2022
UBE3B1Oct 22, 2019
UBE4A1Oct 27, 2018
UBQLN21May 21, 2022
UFSP21May 21, 2022
UGDH1May 21, 2022
UGT1A7Jun 19, 2023
UGT1A17Jun 19, 2023
UGT1A107Jun 19, 2023
UGT1A37Jun 19, 2023
UGT1A47Jun 19, 2023
UGT1A57Jun 19, 2023
UGT1A67Jun 19, 2023
UGT1A77Jun 19, 2023
UGT1A87Jun 19, 2023
UGT1A97Jun 19, 2023
UMOD4May 21, 2022
UNC1192Oct 22, 2019
UNC13A1May 21, 2022
UNC13D11May 21, 2022
UNC806May 21, 2022
UPB12Jun 19, 2023
UPF3B2May 21, 2022
UROD8May 21, 2022
UROS1May 21, 2022
USH1C1Oct 22, 2019
USH2A55Apr 21, 2023
USH2A-AS14Oct 22, 2019
USH2A-AS25May 21, 2022
USP501May 21, 2022
USP531May 21, 2022
USP71Oct 29, 2019
USP81May 21, 2022
USP9X4May 21, 2022
UVSSA6May 21, 2022
VANGL12Oct 22, 2019
VAPB2Oct 22, 2019
VARS26Oct 22, 2019
VCAN1Oct 22, 2019
VCAN-AS11Oct 22, 2019
VCL2Aug 22, 2023
VCP1Nov 15, 2015
VDR4Jan 29, 2024
VEGFC10May 21, 2022
VEZF12May 21, 2022
VHL10Dec 31, 2023
VKORC11May 21, 2022
VPS13B14Aug 22, 2023
VPS33B4May 21, 2022
VRK11May 21, 2022
VRK24Oct 22, 2019
VSIR3May 21, 2022
VSX13May 21, 2022
VWA81Jan 23, 2024
VWF12May 21, 2022
WARS25May 3, 2024
WARS2-AS13May 3, 2024
WAS8May 21, 2022
WASF11Oct 29, 2019
WASHC51Oct 22, 2019
WDFY34May 21, 2022
WDFY43May 21, 2022
WDR111Aug 22, 2023
WDR194Oct 22, 2019
WDR265May 21, 2022
WDR352Oct 22, 2019
WDR364May 21, 2022
WDR371May 21, 2022
WDR459May 21, 2022
WDR732Oct 22, 2019
WDR811May 21, 2022
WDR874May 21, 2022
WFS112May 21, 2022
WHRN4Oct 22, 2019
WIPF11Oct 22, 2019
WNK11Oct 22, 2019
WNT11Jan 5, 2015
WNT10A6Mar 30, 2023
WNT5A1May 21, 2022
WRAP533Oct 22, 2019
WRN8May 21, 2022
WT132May 21, 2022
WWOX11May 21, 2022
XDH2Oct 22, 2019
XIAP5May 21, 2022
XPC5Jan 23, 2024
XRCC218Oct 22, 2019
XYLT21Oct 22, 2019
YAP12May 21, 2022
YARS11May 21, 2022
YARS27Dec 10, 2022
YWHAG2Oct 22, 2019
ZBTB183May 21, 2022
ZBTB204May 21, 2022
ZBTB421Oct 22, 2019
ZBTB471May 21, 2022
ZC4H21Oct 22, 2019
ZDHHC241Oct 22, 2019
ZDHHC91May 21, 2022
ZEB13Dec 24, 2023
ZEB212May 21, 2022
ZFHX34May 21, 2022
ZFHX3-AS14May 21, 2022
ZFPM23Oct 22, 2019
ZFPM2-AS13Oct 22, 2019
ZFYVE266May 21, 2022
ZFYVE271Oct 22, 2019
ZGRF13May 21, 2022
ZIC22May 21, 2022
ZIC31Oct 22, 2019
ZMIZ11May 21, 2022
ZMPSTE241Oct 22, 2019
ZMYND111May 21, 2022
ZNF1481May 21, 2022
ZNF2763Oct 22, 2019
ZNF2924Jan 23, 2024
ZNF3352May 21, 2022
ZNF4622Oct 29, 2019
ZNF4692Oct 22, 2019
ZNF6271Oct 22, 2019
ZNF6441May 21, 2022
ZNF6872May 21, 2022
ZSWIM62May 21, 2022

Condition

NameSubmissionsLast Updated
2-aminoadipic 2-oxoadipic aciduria2Oct 22, 2019
3-Methylglutaconic aciduria type 21Oct 22, 2019
3-Methylglutaconic aciduria type 31Oct 22, 2019
3-methylcrotonyl-CoA carboxylase 1 deficiency2Oct 22, 2019
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1Oct 22, 2019
3-methylglutaconic aciduria, type VIIB1Oct 22, 2019
3M syndrome 12May 21, 2022
3M syndrome 23Apr 21, 2023
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency1Oct 22, 2019
46,XY sex reversal 71May 21, 2022
46,XY sex reversal 93Oct 22, 2019
8q24.3 microdeletion syndrome4May 21, 2022
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder7May 21, 2022
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome5May 21, 2022
AICA-ribosiduria2Oct 22, 2019
ALDH18A1-related de Barsy syndrome1May 21, 2022
ALG1-congenital disorder of glycosylation4Oct 22, 2019
ALG6-congenital disorder of glycosylation 1C1Oct 22, 2019
ALG9 congenital disorder of glycosylation1Oct 22, 2019
ANE syndrome2Oct 22, 2019
Aarskog syndrome5Oct 22, 2019
Abdominal obesity-metabolic syndrome 41May 21, 2022
Abnormality of neuronal migration2Oct 8, 2018
Achondroplasia3May 21, 2022
Achromatopsia 24May 21, 2022
Achromatopsia 35Oct 22, 2019
Achromatopsia 75Oct 22, 2019
Acral peeling skin syndrome2May 21, 2022
Acrocallosal syndrome1Oct 22, 2019
Acrocephalosyndactyly type I3May 21, 2022
Acrodermatitis continua suppurativa of Hallopeau1Mar 24, 2023
Acrofacial dysostosis Cincinnati type1Oct 22, 2019
Acromesomelic dysplasia 1, Maroteaux type1Oct 22, 2019
Acromicric dysplasia7May 21, 2022
Actin accumulation myopathy5May 21, 2022
Acute intermittent porphyria3Aug 22, 2023
Acute lymphoid leukemia1May 21, 2022
Acute myeloid leukemia2May 21, 2022
Acyl-CoA dehydrogenase 9 deficiency2Oct 22, 2019
Acyl-CoA oxidase deficiency3May 21, 2022
Adams-Oliver syndrome 11Oct 22, 2019
Adams-Oliver syndrome 22Oct 22, 2019
Adams-Oliver syndrome 512Oct 22, 2019
Adenosine kinase deficiency2Oct 22, 2019
Adenylosuccinate lyase deficiency6May 21, 2022
Adrenoleukodystrophy23May 21, 2022
Adult hypophosphatasia2May 21, 2022
Agammaglobulinemia 5, autosomal dominant2Oct 29, 2019
Age related macular degeneration 14Oct 22, 2019
Age related macular degeneration 214May 21, 2022
Aicardi-Goutieres syndrome 11Oct 22, 2019
Aicardi-Goutieres syndrome 21Oct 22, 2019
Aicardi-Goutieres syndrome 41Oct 22, 2019
Aicardi-Goutieres syndrome 51Oct 22, 2019
Al-Raqad syndrome2May 21, 2022
Alagille syndrome due to a JAG1 point mutation5May 21, 2022
Alcohol dependence1May 21, 2022
Alexander disease6May 21, 2022
Allan-Herndon-Dudley syndrome6May 21, 2022
Alopecia universalis congenita1May 21, 2022
Alpha thalassemia-X-linked intellectual disability syndrome4Oct 22, 2019
Alpha-1-antitrypsin deficiency8Aug 8, 2022
Alpha-methylacyl-CoA racemase deficiency4Oct 22, 2019
Alport syndrome1Dec 12, 2022
Alport syndrome 3b, autosomal recessive1Oct 11, 2023
Alstrom syndrome9May 21, 2022
Alternating hemiplegia of childhood 11May 21, 2022
Alzheimer disease 31Oct 22, 2019
Alzheimer disease 41Oct 22, 2019
Alzheimer disease 91Apr 11, 2023
Alzheimer disease type 12May 21, 2022
Amelocerebrohypohidrotic syndrome2Oct 22, 2019
Amelogenesis imperfecta type 1A1May 21, 2022
Amelogenesis imperfecta, hypocalcification type1Oct 22, 2019
Amelogenesis imperfecta, type 3c1May 21, 2022
Aminoacylase 1 deficiency2Oct 22, 2019
Amyloidosis, primary localized cutaneous, 11Oct 22, 2019
Amyotrophic lateral sclerosis type 18Mar 30, 2023
Amyotrophic lateral sclerosis type 113Oct 22, 2019
Amyotrophic lateral sclerosis type 191Oct 22, 2019
Amyotrophic lateral sclerosis type 231Oct 22, 2019
Amyotrophic lateral sclerosis type 46Sep 11, 2023
Amyotrophic lateral sclerosis type 51May 21, 2022
Amyotrophic lateral sclerosis type 64Oct 22, 2019
Amyotrophic lateral sclerosis type 82Oct 22, 2019
Amyotrophic lateral sclerosis type 92Oct 29, 2019
Analbuminemia1Oct 22, 2019
Anaphylotoxin inactivator deficiency1Oct 22, 2019
Androgen resistance syndrome4Feb 28, 2024
Anemia, nonspherocytic hemolytic, due to G6PD deficiency32May 28, 2022
Aneurysm-osteoarthritis syndrome2Oct 22, 2019
Angelman syndrome9May 21, 2022
Aniridia 12Oct 22, 2019
Anterior segment dysgenesis 11Oct 22, 2019
Anterior segment dysgenesis 31May 21, 2022
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis1Oct 22, 2019
Aortic aneurysm, familial thoracic 45May 21, 2022
Aortic aneurysm, familial thoracic 61Oct 22, 2019
Aortic aneurysm, familial thoracic 71Oct 22, 2019
Arginase deficiency5Sep 27, 2022
Arginine:glycine amidinotransferase deficiency1Oct 22, 2019
Argininosuccinate lyase deficiency4May 21, 2022
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma5May 21, 2022
Arrhythmogenic right ventricular dysplasia 101May 21, 2022
Arrhythmogenic right ventricular dysplasia 112Aug 22, 2023
Arrhythmogenic right ventricular dysplasia 131Oct 22, 2019
Arrhythmogenic right ventricular dysplasia 51Oct 22, 2019
Arrhythmogenic right ventricular dysplasia 911May 21, 2022
Arrhythmogenic right ventricular dysplasia, familial, 141May 21, 2022
Arthrogryposis multiplex congenita2Oct 8, 2018
Arthrogryposis, distal, type 1A2May 21, 2022
Arthrogryposis, distal, with impaired proprioception and touch3Oct 22, 2019
