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3billion

General information

3billion

416 Teheran-ro, Gangnam-gu
Seoul
South Korea - 06193
https://3billion.io/
Organization ID: 507830

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 5271

Gene

GeneSubmissionsLast Updated
AAAS3Mar 9, 2023
AAGAB1Jan 11, 2022
AARS12May 28, 2022
AARS22May 28, 2022
ABCA124Sep 4, 2022
ABCA21Jul 18, 2023
ABCA434Jul 18, 2023
ABCB1111Mar 9, 2023
ABCB44May 28, 2022
ABCC28Mar 9, 2023
ABCC66Jul 18, 2023
ABCC812Jul 18, 2023
ABCC91Sep 4, 2022
ABCD114Jul 18, 2023
ABHD51Jul 18, 2023
ABL14Mar 25, 2022
ACADM1Jan 11, 2022
ACADS1Mar 9, 2023
ACADVL2Mar 9, 2023
ACAN5Jul 18, 2023
ACAT12Jul 18, 2023
ACBD62Sep 4, 2022
ACE1Nov 5, 2021
ACO22Nov 7, 2021
ACOX11May 28, 2022
ACOX21May 28, 2022
ACP53Sep 4, 2022
ACTA12Sep 4, 2022
ACTB6Mar 9, 2023
ACTC14Sep 4, 2022
ACTG18Mar 9, 2023
ACTG22Jul 18, 2023
ACTL6B3Sep 4, 2022
ACTN11Jan 11, 2022
ACTN22Jul 15, 2024
ACTN42Jul 18, 2023
ACVR11Mar 25, 2022
ACVRL11Sep 4, 2022
ADA1Sep 4, 2022
ADA23Mar 25, 2022
ADAM171Sep 4, 2022
ADAMTS132Sep 4, 2022
ADAMTS173May 28, 2022
ADAR2Mar 9, 2023
ADGRG14Jul 18, 2023
ADGRV11Jan 11, 2022
ADH51Nov 5, 2021
ADK1Mar 9, 2023
ADNP6Mar 9, 2023
ADNP-AS11Jan 11, 2022
ADPRS2Jul 18, 2023
ADSL2Jul 18, 2023
ADSS12Mar 25, 2022
AFF31Mar 9, 2023
AFF41Nov 5, 2021
AFG2A2May 28, 2022
AFG3L23Mar 9, 2023
AGA2Mar 9, 2023
AGA-DT2Mar 9, 2023
AGL12Mar 9, 2023
AGO22Mar 9, 2023
AGPAT21May 28, 2022
AGXT2Mar 9, 2023
AHDC15Jul 18, 2023
AHI13Mar 9, 2023
AICDA2Jul 18, 2023
AIFM13Mar 9, 2023
AIMP11May 28, 2022
AIPL17Mar 9, 2023
AIRE2May 28, 2022
AKT32Nov 5, 2021
ALB1Jul 18, 2023
ALDH18A16Mar 9, 2023
ALDH1A31Jan 11, 2022
ALDH1A3-AS11Jan 11, 2022
ALDH3A21May 28, 2022
ALDH4A12Mar 25, 2022
ALDH5A14Mar 9, 2023
ALDH7A13Mar 9, 2023
ALDOB2Mar 9, 2023
ALG13Sep 4, 2022
ALG111Sep 4, 2022
ALG31Mar 9, 2023
ALG82Mar 25, 2022
ALKBH81Nov 5, 2021
ALMS14Sep 4, 2022
ALOX12B1Mar 25, 2022
ALPK38Jul 18, 2023
ALS22Mar 9, 2023
ALX11Jul 18, 2023
AMD11Jul 18, 2023
AMER12Jul 18, 2023
AMHR21Sep 4, 2022
AMN2Sep 4, 2022
AMPD21Sep 4, 2022
AMT7Jul 18, 2023
ANAPC151Sep 4, 2022
ANK16Mar 9, 2023
ANKRD1118Jul 18, 2023
ANKRD174Jul 18, 2023
ANO11Mar 25, 2022
ANO103Sep 4, 2022
ANO55Jul 18, 2023
ANOS11Sep 4, 2022
ANTXR21Jan 11, 2022
ANXA111Mar 9, 2023
AP1G12Jul 18, 2023
AP1G21Nov 7, 2021
AP1G2-AS11Nov 7, 2021
AP1S21Mar 9, 2023
AP2M11Nov 5, 2021
AP2S11Mar 25, 2022
AP3B22Mar 9, 2023
AP4B11Mar 25, 2022
AP4M14Jul 18, 2023
AP4S11May 28, 2022
APBB11Sep 4, 2022
APC1Jan 11, 2022
APC22Mar 9, 2023
APOA11May 28, 2022
APOA1-AS1May 28, 2022
APOB2Jul 18, 2023
APOE3Jul 18, 2023
APTX1Jan 11, 2022
AQP24Jul 18, 2023
AQP5-AS12Jul 18, 2023
AR12Jul 18, 2023
ARCN12May 28, 2022
ARFGEF11Jul 18, 2023
ARFGEF21Sep 4, 2022
ARG11Jan 11, 2022
ARHGEF91Mar 9, 2023
ARID1A2Jul 18, 2023
ARID1B31Jul 18, 2023
ARID25Sep 4, 2022
ARSA8Jul 18, 2023
ARSB2Mar 9, 2023
ARSG1Sep 4, 2022
ARSL2Mar 9, 2023
ARX3May 28, 2022
ASH1L2Mar 9, 2023
ASIC4-AS11Jul 18, 2023
ASL2Jul 18, 2023
ASNS4Sep 4, 2022
ASPA2Sep 4, 2022
ASPM11Sep 4, 2022
ASS16May 28, 2022
ASXL13Sep 4, 2022
ASXL38Mar 9, 2023
ATAD3A3May 28, 2022
ATL13Mar 9, 2023
ATM32Mar 9, 2023
ATN11May 28, 2022
ATP11A1Mar 9, 2023
ATP13A22Jul 18, 2023
ATP1A12May 28, 2022
ATP1A1-AS11May 28, 2022
ATP1A22Sep 4, 2022
ATP1A313Mar 9, 2023
ATP2A11Mar 9, 2023
ATP2B11Mar 9, 2023
ATP2B21Sep 4, 2022
ATP2B31Sep 4, 2022
ATP6AP11Mar 9, 2023
ATP6V0A41Sep 4, 2022
ATP6V1B12Jul 18, 2023
ATP7A2Mar 25, 2022
ATP7B10Jul 18, 2023
ATP8A24Mar 9, 2023
ATP8B12May 28, 2022
ATPAF21May 28, 2022
ATRIP3Mar 9, 2023
ATRIP-TREX13Mar 9, 2023
ATRX8Mar 9, 2023
ATXN7L3-AS11Mar 9, 2023
AUH1Jan 11, 2022
AUTS22Mar 9, 2023
AVPR23May 28, 2022
AXDND11Mar 25, 2022
B3GALNT22May 28, 2022
B3GALT61May 28, 2022
B3GAT31Mar 25, 2022
B3GLCT1May 28, 2022
B4GALNT11Mar 25, 2022
BBS14Sep 4, 2022
BBS103Jan 11, 2022
BBS24May 28, 2022
BBS52Jan 11, 2022
BBS74Sep 4, 2022
BCAS31May 28, 2022
BCAS3-AS11May 28, 2022
BCKDHB1Sep 4, 2022
BCL11B1Jul 18, 2023
BCOR2Mar 9, 2023
BCORL11Jul 18, 2023
BEST110Mar 9, 2023
BICD21Mar 9, 2023
BIVM-ERCC51Sep 4, 2022
BLM1Jul 18, 2023
BLOC1S1-RDH52May 28, 2022
BMP11May 28, 2022
BMPR1A1May 28, 2022
BMPR21Jul 18, 2023
BOLA31Mar 9, 2023
BPNT21Sep 4, 2022
BRAF12May 28, 2022
BRAT11Jul 18, 2023
BRCA11Mar 9, 2023
BRF13Mar 9, 2023
BRPF12Jan 11, 2022
BRSK21May 28, 2022
BSCL21May 28, 2022
BSND1May 28, 2022
BTD3Mar 9, 2023
BTK6Mar 9, 2023
BUB1B2Nov 5, 2021
C10orf1053Sep 4, 2022
C11orf6514Mar 9, 2023
C12orf431Mar 25, 2022
C12orf603Mar 25, 2022
C17orf1073Jun 28, 2024
C19orf123Sep 4, 2022
C1QTNF51Jan 11, 2022
C1S1Sep 4, 2022
CA21Jan 11, 2022
CACNA1A13Jul 18, 2023
CACNA1C3Mar 9, 2023
CACNA1E2Mar 9, 2023
CACNA1G1Sep 4, 2022
CACNA1S1Jan 18, 2024
CACNA2D22May 28, 2022
CAMK2B4Mar 9, 2023
CAMK2G2May 28, 2022
CAMTA11Nov 7, 2021
CANT13May 28, 2022
CAPN11Jan 11, 2022
CAPN312Mar 9, 2023
CARD141Jul 18, 2023
CARD91May 28, 2022
CARMIL22Sep 4, 2022
CARS12Jan 11, 2022
CASD14Jul 18, 2023
CASK9Mar 9, 2023
CAST2Jan 11, 2022
CAV31Mar 25, 2022
CBL3Jul 18, 2023
CBS5Mar 9, 2023
CC2D2A5Jan 11, 2022
CCDC394Mar 9, 2023
CCDC402Sep 4, 2022
CCDC472Mar 25, 2022
CCDST8Jul 18, 2023
CCM21Jan 11, 2022
CCN64Sep 4, 2022
CCNO2Jan 11, 2022
CD2AP1Sep 4, 2022
CD364Sep 4, 2022
CD40LG2Jul 18, 2023
CD462Mar 9, 2023
CD631May 28, 2022
CDC42BPB2Sep 4, 2022
CDH2320Jun 28, 2024
CDH23-AS11May 28, 2022
CDK136Jul 18, 2023
CDK191Jul 18, 2023
CDK82Mar 9, 2023
CDKL515Jul 18, 2023
CDKN1B1Jan 11, 2022
CDSN1Mar 9, 2023
CEACAM161Sep 4, 2022
CEACAM16-AS11Sep 4, 2022
CEP1352Sep 4, 2022
CEP1522Nov 5, 2021
CEP1641Jan 11, 2022
CEP2907Sep 4, 2022
CEP781May 28, 2022
CEP85L1Mar 9, 2023
CERKL2Jan 11, 2022
CFAP4181Jan 11, 2022
CFAP961Mar 25, 2022
CFH3Sep 4, 2022
CFI2Sep 4, 2022
CFTR11Jul 18, 2023
CFTR-AS14Jul 18, 2023
CHAMP13Jul 18, 2023
CHAT3Jan 11, 2022
CHCHD101Mar 9, 2023
CHD11Sep 4, 2022
CHD23Sep 4, 2022
CHD36Jul 18, 2023
CHD41Jan 11, 2022
CHD51Mar 9, 2023
CHD722Jul 18, 2023
CHD82Jul 18, 2023
CHKB1Jan 11, 2022
CHKB-CPT1B1Jan 11, 2022
CHM4Mar 9, 2023
CHRM11Nov 7, 2021
CHRNA12May 28, 2022
CHRND5Sep 4, 2022
CHRNE5Jun 28, 2024
CHRNG3May 28, 2022
CHROMR2Mar 9, 2023
CHST141Mar 9, 2023
CHST31Jul 18, 2023
CIBAR11May 28, 2022
CIC1Mar 9, 2023
CISD21Sep 4, 2022
CIT1Jan 11, 2022
CKAP2L1Jul 18, 2023
CLCN14Sep 4, 2022
CLCN21Mar 25, 2022
CLCN34Jul 18, 2023
CLCN45Jul 18, 2023
CLCN52Mar 9, 2023
CLCN71May 28, 2022
CLCNKB1Jan 11, 2022
CLDN141May 28, 2022
CLDN14-AS11May 28, 2022
CLDN194May 28, 2022
CLDN51Jul 18, 2023
CLIC21Nov 7, 2021
CLN33May 28, 2022
CLN63Mar 25, 2022
CLN84Sep 4, 2022
CLPB1Sep 4, 2022
CLRN11Jan 11, 2022
CLRN21Jan 11, 2022
CLTC4Jul 18, 2023
CNGA13Jul 18, 2023
CNGA33Sep 4, 2022
CNGB14May 28, 2022
CNGB36May 28, 2022
CNKSR22May 28, 2022
CNNM41Jan 11, 2022
CNOT33Jul 18, 2023
CNTN21Mar 25, 2022
CNTNAP23Jul 18, 2023
COA82Jan 11, 2022
COCH1Jan 11, 2022
COG71Sep 4, 2022
COL11A19Jul 18, 2023
COL11A25Jul 18, 2023
COL12A12Jul 18, 2023
COL1A134Jul 18, 2023
COL1A213Jul 18, 2023
COL2A118Jul 18, 2023
COL3A11Jan 11, 2022
COL4A113Jul 18, 2023
COL4A21Jan 11, 2022
COL4A314Jul 18, 2023
COL4A426Jul 18, 2023
COL4A538Jul 18, 2023
COL5A11May 28, 2022
COL6A16Mar 9, 2023
COL6A27Mar 9, 2023
COL6A33Mar 25, 2022
COL7A123Jun 28, 2024
COL9A11Mar 9, 2023
COL9A21Nov 5, 2021
COL9A31Sep 4, 2022
COLQ2Mar 9, 2023
COMP1Mar 9, 2023
COPA1Mar 25, 2022
COQ63Sep 4, 2022
COQ8A3Jul 18, 2023
COQ8B4Mar 9, 2023
COX202Nov 5, 2021
COX6A11Sep 4, 2022
CP1Jan 11, 2022
CPAMD81Jan 11, 2022
CPEB1-AS12Mar 9, 2023
CPLANE13May 28, 2022
CPLX11Sep 4, 2022
CPS14Jan 11, 2022
CPT1A1Sep 4, 2022
CPT24Jul 18, 2023
CRB113Jul 18, 2023
CREB3L11May 28, 2022
CREBBP13Jul 18, 2023
CRLF11Mar 25, 2022
CRPPA2Mar 9, 2023
CRTAP3May 28, 2022
CRX3Jul 18, 2023
CRYBB21May 28, 2022
CSF1R3Mar 9, 2023
CSNK2A15May 28, 2022
CSNK2B3Jan 11, 2022
CSPP13Sep 4, 2022
CSRP31Jan 11, 2022
CTBP11Jan 11, 2022
CTBP1-AS1Jan 11, 2022
CTCF1Sep 4, 2022
CTLA41Jan 11, 2022
CTNNB113Jul 18, 2023
CTNND11Jan 11, 2022
CTNS6Mar 9, 2023
CTNS-AS11Mar 9, 2023
CTSA1Sep 4, 2022
CTSC1May 28, 2022
CTSF1Jul 18, 2023
CTU21Jan 11, 2022
CTXN2-AS11Nov 5, 2021
CUBN4Sep 4, 2022
CUL31Nov 7, 2021
CUL4B3Mar 9, 2023
CUL75Jul 18, 2023
CWC271May 28, 2022
CWF19L11Mar 25, 2022
CXCR41Mar 25, 2022
CYBB1Mar 9, 2023
CYFIP22Jul 18, 2023
CYP11B19Mar 9, 2023
CYP11B25Mar 9, 2023
CYP19A11Sep 4, 2022
CYP1B15May 28, 2022
CYP21A219Sep 4, 2022
CYP24A11Jan 11, 2022
CYP26B11Jul 18, 2023
CYP27A13Mar 9, 2023
CYP27B15Jul 18, 2023
CYP2U12Nov 7, 2021
CYP4F222Mar 9, 2023
CYP4V23Jul 18, 2023
CYP7B11Mar 9, 2023
CZ1P-ASNS4Sep 4, 2022
DAAM21Sep 4, 2022
DARS21Mar 9, 2023
DBT1Jan 11, 2022
DCDC23Sep 4, 2022
DCX4Sep 4, 2022
DDB23Jul 18, 2023
DDHD21Mar 9, 2023
DDR23May 28, 2022
DDX112Mar 9, 2023
DDX3X8Jul 18, 2023
DEAF11May 28, 2022
DENND5A1Jan 11, 2022
DEPDC53Mar 9, 2023
DES5Jul 18, 2023
DGAT11Sep 4, 2022
DGKE1Sep 4, 2022
DGUOK2Jul 18, 2023
DGUOK-AS11Mar 25, 2022
DHCR73May 28, 2022
DHDDS5Mar 9, 2023
DHH1Jul 18, 2023
DHX302Mar 9, 2023
DHX371May 28, 2022
DICER12May 28, 2022
DIPK1A4Sep 4, 2022
DIS3L21Jan 11, 2022
DKC12Mar 9, 2023
DLG43Mar 9, 2023
DLL31Sep 4, 2022
DLL41Nov 5, 2021
DMD31Jul 18, 2023
DNA22Jan 11, 2022
DNAAF111Mar 25, 2022
DNAAF31May 28, 2022
DNAAF3-AS11May 28, 2022
DNAAF61Sep 4, 2022
DNAH112May 28, 2022
DNAH21Jan 11, 2022
DNAH56Sep 4, 2022
DNAH93Mar 25, 2022
DNAI21May 28, 2022
DNAJC212Sep 4, 2022
DNAJC301Sep 4, 2022
DNAL11May 28, 2022
DNASE1L32Mar 9, 2023
DNM11Nov 7, 2021
DNM1L2Jul 18, 2023
DNM22Jul 18, 2023
DNMT11Sep 4, 2022
DNMT3A3Mar 9, 2023
DOCK11Jan 11, 2022
DOCK65Jul 18, 2023
DOCK71May 28, 2022
DOCK81May 28, 2022
DOHH1Jul 18, 2023
DOK72Mar 9, 2023
DPAGT12Jan 11, 2022
DPF21Nov 7, 2021
DPH11May 28, 2022
DPH51Mar 9, 2023
DPM11Jan 11, 2022
DPYD1Jan 11, 2022
DPYS2Jan 11, 2022
DSG11Jan 11, 2022
DSG21Jul 18, 2023
DSP1Jan 11, 2022
DSPP2Mar 9, 2023
DST4Sep 4, 2022
DSTYK1Jan 11, 2022
DUOX28Mar 9, 2023
DUOXA22Mar 9, 2023
DUSP291Jan 11, 2022
DVL11Nov 17, 2021
DYM2May 28, 2022
DYM-AS11May 28, 2022
DYNC1H112Jul 18, 2023
DYNC2H17Jul 18, 2023
DYNC2I21Mar 25, 2022
DYRK1A9Mar 9, 2023
DYSF7Jul 18, 2023
DZIP1L1Sep 4, 2022
EARS23Mar 9, 2023
EBF34Mar 25, 2022
EBP2May 28, 2022
ECEL15Jul 18, 2023
ECHS13Sep 4, 2022
ECM12May 28, 2022
EDA6Mar 9, 2023
EDAR2Jan 11, 2022
EDARADD1Jan 11, 2022
EDNRB2Mar 25, 2022
EDNRB-AS12Mar 25, 2022
EEF1A22Jan 11, 2022
EFL11Mar 9, 2023
EFNB11May 28, 2022
EFTUD23Jul 18, 2023
EHMT14Sep 4, 2022
EIF2AK31Mar 9, 2023
EIF2B41Mar 9, 2023
EIF2B54Jul 18, 2023
EIF3F1Jan 11, 2022
ELAC22Mar 25, 2022
ELANE1May 28, 2022
ELMO22Sep 4, 2022
ELN1Nov 5, 2021
ELOVL51Sep 4, 2022
EMC12Nov 5, 2021
EMC1-AS11Nov 5, 2021
EMC102Nov 5, 2021
EMD2Mar 9, 2023
ENG3Mar 25, 2022
ENPP11May 28, 2022
ENTPD52Sep 4, 2022
EOGT1Nov 5, 2021
EP30012Mar 9, 2023
EPB411Mar 9, 2023
EPHA21May 28, 2022
ERCC22Nov 5, 2021
ERCC51Sep 4, 2022
ERCC67Jul 18, 2023
ERCC81Jan 11, 2022
ERF2Mar 25, 2022
ERMARD1Nov 5, 2021
ESCO21Jul 18, 2023
ESPN2Jul 18, 2023
ETFDH7Mar 9, 2023
ETHE11Mar 9, 2023
ETS11Jan 11, 2022
EVC1Jan 11, 2022
EXOSC31Jul 18, 2023
EXOSC91Mar 25, 2022
EXT14Jul 18, 2023
EYA41May 28, 2022
EYS12Jul 16, 2023
EZH22Mar 9, 2023
F101Mar 25, 2022
F111Sep 4, 2022
F13A12Sep 4, 2022
F53Mar 9, 2023
F71Mar 9, 2023
F823Mar 9, 2023
F95Jul 18, 2023
FA2H2Jul 18, 2023
FAH6Mar 9, 2023
FAM111A1Sep 4, 2022
FAM161A1May 28, 2022
FAM20A1Jul 18, 2023
FAM20C1Jan 11, 2022
FAM50A1Mar 9, 2023
FANCA7Mar 9, 2023
FANCB2Mar 9, 2023
FANCD21Sep 4, 2022
FANCD2OS1Sep 4, 2022
FANCG1May 28, 2022
FANCL1Sep 4, 2022
FAR12Mar 9, 2023
FARS23Mar 9, 2023
FAS1Sep 4, 2022
FASTKD21Jan 11, 2022
FAT12Jan 11, 2022
FBN132Jul 18, 2023
FBN24Mar 9, 2023
FBP13May 28, 2022
FBXL43Jul 18, 2023
FBXO113Mar 9, 2023
FBXO381Jan 11, 2022
FCSK1Sep 4, 2022
FDXR3Mar 9, 2023
FERMT12Jan 11, 2022
FERRY31Jan 11, 2022
FGA1Jan 11, 2022
FGB1May 28, 2022
FGD14Jul 18, 2023
FGF101Jul 18, 2023
FGF121Nov 5, 2021
FGF31Mar 25, 2022
FGFR16Mar 9, 2023
FGFR27Jul 18, 2023
FGFR38Mar 9, 2023
FH4May 28, 2022
FHL11Jul 18, 2023
FIG41Sep 4, 2022
FKBP104Jul 18, 2023
FKRP1Mar 9, 2023
FKTN1Jan 11, 2022
FLG8Jul 18, 2023
FLNA4Mar 9, 2023
FLNB5Jul 18, 2023
FLNC3Mar 9, 2023
FLT31Jul 18, 2023
FOXC16May 28, 2022
FOXC22May 28, 2022
FOXC2-AS11Mar 25, 2022
FOXE32May 28, 2022
FOXG19Sep 4, 2022
FOXL25Sep 4, 2022
FOXP16Mar 9, 2023
FRAS13Mar 9, 2023
FREM12Mar 9, 2023
FREM23May 28, 2022
FRMD51Jul 18, 2023
FRMD71Nov 7, 2021
FRMPD42Mar 9, 2023
FRRS1L1Nov 5, 2021
FRYL1Jan 11, 2022
FTL1Nov 5, 2021
FUCA11Mar 9, 2023
FUS1Jan 11, 2022
FUT82May 28, 2022
FZD44Sep 4, 2022
FZD61Jan 11, 2022
G6PC15Sep 4, 2022
G6PC32Mar 9, 2023
G6PD2Jul 18, 2023
GAA8May 28, 2022
GABBR22Mar 9, 2023
GABRB22Jan 11, 2022
GABRB32Mar 9, 2023
GABRG24Mar 25, 2022
GALC9Mar 9, 2023
GALK11Jan 11, 2022
GALM1May 28, 2022
GALNS8May 28, 2022
GALT4May 28, 2022
GAN3Sep 4, 2022
GANAB2Mar 25, 2022
GARIN5A1Nov 5, 2021
GARS13Jul 18, 2023
GATA33Mar 9, 2023
GATA41Jul 18, 2023
GATAD2B2Jan 11, 2022
GBA12Jan 11, 2022
GBA21Jul 18, 2023
GCDH5Mar 9, 2023
GCH15Mar 9, 2023
GCK8Mar 9, 2023
GCM22Mar 9, 2023
GCNT21May 28, 2022
GCSH1Sep 4, 2022
GDAP18Mar 9, 2023
GDF51Jan 11, 2022
GDI12Sep 4, 2022
GEMIN51Mar 9, 2023
GFAP3Mar 25, 2022
GFM12Mar 9, 2023
GFM22Mar 9, 2023
GFPT14Mar 9, 2023
GFRA11Sep 4, 2022
GH-LCR5Jul 18, 2023
GH11Mar 9, 2023
GHR2Sep 4, 2022
GHRHR1Jan 11, 2022
GJA11Nov 5, 2021
GJA84Mar 9, 2023
GJB14Jul 18, 2023
GJB210Jul 18, 2023
GJB61Jul 18, 2023
GJC22Sep 4, 2022
GJD2-DT4Sep 4, 2022
GLA26Jul 2, 2024
GLB13Jan 11, 2022
GLDC5Jul 18, 2023
GLI11Jan 11, 2022
GLI21Sep 4, 2022
GLI36Sep 4, 2022
GLRA11May 28, 2022
GLRA22Sep 4, 2022
GLS1Mar 25, 2022
GML6Mar 9, 2023
GMPPB3Mar 9, 2023
GNAI31Jan 11, 2022
GNAO15Jan 11, 2022
GNAS14Jul 18, 2023
GNB16Jul 18, 2023
GNB22May 28, 2022
GNB41Mar 9, 2023
GNE3Mar 9, 2023
GNPTAB4Mar 9, 2023
GNPTG2Mar 9, 2023
GP1BB2Sep 4, 2022
GPAA11Mar 25, 2022
GPC31Jan 11, 2022
GPD12Jul 18, 2023
GPHN6Jul 18, 2023
GPI2Jul 18, 2023
GPIHBP14Sep 4, 2022
GPLD11Mar 9, 2023
GPR1432May 28, 2022
