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Mendelics

General information

Mendelics

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

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 13131

Gene

GeneSubmissionsLast Updated
A2ML13May 21, 2022
AAAS3May 21, 2022
AAGAB1Oct 22, 2019
AARS16May 21, 2022
AARS26May 21, 2022
ABCA11Oct 22, 2019
ABCA121Oct 22, 2019
ABCA34May 21, 2022
ABCA465Aug 8, 2022
ABCA71May 21, 2022
ABCB115May 21, 2022
ABCB424May 21, 2022
ABCB63May 21, 2022
ABCC21Oct 22, 2019
ABCC67May 21, 2022
ABCC811May 21, 2022
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
ACADS2Oct 22, 2019
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
ACTB2May 21, 2022
ACTC12May 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-AS22May 21, 2022
ADAR4Oct 22, 2019
ADCY514May 21, 2022
ADGRE244May 21, 2022
ADGRG62Oct 22, 2019
ADGRV118May 21, 2022
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
AGBL13May 21, 2022
AGL14May 21, 2022
AGO12May 21, 2022
AGO32May 21, 2022
AGPAT23May 21, 2022
AGRN2Oct 22, 2019
AGTR12May 21, 2022
AGXT6Oct 22, 2019
AHDC16May 21, 2022
AHI18Jan 9, 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
AKT112May 21, 2022
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
ALDH7A16May 21, 2022
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
ANKRD1110May 21, 2022
ANKRD262May 21, 2022
ANLN1Oct 22, 2019
ANO514Dec 12, 2022
ANO71May 21, 2022
ANOS14May 21, 2022
ANTXR21Oct 22, 2019
ANXA111Oct 22, 2019
AOPEP44May 21, 2022
AP3B21Oct 22, 2019
AP4B12May 21, 2022
AP4B1-AS12May 21, 2022
AP4E11Oct 22, 2019
AP4S11May 21, 2022
AP5Z11Oct 22, 2019
APBA21May 21, 2022
APC243May 21, 2022
APOA58May 21, 2022
APOB17May 21, 2022
APOC21May 21, 2022
APOC4-APOC21May 21, 2022
APOL13May 21, 2022
APP1May 21, 2022
APTX2Oct 22, 2019
AR23Jan 12, 2023
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
ARMC53May 21, 2022
ARNT22Oct 29, 2019
ARPC1B2Oct 22, 2019
ARSA8May 21, 2022
ARSB6May 21, 2022
ARSL1May 21, 2022
ARX10May 21, 2022
ASAH13May 21, 2022
ASCC12Oct 22, 2019
ASCL12May 21, 2022
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
ATIC2Oct 22, 2019
ATL17May 21, 2022
ATM391May 21, 2022
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
ATP6AP21May 21, 2022
ATP6V0A46May 21, 2022
ATP6V1B12Oct 22, 2019
ATP6V1B22Oct 22, 2019
ATP7A16May 21, 2022
ATP7B26May 21, 2022
ATP8A23May 21, 2022
ATP8B16May 21, 2022
ATP8B1-AS13May 21, 2022
ATR5May 21, 2022
ATRIP1Oct 22, 2019
ATRIP-TREX11Oct 22, 2019
ATRX5May 21, 2022
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
BAP118Dec 13, 2022
BARD190May 21, 2022
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
BLM98May 21, 2022
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
BRCA1340May 21, 2022
BRCA2604Dec 13, 2022
BRD42May 21, 2022
BRIP1152May 21, 2022
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
C11orf65156May 21, 2022
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
C4orf471May 21, 2022
C62May 21, 2022
CA21Oct 22, 2019
CABIN14May 21, 2022
CABP41Oct 22, 2019
CACNA1A21May 21, 2022
CACNA1B4May 21, 2022
CACNA1C10May 21, 2022
CACNA1C-AS12Oct 22, 2019
CACNA1D5May 21, 2022
CACNA1E4May 21, 2022
CACNA1F5May 21, 2022
CACNA1G4May 21, 2022
CACNA1S4May 31, 2022
CACNA2D42Oct 22, 2019
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
CASK13May 21, 2022
CASP106May 21, 2022
CASP82Oct 22, 2019
CASQ12May 21, 2022
CASQ21Oct 22, 2019
CASR13May 21, 2022
CASZ11May 21, 2022
CATIP-AS21May 21, 2022
CATSPER22Oct 29, 2019
CAV12May 21, 2022
CAV36Dec 4, 2022
CBL4May 21, 2022
CBS4Oct 22, 2019
CC2D2A7Oct 22, 2019
CCBE11Oct 22, 2019
CCDC221May 21, 2022
CCDC403May 21, 2022
CCN61May 21, 2022
CCNF2Oct 29, 2019
CCNH1Oct 22, 2019
CD3201Oct 22, 2019
CD462May 21, 2022
CD591May 21, 2022
CDC61Oct 22, 2019
CDC732Oct 22, 2019
CDCA7L1May 21, 2022
CDH176May 21, 2022
CDH155May 21, 2022
CDH21May 21, 2022
CDH2318May 21, 2022
CDH23-AS11May 21, 2022
CDH31Oct 22, 2019
CDHR15Oct 22, 2019
CDK121May 21, 2022
CDK132May 21, 2022
CDK192May 21, 2022
CDK416Oct 22, 2019
CDKL529May 21, 2022
CDKN1B3May 21, 2022
CDKN1C1Oct 22, 2019
CDKN2A50May 21, 2022
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
CENPJ2Oct 22, 2019
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
CFB4May 21, 2022
CFC13May 21, 2022
CFH2Oct 22, 2019
CFHR52May 21, 2022
CFI4May 21, 2022
CFP1May 21, 2022
CFTR355Oct 24, 2022
CFTR-AS138Oct 24, 2022
CHAT2Oct 22, 2019
CHCHD103Oct 22, 2019
CHD11May 21, 2022
CHD1L1May 21, 2022
CHD212May 21, 2022
CHD32May 21, 2022
CHD43May 21, 2022
CHD717May 21, 2022
CHD83May 21, 2022
CHEK2106May 21, 2022
CHM10May 21, 2022
CHMP2B1May 21, 2022
CHRNA11May 21, 2022
CHRNA21Oct 22, 2019
CHRNB12May 21, 2022
CHRND4Oct 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
CLCNKB11Oct 22, 2019
CLDN161Oct 22, 2019
CLEC7A1Oct 22, 2019
CLIC21May 21, 2022
CLN34May 21, 2022
CLN59Oct 22, 2019
CLN612May 21, 2022
CLN89May 21, 2022
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
COG51Oct 22, 2019
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
COL2A127May 21, 2022
COL3A18May 21, 2022
COL4A16May 21, 2022
COL4A27May 21, 2022
COL4A37May 21, 2022
COL4A46Dec 12, 2022
COL4A518May 21, 2022
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
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
CPLANE18May 21, 2022
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
CYP11A12May 21, 2022
CYP11B12May 21, 2022
CYP11B21Oct 22, 2019
CYP19A11May 21, 2022
CYP1B13May 21, 2022
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
DDC5May 21, 2022
DDC-AS11May 21, 2022
DDX114May 21, 2022
DDX3X6May 21, 2022
DDX413May 21, 2022
DDX591Oct 22, 2019
DDX61May 21, 2022
DEAF18May 21, 2022
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
DMD324May 21, 2022
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
DOCK74May 21, 2022
DOCK84May 21, 2022
DOK77May 21, 2022
DPAGT13May 21, 2022
DPM12May 21, 2022
DPP64May 21, 2022
DPYD3May 21, 2022
DSC22Oct 22, 2019
DSG24May 21, 2022
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
EGFR51May 21, 2022
EGFR-AS13Oct 22, 2019
EGILA2Oct 29, 2019
EGR23May 21, 2022
EHMT112May 21, 2022
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
EP30018May 21, 2022
EPAS11Oct 22, 2019
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
ERCC66Oct 22, 2019
ERCC6L21Oct 22, 2019
ESR21Oct 22, 2019
ETFB1Oct 22, 2019
ETFDH9May 21, 2022
ETV61May 21, 2022
EVC1Oct 22, 2019
EVI2A1Oct 22, 2019
EVI2B2May 21, 2022
EXOSC31May 21, 2022
EXOSC51May 21, 2022
EXOSC81Oct 22, 2019
EXOSC91Oct 22, 2019
EXT14May 21, 2022
EXT23Oct 9, 2021
EYA12Oct 22, 2019
EYS43May 21, 2022
F115May 21, 2022
F11-AS12May 21, 2022
F121Oct 22, 2019
F13A13Jan 25, 2023
F21Oct 22, 2019
F53May 21, 2022
F71May 21, 2022
F852May 21, 2022
F8A11Oct 22, 2019
F97May 21, 2022
FA2H4May 21, 2022
FAH8May 21, 2022
FAM111A1Oct 22, 2019
FAM111B2May 21, 2022
FAM161A1May 21, 2022
FAM20C1Oct 22, 2019
FAM83H1Oct 22, 2019
FAM98C1May 21, 2022
FAN11May 21, 2022
FANCA15May 21, 2022
FANCB1Oct 22, 2019
FANCC69May 21, 2022
FANCD221May 21, 2022
FANCD2OS4May 21, 2022
FANCE2Oct 22, 2019
FANCG2Oct 22, 2019
FANCI5Oct 22, 2019
FANCL5Oct 22, 2019
FANCM22May 21, 2022
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
FBN155May 21, 2022
FBN27May 21, 2022
FBP14May 21, 2022
FBXL36Oct 22, 2019
FBXL44Oct 22, 2019
FBXO115May 21, 2022
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
FGFR39May 21, 2022
FGG3May 21, 2022
FH3May 21, 2022
FIG44May 21, 2022
FKBP102Oct 22, 2019
FKRP1Oct 22, 2019
FKTN1Oct 22, 2019
FLAD11Oct 22, 2019
FLCN6Oct 22, 2019
FLG24May 21, 2022
FLNA3May 21, 2022
FLNB4May 21, 2022
FLNC4May 21, 2022
FLNC-AS11May 21, 2022
FLT43Oct 22, 2019
FLVCR13Oct 22, 2019
FMN11May 21, 2022
FMO32May 21, 2022
FMR12Oct 22, 2019
FN11Oct 22, 2019
FNDC81Oct 22, 2019
FOLR11May 21, 2022
FOXA21May 21, 2022
FOXC13May 21, 2022
FOXE11Oct 22, 2019
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
FTH11Oct 22, 2019
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 21, 2022
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
GALC14May 21, 2022
GALE3May 21, 2022
GALK15Oct 22, 2019
GALM1May 21, 2022
GALNS10May 21, 2022
GALNTL51May 21, 2022
GALT16May 21, 2022
GAMT5Oct 29, 2019
GANAB1May 21, 2022
GAREM22May 21, 2022
GARS14May 21, 2022
GAS2L25May 21, 2022
GATA11May 21, 2022
GATA26Oct 22, 2019
GATA34May 21, 2022
GATA45May 21, 2022
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-DT2May 24, 2022
GK1May 21, 2022
GLA12May 21, 2022
GLB110May 21, 2022
GLDC9May 21, 2022
GLI23May 21, 2022
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
GREM21May 21, 2022
GRHL22May 21, 2022
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
GUCY2D15Oct 7, 2022
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 8, 2022
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
HLCS3May 21, 2022
HMBS3May 21, 2022
HMCN14Oct 22, 2019
HMGCL3May 21, 2022
HNF1A13May 21, 2022
HNF1B3May 21, 2022
HNF4A4May 21, 2022
HNRNPH21Oct 22, 2019
HNRNPK3May 21, 2022
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
HS6ST16May 21, 2022
HSCB3Oct 29, 2019
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 21, 2022
IDUA9May 21, 2022
IFIH16May 21, 2022
IFITM52Oct 22, 2019
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
IL36RN1Oct 22, 2019
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
INSRR9Oct 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
KCNH222May 21, 2022
KCNJ112May 21, 2022
KCNJ23Mar 15, 2022
KCNK122Oct 22, 2019
KCNK91Oct 22, 2019
KCNMA12May 21, 2022
KCNN320May 21, 2022