Arthrogryposis, renal dysfunction, and cholestasis 13May 21, 2022
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome3May 21, 2022
Arts syndrome1May 23, 2024
Aspartylglucosaminuria1Oct 22, 2019
Asphyxiating thoracic dystrophy 21Jun 21, 2015
Asphyxiating thoracic dystrophy 37May 21, 2022
Asphyxiating thoracic dystrophy 54Oct 22, 2019
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome3Oct 22, 2019
Ataxia - oculomotor apraxia type 41Apr 20, 2015
Ataxia with oculomotor apraxia type 31Oct 22, 2019
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia2Oct 22, 2019
Ataxia-pancytopenia syndrome1May 21, 2022
Ataxia-telangiectasia syndrome320Apr 10, 2024
Ataxia-telangiectasia-like disorder 13Oct 22, 2019
Ataxia-telangiectasia-like disorder 21Oct 22, 2019
Atelosteogenesis type I1May 21, 2022
Atransferrinemia1Dec 31, 2023
Atrial fibrillation, familial, 71Oct 22, 2019
Atrial septal defect 41Oct 22, 2019
Atrial septal defect 73Oct 22, 2019
Atrioventricular septal defect 41Aug 22, 2023
Atrioventricular septal defect 51Oct 22, 2019
Atrophia bulborum hereditaria1Oct 22, 2019
Atypical hemolytic-uremic syndrome with B factor anomaly1Feb 14, 2023
Atypical hemolytic-uremic syndrome with C3 anomaly2Oct 22, 2019
Atypical hemolytic-uremic syndrome with I factor anomaly2Oct 22, 2019
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly1Apr 24, 2024
Au-Kline syndrome3May 21, 2022
Auditory neuropathy-optic atrophy syndrome1Oct 22, 2019
Auriculocondylar syndrome 21Oct 22, 2019
Autism spectrum disorder due to AUTS2 deficiency3Oct 22, 2019
Autism, susceptibility to, 51Oct 22, 2019
Autism, susceptibility to, X-linked 21Oct 22, 2019
Autism, susceptibility to, X-linked 41Oct 22, 2019
Autoimmune lymphoproliferative syndrome type 113Oct 22, 2019
Autoimmune lymphoproliferative syndrome type 2A1May 21, 2022
Autoimmune lymphoproliferative syndrome type 2B2Oct 22, 2019
Autosomal dominant Parkinson disease 812Jan 8, 2024
Autosomal dominant Robinow syndrome 12May 21, 2022
Autosomal dominant Robinow syndrome 22Oct 22, 2019
Autosomal dominant auditory neuropathy 12Oct 22, 2019
Autosomal dominant centronuclear myopathy2Oct 22, 2019
Autosomal dominant cerebellar ataxia, deafness and narcolepsy1May 21, 2022
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures3Sep 28, 2022
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures6May 21, 2022
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome3Oct 22, 2019
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome3Oct 22, 2019
Autosomal dominant isolated somatotropin deficiency2May 21, 2022
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)2Oct 22, 2019
Autosomal dominant limb-girdle muscular dystrophy type 1F1Oct 22, 2019
Autosomal dominant nocturnal frontal lobe epilepsy 41Aug 22, 2023
Autosomal dominant nonsyndromic hearing loss 12Oct 22, 2019
Autosomal dominant nonsyndromic hearing loss 121Oct 22, 2019
Autosomal dominant nonsyndromic hearing loss 203May 21, 2022
Autosomal dominant nonsyndromic hearing loss 221Oct 22, 2019
Autosomal dominant nonsyndromic hearing loss 2A2May 21, 2022
Autosomal dominant optic atrophy classic form9Aug 22, 2023
Autosomal dominant osteopetrosis 22May 21, 2022
Autosomal dominant pseudohypoaldosteronism type 11Oct 22, 2019
Autosomal dominant sensory ataxia 11May 31, 2016
Autosomal dominant striatal neurodegeneration type 11Oct 22, 2019
Autosomal recessive Alport syndrome5Oct 22, 2019
Autosomal recessive DOPA responsive dystonia4May 21, 2022
Autosomal recessive ataxia due to ubiquinone deficiency4May 21, 2022
Autosomal recessive ataxia, Beauce type7Aug 22, 2023
Autosomal recessive congenital ichthyosis 12Oct 22, 2019
Autosomal recessive congenital ichthyosis 22May 21, 2022
Autosomal recessive congenital ichthyosis 4B1Oct 22, 2019
Autosomal recessive distal renal tubular acidosis5Oct 22, 2019
Autosomal recessive distal spinal muscular atrophy 16May 21, 2022
Autosomal recessive distal spinal muscular atrophy 21Oct 22, 2019
Autosomal recessive hypophosphatemic bone disease6May 21, 2022
Autosomal recessive inherited pseudoxanthoma elasticum6Jun 19, 2023
Autosomal recessive juvenile Parkinson disease 21Oct 22, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2A4Oct 22, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2B7Oct 22, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2C1Oct 22, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2D1Oct 22, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2E5May 21, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2F2Oct 22, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2I1Oct 22, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2K2Oct 22, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2L1Dec 12, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2P2Oct 22, 2019
Autosomal recessive multiple pterygium syndrome1Oct 22, 2019
Autosomal recessive nonsyndromic hearing loss 161Oct 22, 2019
Autosomal recessive nonsyndromic hearing loss 1A8Oct 22, 2019
Autosomal recessive nonsyndromic hearing loss 220Apr 21, 2023
Autosomal recessive nonsyndromic hearing loss 221Oct 22, 2019
Autosomal recessive nonsyndromic hearing loss 281Oct 22, 2019
Autosomal recessive nonsyndromic hearing loss 36Oct 22, 2019
Autosomal recessive nonsyndromic hearing loss 303Oct 22, 2019
Autosomal recessive nonsyndromic hearing loss 391Oct 22, 2019
Autosomal recessive nonsyndromic hearing loss 631Oct 22, 2019
Autosomal recessive nonsyndromic hearing loss 661Oct 22, 2019
Autosomal recessive nonsyndromic hearing loss 71Oct 22, 2019
Autosomal recessive nonsyndromic hearing loss 773Oct 22, 2019
Autosomal recessive nonsyndromic hearing loss 791Oct 22, 2019
Autosomal recessive nonsyndromic hearing loss 84A2Oct 22, 2019
Autosomal recessive nonsyndromic hearing loss 894Oct 29, 2019
Autosomal recessive nonsyndromic hearing loss 94Oct 22, 2019
Autosomal recessive omodysplasia1Oct 22, 2019
Autosomal recessive osteopetrosis 11May 21, 2022
Autosomal recessive osteopetrosis 51Oct 22, 2019
Autosomal recessive polycystic kidney disease16Oct 22, 2019
Autosomal recessive proximal renal tubular acidosis2Oct 22, 2019
Autosomal recessive pseudohypoaldosteronism type 15Oct 22, 2019
Autosomal recessive spastic paraplegia type 762Oct 22, 2019
Autosomal recessive spinocerebellar ataxia 111Oct 22, 2019
Autosomal recessive spinocerebellar ataxia 131Oct 22, 2019
Autosomal recessive spinocerebellar ataxia 161Oct 22, 2019
Autosomal recessive spinocerebellar ataxia 171May 21, 2022
Autosomal recessive spinocerebellar ataxia 201Oct 22, 2019
Axenfeld-Rieger syndrome type 11Oct 22, 2019
B4GALT1-congenital disorder of glycosylation1Oct 22, 2019
BAP1-related tumor predisposition syndrome14Oct 22, 2019
BLOOD GROUP--DIEGO SYSTEM1May 21, 2022
BLOOD GROUP--LUTHERAN INHIBITOR4Oct 22, 2019
Baller-Gerold syndrome7May 21, 2022
Bamforth-Lazarus syndrome1Apr 10, 2024
Baraitser-Winter syndrome 12Mar 11, 2023
Baralle-Macken syndrome1Jan 23, 2024
Bardet-Biedl syndrome 14May 21, 2022
Bardet-Biedl syndrome 103Oct 22, 2019
Bardet-Biedl syndrome 131Oct 22, 2019
Bardet-Biedl syndrome 23Oct 22, 2019
Bardet-Biedl syndrome 41Oct 22, 2019
Bardet-Biedl syndrome 51May 21, 2022
Bardet-Biedl syndrome 93May 21, 2022
Bartter disease type 14May 21, 2022
Bartter disease type 311Nov 27, 2023
Bartter disease type 4A1Oct 22, 2019
Bartter disease type 4B2Oct 22, 2019
Basal laminar drusen2Oct 22, 2019
Beaded hair1May 21, 2022
Becker muscular dystrophy75May 21, 2022
Beckwith-Wiedemann syndrome2May 21, 2022
Benign familial hematuria3May 21, 2022
Benign hereditary chorea3May 21, 2022