GPR1792Sep 4, 2022
GPSM21Jan 11, 2022
GPT21Jul 18, 2023
GPX41Mar 9, 2023
GREB1L3Sep 4, 2022
GRIA11Mar 9, 2023
GRIA21Nov 5, 2021
GRIA31Mar 9, 2023
GRIK21Mar 9, 2023
GRIN13Mar 9, 2023
GRIN2A5Jul 18, 2023
GRIN2B8Jul 18, 2023
GRIN2D1Mar 25, 2022
GRM11Jul 18, 2023
GRM61Jan 11, 2022
GSDME1Mar 25, 2022
GSN1Apr 16, 2022
GSTZ11Mar 9, 2023
GTF3C2-AS21Mar 9, 2023
GTPBP21Jan 11, 2022
GUCA1A1Sep 4, 2022
GUCA1ANB-GUCA1A1Sep 4, 2022
GUCY2C3Mar 25, 2022
GUCY2D8Sep 4, 2022
GYS25Mar 9, 2023
GZF12May 28, 2022
H1-42Mar 9, 2023
H3-3A2Jul 18, 2023
H3-3B1May 28, 2022
HADHB1Jul 18, 2023
HAL1Mar 9, 2023
HARS11Sep 4, 2022
HAX11Jan 11, 2022
HBA12Jul 18, 2023
HBA23May 28, 2022
HBB12Jul 18, 2023
HDAC83Jan 11, 2022
HECW21Nov 5, 2021
HERC21Mar 9, 2023
HES71Sep 4, 2022
HESX11Mar 9, 2023
HEXA4Sep 4, 2022
HEXB2Mar 25, 2022
HGD1Jul 18, 2023
HGSNAT1Jan 11, 2022
HIBCH1Mar 9, 2023
HINT12Mar 9, 2023
HIVEP21Jan 11, 2022
HK14Mar 9, 2023
HMBS2Mar 9, 2023
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IGF1R4Mar 9, 2023
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IGSF11May 28, 2022
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ILDR13Sep 4, 2022
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IQSEC23Mar 9, 2023
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KCNH22May 28, 2022
KCNJ13Jul 18, 2023
KCNJ111Mar 25, 2022
KCNJ21May 28, 2022
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KCNN31Jul 18, 2023
KCNN41Jan 11, 2022
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KCNQ214Jul 18, 2023
KCNQ31Nov 5, 2021
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KRIT13Jan 11, 2022
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KRT145Mar 25, 2022
KRT52Mar 9, 2023
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LAMB24Jan 11, 2022
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LDLR12Mar 9, 2023
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LGI42Mar 9, 2023
LHX31Mar 9, 2023
LHX42Sep 4, 2022
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LOXHD15Mar 25, 2022
LPIN11Mar 9, 2023
LPL6Jul 18, 2023
LRAT1May 28, 2022
LRBA7Jul 18, 2023
LRP11Nov 7, 2021
LRP21Mar 25, 2022
LRP511Jul 18, 2023
LRPAP11Mar 25, 2022
LRRC37A21Nov 7, 2021
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LRRC562Jan 11, 2022
LRRK21May 28, 2022
LRTOMT5Sep 4, 2022
LTBP12Nov 5, 2021
LTBP22Jul 18, 2023
LTBP32Sep 4, 2022
LTBP42Jan 11, 2022
LURAP1L-AS11May 28, 2022
LYRM71May 28, 2022
LYST2Mar 9, 2023
LZTFL11Jan 11, 2022
LZTR12Mar 9, 2023
MAF1Nov 5, 2021
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MAGI21May 28, 2022
MAGT11Jul 18, 2023
MALT11Mar 25, 2022
MAN2B12Jul 18, 2023
MAN2C13Mar 9, 2023
MANBA1May 28, 2022
MAP1B3Mar 9, 2023
MAP2K13Jul 18, 2023
MAP2K22Mar 9, 2023
MAP3K71Nov 5, 2021
MAPK8IP32Jul 18, 2023
MAPKBP11Mar 25, 2022
MAPRE23Sep 4, 2022
MARVELD22Jul 18, 2023
MAST11Nov 5, 2021
MBD51Sep 4, 2022
MBOAT73Mar 25, 2022
MBTPS21Jan 11, 2022
MC1R3May 28, 2022
MC4R2Sep 4, 2022
MCCC21Mar 25, 2022
MCPH14Sep 4, 2022
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MDM41Jan 11, 2022
MEA13Sep 4, 2022
MECP215Jul 18, 2023
MED128Mar 9, 2023
MED12L1Sep 4, 2022
MED132Mar 9, 2023
MED13L11Mar 9, 2023
MED231Jan 11, 2022
MEF2C3Sep 4, 2022
MEFV8Mar 9, 2023
MEIS21May 28, 2022
MERTK2Jan 11, 2022
MFAP51Jan 11, 2022
MFF-DT12Jul 18, 2023
MFN210Jul 18, 2023
MFRP1Jan 11, 2022
MFSD81May 28, 2022
MHRT1Mar 25, 2022
MID11Jan 11, 2022
MINK11Mar 9, 2023
MIPEP1Mar 9, 2023
MIR4713HG1Sep 4, 2022
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MIR97181May 28, 2022
MITF6Sep 4, 2022
MKKS1Jan 11, 2022
MKS13Mar 9, 2023
MLC14Sep 4, 2022
MLH11Mar 25, 2022
MMACHC4Mar 9, 2023
MME2Mar 9, 2023
MMP131May 28, 2022
MMP201Mar 9, 2023
MMP20-AS11Mar 9, 2023
MMUT4Mar 9, 2023
MN13Jul 18, 2023
MOCS21Mar 25, 2022
MORC23Mar 9, 2023
MPDU11Jan 11, 2022
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MPI2Sep 4, 2022
MPIG6B3Sep 4, 2022
MPL3Sep 4, 2022
MPV173Mar 9, 2023
MPZ6Mar 9, 2023
MPZL23Sep 4, 2022
MRAP1May 28, 2022
MRAS1Mar 9, 2023
MSL32Sep 4, 2022
MSTO14Jul 18, 2023
MT-ND51Jul 18, 2023
MT-TL11Apr 21, 2023
MTHFR5Mar 9, 2023
MTM13Jul 18, 2023
MTOR4Mar 9, 2023
MTRR2Mar 9, 2023
MTSS21Mar 9, 2023
MTTP1May 28, 2022
MVP-DT4Mar 9, 2023
MYBPC11Jan 11, 2022
MYBPC348Mar 9, 2023
MYCBP21Nov 7, 2021
MYCN1Sep 4, 2022
MYH111May 28, 2022
MYH21Jul 18, 2023
MYH33Jul 18, 2023
MYH61Mar 9, 2023
MYH739Jul 18, 2023
MYH96Mar 9, 2023
MYHAS1Jul 18, 2023
MYL22May 28, 2022
MYL33Jan 11, 2022
MYLK21Nov 7, 2021
MYO15A18Jul 18, 2023
MYO18B2Nov 5, 2021
MYO3A1May 28, 2022
MYO5B2Sep 4, 2022
MYO63May 28, 2022
MYO7A14Mar 9, 2023
MYOC1May 28, 2022
MYORG4Jul 18, 2023
MYPN1Mar 25, 2022
MYRF2May 28, 2022
MYT1L1Jul 18, 2023
NAA105Mar 9, 2023
NAA155Sep 4, 2022
NACC12Nov 5, 2021
NADSYN11Sep 4, 2022
NAGLU3Sep 4, 2022
NALCN8Mar 9, 2023
NANS2Jul 18, 2023
NAPB1Jul 18, 2023
NARS11Nov 5, 2021
NAXD3Mar 9, 2023
NAXE3Jan 11, 2022
NBAS2May 28, 2022
NBEA5Jul 18, 2023
NBN1Sep 4, 2022
NCDN2Jan 11, 2022
NCF11Sep 4, 2022
NDP3Jul 18, 2023
NDP-AS13Jul 18, 2023
NDRG13Mar 9, 2023
NDUFA41Mar 9, 2023
NDUFAF63Mar 9, 2023
NDUFS11Sep 4, 2022
NDUFV13Sep 4, 2022
NDUFV21Sep 4, 2022
NDUFV2-AS11Sep 4, 2022
NEB4May 28, 2022
NEFL3Mar 7, 2024
NEIL11May 28, 2022
NEK12Mar 9, 2023
NEK101Sep 4, 2022
NEK91Jul 18, 2023
NEU11Mar 9, 2023
NEURL41Jan 11, 2022
NEXMIF2Sep 4, 2022
NF180Jul 18, 2023
NF21Jul 18, 2023
NFIA3Mar 9, 2023
NFIB2Jan 11, 2022
NFIX4Mar 9, 2023
NFKB21Mar 9, 2023
NFS11Jul 18, 2023
NGLY14Mar 9, 2023
NHEJ12Sep 4, 2022
NIPBL14Jul 18, 2023
NKX2-14Mar 9, 2023
NKX2-52Sep 4, 2022
NLRC41Jul 18, 2023
NLRP11Mar 9, 2023
NLRP121May 28, 2022
NLRP31Mar 9, 2023
NME51Mar 9, 2023
NMNAT11Jan 11, 2022
NNT3Sep 4, 2022
NOD21Mar 9, 2023
NONO1Mar 25, 2022
NOS1AP1Jan 11, 2022
NOTCH24May 28, 2022
NOTCH316Jul 18, 2023
NPC15Mar 9, 2023
NPHP11Mar 9, 2023
NPHP33Jan 11, 2022
NPHP3-ACAD114Sep 4, 2022
NPHP41Sep 4, 2022
NPHS113Sep 4, 2022
NPHS25May 28, 2022
NPR26Mar 9, 2023
NPRL31Nov 5, 2021
NR0B12Jul 18, 2023
NR2E33May 28, 2022
NR2F14Nov 7, 2021
NR2F1-AS12Nov 5, 2021
NR2F21Nov 7, 2021
NR4A21Nov 7, 2021
NR5A18Jul 18, 2023
NRAS2Mar 25, 2022
NSD19May 28, 2022
NSD23May 28, 2022
NSF1Nov 7, 2021
NSRP11May 28, 2022
NSUN21Sep 4, 2022
NT5C21Mar 9, 2023
NT5C3A1May 28, 2022
NTNG21Sep 4, 2022
NTRK16Jul 18, 2023
NUP1074Sep 4, 2022
NUP1334Sep 4, 2022
NYX1Jan 11, 2022
OAT1Mar 25, 2022
OBSL15Jul 18, 2023
OCA215Sep 4, 2022
OCLN1Mar 25, 2022
OCRL4Jul 18, 2023
ODAD21Mar 25, 2022
ODAD31Mar 9, 2023
OFD15Mar 9, 2023
OGDHL1Jul 18, 2023
OPA14May 28, 2022
OTC1Sep 4, 2022
OTOA3Sep 4, 2022
OTOF3Jul 18, 2023
OTOG3Jan 11, 2022
OTOGL3Sep 4, 2022
OTUD51Mar 9, 2023
OTUD6B1Jan 11, 2022
OTX23May 28, 2022
OXCT11Sep 4, 2022
OXTR1Mar 25, 2022
P2RY121Sep 4, 2022
P3H12Mar 25, 2022
P3H21Jan 11, 2022
PACS11Nov 5, 2021
PACS21Sep 4, 2022
PAFAH1B14Mar 25, 2022
PAH29Mar 9, 2023
PANK23Mar 9, 2023
PAPSS21Jan 11, 2022
PAX212Apr 21, 2024
PAX31May 28, 2022
PAX61Mar 9, 2023
PBX11Sep 4, 2022
PC1Sep 4, 2022
PCARE3Mar 9, 2023
PCCA2Sep 4, 2022
PCCB6Mar 9, 2023
PCDH153May 28, 2022
PCDH194May 28, 2022
PCK11Sep 4, 2022
PCNT1Mar 25, 2022
PCSK12Jan 11, 2022
PCSK91Jul 18, 2023
PDCD101Jan 11, 2022
PDE4D1Mar 9, 2023
PDE6B3May 28, 2022
PDE6C6Jul 18, 2023
PDGFRB1Jan 11, 2022
PDHA19Jul 18, 2023
PDHX1Mar 9, 2023
PDZD71Sep 4, 2022
PDZD92Mar 9, 2023
PEX121May 28, 2022
PEX262Sep 4, 2022
PEX52Nov 5, 2021
PEX62Jul 18, 2023
PGAP34Sep 4, 2022
PHEX10Sep 4, 2022
PHEX-AS12May 28, 2022
PHF21A3Mar 25, 2022
PHF31Jan 11, 2022
PHF61Nov 5, 2021
PHIP4Sep 4, 2022
PHKA24Mar 9, 2023
PHKB3May 28, 2022
PHKG23Sep 4, 2022
PHOX2B1Jan 11, 2022
PI4KA2Sep 4, 2022
PIBF12May 28, 2022
PIDD11Jan 11, 2022
PIEZO11Mar 9, 2023
PIEZO27Jul 18, 2023
PIGA2Mar 9, 2023
PIGG1Mar 9, 2023
PIGL3May 28, 2022
PIGN1May 28, 2022
PIGT3Nov 5, 2021
PIK3CA9Mar 9, 2023
PIK3CD1Mar 25, 2022
PIK3R13May 28, 2022
PIK3R23Sep 4, 2022
PIRC661Sep 4, 2022
PJVK1Jul 18, 2023
PKD127Jul 18, 2023
PKD1-AS12May 28, 2022
PKD26Mar 9, 2023
PKHD114Jul 18, 2023
PKLR13Mar 9, 2023
PKP21Jan 11, 2022
PLA2G610Mar 9, 2023
PLAA2Jan 11, 2022
PLAG11May 28, 2022
PLCB42May 28, 2022
PLCD11Jan 11, 2022
PLCE11May 28, 2022
PLD31Sep 4, 2022
PLEC2Jul 18, 2023
PLEKHG51Jan 11, 2022
PLOD21Sep 4, 2022
PLP12Jul 18, 2023
PLPBP1Mar 9, 2023
PLS11Jan 11, 2022
PLS32May 28, 2022
PMM213Jul 18, 2023
PMP21Jan 11, 2022
PMP223Mar 9, 2023
PMPCA2Jul 18, 2023
PNPLA12Sep 4, 2022
PNPLA64Sep 4, 2022
PNPT13Jul 18, 2023
POGZ6Mar 9, 2023
POLA11Mar 9, 2023
POLE2May 28, 2022
POLG8Mar 9, 2023
POLGARF8Mar 9, 2023
POLH1Jan 11, 2022
POLR1B2Mar 9, 2023
POLR1C4May 28, 2022
POLR1D2Mar 9, 2023
POLR2A3May 28, 2022
POLR2F4Mar 9, 2023
POLR3A6Jul 18, 2023
POLR3B1Sep 4, 2022
POMGNT13Jan 11, 2022
POMT11Jan 11, 2022
POMT23May 28, 2022
POU1F12May 28, 2022
POU3F34Jul 18, 2023
POU4F33Sep 4, 2022
PPM1D2Sep 4, 2022
PPP1CB1Nov 5, 2021
PPP1R15B1May 28, 2022
PPP1R212Jul 18, 2023
PPP2CA1Sep 4, 2022
PPP2R1A2Jan 11, 2022
PPP2R5D3Sep 4, 2022
PPP3CA3Mar 9, 2023
PPT15Jul 18, 2023
PQBP12Jan 11, 2022
PRDX32Sep 4, 2022
PREPL3Mar 9, 2023
PRF13Jul 18, 2023
PRG43Mar 25, 2022
PRKACA1Mar 25, 2022
PRKACB1May 28, 2022
PRKAG21Jan 11, 2022
PRKAR1A1Jul 18, 2023
PRKAR1B1Mar 25, 2022
PRKCG2Sep 4, 2022
PRKN1May 28, 2022
PRKRA2Mar 9, 2023
PRLR1Mar 25, 2022
PRMT71May 28, 2022
PRNP3Sep 4, 2022
PROC1Mar 9, 2023
PRODH1May 28, 2022
PROKR21May 28, 2022
PROM14Mar 25, 2022
PROP13Sep 4, 2022
PRORP1Sep 4, 2022
PRORP-PSMA61Sep 4, 2022
PROS11Mar 25, 2022
PRPH1Jan 11, 2022
PRPH23May 28, 2022
PRPS11Jun 22, 2023
PRR124Sep 4, 2022
PRRT24Mar 9, 2023
PRSS11Jul 18, 2023
PRSS233May 28, 2022
PRSS563Jan 11, 2022
PRX2May 28, 2022
PSAP1Mar 9, 2023
PSAT11Jan 11, 2022
PSEN13Sep 4, 2022
PSORS1C11Mar 9, 2023
PTCH17Jul 18, 2023
PTCHD11Jan 11, 2022
PTCHD1-AS4Sep 4, 2022
PTEN9Mar 9, 2023
PTPN1128Jul 18, 2023
PTPN234Jan 11, 2022
PTPRA1May 28, 2022
PTS1Mar 9, 2023
PUF601Nov 5, 2021
PURA6Jul 18, 2023
PUS12Sep 4, 2022
PXDN1Jan 11, 2022
PYCR14Jul 18, 2023
PYCR22Mar 9, 2023
PYGL5Sep 4, 2022
QRSL11Mar 9, 2023
RAB27A1Mar 9, 2023
RAB33A3Mar 9, 2023
RAB3GAP13Mar 9, 2023
RAB7A1Mar 9, 2023
RAB9B2Jul 18, 2023
RAC11Jan 11, 2022
RAC21Jan 11, 2022
RAC31May 28, 2022
RAF14Sep 4, 2022
RAG16Sep 4, 2022
RAG21Sep 4, 2022
RAI12Jul 18, 2023
RALA3Mar 9, 2023
RALGAPA11Jan 11, 2022
RANBP22Jan 11, 2022
RARB1Sep 4, 2022
RARS13Mar 9, 2023
RBBP81Jan 11, 2022
RBL21Jan 11, 2022
RBM101Jan 11, 2022
RBM201Mar 25, 2022
RBP32Jan 11, 2022
RCBTB11May 28, 2022
RDH126Jul 18, 2023
RDH52May 28, 2022
RDX1Jan 11, 2022
RECQL41May 28, 2022
RELA1May 28, 2022
RERE2Sep 4, 2022
RFT12Jul 18, 2023
RFXANK1May 28, 2022
RFXAP1Mar 9, 2023
RHO5May 28, 2022
RHOBTB23Sep 4, 2022
RIF11Jan 11, 2022
RIPK12Jul 18, 2023
RIT17Mar 9, 2023
RLBP14Mar 9, 2023
RLIM2Mar 9, 2023
RMRP4Sep 4, 2022
RNASEH2A4Sep 4, 2022
RNASEH2B1Mar 25, 2022
RNASEH2C2Mar 25, 2022
RNF131Dec 18, 2022
RNF1703Mar 25, 2022
RNF21Sep 5, 2023
RNF2132Mar 9, 2023
RNF213-AS12Mar 9, 2023
RNF2161Mar 9, 2023
ROBO11Mar 9, 2023
ROBO41Jan 11, 2022
ROR21Jul 18, 2023
RORA1Nov 7, 2021
RORA-AS11Nov 7, 2021
RORB2May 28, 2022
RP13May 28, 2022
RP1L11Jan 11, 2022
RP21Sep 4, 2022
RPE657Sep 4, 2022
RPGR7Sep 4, 2022
RPGRIP14May 28, 2022
RPL112Mar 9, 2023
RPL132Mar 25, 2022
RPL36A-HNRNPH226Jul 2, 2024
RPL54Sep 4, 2022
RPS193Mar 9, 2023
RPS6KA33Mar 9, 2023
RRAS21Mar 9, 2023
RRM11Mar 9, 2023
RRM2B2Mar 9, 2023
RS110Mar 9, 2023
RSPH31Mar 25, 2022
RTEL14Jan 11, 2022
RTEL1-TNFRSF6B4Jan 11, 2022
RTTN2Jan 11, 2022
RUNX23Mar 9, 2023
RYR110Mar 9, 2023
RYR21Mar 9, 2023
SACS14Jul 18, 2023
SAG2Jan 11, 2022
SALL12Sep 4, 2022
SAMD9L2Sep 4, 2022
SARM11May 28, 2022
SASH11Mar 9, 2023
SATB12Jan 11, 2022
SATB28Mar 9, 2023
SC5D1Jan 11, 2022
SCAMP51Nov 7, 2021
SCARF21Mar 25, 2022
SCN11A1Jan 11, 2022
SCN1A23Jul 18, 2023
SCN1B1May 28, 2022
SCN2A13Jul 18, 2023
SCN3A5Sep 4, 2022
SCN4A5Jul 18, 2023
SCN5A1Sep 4, 2022
SCN8A12Mar 9, 2023
SCNN1A2Jul 18, 2023
SCO21Sep 4, 2022
SCYL12Mar 9, 2023
SDCCAG81May 28, 2022
SDHA2Mar 9, 2023
SDHB2Jul 18, 2023
SDHD2Jan 11, 2022
SEC23A1Mar 9, 2023
SEC23B2Sep 4, 2022
SELENON2Mar 9, 2023
SEMA6B1Mar 25, 2022
SEPT5-GP1BB2Sep 4, 2022
SERAC11Sep 4, 2022
SERPINB73Jan 11, 2022
SERPINC11Jan 11, 2022
SERPINF13May 28, 2022
SETBP15Jul 18, 2023
SETD1A3Jul 18, 2023
SETD1B4Sep 4, 2022
SETD22Mar 9, 2023
SETD52Mar 9, 2023
SETX2Mar 25, 2022
SFTA34Mar 9, 2023
SFTPA11Sep 4, 2022
SFTPC3Sep 4, 2022
SGCA2Jul 18, 2023
SGCB2Mar 9, 2023
SGCE4Jul 18, 2023
SGCG1May 28, 2022
SH2D1A1Mar 9, 2023
SH3TC27Mar 9, 2023
SHANK21Nov 5, 2021
SHANK32Sep 4, 2022
SHOC21Nov 5, 2021
SHOX2Jan 11, 2022
SHROOM41Nov 7, 2021
SIL11Mar 9, 2023
SIN3A2Jul 18, 2023
SIPA1L31May 28, 2022
SIX13Sep 4, 2022
SKIC32May 28, 2022
SLC10A13Mar 9, 2023
SLC10A22Sep 4, 2022
SLC12A17Mar 9, 2023
SLC12A312Jul 18, 2023
SLC12A51Sep 4, 2022
SLC16A11Sep 4, 2022
SLC16A1-AS11Sep 4, 2022
SLC16A24May 28, 2022
SLC18A31Jan 11, 2022
SLC19A31Jan 11, 2022
SLC1A21Mar 9, 2023
SLC20A21Sep 4, 2022
SLC22A122May 28, 2022
SLC24A12Jan 11, 2022
SLC25A211May 28, 2022
SLC25A221Sep 4, 2022
SLC25A381Jul 18, 2023
SLC25A41Sep 4, 2022
SLC26A34Jul 18, 2023
SLC26A417Mar 9, 2023
SLC29A33May 28, 2022
SLC2A15Sep 4, 2022
SLC2A24Jul 18, 2023
SLC30A101Sep 4, 2022
SLC30A71Mar 9, 2023
SLC30A92Jan 11, 2022
SLC34A14Mar 9, 2023
SLC34A32Sep 4, 2022
SLC35D2-HSD17B33Jul 18, 2023
SLC37A42Mar 9, 2023
SLC38A31Mar 9, 2023
SLC3A16Jul 18, 2023
SLC44A11Sep 4, 2022
SLC45A21Sep 4, 2022
SLC46A11May 28, 2022
SLC4A16Jul 18, 2023
SLC4A112Jan 11, 2022
SLC4A41Mar 9, 2023
SLC5A13May 28, 2022
SLC5A21Sep 4, 2022
SLC5A51Mar 9, 2023
SLC6A14Mar 9, 2023
SLC6A191Mar 25, 2022
SLC7A71Nov 5, 2021
SLC7A92May 28, 2022
SLC9A61Nov 5, 2021
SLCO1B12Jul 18, 2023
SLCO1B31Jul 18, 2023
SLCO1B3-SLCO1B71Jul 18, 2023
SLCO2A13Mar 25, 2022
SMAD43Jan 11, 2022
SMAD62Mar 9, 2023
SMARCA26Mar 9, 2023
SMARCA44Mar 9, 2023
SMARCB12May 28, 2022
SMARCC11Nov 7, 2021
SMC1A6May 28, 2022
SMC34Jul 18, 2023
SMO1Jan 11, 2022
SMPD17Jul 18, 2023
SMS2Mar 9, 2023
SNAP252Mar 25, 2022
SNCA1Sep 4, 2022
SNHG145Mar 9, 2023