KCNQ14May 21, 2022
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
KIF4A1Oct 22, 2019
KIF5A1May 21, 2022
KIF5C1Oct 22, 2019
KIF71Oct 22, 2019
KIFBP1Oct 29, 2019
KIR3DL11Oct 22, 2019
KISS11Oct 22, 2019
KIT2May 21, 2022
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
KMT2D29May 21, 2022
KMT2E4May 21, 2022
KMT5B2May 21, 2022
KNL11Oct 22, 2019
KPTN3May 21, 2022
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
KRT83May 21, 2022
KRT811May 21, 2022
KRT851Oct 22, 2019
KRT861May 21, 2022
KRT91Oct 22, 2019
KRTAP10-71May 21, 2022
KYNU1May 21, 2022
L1CAM6Oct 22, 2019
L1CAM-AS14Oct 22, 2019
L2HGDH1Oct 22, 2019
LAMA13Oct 22, 2019
LAMA223May 21, 2022
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
LDB34May 21, 2022
LDLR33May 21, 2022
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
LIPE1Oct 22, 2019
LIPE-AS11Oct 22, 2019
LIPT22Oct 22, 2019
LIX1L-AS14May 21, 2022
LMF13May 21, 2022
LMNA9May 21, 2022
LMNB22May 21, 2022
LMX1B1Oct 22, 2019
LOC1001280281Oct 22, 2019
LOC1001303571May 21, 2022
LOC1001330771Oct 22, 2019
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LOC1005073464May 21, 2022
LOC1005074433May 21, 2022
LOC1005075771May 21, 2022
LOC1014482022Oct 22, 2019
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LOC1019300711Oct 22, 2019
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LOC1053715661Oct 22, 2019
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LOC1067217858Oct 22, 2019
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LOC1067808032Oct 22, 2019
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LOC1071262881May 21, 2022
LOC10713351016Aug 8, 2022
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LOC10765244510May 21, 2022
LOC10798223426May 21, 2022
LOC1082811341Oct 22, 2019
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LOC1089031481Oct 22, 2019
LOC1095047251May 21, 2022
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LOC1100112161Oct 22, 2019
LOC1101208931May 21, 2022
LOC1101212695Oct 22, 2019
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LOC1111626211Oct 22, 2019
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LOC11167447243May 21, 2022
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LOC1116744778May 21, 2022
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LOC1128060371Oct 22, 2019
LOC1136338771Nov 11, 2018
LOC1136641062Nov 11, 2018
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LOC1139399441Oct 22, 2019
LOC1148278321Oct 22, 2019
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LOC1153081611Oct 22, 2019
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LOC1171255911Oct 22, 2019
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LOC1221522963Oct 22, 2019
LOC1228890111Oct 22, 2019
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LOC1238640651Oct 22, 2019
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LOC1241882391Oct 22, 2019
LOC3405121Oct 29, 2019
LONP21May 21, 2022
LOXHD13Oct 22, 2019
LPAR613May 21, 2022
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
LRRK213May 21, 2022
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
MAF4May 21, 2022
MAFB1Oct 22, 2019
MAGEL23May 21, 2022
MAGT11Oct 22, 2019
MAK1Oct 22, 2019
MAK161May 21, 2022
MAMLD13May 21, 2022
MAN1B11Oct 22, 2019
MAP1A1May 21, 2022
MAP2K11Oct 22, 2019
MAP2K22May 21, 2022
MAP2K31May 21, 2022
MAP3K13May 21, 2022
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
MC4R2May 21, 2022
MCCC12Oct 22, 2019
MCM41Oct 22, 2019
MCM71May 21, 2022
MEA12Oct 22, 2019
MECP237Aug 8, 2022
MED125May 21, 2022
MED12L5May 21, 2022
MED13L2May 21, 2022
MED235Oct 22, 2019
MED254May 21, 2022
MEF2C5May 21, 2022
MEFV99May 28, 2022
MEIS21Oct 22, 2019
MEN127May 21, 2022
MERTK7May 21, 2022
MET83May 21, 2022
METTL51May 21, 2022
MFF-DT7May 21, 2022
MFN213May 21, 2022
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
MKKS7Oct 22, 2019
MKS11Oct 22, 2019
MLC12Oct 22, 2019
MLH1125May 21, 2022
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
MORC24May 21, 2022
MPDZ1Oct 22, 2019
MPI1Feb 25, 2022
MPL2May 21, 2022
MPO2Oct 22, 2019
MPV171Oct 22, 2019
MPZ7May 21, 2022
MRE113Oct 22, 2019
MRM12May 21, 2022
MSH2181May 21, 2022
MSH35May 21, 2022
MSH6198May 21, 2022
MSL31May 21, 2022
MSN1Oct 22, 2019
MSR12Oct 22, 2019
MSTN1Oct 22, 2019
MSX12Oct 22, 2019
MSX22Oct 22, 2019
MT-ATP69May 21, 2022
MT-ATP81May 21, 2022
MT-CO16May 21, 2022
MT-CO22May 21, 2022
MT-CO33May 21, 2022
MT-CYB21May 21, 2022
MT-ND19May 21, 2022
MT-ND31May 21, 2022
MT-ND42May 21, 2022
MT-ND4L1May 21, 2022
MT-ND56May 21, 2022
MT-ND65May 21, 2022
MT-RNR11May 21, 2022
MT-TA4May 21, 2022
MT-TD2May 21, 2022
MT-TE4May 21, 2022
MT-TF5May 21, 2022
MT-TG1May 21, 2022
MT-TH3May 21, 2022
MT-TI4May 21, 2022
MT-TK7May 21, 2022
MT-TL111May 21, 2022
MT-TL22May 21, 2022
MT-TN2May 21, 2022
MT-TP2May 21, 2022
MT-TR4May 21, 2022
MT-TS113May 21, 2022
MT-TS24May 21, 2022
MT-TV6May 21, 2022
MT-TW4May 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
MUTYH83May 21, 2022
MVK3Oct 22, 2019
MYBPC346May 21, 2022
MYCN2May 21, 2022
MYCNOS1May 21, 2022
MYF63May 21, 2022
MYH115May 21, 2022
MYH141May 21, 2022
MYH29May 21, 2022
MYH36May 21, 2022
MYH64Oct 22, 2019
MYH719May 21, 2022
MYH82May 21, 2022
MYH97May 21, 2022
MYHAS11May 21, 2022
MYL23May 21, 2022
MYL31May 21, 2022
MYLK1Oct 22, 2019
MYLK21Oct 22, 2019
MYO15A6Oct 22, 2019
MYO191May 21, 2022
MYO3A3Oct 22, 2019
MYO5A1Oct 22, 2019
MYO5B5May 21, 2022
MYO62May 21, 2022
MYO7A23May 21, 2022
MYOC8May 21, 2022
MYOCD1May 21, 2022
MYOM21May 21, 2022
MYORG1May 21, 2022
MYOT1May 21, 2022
MYPN1Oct 22, 2019
MYRF1Oct 22, 2019
MYT1L4May 21, 2022
NAA103May 21, 2022
NAA152May 21, 2022
NACC11May 21, 2022
NADSYN12Oct 29, 2019
NAGA1May 21, 2022
NAGLU6Oct 22, 2019
NAGS2Oct 29, 2019
NALCN2Oct 22, 2019
NARS22Oct 22, 2019
NBAS5Oct 22, 2019
NBEA1May 21, 2022
NBN62May 21, 2022
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
NEXN3May 21, 2022
NF1135May 21, 2022
NF239May 21, 2022
NFIX7May 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
NLRP32Oct 22, 2019
NLRP71Oct 22, 2019
NMNAT11May 21, 2022
NOBOX2May 21, 2022
NOD22Oct 22, 2019
NOTCH113May 21, 2022
NOTCH26May 21, 2022
NOTCH319May 21, 2022
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
NSD123May 21, 2022
NSD21May 21, 2022
NSDHL1Oct 22, 2019
NT5C22May 21, 2022
NT5DC17May 21, 2022
NTHL13May 21, 2022
NTN11May 21, 2022
NTRK137May 21, 2022
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
OBSL13May 21, 2022
OCA24Oct 22, 2019
OCRL7May 21, 2022
OFD14May 21, 2022
OGT1May 21, 2022
OPA112May 21, 2022
OPA31Oct 22, 2019
OPHN12May 21, 2022
OPTN2Oct 22, 2019
ORC41Oct 22, 2019
OSMR1Oct 22, 2019
OSTM11Oct 22, 2019
OTC15May 21, 2022
OTOA1Oct 22, 2019
OTOF4Oct 22, 2019
OTOG1May 21, 2022
OTX24May 21, 2022
OXCT13May 21, 2022
OXTR5Dec 4, 2022
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
PAH14May 21, 2022
PAK12May 21, 2022
PAK61Oct 22, 2019
PALB2185Dec 13, 2022
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
PCCB9Oct 22, 2019
PCDH157May 21, 2022
PCDH1922May 21, 2022
PCDH73May 21, 2022
PCGF23May 21, 2022
PCK12May 21, 2022
PCK21May 21, 2022
PCNA1Oct 22, 2019
PCSK11Oct 22, 2019
PCSK914May 21, 2022
PDE11A3May 21, 2022
PDE11A-AS11May 21, 2022
PDE6A10May 21, 2022
PDE6B6May 21, 2022
PDE6B-AS11Oct 22, 2019
PDE6C4May 21, 2022
PDE8B1Oct 22, 2019
PDGFB1May 21, 2022
PDGFRA1Oct 22, 2019
PDGFRB2May 21, 2022
PDHA16May 21, 2022
PDHX1Oct 22, 2019
PDX14Oct 22, 2019
PDYN3Oct 22, 2019
PDYN-AS13Oct 22, 2019
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
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
PITRM12May 21, 2022
PITX12May 21, 2022
PITX1-AS11May 21, 2022
PITX21Oct 22, 2019
PJVK2Oct 22, 2019
PKD143May 21, 2022
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
PMP222Oct 22, 2019
PMS297Dec 13, 2022
PNKD1May 21, 2022
PNKP4Oct 29, 2019
PNPLA21Oct 22, 2019
PNPLA61Oct 29, 2019
PNPT12May 21, 2022
POC52May 21, 2022
POGZ6May 21, 2022
POLA13May 21, 2022
POLD171May 21, 2022
POLE131May 21, 2022
POLG17May 21, 2022
POLH2May 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
PRICKLE22May 21, 2022
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
PROS14Oct 22, 2019
PRPF31Oct 22, 2019
PRPF3110May 21, 2022
PRPF31-AS18May 21, 2022
PRPF41May 21, 2022
PRPF61Oct 22, 2019
PRPF82Oct 22, 2019
PRPH213May 21, 2022
PRPS12May 21, 2022
PRRT217May 21, 2022
PRSS17May 21, 2022
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
PTCH118May 21, 2022
PTCH24May 21, 2022
PTCHD12May 21, 2022
PTCHD1-AS39May 21, 2022
PTDSS11Oct 22, 2019
PTEN54May 21, 2022
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
PYGL6May 21, 2022
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
RAD512Oct 22, 2019
RAD51C56May 21, 2022
RAD51D70May 21, 2022
RAD51L3-RFFL70May 21, 2022
RAD54L4May 21, 2022
RAF16May 21, 2022
RAG13Oct 22, 2019
RAG21Oct 29, 2019
RAI16May 21, 2022
RANBP21Oct 22, 2019
RAPSN1Oct 22, 2019
RARS11Oct 29, 2019
RARS29May 21, 2022
RASA11Oct 22, 2019
RASA21May 21, 2022
RASAL12May 21, 2022
RB162Dec 13, 2022
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
RECQL55May 21, 2022
RECQL47May 21, 2022
REEP14May 21, 2022
RELN1Oct 22, 2019
RELT1May 21, 2022
RERE1May 21, 2022
RET76May 21, 2022
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
RNASEL1May 21, 2022
RNF1702May 21, 2022
RNF2137May 21, 2022
RNF213-AS15May 21, 2022
RNF2161Oct 22, 2019
RNF431May 21, 2022
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
RPE6510May 21, 2022
RPGR25May 21, 2022