Bernard Soulier syndrome1Oct 22, 2019
Bernard-Soulier syndrome, type A2, autosomal dominant1May 21, 2022
Beta-thalassemia HBB/LCRB1Aug 22, 2023
Bethlem myopathy 1A28May 21, 2022
Bietti crystalline corneoretinal dystrophy4May 21, 2022
Bifunctional peroxisomal enzyme deficiency3Oct 22, 2019
Biotin-responsive basal ganglia disease2Oct 22, 2019
Biotinidase deficiency20May 21, 2022
Birk-Barel syndrome1Oct 22, 2019
Birt-Hogg-Dube syndrome6Aug 22, 2023
Blau syndrome2Oct 22, 2019
Bleeding disorder, platelet-type, 13, susceptibility to1Oct 22, 2019
Blepharophimosis - intellectual disability syndrome, MKB type1May 21, 2022
Blepharophimosis, ptosis, and epicanthus inversus syndrome2Oct 22, 2019
Bloom syndrome80Apr 10, 2024
Bohring-Opitz syndrome3May 21, 2022
Bone fragility with contractures, arterial rupture, and deafness1May 21, 2022
Bone marrow failure syndrome 31Oct 22, 2019
Bone mineral density quantitative trait locus 181Oct 22, 2019
Bosch-Boonstra-Schaaf optic atrophy syndrome1May 21, 2022
Brachyolmia-amelogenesis imperfecta syndrome1May 21, 2022
Brain small vessel disease 1 with or without ocular anomalies3May 21, 2022
Brain-lung-thyroid syndrome8Oct 22, 2019
Branchiooculofacial syndrome1Oct 22, 2019
Branchiootorenal syndrome 21Oct 22, 2019
Breast-ovarian cancer, familial, susceptibility to, 1196Apr 10, 2024
Breast-ovarian cancer, familial, susceptibility to, 2349Apr 10, 2024
Breast-ovarian cancer, familial, susceptibility to, 431Oct 22, 2019
Breasts and/or nipples, aplasia or hypoplasia of, 21Oct 22, 2019
Brittle cornea syndrome 12Oct 22, 2019
Bronchiectasis with or without elevated sweat chloride 11Aug 22, 2023
Brown-Vialetto-van Laere syndrome 11Oct 22, 2019
Brown-Vialetto-van Laere syndrome 22Oct 22, 2019
Brugada syndrome 167Aug 22, 2023
Brugada syndrome 42Oct 22, 2019
Brugada syndrome 52Oct 22, 2019
Brugada syndrome 82Oct 22, 2019
Bullous ichthyosiform erythroderma1May 21, 2022
Buratti-Harel syndrome1May 21, 2022
C1Q deficiency1May 21, 2022
CBL-related disorder1Oct 22, 2019
CFHR5 deficiency1Oct 22, 2019
CHARGE syndrome16May 21, 2022
COG1 congenital disorder of glycosylation1Oct 22, 2019
COG4-congenital disorder of glycosylation2Oct 22, 2019
COG5-congenital disorder of glycosylation1Aug 22, 2023
COG6-ongenital disorder of glycosylation2Oct 22, 2019
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome1Oct 22, 2019
Camptomelic dysplasia1Oct 22, 2019
Candidiasis, familial, 91Oct 22, 2019
Capillary malformation-arteriovenous malformation 11Oct 22, 2019
Carcinoma of colon2Oct 22, 2019
Cardiac anomalies - developmental delay - facial dysmorphism syndrome1May 21, 2022
Cardiac arrhythmia, ankyrin-B-related3Oct 22, 2019
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies1Oct 22, 2019
Cardiac, facial, and digital anomalies with developmental delay1Oct 22, 2019
Cardiac-urogenital syndrome1Oct 22, 2019
Cardiofaciocutaneous syndrome 18Oct 22, 2019
Cardiofaciocutaneous syndrome 31Oct 22, 2019
Cardiofaciocutaneous syndrome 41Oct 22, 2019
Cardiomyopathy, familial restrictive, 11May 21, 2022
Cardiospondylocarpofacial syndrome1May 21, 2022
Carney complex, type 12Oct 22, 2019
Carney-Stratakis syndrome2Oct 22, 2019
Carnitine palmitoyl transferase 1A deficiency1Oct 22, 2019
Carnitine palmitoyl transferase II deficiency, myopathic form2May 21, 2022
Carnitine palmitoyl transferase II deficiency, severe infantile form3Oct 22, 2019
Cataract 19 multiple types1May 21, 2022
Cataract 2, multiple types1Oct 22, 2019
Cataract 21 multiple types1Oct 22, 2019
Cataract 39 multiple types1Oct 22, 2019
Cataract 411May 21, 2022
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome2Oct 22, 2019
Catecholaminergic polymorphic ventricular tachycardia 16Aug 22, 2023
Catecholaminergic polymorphic ventricular tachycardia 21Oct 22, 2019
Catecholaminergic polymorphic ventricular tachycardia 51Oct 22, 2019
Central core myopathy1May 21, 2022
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects1May 21, 2022
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 42Oct 22, 2019
Cerebellar ataxia-hypogonadism syndrome1Oct 22, 2019
Cerebellar atrophy, visual impairment, and psychomotor retardation;2Oct 22, 2019
Cerebellar dysfunction with variable cognitive and behavioral abnormalities3May 21, 2022
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 115May 21, 2022
Cerebral arteriovenous malformation1Oct 22, 2019
Cerebral cavernous malformation1Oct 22, 2019
Cerebral folate transport deficiency1May 21, 2022
Cerebroretinal microangiopathy with calcifications and cysts 14May 21, 2022
Ceroid lipofuscinosis, neuronal, 6A1Jun 21, 2015
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)6May 21, 2022
Channelopathy-associated congenital insensitivity to pain, autosomal recessive1Jun 21, 2015
Charcot-Marie-Tooth disease X-linked dominant 114May 21, 2022
Charcot-Marie-Tooth disease axonal type 2C4Oct 22, 2019
Charcot-Marie-Tooth disease axonal type 2K1Oct 29, 2019
Charcot-Marie-Tooth disease axonal type 2N6May 21, 2022
Charcot-Marie-Tooth disease axonal type 2O7Oct 22, 2019
Charcot-Marie-Tooth disease axonal type 2P3May 21, 2022
Charcot-Marie-Tooth disease axonal type 2Z4Dec 19, 2023
Charcot-Marie-Tooth disease dominant intermediate B1Oct 22, 2019
Charcot-Marie-Tooth disease type 1B7May 21, 2022
Charcot-Marie-Tooth disease type 1D1Oct 22, 2019
Charcot-Marie-Tooth disease type 2A211Aug 22, 2023
Charcot-Marie-Tooth disease type 2D1Oct 29, 2019
Charcot-Marie-Tooth disease type 2E2May 21, 2022
Charcot-Marie-Tooth disease type 4A3May 21, 2022
Charcot-Marie-Tooth disease type 4B12May 21, 2022
Charcot-Marie-Tooth disease type 4B22May 21, 2022
Charcot-Marie-Tooth disease type 4C5May 21, 2022
Charcot-Marie-Tooth disease type 4G1Oct 22, 2019
Charcot-Marie-Tooth disease type 4H1Oct 22, 2019
Charcot-marie-tooth disease, axonal, type 2DD1May 21, 2022
Charlevoix-Saguenay spastic ataxia7May 21, 2022
Child syndrome1Oct 22, 2019
Childhood apraxia of speech1Oct 22, 2019
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome1May 21, 2022
Cholestanol storage disease6May 21, 2022
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss1May 21, 2022
Cholestasis, progressive familial intrahepatic, 81May 21, 2022
Chondrocalcinosis 21May 21, 2022
Chondrodysplasia punctata 2 X-linked dominant3Oct 22, 2019
Choroideremia10May 21, 2022
Christianson syndrome3Oct 22, 2019
Chromosome 2q32-q33 deletion syndrome3Oct 22, 2019
Chromosome 2q37 deletion syndrome2Oct 22, 2019
Chronic and progressive ataxia1Jan 5, 2015
Chédiak-Higashi syndrome3Oct 22, 2019
Citrullinemia type I5May 21, 2022
Clark-Baraitser syndrome4Oct 22, 2019
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency12May 24, 2022
Classic homocystinuria4Oct 22, 2019
Cleft lip/palate-ectodermal dysplasia syndrome1Oct 22, 2019
Cleft palate with or without ankyloglossia, X-linked2Oct 22, 2019
Cleidocranial dysostosis3May 21, 2022
Cobalamin C disease3Oct 22, 2019
Coffin-Lowry syndrome3Aug 22, 2023
Coffin-Siris syndrome 19May 21, 2022
Coffin-Siris syndrome 101May 21, 2022
Coffin-Siris syndrome 121May 21, 2022
Coffin-Siris syndrome 62Oct 22, 2019
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome2Oct 22, 2019
Cognitive impairment with or without cerebellar ataxia7May 21, 2022
Cohen syndrome12Aug 22, 2023
Cohen-Gibson syndrome1Oct 22, 2019
Cole-Carpenter syndrome 21Oct 22, 2019
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome1Oct 22, 2019
Colorectal cancer12Aug 22, 2023
Colorectal cancer, hereditary nonpolyposis, type 274Apr 10, 2024
Colorectal cancer, susceptibility to, 1043Oct 22, 2019
Colorectal cancer, susceptibility to, 1249Apr 10, 2024