SNRNP2001May 28, 2022
SNRPE1Jul 18, 2023
SOD12Jul 18, 2023
SON4Jul 18, 2023
SORD2Mar 9, 2023
SOS19Mar 9, 2023
SOST1Sep 4, 2022
SOX104Mar 9, 2023
SOX112Sep 4, 2022
SOX21Nov 5, 2021
SOX2-OT1Nov 5, 2021
SOX41Mar 25, 2022
SOX51Mar 9, 2023
SOX61Sep 4, 2022
SOX91Jan 11, 2022
SPAG81Sep 4, 2022
SPART2May 28, 2022
SPAST8Mar 9, 2023
SPATA222Sep 4, 2022
SPEG1Jul 18, 2023
SPEN2Jan 11, 2022
SPG117Mar 9, 2023
SPG711Jul 18, 2023
SPINK11Sep 4, 2022
SPINK54Jul 18, 2023
SPINT21Mar 25, 2022
SPR1May 28, 2022
SPRED13Jul 18, 2023
SPTA14Mar 9, 2023
SPTAN11Nov 7, 2021
SPTB6Mar 9, 2023
SPTBN16Mar 9, 2023
SPTBN25Mar 9, 2023
SQSTM11May 28, 2022
SRCAP5Mar 9, 2023
SRD5A21May 28, 2022
SREBF11Mar 9, 2023
SSBP11May 28, 2022
ST3GAL51Mar 9, 2023
STAC31Jan 11, 2022
STAG11Nov 5, 2021
STAMBP1Jan 11, 2022
STAR2Sep 4, 2022
STAT14May 28, 2022
STAT35Jul 18, 2023
STAT5B1Mar 9, 2023
STIL2Sep 4, 2022
STK41Mar 9, 2023
STRADA1May 28, 2022
STRC1May 28, 2022
STUB14May 28, 2022
STX1B1May 28, 2022
STXBP19Mar 9, 2023
STXBP22Jul 18, 2023
SUCLA22Mar 9, 2023
SUCLG11May 28, 2022
SUMF11Sep 4, 2022
SUPT16H1Mar 9, 2023
SURF17Mar 9, 2023
SUZ122Sep 4, 2022
SYK1May 28, 2022
SYN31May 28, 2022
SYNCRIP1May 11, 2023
SYNE11Sep 4, 2022
SYNGAP19Jul 18, 2023
SYNGAP1-AS17Jul 18, 2023
SYP1Sep 4, 2022
SYT13Sep 4, 2022
SYT21Mar 9, 2023
SZT21Jan 11, 2022
TAB22Jul 18, 2023
TACO11Jan 11, 2022
TAF11Jul 18, 2023
TAF42May 28, 2022
TALDO11Jul 18, 2023
TANC21Apr 21, 2023
TANGO21Mar 9, 2023
TAOK12Jan 11, 2022
TAP11Jul 18, 2023
TARID1May 28, 2022
TBC1D242Jan 11, 2022
TBCD1Mar 25, 2022
TBCE3May 28, 2022
TBCEL-TECTA9Sep 4, 2022
TBCK2May 28, 2022
TBK11Sep 4, 2022
TBL1XR14Mar 9, 2023
TBL1XR1-AS11Mar 9, 2023
TBR11Nov 7, 2021
TBX191May 28, 2022
TBX21May 28, 2022
TBX31Mar 9, 2023
TBX52Mar 9, 2023
TBX62Sep 4, 2022
TCAP1May 28, 2022
TCF122Sep 4, 2022
TCF203May 28, 2022
TCF45Jul 18, 2023
TCIRG18Mar 9, 2023
TCN21Mar 9, 2023
TCOF119Mar 9, 2023
TECTA9Sep 4, 2022
TEK8May 28, 2022
TERT1Mar 25, 2022
TET32Jul 18, 2023
TFAP2A1Jul 18, 2023
TFAP2B1Jul 18, 2023
TFE36Mar 9, 2023
TG1Jan 11, 2022
TGFB23Jul 18, 2023
TGFB32Sep 4, 2022
TGFBI2Jan 11, 2022
TGFBR12Jan 11, 2022
TGFBR22Mar 9, 2023
TGM17Mar 25, 2022
TGM61Jan 11, 2022
TH6Jul 18, 2023
THRB1Sep 4, 2022
THSD11Mar 9, 2023
TIMP31May 28, 2022
TINF21Sep 4, 2022
TJP21Sep 4, 2022
TK22Mar 9, 2023
TLK25Jul 18, 2023
TMC16Sep 4, 2022
TMC81Mar 9, 2023
TMEM1471Mar 9, 2023
TMEM151A1Mar 9, 2023
TMEM2371Jan 11, 2022
TMEM431Mar 9, 2023
TMEM674Jul 18, 2023
TMEM942Nov 7, 2021
TMPRSS36Jul 18, 2023
TMPRSS92Nov 7, 2021
TMX2-CTNND11Jan 11, 2022
TNFAIP31Sep 4, 2022
TNFRSF11A1Mar 9, 2023
TNFRSF13B4Jul 18, 2023
TNFSF111Mar 25, 2022
TNNC13Mar 9, 2023
TNNI38Jul 18, 2023
TNNT26Mar 9, 2023
TNPO23Jan 11, 2022
TNRC6B1Jul 18, 2023
TNXB2May 28, 2022
TOE12May 28, 2022
TOMM701Jan 11, 2022
TOMT4Sep 4, 2022
TOP3A1Sep 4, 2022
TOPORS1Jul 18, 2023
TOR1A1Nov 5, 2021
TP533Mar 9, 2023
TP635Mar 9, 2023
TPI11Mar 25, 2022
TPM13Mar 9, 2023
TPM22Jul 18, 2023
TPO8Mar 9, 2023
TPP11Sep 4, 2022
TRAF71Nov 5, 2021
TRAPPC21Jan 11, 2022
TRAPPC2L2Jul 18, 2023
TRB1Jul 18, 2023
TREX13Mar 9, 2023
TRIM142Jul 18, 2023
TRIM371Sep 4, 2022
TRIM81Mar 25, 2022
TRIO6Jul 18, 2023
TRIOBP3Mar 25, 2022
TRIP121Jul 18, 2023
TRIT11May 28, 2022
TRMT11Sep 4, 2022
TRMT10A1Mar 9, 2023
TROAP-AS11Jan 11, 2022
TRPC63Jul 18, 2023
TRPM11Jan 11, 2022
TRPM32Jan 11, 2022
TRPM65Jul 18, 2023
TRPS11May 28, 2022
TRPV44Jul 18, 2023
TRRAP6Mar 9, 2023
TSC17Mar 9, 2023
TSC229Jul 18, 2023
TSEN542Sep 4, 2022
TSHB1May 28, 2022
TSHR3Jul 18, 2023
TSPAN13Jan 11, 2022
TSPAN127Sep 4, 2022
TSPEAR1Sep 4, 2022
TSR21Sep 4, 2022
TTC36-AS11May 28, 2022
TTN14Jul 18, 2023
TTN-AS111Jul 18, 2023
TTPA1Mar 9, 2023
TTR6Jun 28, 2024
TUBA1A2Jul 18, 2023
TUBB3Jul 18, 2023
TUBB2A1Nov 5, 2021
TUBB2B2Mar 25, 2022
TUBB35Mar 25, 2022
TUBB4A3Mar 9, 2023
TUBG13Jul 18, 2023
TULP15Mar 25, 2022
TULP31Mar 9, 2023
TUSC31Jan 11, 2022
TWIST16Jul 18, 2023
TWNK4May 28, 2022
TYMP1Sep 4, 2022
TYR7Sep 4, 2022
TYRP13May 28, 2022
UBA51Sep 4, 2022
UBE2A1Jan 11, 2022
UBE3A5Mar 9, 2023
UBE3B4Jul 18, 2023
UBE4A1Jan 11, 2022
UBTF1Mar 9, 2023
UFSP21Mar 25, 2022
UGDH2Mar 9, 2023
UGT1A4Mar 9, 2023
UGT1A14Mar 9, 2023
UGT1A104Mar 9, 2023
UGT1A34Mar 9, 2023
UGT1A44Mar 9, 2023
UGT1A54Mar 9, 2023
UGT1A64Mar 9, 2023
UGT1A74Mar 9, 2023
UGT1A84Mar 9, 2023
UGT1A94Mar 9, 2023
UMOD7Jul 18, 2023
UMPS1Jul 18, 2023
UNC13D6Mar 9, 2023
UNC801Mar 9, 2023
UNG1May 28, 2022
UQCRC22Mar 9, 2023
UROS1Jul 18, 2023
USH1C3Sep 4, 2022
USH1G2Oct 15, 2023
USH2A25Jul 18, 2023
USH2A-AS22Mar 9, 2023
USP539Sep 4, 2022
USP72Mar 25, 2022
USP9X3Jan 11, 2022
VARS24May 28, 2022
VCAN1May 28, 2022
VCAN-AS11May 28, 2022
VDR3Mar 9, 2023
VHL2Jan 11, 2022
VLDLR3Mar 9, 2023
VPS111Jul 18, 2023
VPS13A1Sep 4, 2022
VPS13B4Mar 25, 2022
VPS13D3Mar 9, 2023
VPS162Mar 9, 2023
VPS33B3Mar 25, 2022
VPS351Jul 18, 2023
VPS451Sep 4, 2022
VWA11Jul 18, 2023
VWF5Jul 18, 2023
WAC4Mar 9, 2023
WAS5Jul 18, 2023
WASHC51Mar 9, 2023
WDR111May 28, 2022
WDR191Mar 9, 2023
WDR261Sep 4, 2022
WDR371Nov 5, 2021
WDR4510Jul 18, 2023
WDR624Mar 9, 2023
WDR721Jan 11, 2022
WDR732Jul 18, 2023
WFS15Sep 4, 2022
WNT11May 28, 2022
WNT10B1Jan 11, 2022
WT13Mar 9, 2023
XDH2Mar 9, 2023
XPA4Jul 18, 2023
XPC3Jan 11, 2022
YARS22Mar 9, 2023
YY11Nov 7, 2021
ZBTB182May 28, 2022
ZBTB202Mar 9, 2023
ZBTB20-AS11Mar 9, 2023
ZBTB241Mar 25, 2022
ZBTB7A1Mar 9, 2023
ZC4H22Jul 18, 2023
ZDHHC243Sep 4, 2022
ZDHHC91Sep 4, 2022
ZEB11Mar 9, 2023
ZEB212Mar 9, 2023
ZFYVE263Mar 9, 2023
ZIC21May 28, 2022
ZMIZ11Jul 18, 2023
ZMYM23May 28, 2022
ZMYND101Sep 4, 2022
ZMYND115Mar 9, 2023
ZNF1423Sep 4, 2022
ZNF2762May 28, 2022
ZNF2925Jul 18, 2023
ZNF4231Jan 11, 2022
ZNF4541Jan 11, 2022
ZNF4621Mar 25, 2022
ZNF6272Sep 4, 2022
ZNF6991Mar 25, 2022
ZNFX11Jan 11, 2022
ZSWIM61Mar 9, 2023

Condition

NameSubmissionsLast Updated
3 beta-Hydroxysteroid dehydrogenase deficiency2May 28, 2022
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1May 28, 2022
3-hydroxy-3-methylglutaryl-CoA synthase deficiency1Mar 9, 2023
3-methylcrotonyl-CoA carboxylase 2 deficiency1Mar 25, 2022
3-methylglutaconic aciduria type 11Jan 11, 2022
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1Sep 4, 2022
3-methylglutaconic aciduria, type VIIA1Sep 4, 2022
3M syndrome 15Jul 18, 2023
3M syndrome 25Jul 18, 2023
46,XY sex reversal 111May 28, 2022
46,XY sex reversal 38Jul 18, 2023
46,XY sex reversal 71Jul 18, 2023
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency1Mar 9, 2023
8q24.3 microdeletion syndrome1Nov 5, 2021
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder6Mar 9, 2023
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome5Jul 18, 2023
ALDH18A1-related de Barsy syndrome2Sep 4, 2022
ALG1-congenital disorder of glycosylation3Sep 4, 2022
ALG11-congenital disorder of glycosylation1Sep 4, 2022
ALG3-congenital disorder of glycosylation1Mar 9, 2023
AMED syndrome, digenic1Nov 5, 2021
ANO1-related fatal neonatal disease due to impaired chloride currents1Mar 25, 2022
Aarskog syndrome4Jul 18, 2023
Abetalipoproteinaemia1May 28, 2022
Achondroplasia1Sep 4, 2022
Achromatopsia 23Sep 4, 2022
Achromatopsia 36May 28, 2022
Acrocapitofemoral dysplasia1Jul 18, 2023
Acrocephalosyndactyly type I2Mar 9, 2023
Acrodysostosis 1 with or without hormone resistance1Jul 18, 2023
Acrodysostosis 2 with or without hormone resistance1Mar 9, 2023
Acromelic frontonasal dysostosis1Mar 9, 2023
Acromesomelic dysplasia 1, Maroteaux type4Jan 11, 2022
Acromicric dysplasia1Mar 9, 2023
Acroosteolysis-keloid-like lesions-premature aging syndrome1Jan 11, 2022
Actin accumulation myopathy1Jan 11, 2022
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome2Mar 9, 2023
Acute intermittent porphyria2Mar 9, 2023
Acute myeloid leukemia1Jul 18, 2023
Acyl-CoA oxidase deficiency1May 28, 2022
Adams-Oliver syndrome 25Jul 18, 2023
Adams-Oliver syndrome 41Nov 5, 2021
Adams-Oliver syndrome 61Nov 5, 2021
Adenosine kinase deficiency1Mar 9, 2023
Adenylosuccinate lyase deficiency2Jul 18, 2023
Adrenoleukodystrophy14Jul 18, 2023
Agammaglobulinemia 2, autosomal recessive1May 28, 2022
Aicardi-Goutieres syndrome 13Mar 9, 2023
Aicardi-Goutieres syndrome 21Mar 25, 2022
Aicardi-Goutieres syndrome 31Jan 11, 2022
Aicardi-Goutieres syndrome 44Sep 4, 2022
Aicardi-Goutieres syndrome 61Sep 4, 2022
Aicardi-Goutieres syndrome 71Nov 5, 2021
Alagille syndrome due to a JAG1 point mutation9Jul 18, 2023
Alexander disease3Mar 25, 2022
Alkaptonuria1Jul 18, 2023
Allan-Herndon-Dudley syndrome4May 28, 2022
Alopecia universalis congenita1May 28, 2022
Alpha thalassemia-X-linked intellectual disability syndrome1Mar 25, 2022
Alstrom syndrome4Sep 4, 2022
Alternating hemiplegia of childhood 27Sep 4, 2022
Alzheimer disease 33Sep 4, 2022
Amelogenesis imperfecta hypomaturation type 2A21Mar 9, 2023
Amelogenesis imperfecta hypomaturation type 2A31Jan 11, 2022
Amyotrophic lateral sclerosis type 13Jul 18, 2023
Amyotrophic lateral sclerosis type 2, juvenile2Mar 9, 2023
Amyotrophic lateral sclerosis type 61Jan 11, 2022
Andersen Tawil syndrome1May 28, 2022
Androgen resistance syndrome8Jul 18, 2023
Anemia, nonspherocytic hemolytic, due to G6PD deficiency2Jul 18, 2023
Aneurysm, intracranial berry, 121Mar 9, 2023
Angelman syndrome5Mar 9, 2023
Annular epidermolytic ichthyosis1Sep 4, 2022
Anophthalmia/microphthalmia-esophageal atresia syndrome1Nov 5, 2021
Anterior segment dysgenesis 33May 28, 2022
Anterior segment dysgenesis 71Jan 11, 2022
Anterior segment dysgenesis 81Jan 11, 2022
Aortic aneurysm, familial thoracic 41May 28, 2022
Aortic aneurysm, familial thoracic 91Jan 11, 2022
Aortic valve disease 21Mar 9, 2023
Aortic valve disease 31Jan 11, 2022
Apparent mineralocorticoid excess1May 28, 2022
Arginase deficiency1Jan 11, 2022
Argininosuccinate lyase deficiency2Jul 18, 2023
Armfield syndrome1Mar 9, 2023
Aromatase deficiency1Sep 4, 2022
Arrhythmogenic right ventricular dysplasia 101Jul 18, 2023
Arrhythmogenic right ventricular dysplasia 91Jan 11, 2022
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect2Mar 9, 2023
Arthrogryposis multiplex congenita 62May 28, 2022
Arthrogryposis, Perthes disease, and upward gaze palsy1Jul 18, 2023
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development2Sep 4, 2022
Arthrogryposis, distal, type 1A1Nov 5, 2021
Arthrogryposis, distal, with impaired proprioception and touch5Jul 18, 2023
Arthrogryposis, renal dysfunction, and cholestasis 13Mar 25, 2022
Arts syndrome1Jun 22, 2023
Aspartylglucosaminuria2Mar 9, 2023
Asphyxiating thoracic dystrophy 37Jul 18, 2023
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia1Jan 11, 2022
Ataxia-hypogonadism-choroidal dystrophy syndrome2Jan 11, 2022
Ataxia-telangiectasia syndrome32Mar 9, 2023
Atelosteogenesis type I1Jan 11, 2022
Atelosteogenesis type III1Jul 18, 2023
Atrial fibrillation, familial, 31May 28, 2022
Atrial septal defect 51Mar 25, 2022
Atrophia bulborum hereditaria2Sep 4, 2022
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly2Mar 9, 2023
Au-Kline syndrome3Jul 18, 2023
Auditory neuropathy, autosomal dominant 31Mar 9, 2023
Auditory neuropathy-optic atrophy syndrome3Mar 9, 2023
Auriculocondylar syndrome 11Jan 11, 2022
Auriculocondylar syndrome 22May 28, 2022
Autism spectrum disorder due to AUTS2 deficiency2Mar 9, 2023
Autism, susceptibility to, 171Nov 5, 2021
Autism, susceptibility to, 51Nov 7, 2021
Autism, susceptibility to, X-linked 41Jan 11, 2022
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome4May 28, 2022
Autoimmune interstitial lung disease-arthritis syndrome1Mar 25, 2022
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency1Jan 11, 2022
Autoimmune lymphoproliferative syndrome type 11Sep 4, 2022
Autoimmune lymphoproliferative syndrome type 41Jul 18, 2023
Autoinflammation with arthritis and dyskeratosis1Mar 9, 2023
Autoinflammatory syndrome, familial, Behcet-like 11Sep 4, 2022
Autosomal dominant Alport syndrome3Mar 9, 2023
Autosomal dominant Charcot-Marie-Tooth disease type 2W1Sep 4, 2022
Autosomal dominant Kenny-Caffey syndrome1Sep 4, 2022
Autosomal dominant Parkinson disease 11Sep 4, 2022
Autosomal dominant Parkinson disease 81May 28, 2022
Autosomal dominant Robinow syndrome 21Nov 17, 2021
Autosomal dominant centronuclear myopathy2Jul 18, 2023
Autosomal dominant cerebellar ataxia, deafness and narcolepsy1Sep 4, 2022
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1Mar 9, 2023
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures4Jul 18, 2023
Autosomal dominant distal renal tubular acidosis1Jul 18, 2023
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome1Mar 9, 2023
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome4Jul 18, 2023
Autosomal dominant isolated somatotropin deficiency1Mar 9, 2023
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency1Mar 25, 2022
Autosomal dominant nonsyndromic hearing loss 101May 28, 2022
Autosomal dominant nonsyndromic hearing loss 112Mar 9, 2023
Autosomal dominant nonsyndromic hearing loss 124Sep 4, 2022
Autosomal dominant nonsyndromic hearing loss 131May 28, 2022
Autosomal dominant nonsyndromic hearing loss 153Sep 4, 2022
Autosomal dominant nonsyndromic hearing loss 206Mar 9, 2023
Autosomal dominant nonsyndromic hearing loss 232May 28, 2022
Autosomal dominant nonsyndromic hearing loss 361Jan 11, 2022
Autosomal dominant nonsyndromic hearing loss 3A3Sep 4, 2022
Autosomal dominant nonsyndromic hearing loss 51Mar 25, 2022
Autosomal dominant nonsyndromic hearing loss 61May 28, 2022
Autosomal dominant nonsyndromic hearing loss 691Sep 4, 2022
Autosomal dominant nonsyndromic hearing loss 72Sep 4, 2022
Autosomal dominant nonsyndromic hearing loss 91Jan 11, 2022
Autosomal dominant optic atrophy classic form3Mar 25, 2022
Autosomal dominant vitreoretinochoroidopathy2Sep 4, 2022
Autosomal recessive Alport syndrome27Jul 18, 2023
Autosomal recessive DOPA responsive dystonia6Jul 18, 2023