RPGRIP111May 21, 2022
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
RPS6KA34May 21, 2022
RRAS21May 21, 2022
RS14May 21, 2022
RTEL17May 21, 2022
RTEL1-TNFRSF6B7May 21, 2022
RTTN1Oct 29, 2019
RUNX11Oct 22, 2019
RUNX23May 21, 2022
RUSF11May 21, 2022
RXYLT11May 21, 2022
RYR134May 28, 2022
RYR26Oct 22, 2019
SACS8May 21, 2022
SAG1Oct 22, 2019
SALL17May 21, 2022
SALL41Oct 22, 2019
SAMD92May 21, 2022
SAMD9L1May 21, 2022
SAMHD11Oct 22, 2019
SASH12May 21, 2022
SATB11May 21, 2022
SATB23Oct 22, 2019
SBDS3May 21, 2022
SBF24May 21, 2022
SBF2-AS12May 21, 2022
SCARF21Oct 22, 2019
SCN10A12May 21, 2022
SCN11A1May 21, 2022
SCN1A114May 21, 2022
SCN1A-AS19May 21, 2022
SCN1B2Oct 22, 2019
SCN2A34May 21, 2022
SCN3A3May 21, 2022
SCN5A57Oct 22, 2019
SCN8A21May 21, 2022
SCN9A9May 21, 2022
SCNN1A2Oct 22, 2019
SCNN1B2May 21, 2022
SCNN1G4May 21, 2022
SCO22Oct 22, 2019
SCP21Oct 22, 2019
SDHA8Jun 25, 2022
SDHB20Aug 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
SERPINE11May 21, 2022
SERPINF11May 21, 2022
SERPING11May 21, 2022
SERPINI12May 21, 2022
SETBP16May 21, 2022
SETD21May 21, 2022
SETD55May 21, 2022
SETX7May 21, 2022
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
SH2B35May 21, 2022
SH2D1A3May 21, 2022
SH3TC26May 21, 2022
SHANK33May 21, 2022
SHFL2Oct 29, 2019
SHOX40May 21, 2022
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
SLC1A42May 21, 2022
SLC22A57May 21, 2022
SLC24A11Oct 22, 2019
SLC25A101May 21, 2022
SLC25A133May 21, 2022
SLC25A221May 21, 2022
SLC25A461Oct 22, 2019
SLC26A15May 21, 2022
SLC26A21Oct 22, 2019
SLC26A32Oct 22, 2019
SLC26A47May 21, 2022
SLC26A81May 21, 2022
SLC27A43May 21, 2022
SLC2A118May 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
SLC40A12Oct 22, 2019
SLC45A21Oct 22, 2019
SLC46A11Oct 29, 2019
SLC4A17May 21, 2022
SLC4A111Oct 22, 2019
SLC4A43May 21, 2022
SLC52A23May 21, 2022
SLC52A34May 21, 2022
SLC5A14May 21, 2022
SLC5A22May 21, 2022
SLC5A51Oct 22, 2019
SLC6A110May 21, 2022
SLC6A1-AS13May 21, 2022
SLC6A191May 21, 2022
SLC6A201Oct 22, 2019
SLC6A56May 21, 2022
SLC6A83May 21, 2022
SLC7A91Oct 22, 2019
SLC9A63Oct 22, 2019
SLCO1B11May 21, 2022
SLCO1B31Oct 22, 2019
SLCO1B3-SLCO1B71Oct 22, 2019
SLCO5A11May 21, 2022
SLK1Nov 22, 2022
SLX420May 21, 2022
SMAD21May 21, 2022
SMAD32Oct 22, 2019
SMAD43May 21, 2022
SMARCA26May 21, 2022
SMARCA410May 21, 2022
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
SNTA12Oct 22, 2019
SNX142May 21, 2022
SOCS31May 21, 2022
SOD13May 21, 2022
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
SPTA16May 21, 2022
SPTAN17May 21, 2022
SPTB2May 21, 2022
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
STK1156May 21, 2022
STRA61Oct 22, 2019
STRC1Oct 22, 2019
STUB11Oct 22, 2019
STX114May 21, 2022
STX1B2May 21, 2022
STXBP112May 21, 2022
STXBP24May 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
SYNE18May 21, 2022
SYNE23May 21, 2022
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
TANGO21Oct 22, 2019
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
TBX55Oct 22, 2019
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
TERT10May 21, 2022
TET22May 21, 2022
TET2-AS12May 21, 2022
TEX113May 21, 2022
TEX121Oct 29, 2019
TEX152May 21, 2022
TF2May 21, 2022
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
TGFBR29May 21, 2022
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
TK22May 21, 2022
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 21, 2015
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
TP5374May 21, 2022
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
TRAPPC21May 21, 2022
TRAPPC2L8Oct 22, 2019
TRAPPC41May 21, 2022
TRAPPC92May 21, 2022
TRB7May 21, 2022
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
TSHR4May 21, 2022
TSNAX-DISC12May 21, 2022
TSPAN14Oct 22, 2019
TSPAN316Oct 22, 2019
TSPAN71Oct 22, 2019
TSPEAR2May 21, 2022
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
TTR13May 21, 2022
TUBA1A2Oct 22, 2019
TUBB2May 21, 2022
TUBB12May 21, 2022
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
UGT1A7May 21, 2022
UGT1A17May 21, 2022
UGT1A107May 21, 2022
UGT1A37May 21, 2022
UGT1A47May 21, 2022
UGT1A57May 21, 2022
UGT1A67May 21, 2022
UGT1A77May 21, 2022
UGT1A87May 21, 2022
UGT1A97May 21, 2022
UMOD4May 21, 2022
UNC1192Oct 22, 2019
UNC13A1May 21, 2022
UNC13D11May 21, 2022
UNC806May 21, 2022
UPB12Oct 22, 2019
UPF3B2May 21, 2022
UROD8May 21, 2022
UROS1May 21, 2022
USH1C1Oct 22, 2019
USH2A55Sep 13, 2022
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
VCL2Oct 22, 2019
VCP1Nov 15, 2015
VDR3May 21, 2022
VEGFC10May 21, 2022
VEZF12May 21, 2022
VHL10May 21, 2022
VKORC11May 21, 2022
VPS13B14May 21, 2022
VPS33B4May 21, 2022
VRK11May 21, 2022
VRK24Oct 22, 2019
VSIR3May 21, 2022
VSX13May 21, 2022
VWF12May 21, 2022
WARS23May 21, 2022
WARS2-AS11May 21, 2022
WAS8May 21, 2022
WASF11Oct 29, 2019
WASHC51Oct 22, 2019
WDFY34May 21, 2022
WDFY43May 21, 2022
WDR111Oct 22, 2019
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
WNT10A6May 28, 2022
WNT5A1May 21, 2022
WRAP533Oct 22, 2019
WRN8May 21, 2022
WT140May 21, 2022
WWOX11May 21, 2022
XDH2Oct 22, 2019
XIAP5May 21, 2022
XPC4May 21, 2022
XRCC230Oct 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
ZEB13May 21, 2022
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
ZNF2923May 21, 2022
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 cataracts, neurologic involvement and neutropenia1Oct 22, 2019
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1Oct 22, 2019
3M syndrome 12May 21, 2022
3M syndrome 23May 21, 2022
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
4p partial monosomy syndrome1May 21, 2022
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
Acrofacial dysostosis Cincinnati type1Oct 22, 2019
Acromesomelic dysplasia 1, Maroteaux type1Oct 22, 2019
Acromicric dysplasia7May 21, 2022
Actin accumulation myopathy5May 21, 2022
Acute intermittent porphyria3May 21, 2022
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
Alstrom syndrome9May 21, 2022
Alternating hemiplegia of childhood 11May 21, 2022
Alzheimer disease 31Oct 22, 2019
Alzheimer disease 41Oct 22, 2019
Alzheimer disease 91May 21, 2022
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
Amyloidogenic transthyretin amyloidosis13May 21, 2022
Amyloidosis, primary localized cutaneous, 11Oct 22, 2019
Amyotrophic lateral sclerosis type 18May 21, 2022
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 47May 21, 2022
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 syndrome4Oct 22, 2019
Anemia, nonspherocytic hemolytic, due to G6PD deficiency32May 28, 2022
Aneurysm-osteoarthritis syndrome2Oct 22, 2019
Angelman syndrome9May 21, 2022
Angiokeratoma corporis diffusum12May 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 woolly hair and keratoderma5May 21, 2022
Arrhythmogenic right ventricular dysplasia 101May 21, 2022
Arrhythmogenic right ventricular dysplasia 112Oct 22, 2019
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
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 syndrome333Oct 22, 2019
Ataxia-telangiectasia-like disorder 13Oct 22, 2019
Ataxia-telangiectasia-like disorder 21Oct 22, 2019
Atelosteogenesis type I1May 21, 2022
Atransferrinemia1May 21, 2022
Atrial fibrillation, familial, 71Oct 22, 2019
Atrial septal defect 41Oct 22, 2019
Atrial septal defect 73Oct 22, 2019
Atrioventricular septal defect 41Oct 22, 2019
Atrioventricular septal defect 51Oct 22, 2019
Atrophia bulborum hereditaria1Oct 22, 2019
Atypical hemolytic-uremic syndrome with B factor anomaly1May 21, 2022
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 anomaly1Oct 22, 2019
Auditory neuropathy-optic atrophy syndrome1Oct 22, 2019
Auriculocondylar syndrome 21Oct 22, 2019
Autism spectrum disorder due to AUTS2 deficiency3Oct 22, 2019
Autism, susceptibility to, 182May 21, 2022
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 Alport syndrome1May 21, 2022
Autosomal dominant Parkinson disease 812Oct 22, 2019
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 hypocalcemia 11Jun 21, 2015
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 41Oct 22, 2019
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 form9Oct 22, 2019
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 type7May 21, 2022
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 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 lower motor neuron disease with childhood onset1May 21, 2022
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 220Oct 22, 2019
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 syndrome15Oct 22, 2019
BLOOD GROUP--DIEGO SYSTEM1May 21, 2022
BLOOD GROUP--LUTHERAN INHIBITOR4Oct 22, 2019
BURATTI-HAREL SYNDROME1May 21, 2022
Baller-Gerold syndrome7May 21, 2022
Bamforth-Lazarus syndrome1Oct 22, 2019
Baraitser-Winter syndrome 12May 21, 2022
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 311Oct 22, 2019
Bartter disease type 4B2Oct 22, 2019
Bartter disease type 4a1Oct 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
Benign scapuloperoneal muscular dystrophy with cardiomyopathy1Sep 1, 2015
Bernard Soulier syndrome1Oct 22, 2019
Bernard-Soulier syndrome, type A2, autosomal dominant1May 21, 2022
Bethlem myopathy 128May 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
Blau syndrome2Oct 22, 2019
Bleeding diathesis due to thromboxane synthesis deficiency1Oct 22, 2019
Blepharophimosis - intellectual disability syndrome, MKB type1May 21, 2022
Blepharophimosis, ptosis, and epicanthus inversus syndrome2Oct 22, 2019