Combined immunodeficiency due to DOCK8 deficiency4May 21, 2022
Combined immunodeficiency due to LRBA deficiency4Oct 22, 2019
Combined immunodeficiency due to moesin deficiency1Oct 22, 2019
Combined immunodeficiency with skin granulomas3Oct 22, 2019
Combined oxidative phosphorylation defect type 112Oct 22, 2019
Combined oxidative phosphorylation defect type 131Oct 22, 2019
Combined oxidative phosphorylation defect type 141Oct 22, 2019
Combined oxidative phosphorylation defect type 172Oct 22, 2019
Combined oxidative phosphorylation defect type 206Oct 22, 2019
Combined oxidative phosphorylation defect type 242Oct 22, 2019
Combined oxidative phosphorylation defect type 86May 21, 2022
Combined oxidative phosphorylation deficiency 351May 21, 2022
Combined oxidative phosphorylation deficiency 431Oct 21, 2022
Combined oxidative phosphorylation deficiency 441May 21, 2022
Complement component 2 deficiency5May 21, 2022
Complement component 6 deficiency2May 21, 2022
Complement component C1s deficiency1Oct 22, 2019
Complete trisomy 21 syndrome1May 21, 2022
Complex cortical dysplasia with other brain malformations 21Oct 22, 2019
Complex cortical dysplasia with other brain malformations 53May 28, 2022
Complex cortical dysplasia with other brain malformations 61Oct 22, 2019
Complex cortical dysplasia with other brain malformations 72May 21, 2022
Compton-North congenital myopathy1Oct 22, 2019
Cone dystrophy 35Dec 29, 2023
Cone dystrophy 42Oct 22, 2019
Cone-rod dystrophy 155Oct 22, 2019
Cone-rod dystrophy 161Oct 22, 2019
Cone-rod dystrophy 23May 21, 2022
Cone-rod dystrophy 221May 21, 2022
Cone-rod dystrophy 611Oct 7, 2022
Cone-rod dystrophy 71Oct 22, 2019
Cone-rod synaptic disorder, congenital nonprogressive1Oct 22, 2019
Congenital adrenal hypoplasia, X-linked1Oct 22, 2019
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency2May 21, 2022
Congenital afibrinogenemia2May 21, 2022
Congenital anomalies of kidney and urinary tract 11Oct 22, 2019
Congenital anomalies of kidney and urinary tract 21Oct 22, 2019
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay1May 21, 2022
Congenital bile acid synthesis defect 21Oct 22, 2019
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome3May 28, 2024
Congenital cataracts-facial dysmorphism-neuropathy syndrome1Oct 22, 2019
Congenital central hypoventilation1Oct 22, 2019
Congenital contractural arachnodactyly4Oct 22, 2019
Congenital contractures of the limbs and face, hypotonia, and developmental delay2Oct 22, 2019
Congenital diarrhea 5 with tufting enteropathy9Oct 22, 2019
Congenital diarrhea 7 with exudative enteropathy4May 21, 2022
Congenital disorder of glycosylation type 1E2May 21, 2022
Congenital disorder of glycosylation, type IAA1Oct 22, 2019
Congenital dyserythropoietic anemia, type II3May 21, 2022
Congenital factor VII deficiency1Sep 5, 2023
Congenital generalized lipodystrophy type 13May 21, 2022
Congenital generalized lipodystrophy type 26May 21, 2022
Congenital glucose-galactose malabsorption4May 21, 2022
Congenital heart defects and ectodermal dysplasia1Oct 22, 2019
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder2May 21, 2022
Congenital heart defects, multiple types, 21May 21, 2022
Congenital hyperammonemia, type I13May 21, 2022
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome3Oct 22, 2019
Congenital microvillous atrophy5May 21, 2022
Congenital muscular dystrophy due to integrin alpha-7 deficiency1Oct 22, 2019
Congenital muscular hypertrophy-cerebral syndrome7May 21, 2022
Congenital myasthenic syndrome 102May 21, 2022
Congenital myasthenic syndrome 182May 21, 2022
Congenital myasthenic syndrome 2A1Oct 22, 2019
Congenital myasthenic syndrome 4A2May 21, 2022
Congenital myasthenic syndrome 4C1May 21, 2022
Congenital myasthenic syndrome 54May 21, 2022
Congenital myasthenic syndrome 82Oct 22, 2019
Congenital myopathy 4B, autosomal recessive2Oct 22, 2019
Congenital myotonia, autosomal dominant form2May 21, 2022
Congenital myotonia, autosomal recessive form4Oct 22, 2019
Congenital nongoitrous hypothyroidism 61Oct 22, 2019
Congenital secretory diarrhea, chloride type2Oct 22, 2019
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome1Oct 22, 2019
Congenital stationary night blindness 1C1Oct 22, 2019
Congenital stationary night blindness 1D1Oct 22, 2019
Congenital stationary night blindness 2A4Aug 22, 2023
Congenital stationary night blindness autosomal dominant 21May 21, 2022
Corneal dystrophy, Fuchs endothelial, 62Dec 24, 2023
Corneal dystrophy, Fuchs endothelial, 83Dec 12, 2023
Corneal dystrophy, posterior polymorphous, 41Oct 22, 2019
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome1Oct 22, 2019
Cornelia de Lange syndrome 18May 21, 2022
Cornelia de Lange syndrome 34May 21, 2022
Cornelia de Lange syndrome 42Oct 22, 2019
Cornelia de Lange syndrome 53May 21, 2022
Corpus callosum agenesis-abnormal genitalia syndrome4May 21, 2022
Cortical dysplasia-focal epilepsy syndrome3Oct 22, 2019
Corticosterone methyloxidase type 2 deficiency1Oct 22, 2019
Cortisone reductase deficiency 11Oct 22, 2019
Cortisone reductase deficiency 21Jan 23, 2024
Cowden syndrome5Aug 20, 2018
Cowden syndrome 119Apr 21, 2023
Cowden syndrome 69Aug 22, 2023
Coxopodopatellar syndrome1May 21, 2022
Cranioectodermal dysplasia 12May 21, 2022
Cranioectodermal dysplasia 22Oct 22, 2019
Craniofacial-deafness-hand syndrome1May 21, 2022
Craniofrontonasal syndrome1May 21, 2022
Creatine transporter deficiency3May 21, 2022
Crigler-Najjar syndrome, type II3Jun 19, 2023
Crouzon syndrome2Oct 22, 2019
Currarino triad1May 21, 2022
Curry-Hall syndrome1Oct 22, 2019
Curry-Jones syndrome1Oct 22, 2019
Cutis laxa, autosomal dominant 11Jun 21, 2015
Cutis laxa, autosomal recessive, type 1B1May 21, 2022
Cyclical neutropenia6May 21, 2022
Cystic fibrosis315May 23, 2024
Cystinuria2May 21, 2022
D-2-hydroxyglutaric aciduria 12Oct 22, 2019
D-2-hydroxyglutaric aciduria 21Oct 22, 2019
DE SANCTIS-CACCHIONE SYNDROME6Aug 22, 2023
DICER1-related tumor predisposition6Oct 22, 2019
DOCK2 deficiency3Oct 22, 2019
DOORS syndrome1May 21, 2022
DPAGT1-congenital disorder of glycosylation3May 21, 2022
DYRK1A-related intellectual disability syndrome2May 21, 2022
Danon disease2May 21, 2022
De Lange syndrome1May 21, 2022
Deafness dystonia syndrome2May 21, 2022
Deafness, X-linked 52Oct 22, 2019
Deafness-lymphedema-leukemia syndrome6Oct 22, 2019
Deficiency of 2-methylbutyryl-CoA dehydrogenase1Oct 22, 2019
Deficiency of 3-hydroxyacyl-CoA dehydrogenase3May 21, 2022
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase15Jun 2, 2023
Deficiency of acetyl-CoA acetyltransferase1Oct 22, 2019
Deficiency of aromatic-L-amino-acid decarboxylase6Jul 7, 2023
Deficiency of beta-ureidopropionase2Jun 19, 2023
Deficiency of butyryl-CoA dehydrogenase2Aug 22, 2023
Deficiency of cytochrome-b5 reductase2Oct 29, 2019
Deficiency of ferroxidase3May 21, 2022
Deficiency of galactokinase4Oct 22, 2019
Deficiency of hydroxymethylglutaryl-CoA lyase3May 21, 2022
Deficiency of iodide peroxidase2Oct 22, 2019
Deficiency of malonyl-CoA decarboxylase1Oct 22, 2019
Deficiency of phosphoserine phosphatase2Oct 22, 2019
Dejerine-Sottas disease2May 21, 2022
Dent disease type 11May 21, 2022
Dent disease type 23May 21, 2022
Dentatorubral-pallidoluysian atrophy1May 21, 2022
Dentinogenesis imperfecta type 21Oct 22, 2019
Dermatopathia pigmentosa reticularis3May 21, 2022
Desbuquois dysplasia 11May 21, 2022
Desmin-related myofibrillar myopathy4Oct 22, 2019
Developmental and epileptic encephalopathy 947Mar 30, 2023
Developmental and epileptic encephalopathy 971May 21, 2022