Autosomal recessive Parkinson disease 141Sep 4, 2022
Autosomal recessive ataxia due to ubiquinone deficiency3Jul 18, 2023
Autosomal recessive ataxia, Beauce type1Sep 4, 2022
Autosomal recessive axonal neuropathy with neuromyotonia2Mar 9, 2023
Autosomal recessive bestrophinopathy5Mar 9, 2023
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome3Mar 9, 2023
Autosomal recessive complex spastic paraplegia type 9B2Jan 11, 2022
Autosomal recessive congenital ichthyosis 17Mar 25, 2022
Autosomal recessive congenital ichthyosis 102Sep 4, 2022
Autosomal recessive congenital ichthyosis 21Mar 25, 2022
Autosomal recessive congenital ichthyosis 4A4Sep 4, 2022
Autosomal recessive congenital ichthyosis 52Mar 9, 2023
Autosomal recessive cutis laxa type 2B2Mar 25, 2022
Autosomal recessive hypophosphatemic bone disease2Sep 4, 2022
Autosomal recessive inherited pseudoxanthoma elasticum5Jul 18, 2023
Autosomal recessive juvenile Parkinson disease 21May 28, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2A12Mar 9, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2B5Jul 18, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2C1May 28, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2D2Jul 18, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2E1May 28, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2G1May 28, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2I1Mar 9, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2J4Mar 9, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2K1Jan 11, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2L4Mar 9, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2N1May 28, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2O1Jan 11, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2T3Mar 9, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2U2Mar 9, 2023
Autosomal recessive nonsyndromic hearing loss 1218Apr 21, 2024
Autosomal recessive nonsyndromic hearing loss 161May 28, 2022
Autosomal recessive nonsyndromic hearing loss 18A2Sep 4, 2022
Autosomal recessive nonsyndromic hearing loss 18B3Jan 11, 2022
Autosomal recessive nonsyndromic hearing loss 1A7Jul 18, 2023
Autosomal recessive nonsyndromic hearing loss 22May 28, 2022
Autosomal recessive nonsyndromic hearing loss 215Sep 4, 2022
Autosomal recessive nonsyndromic hearing loss 223Sep 4, 2022
Autosomal recessive nonsyndromic hearing loss 232Mar 25, 2022
Autosomal recessive nonsyndromic hearing loss 241Jan 11, 2022
Autosomal recessive nonsyndromic hearing loss 283Mar 25, 2022
Autosomal recessive nonsyndromic hearing loss 291May 28, 2022
Autosomal recessive nonsyndromic hearing loss 318Jul 18, 2023
Autosomal recessive nonsyndromic hearing loss 301May 28, 2022
Autosomal recessive nonsyndromic hearing loss 362Jul 18, 2023
Autosomal recessive nonsyndromic hearing loss 373May 28, 2022
Autosomal recessive nonsyndromic hearing loss 416Mar 9, 2023
Autosomal recessive nonsyndromic hearing loss 423Sep 4, 2022
Autosomal recessive nonsyndromic hearing loss 492Jul 18, 2023
Autosomal recessive nonsyndromic hearing loss 532May 28, 2022
Autosomal recessive nonsyndromic hearing loss 591Jul 18, 2023
Autosomal recessive nonsyndromic hearing loss 635Sep 4, 2022
Autosomal recessive nonsyndromic hearing loss 75Sep 4, 2022
Autosomal recessive nonsyndromic hearing loss 701Sep 4, 2022
Autosomal recessive nonsyndromic hearing loss 775Mar 25, 2022
Autosomal recessive nonsyndromic hearing loss 86Jul 18, 2023
Autosomal recessive nonsyndromic hearing loss 84B3Sep 4, 2022
Autosomal recessive nonsyndromic hearing loss 892May 28, 2022
Autosomal recessive nonsyndromic hearing loss 93Jul 18, 2023
Autosomal recessive osteopetrosis 18Mar 9, 2023
Autosomal recessive osteopetrosis 21Mar 25, 2022
Autosomal recessive osteopetrosis 41May 28, 2022
Autosomal recessive osteopetrosis 71Mar 9, 2023
Autosomal recessive proximal renal tubular acidosis1Mar 9, 2023
Autosomal recessive pseudohypoaldosteronism type 12Jul 18, 2023
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency2Mar 9, 2023
Autosomal recessive spastic paraplegia type 761Jan 11, 2022
Autosomal recessive spastic paraplegia type 781Jan 11, 2022
Autosomal recessive spinocerebellar ataxia 103Sep 4, 2022
Autosomal recessive spinocerebellar ataxia 131Jul 18, 2023
Autosomal recessive spinocerebellar ataxia 142Mar 9, 2023
Autosomal recessive spinocerebellar ataxia 163May 28, 2022
Autosomal recessive spinocerebellar ataxia 171Mar 25, 2022
Autosomal recessive spinocerebellar ataxia 22Jul 18, 2023
Autosomal systemic lupus erythematosus type 162Mar 9, 2023
Axenfeld-Rieger syndrome type 33May 28, 2022
Ayme-Gripp syndrome1Nov 5, 2021
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 202Sep 4, 2022
BRSK2-related disorder1May 28, 2022
Bailey-Bloch congenital myopathy1Jan 11, 2022
Baraitser-Winter syndrome 16Mar 9, 2023
Baraitser-winter syndrome 22Jan 11, 2022
Bardet-Biedl syndrome 14Sep 4, 2022
Bardet-Biedl syndrome 103Jan 11, 2022
Bardet-Biedl syndrome 142Sep 4, 2022
Bardet-Biedl syndrome 161May 28, 2022
Bardet-Biedl syndrome 171Jan 11, 2022
Bardet-Biedl syndrome 22May 28, 2022
Bardet-Biedl syndrome 52Jan 11, 2022
Bardet-Biedl syndrome 61Jan 11, 2022
Bardet-Biedl syndrome 74Sep 4, 2022
Bartter disease type 17Mar 9, 2023
Bartter disease type 23Jul 18, 2023
Bartter disease type 31Jan 11, 2022
Bartter disease type 4A1May 28, 2022
Basal ganglia calcification, idiopathic, 7, autosomal recessive4Jul 18, 2023
Basilicata-Akhtar syndrome2Sep 4, 2022
Beck-Fahrner syndrome2Jul 18, 2023
Becker muscular dystrophy1May 28, 2022
Benign familial hematuria10Jul 18, 2023
Benign hereditary chorea1Mar 9, 2023
Benign recurrent intrahepatic cholestasis type 11May 28, 2022
Bernard Soulier syndrome2Sep 4, 2022
Beta-D-mannosidosis1May 28, 2022
Beta-hydroxyisobutyryl-CoA deacylase deficiency1Mar 9, 2023
Beta-thalassemia HBB/LCRB4Jul 18, 2023
Bethlem myopathy 1A10Mar 9, 2023
Bietti crystalline corneoretinal dystrophy3Jul 18, 2023
Bifunctional peroxisomal enzyme deficiency3Sep 4, 2022
Bilateral frontoparietal polymicrogyria4Jul 18, 2023
Bile acid malabsorption, primary, 12Sep 4, 2022
Biotin-responsive basal ganglia disease1Jan 11, 2022
Biotinidase deficiency3Mar 9, 2023
Blau syndrome1Mar 9, 2023
Blepharocheilodontic syndrome 21Jan 11, 2022
Blepharophimosis - intellectual disability syndrome, MKB type2Sep 4, 2022
Blepharophimosis - intellectual disability syndrome, SBBYS type3Jul 18, 2023
Blepharophimosis, ptosis, and epicanthus inversus syndrome5Sep 4, 2022
Blepharophimosis-impaired intellectual development syndrome1Mar 25, 2022
Bloom syndrome1Jul 18, 2023
Bohring-Opitz syndrome2Sep 4, 2022
Bone marrow failure syndrome 32Sep 4, 2022
Bone marrow failure syndrome 61Jan 11, 2022
Bone mineral density quantitative trait locus 182May 28, 2022
Borjeson-Forssman-Lehmann syndrome1Nov 5, 2021
Bosch-Boonstra-Schaaf optic atrophy syndrome4Nov 7, 2021
Bothnia retinal dystrophy1Jan 11, 2022
Brachydactyly type B11Jul 18, 2023
Brachyolmia-amelogenesis imperfecta syndrome2Sep 4, 2022
Brain malformations with or without urinary tract defects1Mar 9, 2023
Brain small vessel disease 1 with or without ocular anomalies9Mar 9, 2023
Brain-lung-thyroid syndrome3Mar 9, 2023
Branchiooculofacial syndrome1Jul 18, 2023
Branchiootic syndrome 31Sep 4, 2022
Breast-ovarian cancer, familial, susceptibility to, 11Mar 9, 2023
Brody myopathy1Mar 9, 2023
Bruck syndrome 13Jul 18, 2023
Bruck syndrome 21Sep 4, 2022
Brugada syndrome 91Nov 5, 2021
Brunet-Wagner neurodevelopmental syndrome1Jan 11, 2022
Bryant-Li-Bhoj neurodevelopmental syndrome 12Jul 18, 2023
Bryant-Li-Bhoj neurodevelopmental syndrome 21May 28, 2022
CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY1Mar 9, 2023
CBL-related disorder3Jul 18, 2023
CDC42BPB-related disorder1Mar 25, 2022
CEBALID syndrome3Jul 18, 2023
CHARGE syndrome22Jul 18, 2023
CHIME syndrome3May 28, 2022
CLDN5-related neurodevelopmental disorder1Jul 18, 2023
COACH syndrome 11Sep 4, 2022
CODAS syndrome2Jan 11, 2022
COG7 congenital disorder of glycosylation1Sep 4, 2022
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome3Mar 25, 2022
Camptomelic dysplasia1Jan 11, 2022
Cardiac anomalies - developmental delay - facial dysmorphism syndrome11Mar 9, 2023
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies1May 28, 2022
Cardiac, facial, and digital anomalies with developmental delay1Nov 5, 2021
Cardiac-urogenital syndrome2May 28, 2022
Cardioacrofacial dysplasia 11Mar 25, 2022
Cardioacrofacial dysplasia 21May 28, 2022
Cardiofaciocutaneous syndrome 111May 28, 2022
Cardiofaciocutaneous syndrome 21Mar 9, 2023
Cardiofaciocutaneous syndrome 33Jul 18, 2023
Cardiofaciocutaneous syndrome 42Mar 9, 2023
Cardiomyopathy, familial hypertrophic 278Jul 18, 2023
Carnitine palmitoyl transferase 1A deficiency1Sep 4, 2022
Carnitine palmitoyl transferase II deficiency, neonatal form2Sep 4, 2022
Carnitine palmitoyl transferase II deficiency, severe infantile form2Jul 18, 2023
Cataract 1 multiple types4Mar 9, 2023
Cataract 13 with adult I phenotype1May 28, 2022
Cataract 3 multiple types1May 28, 2022
Cataract 451May 28, 2022
Cataract 5 multiple types2May 28, 2022
Cataract 6 multiple types1May 28, 2022
Catecholaminergic polymorphic ventricular tachycardia 11Mar 9, 2023
Central core myopathy4Sep 4, 2022
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 13Mar 9, 2023
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 44Mar 9, 2023
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome1May 28, 2022
Cerebellar ataxia-hypogonadism syndrome1Mar 9, 2023
Cerebellar atrophy with seizures and variable developmental delay2May 28, 2022
Cerebellar atrophy, visual impairment, and psychomotor retardation;2Nov 5, 2021
Cerebellar dysfunction with variable cognitive and behavioral abnormalities1Nov 7, 2021
Cerebellar-facial-dental syndrome3Mar 9, 2023
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 116Jul 18, 2023
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 24Sep 4, 2022
Cerebral cavernous malformation3Jan 11, 2022
Cerebral cavernous malformation 21Jan 11, 2022
Cerebral cavernous malformation 31Jan 11, 2022
Cerebrooculofacioskeletal syndrome 12Nov 5, 2021
Cerebrooculofacioskeletal syndrome 22Nov 5, 2021
Cernunnos-XLF deficiency2Sep 4, 2022
Ceroid lipofuscinosis, neuronal, 6A3Mar 25, 2022
Char syndrome1Jul 18, 2023
Charcot-Marie-Tooth disease X-linked dominant 14Jul 18, 2023
Charcot-Marie-Tooth disease axonal type 2C1Jul 18, 2023
Charcot-Marie-Tooth disease axonal type 2F1May 28, 2022
Charcot-Marie-Tooth disease axonal type 2K1Mar 25, 2022
Charcot-Marie-Tooth disease axonal type 2O2May 28, 2022
Charcot-Marie-Tooth disease axonal type 2S3Mar 9, 2023
Charcot-Marie-Tooth disease axonal type 2T2Mar 9, 2023
Charcot-Marie-Tooth disease axonal type 2X1Jan 11, 2022
Charcot-Marie-Tooth disease axonal type 2Z2Mar 9, 2023
Charcot-Marie-Tooth disease dominant intermediate D1Mar 9, 2023
Charcot-Marie-Tooth disease dominant intermediate F1Mar 9, 2023
Charcot-Marie-Tooth disease recessive intermediate A2Mar 9, 2023
Charcot-Marie-Tooth disease recessive intermediate C1Jan 11, 2022
Charcot-Marie-Tooth disease recessive intermediate D1Sep 4, 2022
Charcot-Marie-Tooth disease type 1B2Mar 9, 2023
Charcot-Marie-Tooth disease type 1F3Mar 7, 2024
Charcot-Marie-Tooth disease type 2A28Jul 18, 2023
Charcot-Marie-Tooth disease type 2B1Mar 9, 2023
Charcot-Marie-Tooth disease type 2D1Jan 11, 2022
Charcot-Marie-Tooth disease type 2J1Mar 9, 2023
Charcot-Marie-Tooth disease type 4A3Jan 11, 2022
Charcot-Marie-Tooth disease type 4C7Mar 9, 2023
Charcot-Marie-Tooth disease type 4D3Mar 9, 2023
Charcot-Marie-Tooth disease type 4F1May 28, 2022
Charcot-Marie-Tooth disease type 4J1Sep 4, 2022
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;2May 28, 2022
Charcot-Marie-Tooth disease, axonal, mitochondrial form, 11Apr 21, 2023
Charcot-Marie-Tooth disease, axonal, type 2EE1Mar 9, 2023
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive2Mar 9, 2023
Charcot-Marie-Tooth disease, demyelinating, type 1G1Jan 11, 2022
Charcot-Marie-Tooth disease, type IA1Mar 9, 2023
Charcot-marie-tooth disease, axonal, type 2DD1May 28, 2022
Charlevoix-Saguenay spastic ataxia14Jul 18, 2023
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1Mar 9, 2023
Chitayat syndrome1Mar 25, 2022
Cholestanol storage disease3Mar 9, 2023
Cholestasis, progressive familial intrahepatic, 101Sep 4, 2022
Cholestasis, progressive familial intrahepatic, 41Sep 4, 2022
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss9Sep 4, 2022
Cholestasis, progressive familial intrahepatic, 81Sep 4, 2022
Cholestasis-pigmentary retinopathy-cleft palate syndrome1Mar 9, 2023
Chondrodysplasia punctata 2 X-linked dominant1May 28, 2022
Chondrodysplasia with joint dislocations, gPAPP type1Sep 4, 2022
Chopra-Amiel-Gordon syndrome4Jul 18, 2023
Chorea-acanthocytosis1Sep 4, 2022
Choroideremia4Mar 9, 2023
Christianson syndrome1Nov 5, 2021
Chromosome 1p32-p31 deletion syndrome2May 28, 2022
Chromosome 2q32-q33 deletion syndrome8Mar 9, 2023
Chronic infantile neurological, cutaneous and articular syndrome1Mar 9, 2023
Chronic myelogenous leukemia, BCR-ABL1 positive1Mar 25, 2022
Chudley-McCullough syndrome1Jan 11, 2022
Chédiak-Higashi syndrome2Mar 9, 2023
Ciliary dyskinesia, primary, 36, X-linked1Sep 4, 2022
Ciliary dyskinesia, primary, 403Mar 25, 2022
Ciliary dyskinesia, primary, 441Sep 4, 2022
Ciliary dyskinesia, primary, 48, without situs inversus1Mar 9, 2023
Citrullinemia type I6May 28, 2022
Clark-Baraitser syndrome1Jul 18, 2023
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency19Sep 4, 2022
Classic homocystinuria5Mar 9, 2023
Cleidocranial dysostosis3Mar 9, 2023
Cobalamin C disease4Mar 9, 2023
Cockayne syndrome type 11Jan 11, 2022