Bloom syndrome87May 21, 2022
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, 1198Oct 22, 2019
Breast-ovarian cancer, familial, susceptibility to, 2360Oct 22, 2019
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 11Oct 22, 2019
Brown-Vialetto-van Laere syndrome 11Oct 22, 2019
Brown-Vialetto-van Laere syndrome 22Oct 22, 2019
Brugada syndrome 167Oct 22, 2019
Brugada syndrome 42Oct 22, 2019
Brugada syndrome 52Oct 22, 2019
Brugada syndrome 82Oct 22, 2019
Bullous ichthyosiform erythroderma1May 21, 2022
C1Q deficiency1May 21, 2022
CBL-related disorder1Oct 22, 2019
CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS1May 21, 2022
CFHR5 deficiency1Oct 22, 2019
CHARGE association16May 21, 2022
COG1 congenital disorder of glycosylation1Oct 22, 2019
COG4-congenital disorder of glycosylation2Oct 22, 2019
COG5-congenital disorder of glycosylation1Oct 22, 2019
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 colon3Oct 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 16Oct 22, 2019
Catecholaminergic polymorphic ventricular tachycardia 21Oct 22, 2019
Catecholaminergic polymorphic ventricular tachycardia 51Oct 22, 2019
Central core myopathy1May 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
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 2Z4May 21, 2022
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 2A211Oct 22, 2019
Charcot-Marie-Tooth disease type 2B23May 21, 2022
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 syndrome3Oct 22, 2019
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 syndrome12May 21, 2022
Cohen-Gibson syndrome1Oct 22, 2019
Cole-Carpenter syndrome 21Oct 22, 2019
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome1Oct 22, 2019
Colorectal cancer11May 21, 2022
Colorectal cancer, hereditary nonpolyposis, type 276Apr 21, 2020
Colorectal cancer, susceptibility to, 1046Oct 22, 2019
Colorectal cancer, susceptibility to, 1254Oct 22, 2019
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 35May 21, 2022
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 612Oct 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 insuffiency 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 cataracts-facial dysmorphism-neuropathy syndrome1Oct 22, 2019
Congenital central hypoventilation2Oct 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 deficiency1May 21, 2022
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 myotonia, autosomal dominant form2May 21, 2022
Congenital myotonia, autosomal recessive form4Oct 22, 2019
Congenital nongoitrous hypothryoidism 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 2A4May 21, 2022
Congenital stationary night blindness autosomal dominant 21May 21, 2022
Corneal dystrophy, Fuchs endothelial, 62Oct 22, 2019
Corneal dystrophy, Fuchs endothelial, 83May 21, 2022
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
Cowden syndrome9Aug 20, 2018
Cowden syndrome 119May 21, 2022
Cowden syndrome 610Oct 22, 2019
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 II3Oct 22, 2019
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
Cyclopia5Oct 22, 2019
Cystic fibrosis315Oct 24, 2022
Cystinuria2May 21, 2022
Cytochrome-c oxidase deficiency disease16May 21, 2022
D-2-hydroxyglutaric aciduria 12Oct 22, 2019
D-2-hydroxyglutaric aciduria 21Oct 22, 2019
DE SANCTIS-CACCHIONE SYNDROME6Oct 22, 2019
DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES1May 21, 2022
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES2May 21, 2022
DICER1 syndrome6Oct 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 uridylyltransferase15May 21, 2022
Deficiency of acetyl-CoA acetyltransferase1Oct 22, 2019
Deficiency of aromatic-L-amino-acid decarboxylase5May 21, 2022
Deficiency of beta-ureidopropionase2Oct 22, 2019
Deficiency of butyryl-CoA dehydrogenase2Oct 22, 2019
Deficiency of cytochrome-b5 reductase2Oct 29, 2019
Deficiency of ferroxidase3May 21, 2022
Deficiency of galactokinase4Oct 22, 2019
Deficiency of glycerol kinase1May 21, 2022
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 947May 21, 2022
Developmental and epileptic encephalopathy 971May 21, 2022
Developmental and epileptic encephalopathy, 110Oct 22, 2019
Developmental and epileptic encephalopathy, 111May 31, 2016
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, 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 variable intellectual impairment 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 1CC1Oct 22, 2019
Dilated cardiomyopathy 1DD4Oct 22, 2019
Dilated cardiomyopathy 1G14Oct 22, 2019
Dilated cardiomyopathy 1JJ1Oct 22, 2019
Dilated cardiomyopathy 1KK1Oct 22, 2019
Dilated cardiomyopathy 1O3Oct 22, 2019
Dilated cardiomyopathy 1R1May 24, 2022
Dilated cardiomyopathy 1W2Oct 22, 2019
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 dystrophy233Oct 22, 2019
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 dominant10May 21, 2022
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 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 22May 21, 2022
Emery-Dreifuss muscular dystrophy 5, autosomal dominant1Oct 22, 2019
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 carcinoma7May 21, 2022
Enhanced S-cone syndrome1Oct 22, 2019
Enterokinase deficiency1Jun 21, 2015
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, 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 216May 21, 2022
Episodic kinesigenic dyskinesia 117May 21, 2022
Epithelial recurrent erosion dystrophy2May 21, 2022
Epsilon-trimethyllysine hydroxylase deficiency1May 21, 2022
Erythrocytosis, familial, 41Oct 22, 2019
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 23Oct 9, 2021
Exudative vitreoretinopathy 12May 21, 2022
FG syndrome 12Oct 22, 2019
FG syndrome 41May 21, 2022
FRAXE3Oct 22, 2019
Factor V deficiency2Oct 22, 2019
Factor XII deficiency disease1Oct 22, 2019
Familial Mediterranean fever98May 28, 2022
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 1205Oct 22, 2019
Familial adenomatous polyposis 275May 21, 2022
Familial adenomatous polyposis 32May 21, 2022
Familial adenomatous polyposis 42Oct 22, 2019
Familial apolipoprotein C-II deficiency1May 21, 2022
Familial cancer of breast421May 21, 2022
Familial chronic mucocutaneous candidiasis1Oct 22, 2019
Familial cold autoinflammatory syndrome 12Oct 22, 2019
Familial cold autoinflammatory syndrome 21Oct 22, 2019
Familial colorectal cancer59Aug 20, 2018
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 receptor2Oct 22, 2019
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 carcinoma21Aug 20, 2018
Familial porphyria cutanea tarda4May 21, 2022
Familial renal glucosuria1Oct 22, 2019
Familial thyroid dyshormonogenesis 11Oct 22, 2019
Familial type 5 hyperlipoproteinemia2May 21, 2022
Familial visceral amyloidosis, Ostertag type2Oct 22, 2019
Fanconi anemia complementation group A106Oct 22, 2019
Fanconi anemia complementation group C28May 21, 2022
Fanconi anemia complementation group D22May 21, 2022
Fanconi anemia complementation group E2Oct 22, 2019
Fanconi anemia complementation group J64Nov 11, 2018
Fanconi anemia complementation group O28May 21, 2022
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 16Oct 22, 2019
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 to1May 21, 2022
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
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 deficiency14May 21, 2022
Galloway-Mowat syndrome 12Oct 22, 2019
Gastrointestinal stroma tumor12Oct 22, 2019
Gaucher disease type I2Feb 11, 2020
Generalized epilepsy with febrile seizures plus, type 244May 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
Generalized pustular psoriasis1Oct 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 21, 2022
Glycogen storage disease, type IV4May 21, 2022
Glycogen storage disease, type V3Oct 22, 2019
Glycogen storage disease, type VI5May 21, 2022
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 syndrome22May 21, 2022
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 18Oct 22, 2019
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 to2Oct 22, 2019
Hepatocellular carcinoma5Oct 22, 2019
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 13Oct 22, 2019
Hereditary breast ovarian cancer syndrome351Aug 20, 2018
Hereditary cancer22Aug 20, 2018
Hereditary cancer-predisposing syndrome150Oct 29, 2019
Hereditary coproporphyria1Oct 22, 2019
Hereditary diffuse gastric adenocarcinoma67Oct 22, 2019
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 anhidrosis15Oct 22, 2019
Hereditary liability to pressure palsies2Oct 22, 2019
Hereditary motor and sensory neuropathy, Okinawa type1Oct 22, 2019
Hereditary pancreatitis40May 21, 2022
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 312Oct 22, 2019
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 21May 21, 2022
Hereditary spherocytosis type 44Oct 22, 2019
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
Holocarboxylase synthetase deficiency3May 21, 2022
Holoprosencephaly 21May 21, 2022
Holoprosencephaly 91May 21, 2022
Holt-Oram syndrome7Oct 22, 2019
Huntington disease-like 14Oct 22, 2019
Hurler syndrome7May 21, 2022
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 12Oct 22, 2019
Hyper-IgM syndrome type 21Oct 22, 2019
Hypercholanemia, familial 12May 21, 2022
Hypercholesterolemia, autosomal dominant, 32May 21, 2022
Hypercholesterolemia, autosomal dominant, type B7May 21, 2022
Hypercholesterolemia, familial, 124May 21, 2022