Developmental and epileptic encephalopathy, 19Oct 22, 2019
Developmental and epileptic encephalopathy, 111Apr 28, 2023
Developmental and epileptic encephalopathy, 1313Oct 22, 2019
Developmental and epileptic encephalopathy, 1413May 21, 2022
Developmental and epileptic encephalopathy, 179May 21, 2022
Developmental and epileptic encephalopathy, 191Nov 15, 2015
Developmental and epileptic encephalopathy, 226May 21, 2022
Developmental and epileptic encephalopathy, 232Oct 22, 2019
Developmental and epileptic encephalopathy, 242Oct 22, 2019
Developmental and epileptic encephalopathy, 256Oct 25, 2022
Developmental and epileptic encephalopathy, 267May 21, 2022
Developmental and epileptic encephalopathy, 303May 21, 2022
Developmental and epileptic encephalopathy, 312Oct 22, 2019
Developmental and epileptic encephalopathy, 322Oct 22, 2019
Developmental and epileptic encephalopathy, 331Oct 22, 2019
Developmental and epileptic encephalopathy, 341Oct 22, 2019
Developmental and epileptic encephalopathy, 362May 21, 2022
Developmental and epileptic encephalopathy, 371Oct 22, 2019
Developmental and epileptic encephalopathy, 412May 21, 2022
Developmental and epileptic encephalopathy, 443May 21, 2022
Developmental and epileptic encephalopathy, 463May 21, 2022
Developmental and epileptic encephalopathy, 481Oct 22, 2019
Developmental and epileptic encephalopathy, 54May 21, 2022
Developmental and epileptic encephalopathy, 503Oct 22, 2019
Developmental and epileptic encephalopathy, 548May 21, 2022
Developmental and epileptic encephalopathy, 552Oct 22, 2019
Developmental and epileptic encephalopathy, 562Oct 22, 2019
Developmental and epileptic encephalopathy, 572May 21, 2022
Developmental and epileptic encephalopathy, 622Oct 22, 2019
Developmental and epileptic encephalopathy, 652Oct 22, 2019
Developmental and epileptic encephalopathy, 661Oct 22, 2019
Developmental and epileptic encephalopathy, 671Oct 22, 2019
Developmental and epileptic encephalopathy, 681Jan 23, 2024
Developmental and epileptic encephalopathy, 692May 21, 2022
Developmental and epileptic encephalopathy, 71May 31, 2016
Developmental and epileptic encephalopathy, 761May 21, 2022
Developmental and epileptic encephalopathy, 791Oct 29, 2019
Developmental and epileptic encephalopathy, 81Oct 22, 2019
Developmental and epileptic encephalopathy, 871May 21, 2022
Developmental and epileptic encephalopathy, 922May 21, 2022
Developmental delay and seizures with or without movement abnormalities1Jul 29, 2020
Developmental delay with autism spectrum disorder and gait instability2Oct 22, 2019
Developmental delay with dysmorphic facies and dental anomalies1May 21, 2022
Developmental delay with or without dysmorphic facies and autism1May 21, 2022
Developmental delay with or without intellectual impairment or behavioral abnormalities1May 21, 2022
Developmental delay with variable intellectual impairment and behavioral abnormalities2May 21, 2022
Developmental delay, impaired speech, and behavioral abnormalities2May 21, 2022
DiGeorge syndrome2Oct 22, 2019
Diabetes insipidus, nephrogenic, X-linked5Oct 22, 2019
Diamond-Blackfan anemia 12Oct 22, 2019
Diamond-Blackfan anemia 61May 21, 2022
Diaphyseal dysplasia3Oct 22, 2019
Diaphyseal medullary stenosis-bone malignancy syndrome1Oct 22, 2019
Dias-Logan syndrome1Oct 22, 2019
Diets-Jongmans syndrome1May 21, 2022
Dihydropteridine reductase deficiency3Oct 22, 2019
Dihydropyrimidine dehydrogenase deficiency2Oct 22, 2019
Dilated cardiomyopathy 1A3May 21, 2022
Dilated cardiomyopathy 1AA1Oct 22, 2019
Dilated cardiomyopathy 1C1May 21, 2022
Dilated cardiomyopathy 1CC1Apr 11, 2023
Dilated cardiomyopathy 1DD4Oct 22, 2019
Dilated cardiomyopathy 1G14Oct 22, 2019
Dilated cardiomyopathy 1JJ1Oct 22, 2019
Dilated cardiomyopathy 1KK1Aug 22, 2023
Dilated cardiomyopathy 1O3Oct 22, 2019
Dilated cardiomyopathy 1R1May 24, 2022
Dilated cardiomyopathy 1W2Aug 22, 2023
Distal 16p11.2 microdeletion syndrome1May 21, 2022
Distal arthrogryposis type 5D2May 21, 2022
Donnai-Barrow syndrome1Oct 22, 2019
Drash syndrome14Oct 22, 2019
Duane-radial ray syndrome1Oct 22, 2019
Dubin-Johnson syndrome1Oct 22, 2019
Duchenne muscular dystrophy233Mar 26, 2024
Dyskeratosis congenita, autosomal dominant 61Oct 22, 2019
Dyskeratosis congenita, autosomal recessive 31Oct 22, 2019
Dyskeratosis congenita, autosomal recessive 55May 21, 2022
Dyskeratosis congenita, autosomal recessive 62Oct 22, 2019
Dyskinesia with orofacial involvement, autosomal dominant10Apr 10, 2023
Dystonia 128May 21, 2022
Dystonia 164May 21, 2022
Dystonia 251Oct 22, 2019
Dystonia 28, childhood-onset1May 21, 2022
Dystonia 53May 21, 2022
Dystonia 911May 21, 2022
EEM syndrome1Oct 22, 2019
Early-onset generalized limb-onset dystonia2May 21, 2022
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis3Jan 23, 2024
Ectodermal dysplasia 4, hair/nail type1Oct 22, 2019
Ectodermal dysplasia and immunodeficiency 11May 21, 2022
Ectopia lentis 2, isolated, autosomal recessive4May 21, 2022
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 33Oct 22, 2019
Ehlers-Danlos syndrome due to tenascin-X deficiency3Oct 22, 2019
Ehlers-Danlos syndrome progeroid type1Oct 22, 2019
Ehlers-Danlos syndrome, classic type13Oct 22, 2019
Ehlers-Danlos syndrome, classic type, 13May 21, 2022
Ehlers-Danlos syndrome, dermatosparaxis type3May 21, 2022
Ehlers-Danlos syndrome, kyphoscoliotic type 12Oct 22, 2019
Ehlers-Danlos syndrome, spondylocheirodysplastic type1Oct 22, 2019
Ehlers-Danlos syndrome, type 46Oct 22, 2019
Eichsfeld type congenital muscular dystrophy1Oct 22, 2019
Elevated circulating creatine kinase concentration2Dec 4, 2022
Elliptocytosis 22Jan 31, 2023
Emery-Dreifuss muscular dystrophy 5, autosomal dominant1Aug 22, 2023
Encephalopathy due to GLUT1 deficiency6Oct 22, 2019
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 16Dec 10, 2022
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities2Oct 22, 2019
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis6Oct 22, 2019
Endometrial carcinoma7Mar 27, 2024
Enhanced S-cone syndrome1Oct 22, 2019
Enterokinase deficiency1Jun 19, 2023
Epidermolysis bullosa simplex 1A, generalized severe2May 21, 2022
Epidermolysis bullosa simplex 1C, localized2Oct 22, 2019
Epidermolysis bullosa simplex 5B, with muscular dystrophy1Oct 22, 2019
Epilepsy5Jan 29, 2019
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders1Oct 22, 2019
Epilepsy, childhood absence 21Oct 22, 2019
Epilepsy, childhood absence, susceptibility to, 11Oct 22, 2019
Epilepsy, childhood absence, susceptibility to, 52May 21, 2022
Epilepsy, early-onset, vitamin B6-dependent2Oct 22, 2019
Epilepsy, familial adult myoclonic, 51Oct 22, 2019
Epilepsy, familial focal, with variable foci 17May 21, 2022
Epilepsy, familial focal, with variable foci 21May 21, 2022
Epilepsy, familial focal, with variable foci 31Oct 22, 2019
Epilepsy, familial focal, with variable foci 41May 21, 2022
Epilepsy, idiopathic generalized, susceptibility to, 131May 21, 2022
Epilepsy, idiopathic generalized, susceptibility to, 151May 21, 2022
Epilepsy, progressive myoclonic, 1B1Aug 14, 2022
Epileptic encephalopathy, infantile or early childhood, 12May 21, 2022
Epileptic encephalopathy, infantile or early childhood, 21May 21, 2022
Epiphyseal dysplasia, multiple, 32Oct 22, 2019
Epiphyseal dysplasia, multiple, 62Oct 22, 2019
Episodic ataxia type 216Aug 22, 2023
Episodic kinesigenic dyskinesia 117May 21, 2022
Epithelial recurrent erosion dystrophy2May 21, 2022
Epsilon-trimethyllysine hydroxylase deficiency1May 21, 2022
Erythrocytosis, familial, 41Apr 10, 2024