Cockayne syndrome type 25Jul 18, 2023
Coffin-Lowry syndrome3Mar 9, 2023
Coffin-Siris syndrome 131Jul 18, 2023
Coffin-Siris syndrome 101Mar 25, 2022
Coffin-Siris syndrome 65Sep 4, 2022
Coffin-Siris syndrome 71Nov 7, 2021
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome1Nov 5, 2021
Cognitive impairment with or without cerebellar ataxia2Mar 28, 2022
Cohen syndrome4Mar 25, 2022
Cold-induced sweating syndrome 11Mar 25, 2022
Colorectal cancer, hereditary nonpolyposis, type 21Mar 25, 2022
Combined deficiency of sialidase AND beta galactosidase1Sep 4, 2022
Combined immunodeficiency due to DOCK8 deficiency1May 28, 2022
Combined immunodeficiency due to LRBA deficiency7Jul 18, 2023
Combined immunodeficiency due to MALT1 deficiency1Mar 25, 2022
Combined immunodeficiency due to STK4 deficiency1Mar 9, 2023
Combined immunodeficiency with skin granulomas1May 28, 2022
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 12Jul 18, 2023
Combined oxidative phosphorylation defect type 132Jul 18, 2023
Combined oxidative phosphorylation defect type 141Mar 9, 2023
Combined oxidative phosphorylation defect type 172Mar 25, 2022
Combined oxidative phosphorylation defect type 204May 28, 2022
Combined oxidative phosphorylation defect type 82May 28, 2022
Combined oxidative phosphorylation deficiency 351May 28, 2022
Combined oxidative phosphorylation deficiency 392Mar 9, 2023
Combined oxidative phosphorylation deficiency 401Mar 9, 2023
Combined oxidative phosphorylation deficiency 441Jan 11, 2022
Combined oxidative phosphorylation deficiency 521Jul 18, 2023
Combined oxidative phosphorylation deficiency 541Sep 4, 2022
Complement component C1s deficiency1Sep 4, 2022
Complex cortical dysplasia with other brain malformations 14Nov 5, 2021
Complex cortical dysplasia with other brain malformations 43Jul 18, 2023
Complex cortical dysplasia with other brain malformations 51Nov 5, 2021
Complex cortical dysplasia with other brain malformations 62Jul 18, 2023
Complex cortical dysplasia with other brain malformations 72Mar 25, 2022
Cone dystrophy 31Sep 4, 2022
Cone dystrophy 46Jul 18, 2023
Cone dystrophy with supernormal rod response2Jan 11, 2022
Cone-rod dystrophy 133May 28, 2022
Cone-rod dystrophy 161Jan 11, 2022
Cone-rod dystrophy 23Jul 18, 2023
Cone-rod dystrophy 31Mar 9, 2023
Cone-rod dystrophy 61Mar 25, 2022
Cone-rod dystrophy and hearing loss 11May 28, 2022
Congenital absence of salivary gland1Jul 18, 2023
Congenital adrenal hypoplasia, X-linked2Jul 18, 2023
Congenital afibrinogenemia1May 28, 2022
Congenital amegakaryocytic thrombocytopenia3Sep 4, 2022
Congenital anomalies of kidney and urinary tract 11Jan 11, 2022
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay1Sep 4, 2022
Congenital bilateral aplasia of vas deferens from CFTR mutation2Jul 18, 2023
Congenital bile acid synthesis defect 12May 28, 2022
Congenital bile acid synthesis defect 61May 28, 2022
Congenital central hypoventilation1Jan 11, 2022
Congenital contractural arachnodactyly4Mar 9, 2023
Congenital contractures of the limbs and face, hypotonia, and developmental delay5Mar 9, 2023
Congenital defect of folate absorption1May 28, 2022
Congenital diarrhea 61Mar 25, 2022
Congenital diarrhea 7 with exudative enteropathy1Sep 4, 2022
Congenital disorder of deglycosylation1Jan 11, 2022
Congenital disorder of deglycosylation 13Mar 9, 2023
Congenital disorder of deglycosylation 23Mar 9, 2023
Congenital disorder of glycosylation type 1E1Jan 11, 2022
Congenital disorder of glycosylation with defective fucosylation 12May 28, 2022
Congenital disorder of glycosylation with defective fucosylation 21Sep 4, 2022
Congenital dyserythropoietic anemia, type II2Sep 4, 2022
Congenital factor VII deficiency1Mar 9, 2023
Congenital generalized lipodystrophy type 11May 28, 2022
Congenital generalized lipodystrophy type 21May 28, 2022
Congenital glucose-galactose malabsorption3May 28, 2022
Congenital heart defects and skeletal malformations syndrome3Jan 11, 2022
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder6Jul 18, 2023
Congenital heart defects, multiple types, 22Jul 18, 2023
Congenital heart defects, multiple types, 41Nov 7, 2021
Congenital hereditary endothelial dystrophy of cornea2Jan 11, 2022
Congenital hyperammonemia, type I4Jan 11, 2022
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies1May 28, 2022
Congenital isolated adrenocorticotropic hormone deficiency1May 28, 2022
Congenital lipoid adrenal hyperplasia due to STAR deficency2Sep 4, 2022
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome4Sep 4, 2022
Congenital microvillous atrophy1Jan 11, 2022
Congenital multicore myopathy with external ophthalmoplegia5Mar 9, 2023
Congenital muscular dystrophy due to LMNA mutation1May 28, 2022
Congenital muscular dystrophy with cataracts and intellectual disability2Jan 11, 2022
Congenital muscular hypertrophy-cerebral syndrome5May 28, 2022
Congenital myasthenic syndrome 102Mar 9, 2023
Congenital myasthenic syndrome 124Mar 9, 2023
Congenital myasthenic syndrome 132Jan 11, 2022
Congenital myasthenic syndrome 161Jan 11, 2022
Congenital myasthenic syndrome 1A2May 28, 2022
Congenital myasthenic syndrome 211Jan 11, 2022
Congenital myasthenic syndrome 3B4Sep 4, 2022
Congenital myasthenic syndrome 4A2Jun 28, 2024
Congenital myasthenic syndrome 4B3Mar 9, 2023
Congenital myasthenic syndrome 52Mar 9, 2023
Congenital myasthenic syndrome 71Mar 9, 2023
Congenital myopathy 231Jul 18, 2023
Congenital myotonia, autosomal recessive form4Sep 4, 2022
Congenital neutropenia-myelofibrosis-nephromegaly syndrome1Sep 4, 2022
Congenital primary aphakia2May 28, 2022
Congenital reticular ichthyosiform erythroderma1Mar 9, 2023
Congenital secretory diarrhea, chloride type4Jul 18, 2023
Congenital secretory sodium diarrhea 31Mar 25, 2022
Congenital stationary night blindness 1A1Jan 11, 2022
Congenital stationary night blindness 1B1Jan 11, 2022
Congenital stationary night blindness 1C1Jan 11, 2022
Congenital stationary night blindness 1D2Jan 11, 2022
Congenital stationary night blindness 1E2Sep 4, 2022
Congenital stationary night blindness autosomal dominant 11May 28, 2022
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A3Jul 18, 2023
Cornea plana 21May 28, 2022
Corneal dystrophy, Fuchs endothelial, 61Mar 9, 2023
Cornelia de Lange syndrome 114Jul 18, 2023
Cornelia de Lange syndrome 34Jul 18, 2023
Cornelia de Lange syndrome 53Jan 11, 2022
Cortical dysplasia, complex, with other brain malformations 102Mar 9, 2023
Cortical dysplasia-focal epilepsy syndrome3Jul 18, 2023
Corticosterone methyloxidase type 2 deficiency5Mar 9, 2023
Costello syndrome2Jan 11, 2022
Cowden syndrome 14Mar 9, 2023
Craniofrontonasal syndrome1May 28, 2022
Craniolenticulosutural dysplasia1Mar 9, 2023
Craniosynostosis 41Nov 5, 2021
Craniosynostosis 71Jan 11, 2022
Crigler-Najjar syndrome type 11Mar 25, 2022
Crigler-Najjar syndrome, type II3Mar 9, 2023
Crouzon syndrome1Jul 18, 2023
Cryptosporidiosis-chronic cholangitis-liver disease syndrome1May 28, 2022
Cutaneous porphyria1Jul 18, 2023
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies2Jan 11, 2022
Cutis laxa, X-linked1Nov 5, 2021
Cutis laxa, autosomal dominant 32Mar 9, 2023
Cutis laxa, autosomal recessive, type 2E2Nov 5, 2021
Cystic fibrosis9Jul 18, 2023
Cystinuria8Jul 18, 2023
D-2-hydroxyglutaric aciduria 21Nov 5, 2021
DEGCAGS syndrome1Mar 25, 2022
DOCK1-related disorder1Jan 11, 2022
DYRK1A-related intellectual disability syndrome9Mar 9, 2023
Dalmatian hypouricemia2May 28, 2022
Danon disease1Jul 18, 2023
DeSanto-Shinawi syndrome due to WAC point mutation4Mar 9, 2023
Deafness with labyrinthine aplasia, microtia, and microdontia1Mar 25, 2022
Deafness, X-linked 51Jan 11, 2022
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase4May 28, 2022
Deficiency of acetyl-CoA acetyltransferase2Jul 18, 2023
Deficiency of alpha-mannosidase2Jul 18, 2023
Deficiency of butyryl-CoA dehydrogenase1Mar 9, 2023
Deficiency of galactokinase1Jan 11, 2022
Deficiency of hydroxymethylglutaryl-CoA lyase1Mar 9, 2023
Deficiency of iodide peroxidase8Mar 9, 2023
Deficiency of steroid 11-beta-monooxygenase9Mar 9, 2023
Deficiency of transaldolase1Jul 18, 2023
Dehydrated hereditary stomatocytosis 21Jan 11, 2022
Dejerine-Sottas disease4May 28, 2022
Dent disease type 11Mar 9, 2023
Dentinogenesis imperfecta type 22Mar 9, 2023
Dermatitis, atopic, 22Sep 4, 2022
Desbuquois dysplasia 13May 28, 2022
Desmin-related myofibrillar myopathy4Jul 18, 2023
Developmental and epileptic encephalopathy 1021Mar 9, 2023
Developmental and epileptic encephalopathy 6B1Jan 11, 2022
Developmental and epileptic encephalopathy 943Sep 4, 2022
Developmental and epileptic encephalopathy 961Nov 7, 2021
Developmental and epileptic encephalopathy 982Sep 4, 2022
Developmental and epileptic encephalopathy 993Jan 11, 2022
Developmental and epileptic encephalopathy, 12May 28, 2022
Developmental and epileptic encephalopathy, 1112Jul 18, 2023
Developmental and epileptic encephalopathy, 1310Mar 9, 2023
Developmental and epileptic encephalopathy, 144Sep 4, 2022
Developmental and epileptic encephalopathy, 162Jan 11, 2022
Developmental and epileptic encephalopathy, 173Jan 11, 2022
Developmental and epileptic encephalopathy, 181Jan 11, 2022
Developmental and epileptic encephalopathy, 28Jul 18, 2023
Developmental and epileptic encephalopathy, 231May 28, 2022
Developmental and epileptic encephalopathy, 275Jul 18, 2023
Developmental and epileptic encephalopathy, 292May 28, 2022
Developmental and epileptic encephalopathy, 31Sep 4, 2022
Developmental and epileptic encephalopathy, 311Nov 7, 2021
Developmental and epileptic encephalopathy, 322Nov 5, 2021
Developmental and epileptic encephalopathy, 341Sep 4, 2022
Developmental and epileptic encephalopathy, 352Mar 9, 2023
Developmental and epileptic encephalopathy, 371Nov 5, 2021
Developmental and epileptic encephalopathy, 49Mar 9, 2023
Developmental and epileptic encephalopathy, 411Mar 9, 2023
Developmental and epileptic encephalopathy, 4210Jul 18, 2023
Developmental and epileptic encephalopathy, 432Mar 9, 2023
Developmental and epileptic encephalopathy, 441Sep 4, 2022
Developmental and epileptic encephalopathy, 461Mar 25, 2022
Developmental and epileptic encephalopathy, 471Nov 5, 2021
Developmental and epileptic encephalopathy, 482Mar 9, 2023
Developmental and epileptic encephalopathy, 491Jan 11, 2022
Developmental and epileptic encephalopathy, 51Nov 7, 2021
Developmental and epileptic encephalopathy, 521May 28, 2022
Developmental and epileptic encephalopathy, 543Mar 9, 2023
Developmental and epileptic encephalopathy, 572Mar 9, 2023
Developmental and epileptic encephalopathy, 591Mar 9, 2023
Developmental and epileptic encephalopathy, 625Sep 4, 2022
Developmental and epileptic encephalopathy, 631Sep 4, 2022
Developmental and epileptic encephalopathy, 643Sep 4, 2022
Developmental and epileptic encephalopathy, 652Jul 18, 2023
Developmental and epileptic encephalopathy, 661Sep 4, 2022
Developmental and epileptic encephalopathy, 692Mar 9, 2023
Developmental and epileptic encephalopathy, 714Jul 18, 2023
Developmental and epileptic encephalopathy, 711Mar 25, 2022
Developmental and epileptic encephalopathy, 731Dec 18, 2022
Developmental and epileptic encephalopathy, 742Nov 5, 2021
Developmental and epileptic encephalopathy, 762May 28, 2022
Developmental and epileptic encephalopathy, 81Mar 9, 2023
Developmental and epileptic encephalopathy, 842Mar 9, 2023
Developmental and epileptic encephalopathy, 85, with or without midline brain defects1Nov 5, 2021
Developmental and epileptic encephalopathy, 871Jul 18, 2023
Developmental and epileptic encephalopathy, 94May 28, 2022
Developmental and epileptic encephalopathy-1071Jul 18, 2023
Developmental delay and seizures with or without movement abnormalities5Mar 9, 2023
Developmental delay with autism spectrum disorder and gait instability1Mar 9, 2023
Developmental delay with or without dysmorphic facies and autism6Mar 9, 2023
Developmental delay with or without intellectual impairment or behavioral abnormalities2Jan 11, 2022
Developmental delay with short stature, dysmorphic facial features, and sparse hair1May 28, 2022
Developmental delay with variable intellectual disability and dysmorphic facies1Mar 9, 2023
Developmental delay with variable intellectual impairment and behavioral abnormalities3May 28, 2022
Developmental delay with variable neurologic and brain abnormalities1May 28, 2022
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities1Jan 11, 2022
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy1Jan 11, 2022
Developmental delay, impaired speech, and behavioral abnormalities6Mar 9, 2023
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures1Jul 18, 2023
Diabetes insipidus, nephrogenic, X-linked2May 28, 2022
Diabetes insipidus, nephrogenic, autosomal4Jul 18, 2023
Diabetes mellitus, transient neonatal, 21Mar 25, 2022
Diamond-Blackfan anemia 13Mar 9, 2023
Diamond-Blackfan anemia 64Sep 4, 2022
Diamond-Blackfan anemia 72Mar 9, 2023
Diets-Jongmans syndrome1Mar 9, 2023
Dihydropyrimidinase deficiency2Jan 11, 2022
Dihydropyrimidine dehydrogenase deficiency1Jan 11, 2022
Dilated cardiomyopathy 1A3Mar 9, 2023
Dilated cardiomyopathy 1AA2Jul 15, 2024
Dilated cardiomyopathy 1D1Mar 25, 2022
Dilated cardiomyopathy 1DD1Mar 25, 2022
Dilated cardiomyopathy 1G7Mar 9, 2023
Dilated cardiomyopathy 1KK1Mar 25, 2022
Dilated cardiomyopathy 1NN1May 28, 2022
Dilated cardiomyopathy 1R1Mar 25, 2022
Dilated cardiomyopathy 1S3Jul 18, 2023
Distal arthrogryposis type 5D5Jul 18, 2023
Distal myopathy with anterior tibial onset1Sep 4, 2022
Distichiasis-lymphedema syndrome2May 28, 2022
Dominant beta-thalassemia1Jan 11, 2022
Donnai-Barrow syndrome1Mar 25, 2022
Dopa-responsive dystonia due to sepiapterin reductase deficiency1May 28, 2022