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, 19Oct 22, 2019
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 120Oct 22, 2019
Hypertrophic cardiomyopathy 102Oct 22, 2019
Hypertrophic cardiomyopathy 111Oct 22, 2019
Hypertrophic cardiomyopathy 144Oct 22, 2019
Hypertrophic cardiomyopathy 181May 31, 2016
Hypertrophic cardiomyopathy 25Oct 22, 2019
Hypertrophic cardiomyopathy 251Oct 22, 2019
Hypertrophic cardiomyopathy 446May 21, 2022
Hypertrophic cardiomyopathy 81May 21, 2022
Hyperuricemic nephropathy, familial juvenile type 41May 21, 2022
Hypochondroplasia6Oct 22, 2019
Hypogonadotropic hypogonadism 1 with or without anosmia2May 21, 2022
Hypogonadotropic hypogonadism 13 with or without anosmia1Oct 22, 2019
Hypogonadotropic hypogonadism 14 with or without anosmia1Oct 22, 2019
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 anosmia5Oct 22, 2019
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-linked2May 21, 2022
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 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
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 11Nov 15, 2015
Infantile GM1 gangliosidosis4May 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
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 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 recessive 721May 21, 2022
Intellectual disability1Oct 29, 2019
Intellectual disability, X-linked 17May 21, 2022
Intellectual disability, X-linked 1001Oct 22, 2019
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 246May 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-cataracts-calcified pinnae-myopathy syndrome4May 21, 2022
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-macrocephaly-hypotonia-behavioral abnormalities syndrome5May 21, 2022
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 deficiency4May 21, 2022
Iodotyrosyl coupling defect3Oct 22, 2019
Irido-corneo-trabecular dysgenesis2Oct 22, 2019
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 146Jan 9, 2023
Joubert syndrome 171Sep 16, 2020
Joubert syndrome 202Oct 22, 2019
Joubert syndrome 233Oct 22, 2019
Joubert syndrome 31Jun 21, 2015
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 stroke24May 21, 2022
KBG syndrome2May 21, 2022
Kabuki syndrome 124May 21, 2022
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 25Oct 22, 2019
LIPE-related familial partial lipodystrophy1Oct 22, 2019
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 151May 21, 2022
Leber congenital amaurosis 1310May 21, 2022
Leber congenital amaurosis 210May 21, 2022
Leber congenital amaurosis 31May 21, 2022
Leber congenital amaurosis 81Jul 18, 2020
Leber congenital amaurosis 91May 21, 2022
Leber optic atrophy30May 21, 2022
Left ventricular noncompaction 81Oct 22, 2019
Legius syndrome2Oct 22, 2019
Leigh syndrome16Oct 22, 2019
Lenz-Majewski hyperostosis syndrome1Oct 22, 2019
Leri-Weill dyschondrosteosis14May 21, 2022
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 syndrome23Aug 20, 2018
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
Localized epidermolytic hyperkeratosis1Oct 22, 2019
Loeys-Dietz syndrome 11Oct 22, 2019
Loeys-Dietz syndrome 61May 21, 2022
Long QT syndrome1Oct 29, 2019
Long QT syndrome 19Jun 24, 2022
Long QT syndrome 216Oct 22, 2019
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 carcinoma21Oct 22, 2019
Lymphangiomyomatosis7May 21, 2022
Lymphatic malformation 63Oct 22, 2019
Lynch syndrome198Aug 20, 2018
Lynch syndrome 194May 21, 2022
Lynch syndrome 457Oct 22, 2019
Lynch syndrome 5102Oct 22, 2019
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-developmental delay syndrome3May 21, 2022
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss5May 21, 2022
Macrothrombocytopenia, isolated, 1, autosomal dominant2May 21, 2022
Macular degeneration, age-related, 31Oct 22, 2019
Malignant eosinophil proliferation1May 21, 2022
Malignant hyperthermia, susceptibility to, 129May 28, 2022
Malignant neoplastic disease1May 21, 2022
Malignant tumor of esophagus5May 21, 2022
Malignant tumor of prostate21Jan 12, 2023
Malignant tumor of urinary bladder3May 21, 2022
Mandibulofacial dysostosis-microcephaly syndrome1Oct 22, 2019
Maple syrup urine disease13May 21, 2022
Marfan syndrome48Oct 22, 2019
Marinesco-Sjögren syndrome2Oct 22, 2019
Marshall-Smith syndrome6May 21, 2022
Matthew-Wood syndrome1Oct 22, 2019
Maturity onset diabetes mellitus in young2Oct 22, 2019
Maturity-onset diabetes of the young type 12May 21, 2022
Maturity-onset diabetes of the young type 26May 21, 2022
Maturity-onset diabetes of the young type 39Oct 22, 2019
Maturity-onset diabetes of the young type 44Oct 22, 2019
McCune-Albright syndrome2Oct 22, 2019
McKusick-Kaufman syndrome7Oct 22, 2019
Meconium ileus3Oct 22, 2019
Medium-chain acyl-coenzyme A dehydrogenase deficiency5May 21, 2022
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations1May 21, 2022
Megalencephalic leukoencephalopathy with subcortical cysts 12Oct 22, 2019
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11Oct 22, 2019
Meier-Gorlin syndrome 21Oct 22, 2019
Meier-Gorlin syndrome 42Oct 22, 2019
Meier-Gorlin syndrome 51Oct 22, 2019
Melanoma, cutaneous malignant, susceptibility to, 11May 21, 2022
Melanoma, cutaneous malignant, susceptibility to, 213May 21, 2022
Melanoma, cutaneous malignant, susceptibility to, 316Oct 22, 2019
Melanoma-pancreatic cancer syndrome36Oct 22, 2019
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency1Oct 22, 2019
Menkes kinky-hair syndrome8Oct 22, 2019
Merosin deficient congenital muscular dystrophy23May 21, 2022
Metachondromatosis7Oct 22, 2019
Metachromatic leukodystrophy8May 21, 2022
Metaphyseal anadysplasia 22Oct 22, 2019
Metaphyseal chondrodysplasia, Schmid type5May 21, 2022
Metaphyseal chondrodysplasia, Spahr type1Oct 22, 2019
Methylcobalamin deficiency type cblE3May 21, 2022
Methylcobalamin deficiency type cblG5May 21, 2022
Methylmalonic acidemia due to transcobalamin receptor defect1Oct 22, 2019
Methylmalonic acidemia with homocystinuria, type cblJ2Oct 22, 2019
Methylmalonic aciduria and homocystinuria type cblD1Oct 22, 2019
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency10May 21, 2022
Methylmalonic aciduria, cblA type1May 21, 2022
Methylmalonic aciduria, cblB type2Oct 22, 2019
Microcephalic primordial dwarfism due to ZNF335 deficiency2May 21, 2022
Microcephalic primordial dwarfism, Alazami type1Oct 22, 2019
Microcephaly 16, primary, autosomal recessive1Oct 22, 2019
Microcephaly 24, primary, autosomal recessive1May 21, 2022
Microcephaly 4, primary, autosomal recessive1Oct 22, 2019
Microcephaly 7, primary, autosomal recessive3Oct 22, 2019
Microcephaly and chorioretinopathy 11Oct 22, 2019
Microcephaly and chorioretinopathy 32Oct 22, 2019
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability1Oct 22, 2019
Microcephaly, normal intelligence and immunodeficiency51May 21, 2022
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome2Oct 22, 2019
Microcornea-myopic chorioretinal atrophy1Oct 22, 2019
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome2May 21, 2022
Microphthalmia with brain and digit anomalies2Oct 22, 2019
Migraine, familial hemiplegic, 21Oct 22, 2019
Mirror movements 12Oct 22, 2019
Mirror movements 22Oct 22, 2019
Mitochondrial DNA deletion syndrome with progressive myopathy1May 21, 2022
Mitochondrial DNA depletion syndrome 11Oct 22, 2019
Mitochondrial DNA depletion syndrome 111Oct 22, 2019
Mitochondrial DNA depletion syndrome 134Oct 22, 2019
Mitochondrial DNA depletion syndrome 33Oct 22, 2019
Mitochondrial DNA depletion syndrome 95May 21, 2022
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria3May 21, 2022
Mitochondrial DNA depletion syndrome, myopathic form2May 21, 2022
Mitochondrial DNA-Associated Leigh Syndrome and NARP1May 21, 2022
Mitochondrial complex 1 deficiency, nuclear type 121Oct 22, 2019
Mitochondrial complex 1 deficiency, nuclear type 161Oct 22, 2019
Mitochondrial complex 1 deficiency, nuclear type 171Oct 22, 2019
Mitochondrial complex 1 deficiency, nuclear type 211May 21, 2022
Mitochondrial complex 1 deficiency, nuclear type 231Oct 22, 2019
Mitochondrial complex 1 deficiency, nuclear type 242Oct 22, 2019
Mitochondrial complex 1 deficiency, nuclear type 262Oct 22, 2019
Mitochondrial complex 1 deficiency, nuclear type 61Oct 22, 2019
Mitochondrial complex 1 deficiency, nuclear type 91Oct 22, 2019
Mitochondrial complex 4 deficiency, nuclear type 121May 21, 2022
Mitochondrial complex II deficiency, nuclear type 18Jun 25, 2022
Mitochondrial complex III deficiency nuclear type 12May 21, 2022
Mitochondrial complex III deficiency nuclear type 21May 21, 2022
Mitochondrial disease16May 21, 2022
Mitochondrial non-syndromic sensorineural hearing loss4May 21, 2022
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency14May 21, 2022
Mitochondrial trifunctional protein deficiency5May 21, 2022
Moderate global developmental delay1Oct 27, 2018
Mosaic variegated aneuploidy syndrome 16Oct 22, 2019
Mosaic variegated aneuploidy syndrome 21Oct 22, 2019
Mowat-Wilson syndrome11May 21, 2022
Moyamoya disease 26May 21, 2022
Mucolipidosis type II4May 21, 2022
Mucolipidosis type III gamma1May 21, 2022
Mucopolysaccharidosis type 65May 21, 2022
Mucopolysaccharidosis type 73Oct 22, 2019
Mucopolysaccharidosis, MPS-II5May 21, 2022
Mucopolysaccharidosis, MPS-III-B6Oct 22, 2019
Mucopolysaccharidosis, MPS-III-C3Oct 22, 2019