Erythrokeratodermia variabilis et progressiva 21May 21, 2022
Essential hypertension, genetic2May 21, 2022
Exercise-induced hyperinsulinism3Oct 22, 2019
Exostoses, multiple, type 14May 21, 2022
Exostoses, multiple, type 23Apr 10, 2024
Exudative vitreoretinopathy 12May 21, 2022
FG syndrome 12Oct 22, 2019
FG syndrome 41May 21, 2022
FRAXE3Oct 22, 2019
Fabry disease12May 21, 2022
Factor V deficiency2Oct 22, 2019
Factor XII deficiency disease1Oct 22, 2019
Familial Mediterranean fever98Aug 22, 2023
Familial Mediterranean fever, autosomal dominant1May 21, 2022
Familial X-linked hypophosphatemic vitamin D refractory rickets107May 21, 2022
Familial acute necrotizing encephalopathy1Oct 22, 2019
Familial adenomatous polyposis 1188Apr 10, 2024
Familial adenomatous polyposis 272Mar 30, 2023
Familial adenomatous polyposis 32May 21, 2022
Familial adenomatous polyposis 42Oct 22, 2019
Familial amyloid neuropathy13Aug 22, 2023
Familial apolipoprotein C-II deficiency1May 21, 2022
Familial cancer of breast408Apr 10, 2024
Familial chronic mucocutaneous candidiasis1Oct 22, 2019
Familial cold autoinflammatory syndrome 12Aug 22, 2023
Familial cold autoinflammatory syndrome 21Oct 22, 2019
Familial colorectal cancer39Apr 10, 2024
Familial dysautonomia2Oct 22, 2019
Familial encephalopathy with neuroserpin inclusion bodies1May 21, 2022
Familial hemophagocytic lymphohistiocytosis 210May 21, 2022
Familial hemophagocytic lymphohistiocytosis 33May 21, 2022
Familial hemophagocytic lymphohistiocytosis 44May 21, 2022
Familial hemophagocytic lymphohistiocytosis 54May 21, 2022
Familial hyperthyroidism due to mutations in TSH receptor2Apr 21, 2023
Familial hypobetalipoproteinemia 11Sep 10, 2023
Familial hypocalciuric hypercalcemia 110May 21, 2022
Familial hypokalemia-hypomagnesemia6May 21, 2022
Familial infantile myasthenia2Oct 22, 2019
Familial isolated deficiency of vitamin E3Oct 22, 2019
Familial juvenile hyperuricemic nephropathy type 13May 21, 2022
Familial medullary thyroid carcinoma15Aug 20, 2018
Familial porphyria cutanea tarda4May 21, 2022
Familial renal glucosuria1Oct 22, 2019
Familial thyroid dyshormonogenesis 11Aug 22, 2023
Familial type 5 hyperlipoproteinemia2May 21, 2022
Familial visceral amyloidosis, Ostertag type2Oct 22, 2019
Fanconi anemia complementation group A99Apr 10, 2024
Fanconi anemia complementation group C15Apr 10, 2024
Fanconi anemia complementation group D22May 21, 2022
Fanconi anemia complementation group E2Oct 22, 2019
Fanconi anemia complementation group J28Aug 22, 2023
Fanconi anemia complementation group O25Oct 22, 2019
Fanconi anemia complementation group U14Oct 22, 2019
Fanconi-Bickel syndrome1Oct 22, 2019
Farber lipogranulomatosis2Oct 22, 2019
Febrile seizures, familial, 111Oct 22, 2019
Febrile seizures, familial, 41May 21, 2022
Febrile seizures, familial, 81May 21, 2022
Feingold syndrome type 11May 21, 2022
Fetal akinesia deformation sequence 16Aug 22, 2023
Fibrochondrogenesis 15Oct 22, 2019
Fibromatosis, gingival, 11May 21, 2022
Finnish congenital nephrotic syndrome5Oct 22, 2019
Floating-Harbor syndrome4Oct 22, 2019
Focal segmental glomerulosclerosis 4, susceptibility to1Mar 24, 2023
Focal segmental glomerulosclerosis 81Oct 22, 2019
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome1May 21, 2022
Fragile X syndrome2Oct 22, 2019
Fraser syndrome 15Oct 22, 2019
Freeman-Sheldon syndrome4Oct 22, 2019
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome1Oct 22, 2019
Frontotemporal dementia8Oct 22, 2019
Fructose-biphosphatase deficiency4May 21, 2022
Fumarase deficiency2Oct 22, 2019
Fundus dystrophy, pseudoinflammatory, recessive form1Oct 22, 2019
GM1 gangliosidosis type 24Oct 22, 2019
GM3 synthase deficiency1Oct 22, 2019
GNPTG-mucolipidosis1May 21, 2022
GRACILE syndrome3Oct 22, 2019
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions5May 21, 2022
GTP cyclohydrolase I deficiency5Nov 8, 2021
Galactosemia 41May 21, 2022
Galactosylceramide beta-galactosidase deficiency14Dec 26, 2023
Galloway-Mowat syndrome 12Oct 22, 2019
Gastrointestinal stromal tumor12Oct 22, 2019
Gaucher disease type I2Feb 11, 2020
Generalized epilepsy with febrile seizures plus, type 242May 21, 2022
Generalized epilepsy with febrile seizures plus, type 91Oct 22, 2019
Generalized epilepsy-paroxysmal dyskinesia syndrome1May 21, 2022
Generalized juvenile polyposis/juvenile polyposis coli5Oct 22, 2019
Genitopatellar syndrome6Oct 22, 2019
Ghosal hematodiaphyseal dysplasia2May 21, 2022
Gilbert syndrome4May 21, 2022
Glaucoma 1, open angle, A1May 21, 2022
Glaucoma 3A1May 21, 2022
Global developmental delay1Oct 29, 2019
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies1May 21, 2022
Glomuvenous malformation1Oct 22, 2019
Glucocorticoid deficiency with achalasia3May 21, 2022
Glucocorticoid resistance1Oct 22, 2019
Glucocorticoid-remediable aldosteronism2May 21, 2022
Glucose-6-phosphate transport defect3May 21, 2022
Glutamate formiminotransferase deficiency1May 21, 2022
Glutaric aciduria, type 114May 21, 2022
Glycogen storage disease IXa115May 21, 2022
Glycogen storage disease IXb1May 21, 2022
Glycogen storage disease IXc5May 21, 2022
Glycogen storage disease IXd3May 21, 2022
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA8May 21, 2022
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1Oct 22, 2019
Glycogen storage disease type III14May 21, 2022
Glycogen storage disease, type II6May 7, 2023
Glycogen storage disease, type IV4May 21, 2022
Glycogen storage disease, type V3Oct 22, 2019
Glycogen storage disease, type VI5Aug 22, 2023
Glycogen storage disorder due to hepatic glycogen synthase deficiency1Oct 22, 2019
Glycosylphosphatidylinositol biosynthesis defect 153May 21, 2022
Gnathodiaphyseal dysplasia12May 21, 2022
Gnb5-related intellectual disability-cardiac arrhythmia syndrome3May 21, 2022
Gorlin syndrome22Aug 22, 2023
Granulomatous disease, chronic, X-linked3Oct 22, 2019
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative1Oct 22, 2019
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 33Oct 22, 2019
Greig cephalopolysyndactyly syndrome5Oct 22, 2019
Griscelli syndrome type 11Oct 22, 2019
Growth delay due to insulin-like growth factor type 1 deficiency1Oct 22, 2019
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1May 21, 2022
HNSHA due to aldolase A deficiency2Oct 22, 2019
Hajdu-Cheney syndrome6May 21, 2022
Harel-Yoon syndrome1May 21, 2022
Hawkinsinuria2Oct 22, 2019
Hecht syndrome1Oct 22, 2019
Heinz body anemia3May 21, 2022
Helicoid peripapillary chorioretinal degeneration1Oct 22, 2019
Hemochromatosis type 17Oct 22, 2019
Hemochromatosis type 41Mar 14, 2023
Hemolytic anemia due to hexokinase deficiency3May 21, 2022
Hennekam lymphangiectasia-lymphedema syndrome 11Oct 22, 2019
Heparin cofactor II deficiency1Oct 22, 2019
Hepatitis C virus, susceptibility to2Aug 22, 2023
Hepatocellular carcinoma5Oct 22, 2019
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 13Oct 22, 2019
Hereditary breast ovarian cancer syndrome158Apr 10, 2024
Hereditary cancer207Apr 10, 2024
Hereditary cancer-predisposing syndrome114Apr 10, 2024
Hereditary coproporphyria1Oct 22, 2019
Hereditary diffuse gastric adenocarcinoma66Aug 22, 2023
Hereditary diffuse leukoencephalopathy with spheroids2May 21, 2022
Hereditary factor IX deficiency disease1Oct 22, 2019
Hereditary factor VIII deficiency disease14Oct 22, 2019
Hereditary factor XI deficiency disease4May 21, 2022
Hereditary fructosuria3May 21, 2022
Hereditary hyperferritinemia with congenital cataracts1Oct 22, 2019
Hereditary insensitivity to pain with anhidrosis14Oct 22, 2019
Hereditary leiomyomatosis and renal cell cancer1May 21, 2022