Dubin-Johnson syndrome8Mar 9, 2023
Duchenne muscular dystrophy30Jul 18, 2023
Dyggve-Melchior-Clausen syndrome2May 28, 2022
Dyschromatosis universalis hereditaria 11Mar 9, 2023
Dyskeratosis congenita, X-linked2Mar 9, 2023
Dyskeratosis congenita, autosomal dominant 21Mar 25, 2022
Dyskeratosis congenita, autosomal dominant 31Sep 4, 2022
Dyskeratosis congenita, autosomal recessive 54Jan 11, 2022
Dystonia 122Mar 9, 2023
Dystonia 162Mar 9, 2023
Dystonia 28, childhood-onset6Jul 18, 2023
Dystonia 302Mar 9, 2023
Dystonia 55Mar 9, 2023
ETS1-related disorder1Jan 11, 2022
Early-onset generalized limb-onset dystonia1Nov 5, 2021
Early-onset myopathy with fatal cardiomyopathy2Jul 18, 2023
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome1Mar 25, 2022
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant1Jan 11, 2022
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive1Jan 11, 2022
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant1Jan 11, 2022
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis1Sep 4, 2022
Ectopia lentis 1, isolated, autosomal dominant2Sep 4, 2022
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 33Mar 9, 2023
Ehlers-Danlos syndrome, arthrochalasia type2Sep 4, 2022
Ehlers-Danlos syndrome, classic type, 11May 28, 2022
Ehlers-Danlos syndrome, musculocontractural type 11Mar 9, 2023
Ehlers-Danlos syndrome, spondylodysplastic type, 21May 28, 2022
Ehlers-Danlos syndrome, type 41Jan 11, 2022
Ehlers-danlos syndrome, arthrochalasia type, 21Nov 5, 2021
Eichsfeld type congenital muscular dystrophy2Mar 9, 2023
Elliptocytosis 11Mar 9, 2023
Elliptocytosis 31May 28, 2022
Ellis-van Creveld syndrome1Jan 11, 2022
Encephalopathy due to GLUT1 deficiency5Sep 4, 2022
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 12Jul 18, 2023
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 13Jan 11, 2022
Encephalopathy, progressive, with amyotrophy and optic atrophy2Jan 11, 2022
Enhanced S-cone syndrome1Jan 11, 2022
Epidermodysplasia verruciformis, susceptibility to, 21Mar 9, 2023
Epidermolysis bullosa pruriginosa1Jan 11, 2022
Epidermolysis bullosa simplex 1A, generalized severe1Jan 11, 2022
Epidermolysis bullosa simplex 1C, localized1Jan 11, 2022
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive2Mar 25, 2022
Epidermolysis bullosa simplex 5B, with muscular dystrophy1Jul 18, 2023
Epidermolysis bullosa simplex with mottled pigmentation1Mar 9, 2023
Epidermolysis bullosa simplex, Koebner type2Jan 11, 2022
Epidermolysis bullosa simplex, Ogna type1Jul 18, 2023
Epilepsy, early-onset, vitamin B6-dependent1Mar 9, 2023
Epilepsy, early-onset, with or without developmental delay1Jan 11, 2022
Epilepsy, familial adult myoclonic, 51Mar 25, 2022
Epilepsy, familial focal, with variable foci 13Mar 9, 2023
Epilepsy, familial focal, with variable foci 31Nov 5, 2021
Epilepsy, idiopathic generalized, susceptibility to, 111Mar 25, 2022
Epilepsy, idiopathic generalized, susceptibility to, 152May 28, 2022
Epilepsy, progressive myoclonic, 111Mar 25, 2022
Epileptic encephalopathy, infantile or early childhood, 11Mar 9, 2023
Epileptic encephalopathy, infantile or early childhood, 22Jan 11, 2022
Epiphyseal dysplasia, multiple, 21Nov 5, 2021
Epiphyseal dysplasia, multiple, 31Sep 4, 2022
Epiphyseal dysplasia, multiple, 61Mar 9, 2023
Episodic ataxia type 11Nov 5, 2021
Episodic ataxia, type 91Jul 18, 2023
Episodic kinesigenic dyskinesia 11Mar 25, 2022
Erythrokeratodermia variabilis et progressiva 41Jul 18, 2023
Ethylmalonic encephalopathy1Mar 9, 2023
Euthyroid goiter2May 28, 2022
Exostoses, multiple, type 14Jul 18, 2023
Exudative vitreoretinopathy 14Sep 4, 2022
Exudative vitreoretinopathy 2, X-linked1Jul 18, 2023
Exudative vitreoretinopathy 48Jul 18, 2023
Exudative vitreoretinopathy 57Sep 4, 2022
FAT1-related disorder2Jan 11, 2022
FG syndrome 13Mar 9, 2023
FG syndrome 21Nov 7, 2021
FG syndrome 41May 28, 2022
FRYL-related disorder1Jan 11, 2022
Fabry disease26Jul 2, 2024
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome2May 28, 2022
Factor H deficiency1Sep 4, 2022
Factor I deficiency2Sep 4, 2022
Factor V deficiency3Mar 9, 2023
Factor XIII, A subunit, deficiency of2Sep 4, 2022
Familial Mediterranean fever8Mar 9, 2023
Familial X-linked hypophosphatemic vitamin D refractory rickets10Sep 4, 2022
Familial adenomatous polyposis 11Jan 11, 2022
Familial amyloid neuropathy6Jun 28, 2024
Familial cold autoinflammatory syndrome 21May 28, 2022
Familial gestational hyperthyroidism1Mar 9, 2023
Familial hemophagocytic lymphohistiocytosis 22Sep 4, 2022
Familial hemophagocytic lymphohistiocytosis 36Mar 9, 2023
Familial hemophagocytic lymphohistiocytosis 52Jul 18, 2023
Familial hyperprolactinemia1Mar 25, 2022
Familial hyperthyroidism due to mutations in TSH receptor1Jul 18, 2023
Familial hypobetalipoproteinemia 12Jul 18, 2023
Familial hypocalciuric hypercalcemia 31Mar 25, 2022
Familial hypokalemia-hypomagnesemia12Jul 18, 2023
Familial infantile myasthenia2Jan 11, 2022
Familial isolated deficiency of vitamin E1Mar 9, 2023
Familial juvenile hyperuricemic nephropathy type 17Jul 18, 2023
Familial partial lipodystrophy, Dunnigan type1Mar 9, 2023
Familial renal glucosuria1Sep 4, 2022
Familial steroid-resistant nephrotic syndrome with sensorineural deafness3Sep 4, 2022
Familial thyroid dyshormonogenesis 11Mar 9, 2023
Familial visceral amyloidosis, Ostertag type1Jan 11, 2022
Fanconi anemia complementation group A7Mar 9, 2023
Fanconi anemia complementation group B1Mar 9, 2023
Fanconi anemia complementation group D21Sep 4, 2022
Fanconi anemia complementation group G1May 28, 2022
Fanconi anemia complementation group L1Sep 4, 2022
Fanconi renotubular syndrome 22Jan 11, 2022
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young1Mar 9, 2023
Fanconi-Bickel syndrome4Jul 18, 2023
Fatty acyl-CoA reductase 1 deficiency1Jan 11, 2022
Febrile seizures, familial, 82Mar 25, 2022
Feingold syndrome type 11Sep 4, 2022
Fibrochondrogenesis 12Nov 7, 2021
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement1Mar 25, 2022
Filippi syndrome1Jul 18, 2023
Finnish congenital nephrotic syndrome13Sep 4, 2022
Finnish type amyloidosis1Apr 16, 2022
Flexion contracture1Nov 7, 2021
Floating-Harbor syndrome4Mar 9, 2023
Focal segmental glomerulosclerosis 12Jul 18, 2023
Focal segmental glomerulosclerosis 23Jul 18, 2023
Focal segmental glomerulosclerosis 3, susceptibility to1Sep 4, 2022
Focal segmental glomerulosclerosis 53Jul 18, 2023
Focal segmental glomerulosclerosis 75Apr 21, 2024
Focal segmental glomerulosclerosis and neurodevelopmental syndrome1Mar 25, 2022
Fraser syndrome 13Mar 9, 2023
Fraser syndrome 22May 28, 2022
Frontometaphyseal dysplasia 21Nov 5, 2021
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome1Jul 18, 2023
Frontotemporal dementia and/or amyotrophic lateral sclerosis 31May 28, 2022
Frontotemporal dementia and/or amyotrophic lateral sclerosis 41Sep 4, 2022
Fructose-biphosphatase deficiency3May 28, 2022
Fucosidosis1Mar 9, 2023
Fumarase deficiency4May 28, 2022
GM1 gangliosidosis type 21Nov 5, 2021
GM1 gangliosidosis type 32Jan 11, 2022
GM3 synthase deficiency1Mar 9, 2023
GNE myopathy3Mar 9, 2023
GNPTG-mucolipidosis2Mar 9, 2023
Gabriele de Vries syndrome1Nov 7, 2021
Galactosemia 41May 28, 2022
Galactosylceramide beta-galactosidase deficiency9Mar 9, 2023
Galloway-Mowat syndrome 12Jul 18, 2023
Gaucher disease type III1Jan 11, 2022
Generalized epilepsy with febrile seizures plus, type 26Mar 9, 2023
Generalized epilepsy with febrile seizures plus, type 91May 28, 2022
Genitopatellar syndrome3Jul 18, 2023
Gerstmann-Straussler-Scheinker syndrome2Sep 4, 2022
Giant axonal neuropathy 13Sep 4, 2022
Gillespie syndrome2Jul 18, 2023
Glanzmann thrombasthenia 15Mar 9, 2023
Glanzmann thrombasthenia 23Mar 9, 2023
Glaucoma 1, open angle, A1May 28, 2022
Glaucoma 3, primary congenital, E8May 28, 2022
Glaucoma 3A5May 28, 2022
Global developmental delay9Nov 7, 2021
Global developmental delay with speech and behavioral abnormalities1Jul 18, 2023
Glucocorticoid deficiency 21May 28, 2022
Glucocorticoid deficiency 43Sep 4, 2022
Glucocorticoid deficiency with achalasia3Mar 9, 2023
Glucose-6-phosphate transport defect1Jan 11, 2022
Glutamate pyruvate transaminase 2 deficiency1Jul 18, 2023
Glutaric aciduria, type 15Mar 9, 2023
Glycogen storage disease IXa14Mar 9, 2023
Glycogen storage disease IXb3May 28, 2022
Glycogen storage disease IXc3Sep 4, 2022
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA5Sep 4, 2022
Glycogen storage disease type III12Mar 9, 2023
Glycogen storage disease, type II8May 28, 2022
Glycogen storage disease, type VI5Sep 4, 2022
Glycogen storage disorder due to hepatic glycogen synthase deficiency5Mar 9, 2023
Glycosylphosphatidylinositol biosynthesis defect 151Mar 25, 2022
Goldberg-Shprintzen syndrome1May 28, 2022
Gordon syndrome2Sep 4, 2022
Gorlin syndrome6Mar 9, 2023
Granulomatous disease, chronic, X-linked1Mar 9, 2023
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 11Sep 4, 2022
Greig cephalopolysyndactyly syndrome1Sep 4, 2022
Griscelli syndrome type 21Mar 9, 2023
Groenouw corneal dystrophy type I1Jan 11, 2022
Growth delay due to insulin-like growth factor I resistance4Mar 9, 2023
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant1Mar 9, 2023
H syndrome3May 28, 2022
Hajdu-Cheney syndrome4May 28, 2022
Hamartoma of hypothalamus1Jan 11, 2022
Hao-Fountain syndrome2Mar 25, 2022
Harel-Yoon syndrome1May 28, 2022
Hartsfield-Bixler-Demyer syndrome2Mar 9, 2023
Hb SS disease1Jan 11, 2022
Hearing loss, autosomal dominant 371May 28, 2022
Hearing loss, autosomal dominant 761Jan 11, 2022
Hearing loss, autosomal dominant 802Jan 11, 2022
Hearing loss, autosomal dominant 821Sep 4, 2022
Hearing loss, autosomal dominant 841Mar 9, 2023
Hearing loss, autosomal recessive 1113Sep 4, 2022
Hearing loss, autosomal recessive 1131Sep 4, 2022
Hearing loss, autosomal recessive 1171Jan 11, 2022
Hearing loss, autosomal recessive 571Sep 4, 2022
Hemolytic anemia due to glucophosphate isomerase deficiency2Jul 18, 2023
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency1May 28, 2022
Hemolytic uremic syndrome, atypical, susceptibility to, 12May 28, 2022
Hengel-Maroofian-Schols syndrome1May 28, 2022
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 12Mar 9, 2023
Hepatorenocardiac degenerative fibrosis1Mar 9, 2023
Hereditary antithrombin deficiency1Jan 11, 2022
Hereditary diffuse leukoencephalopathy with spheroids2Jan 11, 2022
Hereditary factor IX deficiency disease5Jul 18, 2023
Hereditary factor VIII deficiency disease23Mar 9, 2023
Hereditary factor X deficiency disease1Mar 25, 2022
Hereditary factor XI deficiency disease1Sep 4, 2022
Hereditary fructosuria2Mar 9, 2023
Hereditary insensitivity to pain with anhidrosis6Jul 18, 2023
Hereditary mucoepithelial dysplasia1Mar 9, 2023
Hereditary pancreatitis1Jul 18, 2023
Hereditary sensory and autonomic neuropathy type 64Sep 4, 2022
Hereditary sensory and autonomic neuropathy type 71Jan 11, 2022
Hereditary spastic paraplegia 102Jan 11, 2022
Hereditary spastic paraplegia 116Mar 9, 2023
Hereditary spastic paraplegia 151Mar 9, 2023
Hereditary spastic paraplegia 261Mar 25, 2022
Hereditary spastic paraplegia 303Mar 9, 2023
Hereditary spastic paraplegia 352Jul 18, 2023
Hereditary spastic paraplegia 392Sep 4, 2022
Hereditary spastic paraplegia 3A3Mar 9, 2023
Hereditary spastic paraplegia 48Mar 9, 2023
Hereditary spastic paraplegia 431Jan 11, 2022
Hereditary spastic paraplegia 451Mar 9, 2023
Hereditary spastic paraplegia 461Jul 18, 2023
Hereditary spastic paraplegia 471Mar 25, 2022
Hereditary spastic paraplegia 504Jul 18, 2023
Hereditary spastic paraplegia 541Mar 9, 2023
Hereditary spastic paraplegia 562Nov 7, 2021
Hereditary spastic paraplegia 5A1Mar 9, 2023
Hereditary spastic paraplegia 711Jul 18, 2023
Hereditary spastic paraplegia 772Sep 4, 2022
Hereditary spastic paraplegia 81Mar 9, 2023
Hereditary spherocytosis type 16Mar 9, 2023
Hereditary spherocytosis type 25Mar 9, 2023
Hereditary spherocytosis type 32May 28, 2022
Hereditary spherocytosis type 41Sep 4, 2022
Hereditary xanthinuria type 12Mar 9, 2023
Hermansky-Pudlak syndrome 11Jul 18, 2023
Hermansky-Pudlak syndrome 32Mar 25, 2022
Heterotopia, periventricular, X-linked dominant1May 28, 2022
Heyn-Sproul-Jackson syndrome1Mar 9, 2023
Hiatt-Neu-Cooper neurodevelopmental syndrome3Mar 9, 2023
Hidrotic ectodermal dysplasia syndrome1Jul 18, 2023
Histidinemia1Mar 9, 2023
Histiocytic medullary reticulosis5Sep 4, 2022
Hogue-Janssens syndrome 13Sep 4, 2022
Holoprosencephaly 51May 28, 2022
Holoprosencephaly 71Jul 18, 2023
Holoprosencephaly 91Sep 4, 2022
Holt-Oram syndrome2Mar 9, 2023
Homocystinuria due to methylene tetrahydrofolate reductase deficiency5Mar 9, 2023
Houge-Janssens syndrome 22Jan 11, 2022
Houge-Janssens syndrome 31Sep 4, 2022
Huntington disease1May 28, 2022
Huntington disease-like 11Jan 11, 2022
Hurler syndrome3May 28, 2022
Hutchinson-Gilford syndrome1Sep 4, 2022
Hyaline fibromatosis syndrome1Jan 11, 2022
Hyper-IgE recurrent infection syndrome 1, autosomal dominant4Sep 4, 2022
Hyper-IgM syndrome type 12Jul 18, 2023
Hyper-IgM syndrome type 22Jul 18, 2023
Hyper-IgM syndrome type 51May 28, 2022
Hypercalcemia, infantile, 11Jan 11, 2022
Hypercalcemia, infantile, 22Mar 9, 2023
Hypercholanemia, familial, 23Mar 9, 2023
Hypercholesterolemia, autosomal dominant, 31Jul 18, 2023
Hypercholesterolemia, familial, 112Mar 9, 2023
Hyperekplexia 11May 28, 2022
Hyperinsulinemic hypoglycemia, familial, 110Jul 18, 2023
Hyperkalemic periodic paralysis2Jul 18, 2023
Hyperlipidemia, familial combined, LPL related1Jan 11, 2022
Hyperlipoproteinemia, type 1D4Sep 4, 2022
Hyperlipoproteinemia, type I5Jul 18, 2023
Hypermanganesemia with dystonia, polycythemia, and cirrhosis1Sep 4, 2022