Mucopolysaccharidosis, MPS-IV-A9May 21, 2022
Mucopolysaccharidosis, MPS-IV-B1May 31, 2016
Muir-Torré syndrome3May 21, 2022
Multicentric carpo-tarsal osteolysis with or without nephropathy1Oct 22, 2019
Multicentric osteolysis nodulosis arthropathy spectrum1May 21, 2022
Multiple acyl-CoA dehydrogenase deficiency11May 21, 2022
Multiple benign circumferential skin creases on limbs 11May 21, 2022
Multiple congenital anomalies-hypotonia-seizures syndrome 15May 21, 2022
Multiple congenital anomalies-hypotonia-seizures syndrome 23Oct 22, 2019
Multiple congenital anomalies-hypotonia-seizures syndrome 34Oct 22, 2019
Multiple cutaneous leiomyomas1May 21, 2022
Multiple endocrine neoplasia type 41Oct 22, 2019
Multiple endocrine neoplasia, type 123Oct 22, 2019
Multiple endocrine neoplasia, type 2a70Oct 22, 2019
Multiple epiphyseal dysplasia type 12May 21, 2022
Multiple epiphyseal dysplasia type 41Oct 22, 2019
Multiple epiphyseal dysplasia type 51Oct 22, 2019
Multiple fibrofolliculomas6Oct 22, 2019
Muscle eye brain disease4Oct 22, 2019
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41Oct 22, 2019
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A11May 21, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A22Oct 22, 2019
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A31May 21, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101May 21, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 112Oct 22, 2019
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 81Oct 22, 2019
Mutilating keratoderma5May 21, 2022
Myasthenic syndrome, congenital, 221May 21, 2022
Myelodysplastic syndrome1May 21, 2022
Myelofibrosis1May 21, 2022
Myeloperoxidase deficiency2Oct 22, 2019
Myoclonic dystonia 113May 21, 2022
Myoclonic epilepsy, progressive, X-linked3Oct 22, 2019
Myoclonic-atonic epilepsy8May 21, 2022
Myofibrillar myopathy 43Oct 22, 2019
Myofibrillar myopathy 53Oct 22, 2019
Myofibrillar myopathy 65Oct 22, 2019
Myofibromatosis, infantile, 11Oct 22, 2019
Myopathy, distal, 51May 21, 2022
Myopathy, proximal, and ophthalmoplegia7May 21, 2022
Myostatin-related muscle hypertrophy1Oct 22, 2019
NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS2May 21, 2022
Nail-patella syndrome1Oct 22, 2019
Nance-Horan syndrome1Oct 22, 2019
Nanophthalmos 22May 21, 2022
Navajo neurohepatopathy1Oct 22, 2019
Nemaline myopathy 12Oct 22, 2019
Nemaline myopathy 217May 21, 2022
Nemaline myopathy 62Oct 22, 2019
Nemaline myopathy 91Oct 22, 2019
Neonatal diabetes mellitus with congenital hypothyroidism2Oct 22, 2019
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome1May 21, 2022
Neonatal-onset encephalopathy with rigidity and seizures1Jun 21, 2015
Nephronophthisis 45Oct 22, 2019
Nephropathic cystinosis3Oct 22, 2019
Nephrotic syndrome, type 111May 21, 2022
Nephrotic syndrome, type 22May 21, 2022
Nephrotic syndrome, type 33May 21, 2022
Nephrotic syndrome, type 91May 21, 2022
Netherton syndrome2Oct 22, 2019
Neural tube defect2Oct 22, 2019
Neural tube defects, folate-sensitive3Oct 22, 2019
Neuroblastoma3Oct 22, 2019
Neuroblastoma, susceptibility to, 32Oct 22, 2019
Neurodegeneration with brain iron accumulation 41Dec 5, 2021
Neurodegeneration with brain iron accumulation 59May 21, 2022
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures2Oct 22, 2019
Neurodevelopmental disorder7May 21, 2022
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy1May 21, 2022
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities1May 21, 2022
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities1May 21, 2022
Neurodevelopmental disorder with hypotonia, seizures, and absent language2Oct 22, 2019
Neurodevelopmental disorder with language impairment and behavioral abnormalities1May 21, 2022
Neurodevelopmental disorder with microcephaly and dysmorphic facies2May 21, 2022
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies1May 21, 2022
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1May 21, 2022
Neurodevelopmental disorder with or without early-onset generalized epilepsy1May 21, 2022
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA1Oct 22, 2019
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures2Oct 22, 2019
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements3Oct 22, 2019
Neurodevelopmental disorder with severe motor impairment and absent language2Oct 22, 2019
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies1Oct 29, 2019
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures3May 21, 2022
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation3May 21, 2022
Neurofibromatosis, type 1126May 21, 2022
Neurofibromatosis, type 238May 21, 2022
Neuronal ceroid lipofuscinosis23Oct 22, 2019
Neuronal ceroid lipofuscinosis 11May 21, 2022
Neuronal ceroid lipofuscinosis 23May 21, 2022
Neuronal ceroid lipofuscinosis 32May 21, 2022
Neuronal ceroid lipofuscinosis 52Jun 21, 2015
Neuronal ceroid lipofuscinosis 78May 21, 2022
Neuronal ceroid lipofuscinosis 82May 21, 2022
Neuronopathy, distal hereditary motor, type 5A2May 21, 2022
Neurooculocardiogenitourinary syndrome1May 21, 2022
Neuropathy, congenital hypomyelinating, 31Oct 22, 2019
Neuropathy, hereditary motor and sensory, type 6A1May 21, 2022
Neuropathy, hereditary motor and sensory, type 6B1Oct 22, 2019
Neuropathy, hereditary sensory and autonomic, type 1A2Oct 22, 2019
Neuropathy, hereditary sensory and autonomic, type 1C1May 21, 2022
Neuropathy, hereditary sensory and autonomic, type 2A8May 21, 2022
Neutral lipid storage myopathy1Oct 22, 2019
Neutropenia, severe congenital, 1, autosomal dominant1Sep 1, 2015
Neutropenia, severe congenital, 2, autosomal dominant4Oct 22, 2019
Neutrophil immunodeficiency syndrome3Oct 22, 2019
Nicolaides-Baraitser syndrome5May 21, 2022
Niemann-Pick disease, type A2May 21, 2022
Niemann-Pick disease, type C112May 21, 2022
Nijmegen breakage syndrome-like disorder5Oct 22, 2019
Non-Hodgkin lymphoma4Oct 22, 2019
Non-ketotic hyperglycinemia13May 21, 2022
Nonpapillary renal cell carcinoma1May 21, 2022
Nonprogressive cerebellar atxia with intellectual disability3May 21, 2022
Nonsyndromic congenital nail disorder 11Oct 22, 2019
Noonan syndrome 15Oct 22, 2019
Noonan syndrome 23May 21, 2022
Noonan syndrome 81May 21, 2022
Noonan syndrome 91Oct 22, 2019
Norman-Roberts syndrome1Oct 22, 2019
Nystagmus 1, congenital, X-linked2May 21, 2022
Obesity3May 21, 2022
Obesity due to pro-opiomelanocortin deficiency2Oct 22, 2019
Obesity due to prohormone convertase I deficiency1Oct 22, 2019
Occult macular dystrophy7Oct 22, 2019
Ocular albinism, type I1Oct 22, 2019
Oculocerebrofacial syndrome, Kaufman type1Oct 22, 2019
Oculocutaneous albinism type 31Oct 22, 2019
Oculodentodigital dysplasia1Oct 22, 2019
Oculopharyngeal muscular dystrophy3Oct 22, 2019
Oculotrichoanal syndrome2Oct 22, 2019
Odonto-onycho-dermal dysplasia3May 28, 2022
Ogden syndrome3May 21, 2022
Oguchi disease1Oct 22, 2019
Okur-Chung neurodevelopmental syndrome3May 21, 2022
Oligodontia-cancer predisposition syndrome5Oct 22, 2019
Olmsted syndrome 11Oct 22, 2019
Opsismodysplasia1Oct 22, 2019
Optic atrophy 13 with retinal and foveal abnormalities1May 21, 2022
Optic atrophy 51May 21, 2022
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1Jun 21, 2015
Ornithine carbamoyltransferase deficiency14May 21, 2022
Orofaciodigital syndrome I1Oct 22, 2019
Orofaciodigital syndrome V1Oct 22, 2019
Orofaciodigital syndrome XV1May 21, 2022
Orofaciodigital syndrome type 141Oct 22, 2019
Orofaciodigital syndrome type 63May 21, 2022
Osteochondritis dissecans4Oct 22, 2019
Osteocraniostenosis1Oct 22, 2019
Osteogenesis imperfecta type 112Oct 22, 2019
Osteogenesis imperfecta type 151Jan 5, 2015
Osteogenesis imperfecta type 52Oct 22, 2019
Osteogenesis imperfecta type 61May 21, 2022
Osteogenesis imperfecta type 81May 21, 2022
Osteogenesis imperfecta type I13Oct 22, 2019
Osteogenesis imperfecta, recessive perinatal lethal5May 21, 2022
Osteoglophonic dysplasia1Oct 22, 2019
Osteopathia striata with cranial sclerosis3Oct 22, 2019
Osteopetrosis with renal tubular acidosis1Oct 22, 2019
Osteoporosis with pseudoglioma3Oct 22, 2019
Otitis media, susceptibility to2Oct 22, 2019
Otofaciocervical syndrome 12Oct 22, 2019
Otospondylomegaepiphyseal dysplasia, autosomal recessive4Oct 22, 2019
Ovarian dysgenesis 27May 21, 2022
Ovarian dysgenesis 31Oct 29, 2019
PERCHING syndrome3Oct 22, 2019
PHGDH deficiency1Oct 22, 2019
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome4May 21, 2022
PMM2-congenital disorder of glycosylation4May 21, 2022
PSAT deficiency1Oct 22, 2019
PTEN hamartoma tumor syndrome47Oct 22, 2019
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome7May 21, 2022
Pachyonychia congenita 11May 21, 2022
Pachyonychia congenita 41Oct 22, 2019
Paget disease of bone 61Oct 22, 2019
Pallister-Hall syndrome1May 21, 2022
Palmoplantar keratoderma, punctate type 1A1Oct 22, 2019
Pancytopenia-developmental delay syndrome1Oct 22, 2019
Papillary renal cell carcinoma type 180Oct 22, 2019
Paragangliomas 41Aug 21, 2020
Parathyroid carcinoma2Oct 22, 2019
Parietal foramina 12Oct 22, 2019
Parkinson disease 211Oct 22, 2019
Parkinson disease, late-onset1May 21, 2022
Paroxysmal nocturnal hemoglobinuria 13May 21, 2022
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome2May 21, 2022
Patterned macular dystrophy 19Oct 22, 2019
Peeling skin syndrome 14Oct 22, 2019
Peeling skin syndrome type A1Oct 22, 2019
Pelizaeus-Merzbacher disease3May 21, 2022