Hereditary liability to pressure palsies2Aug 22, 2023
Hereditary motor and sensory neuropathy, Okinawa type1Oct 22, 2019
Hereditary nonpolyposis colon cancer18Apr 10, 2024
Hereditary nonpolyposis colorectal neoplasms1Mar 27, 2024
Hereditary pancreatitis40Jun 19, 2023
Hereditary sensory and autonomic neuropathy type 71May 21, 2022
Hereditary spastic paraplegia 1111Oct 22, 2019
Hereditary spastic paraplegia 154May 21, 2022
Hereditary spastic paraplegia 307Oct 22, 2019
Hereditary spastic paraplegia 312Aug 22, 2023
Hereditary spastic paraplegia 331Oct 22, 2019
Hereditary spastic paraplegia 354May 21, 2022
Hereditary spastic paraplegia 3A7May 21, 2022
Hereditary spastic paraplegia 414May 21, 2022
Hereditary spastic paraplegia 452May 21, 2022
Hereditary spastic paraplegia 472May 21, 2022
Hereditary spastic paraplegia 481Oct 22, 2019
Hereditary spastic paraplegia 511Oct 22, 2019
Hereditary spastic paraplegia 561Jun 21, 2015
Hereditary spastic paraplegia 642Oct 22, 2019
Hereditary spastic paraplegia 76May 21, 2022
Hereditary spherocytosis type 13Oct 22, 2019
Hereditary spherocytosis type 21Apr 21, 2023
Hereditary spherocytosis type 44Aug 22, 2023
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX11Oct 22, 2019
Heterotaxy, visceral, 1, X-linked1Oct 22, 2019
Heterotaxy, visceral, 2, autosomal2Oct 22, 2019
Heterotaxy, visceral, 4, autosomal1Oct 22, 2019
Heterotopia, periventricular, X-linked dominant1Oct 22, 2019
Hidrotic ectodermal dysplasia syndrome1Oct 22, 2019
Hirschsprung disease, susceptibility to, 31Oct 22, 2019
Hogue-Janssens syndrome 15May 21, 2022
Holocarboxylase synthetase deficiency3May 21, 2022
Holoprosencephaly 15Aug 22, 2023
Holoprosencephaly 21May 21, 2022
Holoprosencephaly 91May 21, 2022
Holt-Oram syndrome7Aug 22, 2023
Houge-Janssens syndrome 22Oct 22, 2019
Huntington disease-like 14Oct 22, 2019
Hurler syndrome7Mar 11, 2023
Hutchinson-Gilford syndrome5Oct 22, 2019
Hyaline fibromatosis syndrome1Oct 22, 2019
Hydrocephalus, nonsyndromic, autosomal recessive 21Oct 22, 2019
Hydrolethalus syndrome 11Oct 22, 2019
Hydrops fetalis2Oct 8, 2018
Hydroxykynureninuria1May 21, 2022
Hyper-IgE recurrent infection syndrome 1, autosomal dominant2Oct 22, 2019
Hyper-IgM syndrome type 21Oct 22, 2019
Hypercholanemia, familial 12May 21, 2022
Hypercholesterolemia, autosomal dominant, 32Aug 22, 2023
Hypercholesterolemia, autosomal dominant, type B6May 21, 2022
Hypercholesterolemia, familial, 124Aug 22, 2023
Hyperekplexia 11Oct 22, 2019
Hyperekplexia 21Oct 22, 2019
Hyperekplexia 34Oct 22, 2019
Hyperglycinuria2Oct 22, 2019
Hyperimmunoglobulin D with periodic fever3Oct 22, 2019
Hyperinsulinemic hypoglycemia, familial, 19Aug 22, 2023
Hyperinsulinism-hyperammonemia syndrome1May 21, 2022
Hyperlipidemia, familial combined, LPL related11May 21, 2022
Hyperlipoproteinemia, type 1D1May 21, 2022
Hyperlipoproteinemia, type I2Oct 22, 2019
Hyperparathyroidism, transient neonatal1May 21, 2022
Hyperphenylalaninemia due to DNAJC12 deficiency1Oct 22, 2019
Hyperphosphatasemia with bone disease1Oct 22, 2019
Hyperphosphatasia with intellectual disability syndrome 21Oct 22, 2019
Hyperphosphatasia with intellectual disability syndrome 34Oct 22, 2019
Hypertrophic cardiomyopathy 120Aug 22, 2023
Hypertrophic cardiomyopathy 102Oct 22, 2019
Hypertrophic cardiomyopathy 144Aug 22, 2023
Hypertrophic cardiomyopathy 181May 31, 2016
Hypertrophic cardiomyopathy 25Oct 22, 2019
Hypertrophic cardiomyopathy 251Oct 22, 2019
Hypertrophic cardiomyopathy 446Aug 22, 2023
Hypertrophic cardiomyopathy 81May 21, 2022
Hyperuricemic nephropathy, familial juvenile type 41May 21, 2022
Hypochondroplasia6Jun 2, 2023
Hypogonadotropic hypogonadism 1 with or without anosmia2May 21, 2022
Hypogonadotropic hypogonadism 13 with or without anosmia1Oct 22, 2019
Hypogonadotropic hypogonadism 14 with or without anosmia1Aug 22, 2023
Hypogonadotropic hypogonadism 16 with or without anosmia3Oct 22, 2019
Hypogonadotropic hypogonadism 19 with or without anosmia1Oct 22, 2019
Hypogonadotropic hypogonadism 3 with or without anosmia3May 21, 2022
Hypogonadotropic hypogonadism 4 with or without anosmia2May 21, 2022
Hypogonadotropic hypogonadism 7 with or without anosmia5Aug 22, 2023
Hypohidrotic X-linked ectodermal dysplasia5Oct 22, 2019
Hypokalemic periodic paralysis, type 13May 31, 2022
Hypomagnesemia, seizures, and intellectual disability 11Oct 22, 2019
Hypomyelinating leukodystrophy 24Oct 22, 2019
Hypomyelinating leukodystrophy 31May 21, 2022
Hypomyelinating leukodystrophy 61Oct 22, 2019
Hypomyelinating leukodystrophy 91Oct 29, 2019
Hypoparathyroidism, deafness, renal disease syndrome4May 21, 2022
Hypophosphatemic nephrolithiasis/osteoporosis 21Oct 22, 2019
Hypophosphatemic rickets, autosomal recessive, 11Oct 22, 2019
Hypoplastic enamel-onycholysis-hypohidrosis syndrome2Oct 22, 2019
Hypospadias 2, X-linked2Jan 8, 2024
Hypothyroidism, congenital, nongoitrous, 24Oct 22, 2019
Hypotonia, ataxia, and delayed development syndrome4May 21, 2022
Hypotonia, infantile, with psychomotor retardation and characteristic facies 24Oct 22, 2019
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31Oct 22, 2019
Hypotrichosis 81May 21, 2022
Ichthyosis bullosa of Siemens1May 21, 2022
Ichthyosis prematurity syndrome3May 21, 2022
Ichthyosis vulgaris24May 21, 2022
Idiopathic CD4 lymphocytopenia2Oct 22, 2019
Idiopathic generalized epilepsy1Oct 22, 2019
Imagawa-Matsumoto syndrome2May 21, 2022
Imerslund-Grasbeck syndrome2Oct 22, 2019
Immunodeficiency 1042Oct 22, 2019
Immunodeficiency 141Oct 22, 2019
Immunodeficiency 27A4May 21, 2022
Immunodeficiency 31B4May 21, 2022
Immunodeficiency 451Jan 23, 2024
Immunodeficiency 491May 21, 2022
Immunodeficiency due to CD25 deficiency1Oct 22, 2019
Immunodeficiency due to ficolin3 deficiency1Oct 22, 2019
Immunodeficiency, common variable, 101Oct 22, 2019
Immunodeficiency, common variable, 121May 21, 2022
Immunodeficiency, common variable, 24May 21, 2022
Immunodeficiency-centromeric instability-facial anomalies syndrome 11Oct 22, 2019
Inborn glycerol kinase deficiency1May 21, 2022
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 11Nov 15, 2015
Infantile GM1 gangliosidosis3May 21, 2022
Infantile cerebellar-retinal degeneration4Oct 22, 2019
Infantile cortical hyperostosis6May 21, 2022
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome1May 21, 2022
Infantile liver failure syndrome 11Oct 29, 2019
Infantile liver failure syndrome 25Oct 22, 2019
Infantile nephronophthisis2Oct 22, 2019
Infantile neuroaxonal dystrophy18May 21, 2022
Infantile-onset ascending hereditary spastic paralysis3Oct 22, 2019
Inflammatory bowel disease 251Oct 22, 2019
Inflammatory bowel disease 281Oct 22, 2019
Inherited Creutzfeldt-Jakob disease1May 21, 2022
Inherited obesity1Aug 22, 2023
Inosine triphosphatase deficiency2Oct 22, 2019
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1May 21, 2022
Insulin-resistant diabetes mellitus AND acanthosis nigricans9Oct 22, 2019
Intellectual developmental disorder with autism and macrocephaly2May 21, 2022
Intellectual developmental disorder with dysmorphic facies and ptosis3May 21, 2022
Intellectual developmental disorder with macrocephaly, seizures, and speech delay1May 21, 2022
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia1Oct 22, 2019
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies1May 21, 2022
Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type1May 21, 2022
Intellectual developmental disorder, autosomal dominant 641Jan 23, 2024
Intellectual developmental disorder, autosomal recessive 721May 21, 2022
Intellectual disability1Oct 29, 2019