Hyperphosphatasia with intellectual disability syndrome 44Sep 4, 2022
Hyperprolinemia type 22Mar 25, 2022
Hyperthyroxinemia, familial dysalbuminemic1Jul 18, 2023
Hypertrophic cardiomyopathy 137Jul 18, 2023
Hypertrophic cardiomyopathy 102May 28, 2022
Hypertrophic cardiomyopathy 112Sep 4, 2022
Hypertrophic cardiomyopathy 121Jan 11, 2022
Hypertrophic cardiomyopathy 133Mar 9, 2023
Hypertrophic cardiomyopathy 141Mar 9, 2023
Hypertrophic cardiomyopathy 25Mar 9, 2023
Hypertrophic cardiomyopathy 263Mar 9, 2023
Hypertrophic cardiomyopathy 33Mar 9, 2023
Hypertrophic cardiomyopathy 448Mar 9, 2023
Hypertrophic cardiomyopathy 78Jul 18, 2023
Hypertrophic cardiomyopathy 83Jan 11, 2022
Hypertrophic cardiomyopathy 91May 28, 2022
Hypertrophic osteoarthropathy, primary, autosomal recessive, 11Jul 18, 2023
Hypertrophic osteoarthropathy, primary, autosomal recessive, 23Mar 25, 2022
Hypoalphalipoproteinemia, primary, 21May 28, 2022
Hypochondroplasia5Mar 9, 2023
Hypogonadotropic hypogonadism 1 with or without anosmia1Sep 4, 2022
Hypogonadotropic hypogonadism 14 with or without anosmia1May 28, 2022
Hypogonadotropic hypogonadism 2 with or without anosmia3May 28, 2022
Hypogonadotropic hypogonadism 3 with or without anosmia1May 28, 2022
Hypohidrotic X-linked ectodermal dysplasia6Mar 9, 2023
Hypokalemic periodic paralysis, type 11Jan 18, 2024
Hypokalemic periodic paralysis, type 21Jan 11, 2022
Hypomagnesemia, seizures, and intellectual disability 21May 28, 2022
Hypomyelinating leukodystrophy 102Mar 9, 2023
Hypomyelinating leukodystrophy 121Jul 18, 2023
Hypomyelinating leukodystrophy 22Sep 4, 2022
Hypomyelinating leukodystrophy 31May 28, 2022
Hypomyelinating leukodystrophy 41Sep 4, 2022
Hypomyelinating leukodystrophy 63Mar 9, 2023
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism1Sep 4, 2022
Hypomyelinating leukodystrophy 93Mar 9, 2023
Hypomyelination and Congenital Cataract1Jan 11, 2022
Hypoparathyroidism, deafness, renal disease syndrome3Mar 9, 2023
Hypoparathyroidism, familial isolated, 22Mar 9, 2023
Hypoparathyroidism-retardation-dysmorphism syndrome1May 28, 2022
Hypophosphatemic rickets, autosomal recessive, 21May 28, 2022
Hypothyroidism due to TSH receptor mutations1May 28, 2022
Hypothyroidism, congenital, nongoitrous, 51Nov 5, 2021
Hypotonia, ataxia, and delayed development syndrome4Mar 25, 2022
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome1Jan 11, 2022
Hypotonia, infantile, with psychomotor retardation and characteristic facies 13Sep 4, 2022
Hypotonia, infantile, with psychomotor retardation and characteristic facies 21Mar 9, 2023
Hypotonia, infantile, with psychomotor retardation and characteristic facies 32May 28, 2022
Hypotrichosis 111Jul 18, 2023
Hypotrichosis 71Mar 25, 2022
IFAP syndrome 1, with or without BRESHECK syndrome1Jan 11, 2022
Ichthyosis vulgaris6Jul 18, 2023
Idiopathic basal ganglia calcification 11Sep 4, 2022
Imagawa-Matsumoto syndrome2Sep 4, 2022
Imerslund-Grasbeck syndrome type 22Sep 4, 2022
Immunodeficiency 1041Mar 9, 2023
Immunodeficiency 141Mar 25, 2022
Immunodeficiency 27A1Mar 25, 2022
Immunodeficiency 331Jan 11, 2022
Immunodeficiency 361May 28, 2022
Immunodeficiency 471Mar 9, 2023
Immunodeficiency 491Jul 18, 2023
Immunodeficiency 572Jul 18, 2023
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia1Jan 11, 2022
Immunodeficiency 812Jan 11, 2022
Immunodeficiency 82 with systemic inflammation1May 28, 2022
Immunodeficiency 951May 28, 2022
Immunodeficiency, common variable, 101Mar 9, 2023
Immunodeficiency, common variable, 24Jul 18, 2023
Immunodeficiency-centromeric instability-facial anomalies syndrome 21Mar 25, 2022
Immunoglobulin-mediated membranoproliferative glomerulonephritis1Sep 4, 2022
Inclusion body myopathy and brain white matter abnormalities1Mar 9, 2023
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 31Jan 11, 2022
Infantile cerebellar-retinal degeneration2Nov 7, 2021
Infantile convulsions and choreoathetosis2Mar 9, 2023
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome3Sep 4, 2022
Infantile liver failure syndrome 22May 28, 2022
Infantile neuroaxonal dystrophy9Mar 9, 2023
Infantile onset spinocerebellar ataxia2May 28, 2022
Inflammatory skin and bowel disease, neonatal, 11Sep 4, 2022
Intellectual developmental disorder 592May 28, 2022
Intellectual developmental disorder 60 with seizures1Nov 5, 2021
Intellectual developmental disorder 612Mar 9, 2023
Intellectual developmental disorder 623Mar 9, 2023
Intellectual developmental disorder with autism and macrocephaly2Jul 18, 2023
Intellectual developmental disorder with autistic features and language delay, with or without seizures1Apr 21, 2023
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures3Mar 25, 2022
Intellectual developmental disorder with cardiac defects and dysmorphic facies2Nov 7, 2021
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities3Mar 9, 2023
Intellectual developmental disorder with dysmorphic facies and ptosis2Jan 11, 2022
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies1Jan 11, 2022
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold2Sep 4, 2022
Intellectual developmental disorder with hypotonia and behavioral abnormalities2Mar 9, 2023
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies3Jan 11, 2022
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia1Nov 7, 2021
Intellectual developmental disorder with poor growth and with or without seizures or ataxia1Jul 18, 2023
Intellectual developmental disorder with seizures and language delay4Sep 4, 2022
Intellectual developmental disorder with severe speech and ambulation defects1Sep 4, 2022
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies3Jul 18, 2023
Intellectual developmental disorder, X-linked, syndromic, Pilorge type2Sep 4, 2022
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies6Mar 9, 2023
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly3Jul 18, 2023
Intellectual developmental disorder, autosomal dominant 645Jul 18, 2023
Intellectual developmental disorder, autosomal dominant 661Mar 9, 2023
Intellectual developmental disorder, autosomal dominant 671Mar 9, 2023
Intellectual developmental disorder, autosomal recessive 671Jan 11, 2022
Intellectual developmental disorder, autosomal recessive 681Sep 4, 2022
Intellectual developmental disorder, autosomal recessive 711Nov 5, 2021
Intellectual disability and myopathy syndrome1Sep 4, 2022
Intellectual disability, X-linked 13Mar 9, 2023
Intellectual disability, X-linked 1028Jul 18, 2023
Intellectual disability, X-linked 1042Mar 9, 2023
Intellectual disability, X-linked 211Nov 5, 2021
Intellectual disability, X-linked 412Sep 4, 2022
Intellectual disability, X-linked 495Jul 18, 2023
Intellectual disability, X-linked 612Mar 9, 2023
Intellectual disability, X-linked 961Sep 4, 2022
Intellectual disability, X-linked 991Nov 7, 2021
Intellectual disability, X-linked 99, syndromic, female-restricted2Jan 11, 2022
Intellectual disability, X-linked syndromic, Turner type6Jul 18, 2023
Intellectual disability, X-linked, syndromic 331Jul 18, 2023
Intellectual disability, X-linked, syndromic, Houge type2May 28, 2022
Intellectual disability, autosomal dominant 11Sep 4, 2022
Intellectual disability, autosomal dominant 136Jul 18, 2023
Intellectual disability, autosomal dominant 142Jul 18, 2023
Intellectual disability, autosomal dominant 152May 28, 2022
Intellectual disability, autosomal dominant 164Mar 9, 2023
Intellectual disability, autosomal dominant 203Sep 4, 2022
Intellectual disability, autosomal dominant 222May 28, 2022
Intellectual disability, autosomal dominant 241May 28, 2022
Intellectual disability, autosomal dominant 272Sep 4, 2022
Intellectual disability, autosomal dominant 293Jul 18, 2023
Intellectual disability, autosomal dominant 305Mar 9, 2023
Intellectual disability, autosomal dominant 382Jan 11, 2022
Intellectual disability, autosomal dominant 391Jul 18, 2023
Intellectual disability, autosomal dominant 403Jul 18, 2023
Intellectual disability, autosomal dominant 412Mar 9, 2023
Intellectual disability, autosomal dominant 426Jul 18, 2023
Intellectual disability, autosomal dominant 431Jan 11, 2022
Intellectual disability, autosomal dominant 451Mar 9, 2023
Intellectual disability, autosomal dominant 461Nov 7, 2021
Intellectual disability, autosomal dominant 471Nov 5, 2021
Intellectual disability, autosomal dominant 481Jan 11, 2022
Intellectual disability, autosomal dominant 59Jul 18, 2023
Intellectual disability, autosomal dominant 505Sep 4, 2022
Intellectual disability, autosomal dominant 522Mar 9, 2023
Intellectual disability, autosomal dominant 544Mar 9, 2023
Intellectual disability, autosomal dominant 564Jul 18, 2023
Intellectual disability, autosomal dominant 575Jul 18, 2023
Intellectual disability, autosomal dominant 63Mar 9, 2023
Intellectual disability, autosomal dominant 83Mar 9, 2023
Intellectual disability, autosomal dominant 95May 28, 2022
Intellectual disability, autosomal recessive 271Jan 11, 2022
Intellectual disability, autosomal recessive 51Sep 4, 2022
Intellectual disability, autosomal recessive 531Mar 9, 2023
Intellectual disability, autosomal recessive 573Mar 25, 2022
Intellectual disability, autosomal recessive 651Mar 9, 2023
Intellectual disability, autosomal recessive 661Jan 11, 2022
Intellectual disability, autosomal recessive 71Jan 11, 2022
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency2Mar 9, 2023
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome1Sep 4, 2022
Intellectual disability-hypotonic facies syndrome, X-linked, 17Mar 9, 2023
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome6Mar 9, 2023
Intellectual disability-severe speech delay-mild dysmorphism syndrome6Mar 9, 2023
Interstitial lung disease 11Sep 4, 2022
Intestinal hypomagnesemia 15Jul 18, 2023
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency2Jan 11, 2022
Iodotyrosyl coupling defect1Jan 11, 2022
Irido-corneo-trabecular dysgenesis1Mar 9, 2023
Isolated cryptophthalmia1Jan 11, 2022
Isolated growth hormone deficiency, type 41Jan 11, 2022
Isolated microphthalmia 51Jan 11, 2022
Isolated microphthalmia 63Jan 11, 2022
Isolated microphthalmia 81Jan 11, 2022
Isolated neonatal sclerosing cholangitis2Sep 4, 2022
Isolated thyroid-stimulating hormone deficiency1May 28, 2022
Isovaleryl-CoA dehydrogenase deficiency2Sep 4, 2022
Jaberi-Elahi syndrome1Jan 11, 2022
Jalili syndrome1Jan 11, 2022
Jawad syndrome1Jan 11, 2022
Jervell and Lange-Nielsen syndrome 12Jan 11, 2022
Joint laxity, short stature, and myopia2May 28, 2022
Joubert syndrome 101Mar 9, 2023
Joubert syndrome 141Jan 11, 2022
Joubert syndrome 213Sep 4, 2022
Joubert syndrome 281May 28, 2022
Joubert syndrome 33Mar 9, 2023
Joubert syndrome 332May 28, 2022
Joubert syndrome 51Jan 11, 2022
Joubert syndrome 61Jul 18, 2023
Joubert syndrome 94Jan 11, 2022
Junctional epidermolysis bullosa gravis of Herlitz1Sep 4, 2022
Junctional epidermolysis bullosa, non-Herlitz type4Sep 4, 2022
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1Jul 18, 2023
Juvenile polyposis syndrome1May 28, 2022
Juvenile retinoschisis10Mar 9, 2023
KBG syndrome18Jul 18, 2023
KINSSHIP syndrome1Mar 9, 2023
Kabuki syndrome 129Jul 18, 2023
Kabuki syndrome 22Mar 9, 2023
Ketoacidosis due to monocarboxylate transporter-1 deficiency1Sep 4, 2022
Kindler syndrome2Jan 11, 2022
King Denborough syndrome1Mar 9, 2023
Kleefstra syndrome 14Sep 4, 2022
Kleefstra syndrome 25Mar 9, 2023
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome2Nov 5, 2021
Kohlschutter-Tonz syndrome-like2Jan 11, 2022
Koolen-de Vries syndrome4Nov 2, 2022
Kostmann syndrome1Jan 11, 2022
Kufor-Rakeb syndrome1Jul 18, 2023
LAMB2-related infantile-onset nephrotic syndrome2Jan 11, 2022
LEOPARD syndrome 12Jul 18, 2023
LMBRD2-related disorder1Mar 25, 2022
Lamb-Shaffer syndrome1Mar 9, 2023
Landau-Kleffner syndrome5Jul 18, 2023
Laron-type isolated somatotropin defect2Sep 4, 2022
Larsen syndrome2Mar 9, 2023
Larsen-like syndrome, B3GAT3 type1Mar 25, 2022
Laryngo-onycho-cutaneous syndrome1Mar 25, 2022
Lathosterolosis1Jan 11, 2022
Lattice corneal dystrophy Type I1Jan 11, 2022
Leber congenital amaurosis 15Sep 4, 2022
Leber congenital amaurosis 102May 28, 2022
Leber congenital amaurosis 136Jul 18, 2023
Leber congenital amaurosis 141May 28, 2022
Leber congenital amaurosis 151Mar 25, 2022
Leber congenital amaurosis 24Sep 4, 2022
Leber congenital amaurosis 47Mar 9, 2023
Leber congenital amaurosis 61May 28, 2022
Leber congenital amaurosis 85May 28, 2022
Leber congenital amaurosis 91Jan 11, 2022
Leber hereditary optic neuropathy, autosomal recessive1Sep 4, 2022
Legius syndrome3Jul 18, 2023
Leigh syndrome4Nov 5, 2021
Leri-Weill dyschondrosteosis2Jan 11, 2022
Lesch-Nyhan syndrome1Nov 5, 2021
Lessel-Kreienkamp syndrome2Mar 9, 2023
Lethal Kniest-like syndrome2Sep 4, 2022
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome1Mar 9, 2023
Lethal multiple pterygium syndrome4May 28, 2022
Lethal occipital encephalocele-skeletal dysplasia syndrome1Jul 18, 2023
Lethal osteosclerotic bone dysplasia1Jan 11, 2022
Leucine-induced hypoglycemia1Sep 4, 2022
Leukocyte adhesion deficiency 11May 28, 2022
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1Mar 9, 2023
Leukoencephalopathy, diffuse hereditary, with spheroids 11Mar 9, 2023
Leukoencephalopathy, progressive, infantile-onset, with or without deafness1Jan 11, 2022
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome6Jul 18, 2023
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome3Mar 9, 2023
Li-Fraumeni syndrome 13Mar 9, 2023
Liang-Wang syndrome3Mar 9, 2023
Linear nevus sebaceous syndrome1Mar 25, 2022
Lipid proteinosis2May 28, 2022
Lipoprotein glomerulopathy3Jul 18, 2023
Lissencephaly 101Mar 9, 2023
Lissencephaly due to LIS1 mutation4Mar 25, 2022