Pendred syndrome6May 21, 2022
Periventricular heterotopia with microcephaly, autosomal recessive2Oct 22, 2019
Permanent neonatal diabetes mellitus2Oct 22, 2019
Peroxisome biogenesis disorder 14B1May 21, 2022
Peroxisome biogenesis disorder 1A (Zellweger)6Oct 22, 2019
Peroxisome biogenesis disorder 4A (Zellweger)5May 21, 2022
Peroxisome biogenesis disorder 6A (Zellweger)2May 21, 2022
Peroxisome biogenesis disorder type 3B2Oct 22, 2019
Perrault syndrome 12May 21, 2022
Persistent Mullerian duct syndrome1Oct 22, 2019
Pervasive developmental disorder1Oct 27, 2018
Peutz-Jeghers syndrome50Oct 22, 2019
Phelan-McDermid syndrome2Oct 22, 2019
Phenylketonuria12May 21, 2022
Pheochromocytoma3Oct 22, 2019
Phosphoenolpyruvate carboxykinase deficiency, cytosolic2May 21, 2022
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial1May 21, 2022
Phosphoribosylpyrophosphate synthetase superactivity2May 21, 2022
Phytanic acid storage disease1Oct 22, 2019
Pick disease2May 21, 2022
Pierpont syndrome5May 21, 2022
Pigmentary pallidal degeneration6May 21, 2022
Pigmentary retinal dystrophy6May 21, 2022
Pigmented nodular adrenocortical disease, primary, 23May 21, 2022
Pigmented paravenous retinochoroidal atrophy5May 21, 2022
Pitt-Hopkins syndrome10May 21, 2022
Pitt-Hopkins-like syndrome 21Oct 22, 2019
Pituitary adenoma, growth hormone-secreting, 21Oct 22, 2019
Pityriasis rubra pilaris1Oct 22, 2019
Plasminogen deficiency, type I2May 21, 2022
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease2Oct 22, 2019
Platelet-type bleeding disorder 81May 21, 2022
Platelet-type bleeding disorder 91Oct 22, 2019
Poirier-Bienvenu neurodevelopmental syndrome5May 21, 2022
Polycystic kidney disease 23Oct 22, 2019
Polycystic kidney disease 41May 21, 2022
Polycystic kidney disease, adult type38May 21, 2022
Polycystic liver disease 12May 21, 2022
Polyglandular autoimmune syndrome, type 14May 21, 2022
Polyglucosan body myopathy type 11May 21, 2022
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis1May 21, 2022
Pontocerebellar hypoplasia type 1B1May 21, 2022
Pontocerebellar hypoplasia type 2C1Oct 22, 2019
Pontocerebellar hypoplasia type 46May 21, 2022
Pontocerebellar hypoplasia type 68May 21, 2022
Pontocerebellar hypoplasia, type 111Oct 22, 2019
Pontocerebellar hypoplasia, type 1C1Oct 22, 2019
Pontocerebellar hypoplasia, type 1D1Oct 22, 2019
Porencephaly 24May 21, 2022
Posterior column ataxia-retinitis pigmentosa syndrome3Oct 22, 2019
Posterior polymorphous corneal dystrophy 11Oct 22, 2019
Prader-Willi syndrome2May 21, 2022
Premature ovarian failure 11Oct 22, 2019
Preterm premature rupture of membranes1Oct 22, 2019
Primary CD59 deficiency1May 21, 2022
Primary ciliary dyskinesia 101Oct 22, 2019
Primary ciliary dyskinesia 131Oct 22, 2019
Primary ciliary dyskinesia 151Oct 22, 2019
Primary ciliary dyskinesia 32May 21, 2022
Primary ciliary dyskinesia 51Oct 22, 2019
Primary ciliary dyskinesia 72May 21, 2022
Primary coenzyme Q10 deficiency 82May 21, 2022
Primary erythromelalgia1May 21, 2022
Primary failure of tooth eruption2May 21, 2022
Primary familial polycythemia due to EPO receptor mutation1May 21, 2022
Primary hyperoxaluria, type I6Oct 22, 2019
Primary hypomagnesemia1Oct 22, 2019
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency1Oct 22, 2019
Primary open angle glaucoma4Oct 22, 2019
Progressive bulbar palsy of childhood3May 21, 2022
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 12May 21, 2022
Progressive familial heart block, type 1A2Oct 22, 2019
Progressive familial intrahepatic cholestasis type 122Apr 23, 2020
Progressive familial intrahepatic cholestasis type 25May 21, 2022
Progressive familial intrahepatic cholestasis type 31Nov 15, 2015
Progressive myoclonic epilepsy type 32May 21, 2022
Progressive myoclonic epilepsy type 72May 21, 2022
Progressive myoclonic epilepsy type 83Oct 29, 2019
Progressive myoclonic epilepsy type 91Oct 22, 2019
Progressive myositis ossificans1May 21, 2022
Progressive pseudorheumatoid dysplasia1May 21, 2022
Progressive sclerosing poliodystrophy12Oct 22, 2019
Propionic acidemia14May 21, 2022
Prostate cancer, hereditary, 22May 21, 2022
Prostate cancer, hereditary, 91May 21, 2022
Protoporphyria, erythropoietic, 16Oct 22, 2019
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome4Oct 22, 2019
Pseudohypoaldosteronism type 2D1Nov 15, 2015
Pseudohypoparathyroidism type I A2May 21, 2022
Pseudoxanthoma elasticum6Oct 22, 2019
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency1Oct 22, 2019
Pyknodysostosis2May 21, 2022
Pyridoxine-dependent epilepsy5May 21, 2022
Pyropoikilocytosis, hereditary4Oct 22, 2019
Pyruvate carboxylase deficiency3May 21, 2022
Pyruvate dehydrogenase E1-alpha deficiency6May 21, 2022
Pyruvate dehydrogenase E3 deficiency2May 21, 2022
Pyruvate kinase deficiency of red cells1Oct 22, 2019
Pyruvate kinase hyperactivity2May 21, 2022
RFT1-congenital disorder of glycosylation1May 21, 2022
RIN2 syndrome1Oct 22, 2019
Radial aplasia-thrombocytopenia syndrome4May 21, 2022
Rafiq syndrome1Oct 22, 2019
Rahman syndrome3May 21, 2022
Rajab interstitial lung disease with brain calcifications 12May 21, 2022
Rajab interstitial lung disease with brain calcifications 22May 21, 2022
Rare genetic deafness2Oct 29, 2019
Recessive dystrophic epidermolysis bullosa2Oct 22, 2019
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome1Oct 22, 2019
Renal carnitine transport defect7May 21, 2022
Renal coloboma syndrome1May 21, 2022
Renal hypodysplasia/aplasia 21Oct 22, 2019
Renal tubular acidosis with progressive nerve deafness2Oct 22, 2019
Renal-hepatic-pancreatic dysplasia 14May 21, 2022
Renpenning syndrome1Oct 22, 2019
Retinitis pigmentosa56May 21, 2022
Retinitis pigmentosa 11May 21, 2022
Retinitis pigmentosa 111May 21, 2022
Retinitis pigmentosa 132Oct 22, 2019
Retinitis pigmentosa 181Oct 22, 2019
Retinitis pigmentosa 2540May 21, 2022
Retinitis pigmentosa 264Oct 21, 2022
Retinitis pigmentosa 313May 21, 2022
Retinitis pigmentosa 387May 21, 2022
Retinitis pigmentosa 47Oct 22, 2019
Retinitis pigmentosa 418Oct 22, 2019
Retinitis pigmentosa 421May 21, 2022
Retinitis pigmentosa 433May 21, 2022
Retinitis pigmentosa 542Oct 22, 2019
Retinitis pigmentosa 601Oct 22, 2019
Retinitis pigmentosa 92Oct 22, 2019
Retinitis pigmentosa-deafness syndrome16Oct 22, 2019
Retinoblastoma52Oct 22, 2019
Rett syndrome24Aug 8, 2022
Rett syndrome, congenital variant4May 21, 2022
Rhabdoid tumor predisposition syndrome 29May 21, 2022
Rheumatoid arthritis1May 21, 2022
Rhizomelic chondrodysplasia punctata type 11Oct 22, 2019
Rhizomelic chondrodysplasia punctata type 21Oct 22, 2019
Ritscher-Schinzel syndrome 11Oct 22, 2019
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked2Oct 22, 2019
Rotor syndrome2May 21, 2022
Rubinstein-Taybi syndrome due to CREBBP mutations20May 21, 2022
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1Sep 1, 2015
SHORT syndrome2May 21, 2022
SHOX-related short stature2Oct 22, 2019
SIN3A-related intellectual disability syndrome due to a point mutation1Oct 22, 2019
SLC35A2-congenital disorder of glycosylation4May 21, 2022
SLC39A8-CDG3May 21, 2022
SRD5A3-congenital disorder of glycosylation1May 21, 2022
SSR4-congenital disorder of glycosylation1Jun 21, 2015
STING-associated vasculopathy with onset in infancy1Oct 29, 2019
Saethre-Chotzen syndrome1May 21, 2022
Saldino-Mainzer syndrome2Oct 22, 2019
Sandhoff disease2Oct 22, 2019
Sarcotubular myopathy2Oct 22, 2019
Schaaf-Yang syndrome1Oct 22, 2019
Schinzel-Giedion syndrome5Oct 22, 2019
Schuurs-Hoeijmakers syndrome1May 21, 2022
Schwannomatosis 12May 21, 2022
Schwartz-Jampel syndrome5Oct 22, 2019
Seckel syndrome 15Oct 22, 2019
Seckel syndrome 73Oct 22, 2019
Seizures, benign familial infantile, 331May 21, 2022
Seizures, benign familial neonatal, 120Sep 20, 2022
Seizures, benign familial neonatal, 22May 21, 2022
Senior-Loken syndrome 54Oct 22, 2019
Septo-optic dysplasia sequence2Oct 22, 2019
Severe X-linked myotubular myopathy3Oct 22, 2019
Severe combined immunodeficiency due to CARD11 deficiency1Oct 22, 2019
Severe combined immunodeficiency due to DCLRE1C deficiency4Oct 22, 2019
Severe combined immunodeficiency due to IKK2 deficiency1Oct 22, 2019
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency3May 21, 2022
Severe early-childhood-onset retinal dystrophy49May 28, 2022
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency2Oct 22, 2019
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome5May 21, 2022
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome3Oct 22, 2019
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome1Oct 22, 2019
Severe myoclonic epilepsy in infancy64Nov 8, 2020
Shashi-Pena syndrome1Oct 22, 2019
Short QT syndrome type 16May 21, 2022
Short stature1Oct 29, 2019
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans2May 21, 2022
Short stature due to primary acid-labile subunit deficiency1Oct 22, 2019
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies1Oct 22, 2019
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay1May 21, 2022
Short stature-pituitary and cerebellar defects-small sella turcica syndrome4Oct 22, 2019
Short-rib thoracic dysplasia 11 with or without polydactyly1Oct 22, 2019
Short-rib thoracic dysplasia 13 with or without polydactyly1May 21, 2022
Short-rib thoracic dysplasia 8 with or without polydactyly1Oct 22, 2019
Shprintzen-Goldberg syndrome1Oct 22, 2019
Shwachman-Diamond syndrome 14May 21, 2022
Sialuria1May 21, 2022