Intellectual disability, X-linked 17May 21, 2022
Intellectual disability, X-linked 1001Sep 11, 2023
Intellectual disability, X-linked 1026May 21, 2022
Intellectual disability, X-linked 191May 21, 2022
Intellectual disability, X-linked 211Oct 22, 2019
Intellectual disability, X-linked 462Oct 22, 2019
Intellectual disability, X-linked 501May 21, 2022
Intellectual disability, X-linked 581Oct 22, 2019
Intellectual disability, X-linked 933Jul 18, 2020
Intellectual disability, X-linked 991May 21, 2022
Intellectual disability, X-linked syndromic, Turner type2May 21, 2022
Intellectual disability, X-linked, syndromic 332May 21, 2022
Intellectual disability, X-linked, syndromic, Bain type1Oct 22, 2019
Intellectual disability, X-linked, with panhypopituitarism1Oct 22, 2019
Intellectual disability, autosomal dominant 15Oct 22, 2019
Intellectual disability, autosomal dominant 131Jan 5, 2015
Intellectual disability, autosomal dominant 144May 21, 2022
Intellectual disability, autosomal dominant 204May 21, 2022
Intellectual disability, autosomal dominant 223May 21, 2022
Intellectual disability, autosomal dominant 245May 21, 2022
Intellectual disability, autosomal dominant 273May 21, 2022
Intellectual disability, autosomal dominant 33Oct 22, 2019
Intellectual disability, autosomal dominant 333Oct 22, 2019
Intellectual disability, autosomal dominant 341Oct 29, 2019
Intellectual disability, autosomal dominant 393May 21, 2022
Intellectual disability, autosomal dominant 431May 21, 2022
Intellectual disability, autosomal dominant 452Oct 22, 2019
Intellectual disability, autosomal dominant 462May 21, 2022
Intellectual disability, autosomal dominant 471Oct 22, 2019
Intellectual disability, autosomal dominant 482May 21, 2022
Intellectual disability, autosomal dominant 510May 21, 2022
Intellectual disability, autosomal dominant 511Oct 22, 2019
Intellectual disability, autosomal dominant 521Oct 22, 2019
Intellectual disability, autosomal dominant 563May 21, 2022
Intellectual disability, autosomal dominant 617May 21, 2022
Intellectual disability, autosomal dominant 83May 21, 2022
Intellectual disability, autosomal recessive 131May 21, 2022
Intellectual disability, autosomal recessive 181Oct 22, 2019
Intellectual disability, autosomal recessive 423Oct 22, 2019
Intellectual disability, autosomal recessive 641May 21, 2022
Intellectual disability, autosomal recessive 71Oct 22, 2019
Intellectual disability-epilepsy-extrapyramidal syndrome1May 23, 2024
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency3May 21, 2022
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome3Oct 22, 2019
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome4Oct 22, 2019
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome5May 21, 2022
Intellectual disability-severe speech delay-mild dysmorphism syndrome9May 21, 2022
Interstitial lung disease 29Oct 22, 2019
Interstitial lung disease due to ABCA3 deficiency4Aug 22, 2023
Iodotyrosyl coupling defect3Oct 22, 2019
Irido-corneo-trabecular dysgenesis2Aug 22, 2023
Isolated focal cortical dysplasia type II1May 21, 2022
Isolated microphthalmia 61Oct 22, 2019
Isovaleryl-CoA dehydrogenase deficiency3Oct 22, 2019
Jalili syndrome1Oct 22, 2019
Joubert syndrome 146Dec 21, 2023
Joubert syndrome 171Sep 16, 2020
Joubert syndrome 202Oct 22, 2019
Joubert syndrome 233Oct 22, 2019
Joubert syndrome 51May 21, 2022
Joubert syndrome 91Jun 21, 2015
Junctional epidermolysis bullosa gravis of Herlitz1May 21, 2022
Junctional epidermolysis bullosa with pyloric atresia2Oct 22, 2019
Juvenile myelomonocytic leukemia1May 21, 2022
Juvenile myoclonic epilepsy3Oct 22, 2019
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke24Jun 19, 2023
KBG syndrome1May 21, 2022
Kabuki syndrome 124Aug 22, 2023
Keratoconus 11Oct 22, 2019
Keratosis follicularis3Oct 22, 2019
Kleefstra syndrome 110May 21, 2022
Kleefstra syndrome 22May 21, 2022
Knobloch syndrome8May 21, 2022
Koolen-de Vries syndrome6May 21, 2022
Kufor-Rakeb syndrome2May 21, 2022
L-2-hydroxyglutaric aciduria1Oct 22, 2019
LEOPARD syndrome 11May 21, 2022
LEOPARD syndrome 25Aug 22, 2023
LIPE-related familial partial lipodystrophy1Mar 24, 2023
Lafora disease1May 21, 2022
Lamb-Shaffer syndrome2May 21, 2022
Landau-Kleffner syndrome17May 21, 2022
Landsteiner-Wiener phenotype1Oct 22, 2019
Laron-type isolated somatotropin defect1Oct 22, 2019
Larsen syndrome2Oct 22, 2019
Larsen-like syndrome, B3GAT3 type1Oct 22, 2019
Leber congenital amaurosis 152Apr 5, 2023
Leber congenital amaurosis 1310May 21, 2022
Leber congenital amaurosis 210Aug 22, 2023
Leber congenital amaurosis 31May 21, 2022
Leber congenital amaurosis 61Feb 28, 2024
Leber congenital amaurosis 81Jul 18, 2020
Leber congenital amaurosis 91May 21, 2022
Leber optic atrophy30Apr 21, 2023
Left ventricular noncompaction 81Oct 22, 2019
Legius syndrome2Oct 22, 2019
Leigh syndrome16Oct 22, 2019
Lenz-Majewski hyperostosis syndrome1Oct 22, 2019
Leri-Weill dyschondrosteosis14Sep 26, 2023
Lesch-Nyhan syndrome5May 21, 2022
Lethal Kniest-like syndrome1May 21, 2022
Lethal congenital contracture syndrome 61Oct 22, 2019
Lethal congenital contracture syndrome 92Oct 22, 2019
Lethal multiple pterygium syndrome3Oct 22, 2019
Lethal osteosclerotic bone dysplasia1Oct 22, 2019
Lethal tight skin contracture syndrome1Oct 22, 2019
Leukemia, acute lymphoblastic, susceptibility to, 31Oct 22, 2019
Leukocyte adhesion deficiency 13Oct 22, 2019
Leukodystrophy and acquired microcephaly with or without dystonia;2Oct 22, 2019
Leukodystrophy, hypomyelinating, 171May 21, 2022
Leukoencephalopathy1Jan 29, 2019
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome5May 21, 2022
Leukoencephalopathy with mild cerebellar ataxia and white matter edema3Oct 22, 2019
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome4May 21, 2022
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome3May 21, 2022
Lewy body dementia3May 21, 2022
Li-Fraumeni syndrome14Aug 22, 2023
Li-Fraumeni syndrome 11May 16, 2020
Lipase deficiency, combined2May 21, 2022
Lissencephaly 9 with complex brainstem malformation1May 21, 2022
Lissencephaly due to LIS1 mutation4May 21, 2022
Lissencephaly due to TUBA1A mutation2Oct 22, 2019
Lissencephaly type 1 due to doublecortin gene mutation1May 21, 2022
Loeys-Dietz syndrome 11Oct 22, 2019
Loeys-Dietz syndrome 61May 21, 2022
Long QT syndrome1Oct 29, 2019
Long QT syndrome 19Aug 22, 2023
Long QT syndrome 216Aug 22, 2023
Long QT syndrome 62Oct 22, 2019
Low phospholipid associated cholelithiasis4May 21, 2022
Lowe syndrome2Oct 22, 2019
Lower motor neuron syndrome with late-adult onset3Oct 22, 2019
Lung cancer1Apr 10, 2024
Lung carcinoma20Oct 22, 2019
Lymphangiomyomatosis7May 21, 2022
Lymphatic malformation 63Oct 22, 2019
Lynch syndrome103Aug 20, 2018
Lynch syndrome 192Apr 10, 2024
Lynch syndrome 455Aug 22, 2023
Lynch syndrome 597Apr 10, 2024
Lysosomal acid lipase deficiency2May 21, 2022
MERRF syndrome4May 21, 2022
MHC class I deficiency3Oct 22, 2019
MPI-congenital disorder of glycosylation1Feb 25, 2022
MYH7-related skeletal myopathy2May 21, 2022
Macrocephaly1Jan 29, 2019
Macrocephaly-autism syndrome1May 22, 2023
Macrocephaly-developmental delay syndrome4May 4, 2024
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss5May 21, 2022
Macrothrombocytopenia, isolated, 1, autosomal dominant2Apr 12, 2023
Macular degeneration, age-related, 31Oct 22, 2019
Malignant hyperthermia, susceptibility to, 129Aug 22, 2023
Malignant neoplastic disease1May 21, 2022
Malignant tumor of esophagus5May 21, 2022
Malignant tumor of prostate20Jan 23, 2024
Malignant tumor of urinary bladder