Sifrim-Hitz-Weiss syndrome1Oct 22, 2019
Simpson-Golabi-Behmel syndrome type 22May 21, 2022
Singleton-Merten syndrome 16May 21, 2022
Singleton-Merten syndrome 21Oct 22, 2019
Sinoatrial node dysfunction and deafness4Oct 22, 2019
Sitosterolemia3Oct 22, 2019
Sjögren-Larsson syndrome4May 21, 2022
Skraban-Deardorff syndrome5May 21, 2022
Smith-Lemli-Opitz syndrome1May 21, 2022
Smith-Magenis syndrome5May 21, 2022
Snijders Blok-Campeau syndrome2May 21, 2022
Snijders blok-fisher syndrome3May 21, 2022
Somatotroph adenoma2Oct 22, 2019
Sotos syndrome 119May 21, 2022
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy1May 21, 2022
Spastic paraplegia 52, autosomal recessive1May 21, 2022
Spastic paraplegia 80, autosomal dominant1May 21, 2022
Spastic paraplegia, intellectual disability, nystagmus, and obesity;1May 21, 2022
Spastic paraplegia-severe developmental delay-epilepsy syndrome1Oct 22, 2019
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome2May 21, 2022
Spermatogenic failure 282May 21, 2022
Sphingolipid activator protein 1 deficiency1May 21, 2022
Spinal muscular atrophy with congenital bone fractures 11Oct 22, 2019
Spinal muscular atrophy with congenital bone fractures 22Oct 22, 2019
Spinocerebellar ataxia 464Oct 22, 2019
Spinocerebellar ataxia type 111Oct 22, 2019
Spinocerebellar ataxia type 132Oct 22, 2019
Spinocerebellar ataxia type 143Oct 22, 2019
Spinocerebellar ataxia type 21Oct 22, 2019
Spinocerebellar ataxia type 233Oct 22, 2019
Spinocerebellar ataxia type 294May 21, 2022
Spinocerebellar ataxia type 353Oct 22, 2019
Spinocerebellar ataxia type 51Oct 22, 2019
Sponastrime dysplasia2Oct 22, 2019
Spondylo-megaepiphyseal-metaphyseal dysplasia1May 21, 2022
Spondylo-ocular syndrome1Oct 22, 2019
Spondyloenchondrodysplasia with immune dysregulation1Oct 22, 2019
Spondyloepimetaphyseal dysplasia with multiple dislocations2May 21, 2022
Spondyloepimetaphyseal dysplasia, PAPSS2 type2May 21, 2022
Spondyloepimetaphyseal dysplasia, Strudwick type1Oct 22, 2019
Spondyloepiphyseal dysplasia with congenital joint dislocations1May 21, 2022
Squamous cell carcinoma of the head and neck37Oct 22, 2019
Stankiewicz-Isidor syndrome1Oct 22, 2019
Stargardt disease 41May 21, 2022
Sterol carrier protein 2 deficiency1Oct 22, 2019
Stickler syndrome type 124May 21, 2022
Structural heart defects and renal anomalies syndrome1Oct 22, 2019
Subcutaneous panniculitis-like T-cell lymphoma1May 21, 2022
Succinate-semialdehyde dehydrogenase deficiency1Oct 22, 2019
Succinyl-CoA acetoacetate transferase deficiency3May 21, 2022
Sucrase-isomaltase deficiency2Oct 22, 2019
Sulfite oxidase deficiency6Oct 22, 2019
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A3Oct 22, 2019
Supravalvar aortic stenosis1Oct 22, 2019
Surfactant metabolism dysfunction, pulmonary, 45May 21, 2022
Symmetrical dyschromatosis of extremities4Oct 22, 2019
Syndromic X-linked intellectual disability 141Oct 22, 2019
Syndromic X-linked intellectual disability 944May 21, 2022
Syndromic X-linked intellectual disability Claes-Jensen type4May 21, 2022
Syndromic X-linked intellectual disability Najm type9May 9, 2020
Syndromic X-linked intellectual disability Nascimento type1Oct 22, 2019
Syndromic X-linked intellectual disability Siderius type1Oct 22, 2019
Syndromic microphthalmia type 52Oct 22, 2019
T-B+ severe combined immunodeficiency due to JAK3 deficiency4Oct 22, 2019
TELO2-related intellectual disability-neurodevelopmental disorder3May 21, 2022
TMEM165-congenital disorder of glycosylation1Oct 22, 2019
TNF receptor-associated periodic fever syndrome (TRAPS)4May 21, 2022
TWIST1-related craniosynostosis1Oct 22, 2019
Tall stature-intellectual disability-facial dysmorphism syndrome1Oct 22, 2019
Tangier disease1Oct 22, 2019
Tay-Sachs disease6May 21, 2022
Tay-Sachs disease, variant AB1May 21, 2022
Teebi hypertelorism syndrome3Oct 22, 2019
Telangiectasia, hereditary hemorrhagic, type 12Oct 22, 2019
Telangiectasia, hereditary hemorrhagic, type 22Oct 22, 2019
Temtamy syndrome1Oct 22, 2019
Thrombocytopenia 21Oct 22, 2019
Thrombophilia 13, X-linked, due to factor VIII defect35May 21, 2022
Thrombophilia due to activated protein C resistance1May 21, 2022
Thrombophilia due to protein C deficiency, autosomal dominant2Oct 22, 2019
Thrombophilia due to protein S deficiency, autosomal dominant4Oct 22, 2019
Thrombophilia due to thrombin defect2Jan 25, 2023
Thrombophilia, X-linked, due to factor 9 defect6May 21, 2022
Thyroglobulin synthesis defect1Oct 22, 2019
Thyroid dyshormonogenesis 65May 21, 2022
Thyroid hormone resistance, generalized, autosomal dominant1Oct 22, 2019
Tibial muscular dystrophy2May 21, 2022
Tietz syndrome2May 21, 2022
Timothy syndrome10May 21, 2022
Tooth agenesis, selective, 91May 21, 2022
Torsion dystonia 41May 21, 2022
Townes-Brocks syndrome 13Oct 22, 2019
Transcobalamin II deficiency3Oct 22, 2019
Transient bullous dermolysis of the newborn18May 21, 2022
Treacher Collins syndrome 16May 21, 2022
Trichohepatoenteric syndrome 12May 21, 2022
Trichorhinophalangeal dysplasia type I1Oct 22, 2019
Trimethylaminuria2May 21, 2022
Tuberous sclerosis 117May 21, 2022
Tuberous sclerosis 237Oct 22, 2019
Tumoral calcinosis, hyperphosphatemic, familial, 11Oct 22, 2019
Type II diabetes mellitus16May 21, 2022
Tyrosinase-negative oculocutaneous albinism5May 21, 2022
Tyrosinase-positive oculocutaneous albinism4Oct 22, 2019
Tyrosinemia type I7May 21, 2022
Tyrosinemia type II1May 21, 2022
UDPglucose-4-epimerase deficiency2Oct 22, 2019
UV-sensitive syndrome 31Oct 22, 2019
Ullrich congenital muscular dystrophy 21Oct 22, 2019
Uncombable hair syndrome 11May 21, 2022
Upshaw-Schulman syndrome5Oct 22, 2019
Urofacial syndrome type 11Oct 22, 2019
Usher syndrome type 12Apr 25, 2020
Usher syndrome type 1C1Oct 22, 2019
Usher syndrome type 1D2May 21, 2022
Usher syndrome type 1F6Oct 22, 2019
Usher syndrome type 2A53Sep 13, 2022
Usher syndrome type 2C14Oct 22, 2019
Usher syndrome type 31Oct 22, 2019
Uveal coloboma-cleft lip and palate-intellectual disability2May 21, 2022
Van Maldergem syndrome 23Oct 22, 2019
Van den Ende-Gupta syndrome1Oct 22, 2019
Van der Woude syndrome 11Nov 15, 2015
Vanishing white matter disease5May 21, 2022
Variegate porphyria1Oct 22, 2019
Vasculitis due to ADA2 deficiency2Oct 22, 2019
Vertebral anomalies and variable endocrine and T-cell dysfunction1May 21, 2022
Ververi-Brady syndrome3Oct 22, 2019
Very long chain acyl-CoA dehydrogenase deficiency10May 21, 2022
Vesicoureteral reflux 21Oct 22, 2019
Vesicoureteral reflux 31Oct 22, 2019
Vibratory urticaria1May 21, 2022
Vici syndrome4Oct 22, 2019
Visceral myopathy1Oct 22, 2019
Vitamin D-dependent rickets type II with alopecia3May 21, 2022
Vitamin D-dependent rickets, type 11Oct 22, 2019
Vitamin D-dependent rickets, type 1A1May 21, 2022
Vitamin D-dependent rickets, type 31May 21, 2022
Vitelliform macular dystrophy 25May 21, 2022
Von Hippel-Lindau syndrome8Oct 22, 2019
WHIM syndrome 11May 21, 2022
Waardenburg syndrome type 12Oct 22, 2019
Waardenburg syndrome type 4A1Oct 22, 2019
Waardenburg syndrome type 4B2Oct 22, 2019
Wagner syndrome1Oct 22, 2019
Warsaw breakage syndrome3Oct 22, 2019
Webb-Dattani syndrome2Oct 29, 2019
Weill-Marchesani syndrome 11Oct 22, 2019
Weill-Marchesani syndrome 31Oct 22, 2019
Weiss-kruszka syndrome2Oct 29, 2019
Welander distal myopathy1Oct 22, 2019
Werner syndrome7Oct 22, 2019
Wieacker-Wolff syndrome1Oct 22, 2019
Wiedemann-Steiner syndrome20May 21, 2022
Wilms tumor 121Oct 22, 2019
Wilson disease22May 21, 2022
Winchester syndrome2Oct 22, 2019
Wiskott-Aldrich syndrome 21Oct 22, 2019
Wolcott-Rallison dysplasia3Oct 22, 2019
Wolfram syndrome 19Oct 22, 2019
Woodhouse-Sakati syndrome2Oct 22, 2019
X-linked Alport syndrome16May 21, 2022
X-linked Emery-Dreifuss muscular dystrophy1Oct 22, 2019
X-linked agammaglobulinemia7Oct 22, 2019
X-linked distal spinal muscular atrophy type 36May 21, 2022
X-linked epilepsy-learning disabilities-behavior disorders syndrome1Oct 22, 2019
X-linked hydrocephalus syndrome6Oct 22, 2019
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia1Oct 22, 2019
X-linked intellectual disability Cabezas type1Oct 22, 2019
X-linked intellectual disability, Cantagrel type3May 21, 2022
X-linked intellectual disability-cerebellar hypoplasia syndrome2May 21, 2022
X-linked intellectual disability-psychosis-macroorchidism syndrome9May 21, 2022
X-linked lymphoproliferative disease due to SH2D1A deficiency2May 21, 2022
X-linked lymphoproliferative disease due to XIAP deficiency4Oct 22, 2019
X-linked severe combined immunodeficiency4May 21, 2022
X-linked severe congenital neutropenia6May 21, 2022
X-linked sideroblastic anemia 13Oct 6, 2022
Xanthinuria type II2Oct 22, 2019
Xeroderma pigmentosum group B8Oct 22, 2019
Xeroderma pigmentosum variant type2May 21, 2022
Xeroderma pigmentosum, group C4May 21, 2022
Xeroderma pigmentosum, group D8May 21, 2022
Xeroderma pigmentosum, group F7Oct 22, 2019
Xeroderma pigmentosum, group G5Oct 22, 2019
Young adult-onset distal hereditary motor neuropathy1Nov 15, 2015
Yunis-Varon syndrome1May 21, 2022
ZTTK syndrome3May 21, 2022
Zimmermann-Laband syndrome 21Oct 22, 2019
Zimmermann-Laband syndrome with epileptic encephalopathy1Jun 16, 2019
beta Thalassemia11Oct 22, 2019
intellectual deficiency2Jan 29, 2019
not provided83Dec 13, 2022
not specified1945Aug 8, 2022
von Willebrand disease type 15May 21, 2022
von Willebrand disease type 31Oct 22, 2019
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