Lissencephaly due to TUBA1A mutation2Jul 18, 2023
Lissencephaly type 1 due to doublecortin gene mutation4Sep 4, 2022
Loeys-Dietz syndrome 12Jan 11, 2022
Loeys-Dietz syndrome 22Mar 9, 2023
Loeys-Dietz syndrome 43Jul 18, 2023
Long QT syndrome 14Mar 9, 2023
Long QT syndrome 21Mar 25, 2022
Long QT syndrome 31Sep 4, 2022
Long QT syndrome 51Sep 4, 2022
Long qt syndrome 81May 28, 2022
Lowe syndrome4Jul 18, 2023
Lower motor neuron syndrome with late-adult onset1Mar 9, 2023
Luo-Schoch-Yamamoto syndrome1Sep 5, 2023
Luscan-Lumish syndrome2Mar 9, 2023
Lymphatic malformation 61Mar 9, 2023
Lymphoma, non-Hodgkin, familial1Jul 18, 2023
Lysinuric protein intolerance1Nov 5, 2021
Lysosomal acid lipase deficiency1Mar 9, 2023
MEND syndrome1Mar 25, 2022
MHC class I deficiency1Jul 18, 2023
MHC class II deficiency2Mar 9, 2023
MORM syndrome1Jan 11, 2022
MPDU1-congenital disorder of glycosylation1Jan 11, 2022
MPI-congenital disorder of glycosylation2Sep 4, 2022
MTSS2-related disorder1Mar 9, 2023
MYH7-related skeletal myopathy1Mar 25, 2022
Macrocephaly, acquired, with impaired intellectual development2Jan 11, 2022
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin1Mar 9, 2023
Macrocephaly-autism syndrome5Mar 9, 2023
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome4Mar 9, 2023
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss6Mar 9, 2023
Macular degeneration, X-linked atrophic1Jan 11, 2022
Malan overgrowth syndrome3Mar 9, 2023
Maleylacetoacetate isomerase deficiency1Mar 9, 2023
Mandibulofacial dysostosis-microcephaly syndrome3Jul 18, 2023
Maple syrup urine disease2Sep 4, 2022
Marbach-Schaaf neurodevelopmental syndrome1Mar 25, 2022
Marfan syndrome26Jul 18, 2023
Marinesco-Sjögren syndrome1Mar 9, 2023
Marshall syndrome2Jul 18, 2023
Marshall-Smith syndrome1Nov 5, 2021
Martsolf syndrome 21Sep 4, 2022
Maturity-onset diabetes of the young type 11Jan 11, 2022
Maturity-onset diabetes of the young type 131Mar 25, 2022
Maturity-onset diabetes of the young type 28Mar 9, 2023
Maturity-onset diabetes of the young type 33Mar 25, 2022
Maturity-onset diabetes of the young type 71Jul 2, 2024
Meckel syndrome, type 12Mar 9, 2023
Meckel syndrome, type 31Mar 9, 2023
Meckel syndrome, type 42Jan 11, 2022
Meckel syndrome, type 61Jan 11, 2022
Medium-chain acyl-coenzyme A dehydrogenase deficiency1Jan 11, 2022
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations1Nov 5, 2021
Megaconial type congenital muscular dystrophy1Jan 11, 2022
Megacystis-microcolon-intestinal hypoperistalsis syndrome 51Jul 18, 2023
Megalencephalic leukoencephalopathy with subcortical cysts 14Sep 4, 2022
Megalencephaly-capillary malformation-polymicrogyria syndrome9Mar 9, 2023
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 13Sep 4, 2022
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 22Nov 5, 2021
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency3Sep 4, 2022
Menke-Hennekam syndrome 11Jul 18, 2023
Menkes kinky-hair syndrome1Mar 25, 2022
Merosin deficient congenital muscular dystrophy11Jul 18, 2023
Metachromatic leukodystrophy8Jul 18, 2023
Metaphyseal chondrodysplasia, McKusick type4Sep 4, 2022
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome1May 28, 2022
Methemoglobinemia, alpha type1Jul 18, 2023
Methylcobalamin deficiency type cblE2Mar 9, 2023
Methylmalonic aciduria and homocystinuria type cblF1May 28, 2022
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency4Mar 9, 2023
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant3Jul 18, 2023
Microcephalic osteodysplastic primordial dwarfism type II1Mar 25, 2022
Microcephalic primordial dwarfism due to RTTN deficiency2Jan 11, 2022
Microcephalic primordial dwarfism, Alazami type1Jul 18, 2023
Microcephaly 1, primary, autosomal recessive4Sep 4, 2022
Microcephaly 17, primary, autosomal recessive1Jan 11, 2022
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations4Mar 9, 2023
Microcephaly 26, primary, autosomal dominant1Mar 9, 2023
Microcephaly 5, primary, autosomal recessive11Sep 4, 2022
Microcephaly 7, primary, autosomal recessive2Sep 4, 2022
Microcephaly 8, primary, autosomal recessive2Sep 4, 2022
Microcephaly 9, primary, autosomal recessive2Nov 5, 2021
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability8Jul 18, 2023
Microcephaly, developmental delay, and brittle hair syndrome2Jan 11, 2022
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome1Jan 11, 2022
Microcephaly, growth restriction, and increased sister chromatid exchange 21Sep 4, 2022
Microcephaly, normal intelligence and immunodeficiency1Sep 4, 2022
Microcephaly, short stature, and impaired glucose metabolism 11Mar 9, 2023
Microcephaly, short stature, and impaired glucose metabolism 21May 28, 2022
Microcephaly-capillary malformation syndrome1Jan 11, 2022
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome2May 28, 2022
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome3May 28, 2022
Microphthalmia, syndromic 121Sep 4, 2022
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma1Jul 18, 2023
Migraine, familial hemiplegic, 11Mar 25, 2022
Mitochondrial DNA deletion syndrome with progressive myopathy1Jan 11, 2022
Mitochondrial DNA depletion syndrome 11Sep 4, 2022
Mitochondrial DNA depletion syndrome 133Jul 18, 2023
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)1May 28, 2022
Mitochondrial DNA depletion syndrome 181May 28, 2022
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)1Jul 18, 2023
Mitochondrial DNA depletion syndrome 4b1Jan 11, 2022
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)2Mar 25, 2022
Mitochondrial DNA depletion syndrome 8a1Sep 4, 2022
Mitochondrial DNA depletion syndrome 91May 28, 2022
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria2Mar 9, 2023
Mitochondrial DNA depletion syndrome, myopathic form2Mar 9, 2023
Mitochondrial complex 1 deficiency, nuclear type 173Mar 9, 2023
Mitochondrial complex 1 deficiency, nuclear type 43Sep 4, 2022
Mitochondrial complex 1 deficiency, nuclear type 51Sep 4, 2022
Mitochondrial complex 1 deficiency, nuclear type 71Sep 4, 2022
Mitochondrial complex 4 deficiency, nuclear type 112Nov 5, 2021
Mitochondrial complex 4 deficiency, nuclear type 172Jan 11, 2022
Mitochondrial complex 4 deficiency, nuclear type 211Mar 9, 2023
Mitochondrial complex 4 deficiency, nuclear type 81Jan 11, 2022
Mitochondrial complex II deficiency, nuclear type 12Mar 9, 2023
Mitochondrial complex III deficiency nuclear type 52Mar 9, 2023
Mitochondrial complex III deficiency nuclear type 81May 28, 2022
Mitochondrial complex IV deficiency, nuclear type 13Mar 9, 2023
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 11May 28, 2022
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome4Jul 18, 2023
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency3Sep 4, 2022
Mitochondrial trifunctional protein deficiency1Jul 18, 2023
Miyoshi muscular dystrophy 11Jan 11, 2022
Miyoshi muscular dystrophy 31Jul 18, 2023
Monosomy 7 myelodysplasia and leukemia syndrome 11Jan 11, 2022
Mosaic variegated aneuploidy syndrome 12Nov 5, 2021
Mowat-Wilson syndrome12Mar 9, 2023
Moyamoya disease 22Mar 9, 2023
Mucocutaneous ulceration, chronic1May 28, 2022
Mucolipidosis type II3Sep 4, 2022
Mucopolysaccharidosis type 62Mar 9, 2023
Mucopolysaccharidosis, MPS-III-B3Sep 4, 2022
Mucopolysaccharidosis, MPS-IV-A8May 28, 2022
Muenke syndrome1Sep 4, 2022
Mulibrey nanism syndrome1Sep 4, 2022
Multiple acyl-CoA dehydrogenase deficiency7Mar 9, 2023
Multiple benign circumferential skin creases on limbs 11Mar 9, 2023
Multiple congenital anomalies-hypotonia-seizures syndrome 11May 28, 2022
Multiple congenital anomalies-hypotonia-seizures syndrome 21Nov 5, 2021
Multiple congenital anomalies-hypotonia-seizures syndrome 33Nov 5, 2021
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked1Mar 9, 2023
Multiple endocrine neoplasia type 41Jan 11, 2022
Multiple mitochondrial dysfunctions syndrome 21Mar 9, 2023
Multiple mitochondrial dysfunctions syndrome 31May 28, 2022
Multiple sulfatase deficiency1Sep 4, 2022
Muscular dystrophy, limb-girdle, autosomal recessive 232Mar 9, 2023
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A22May 28, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A31Jan 11, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111May 28, 2022
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B31Jan 11, 2022
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B41Jan 11, 2022
Myasthenic syndrome, congenital, 221Nov 5, 2021
Myelodysplastic syndrome1Sep 4, 2022
Myhre syndrome3Jan 11, 2022
Myoclonic dystonia 114Jul 18, 2023
Myoclonic-astatic epilepsy4Mar 9, 2023
Myoglobinuria, acute recurrent, autosomal recessive1Mar 9, 2023
Myopathy, centronuclear, 51Jul 18, 2023
Myopathy, congenital, with tremor1Jan 11, 2022
Myopathy, distal, 52Mar 25, 2022
Myopathy, lactic acidosis, and sideroblastic anemia 12Sep 4, 2022
Myopathy, lactic acidosis, and sideroblastic anemia 21Mar 9, 2023
Myopathy, proximal, and ophthalmoplegia1Jul 18, 2023
Myopia 23, autosomal recessive1Mar 25, 2022
Myopia, high, with cataract and vitreoretinal degeneration1Jan 11, 2022
NAD(P)HX dehydratase deficiency3Mar 9, 2023
NEURL4-related disorder1Jan 11, 2022
NSRP1-related disorder1May 28, 2022
Nail-patella syndrome1Jan 11, 2022
Nemaline myopathy 101Jan 11, 2022
Nemaline myopathy 22Jan 11, 2022
Nemaline myopathy 83Sep 4, 2022
Neonatal-onset encephalopathy with rigidity and seizures1Jul 18, 2023
Nephrogenic syndrome of inappropriate antidiuresis1Mar 25, 2022
Nephronophthisis 11Mar 9, 2023
Nephronophthisis 111Mar 9, 2023
Nephronophthisis 131Mar 9, 2023
Nephronophthisis 141Jan 11, 2022
Nephronophthisis 151Jan 11, 2022
Nephronophthisis 191May 28, 2022
Nephronophthisis 201Mar 25, 2022
Nephronophthisis 32Nov 5, 2021
Nephronophthisis 41Sep 4, 2022
Nephropathic cystinosis6Mar 9, 2023
Nephrotic syndrome 151May 28, 2022
Nephrotic syndrome, IIa 261Mar 9, 2023
Nephrotic syndrome, type 114Sep 4, 2022
Nephrotic syndrome, type 184Sep 4, 2022
Nephrotic syndrome, type 25May 28, 2022
Nephrotic syndrome, type 221Jan 11, 2022
Nephrotic syndrome, type 241Sep 4, 2022
Nephrotic syndrome, type 31May 28, 2022
Nephrotic syndrome, type 43Mar 9, 2023
Nephrotic syndrome, type 94Mar 9, 2023
Netherton syndrome4Jul 18, 2023
Neurodegeneration with brain iron accumulation 42Sep 4, 2022
Neurodegeneration with brain iron accumulation 510Jul 18, 2023
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures2Jul 18, 2023
Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline1Sep 4, 2022
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity4Jan 11, 2022
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia1Sep 4, 2022
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction1Mar 9, 2023
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities1Nov 5, 2021
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies1Jul 18, 2023
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum1Mar 9, 2023
Neurodevelopmental disorder with dysmorphic facies and variable seizures2Nov 5, 2021
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities1Mar 25, 2022
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination2Nov 5, 2021
Neurodevelopmental disorder with eye movement abnormalities and ataxia1Jul 18, 2023
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly1Mar 9, 2023
Neurodevelopmental disorder with hypotonia and brain abnormalities4Jul 18, 2023
Neurodevelopmental disorder with hypotonia and dysmorphic facies2May 28, 2022
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities3May 28, 2022
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities2Jul 18, 2023
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures1Mar 9, 2023
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation1Jan 11, 2022
Neurodevelopmental disorder with hypotonia, seizures, and absent language1Nov 5, 2021
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures1Mar 9, 2023
Neurodevelopmental disorder with impaired speech and hyperkinetic movements3Sep 4, 2022
Neurodevelopmental disorder with infantile epileptic spasms2Jan 11, 2022
Neurodevelopmental disorder with involuntary movements2Jan 11, 2022
Neurodevelopmental disorder with language impairment and behavioral abnormalities1Nov 5, 2021
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment1Jul 18, 2023
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities1Nov 5, 2021
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart2Sep 4, 2022
Neurodevelopmental disorder with or without autism or seizures1Nov 7, 2021
Neurodevelopmental disorder with or without early-onset generalized epilepsy5Jul 18, 2023
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA2Jul 18, 2023
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities2Sep 4, 2022
Neurodevelopmental disorder with poor language and loss of hand skills1Nov 5, 2021
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies2Jan 11, 2022
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures4Jul 18, 2023
Neurodevelopmental disorder with severe motor impairment and absent language2Mar 9, 2023
Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties1Mar 9, 2023
Neurodevelopmental disorder with speech impairment and dysmorphic facies2Jul 18, 2023
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies1May 28, 2022
Neurodevelopmental disorder with visual defects and brain anomalies2Mar 9, 2023
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities3May 28, 2022
Neuroferritinopathy1Nov 5, 2021
Neurofibromatosis, type 168Jul 18, 2023
Neurofibromatosis, type 21Jul 18, 2023
Neurofibromatosis-Noonan syndrome12Mar 9, 2023
Neurogenic scapuloperoneal syndrome, Kaeser type1Jan 11, 2022
Neuronal ceroid lipofuscinosis 15Jul 18, 2023
Neuronal ceroid lipofuscinosis 131Jul 18, 2023
Neuronal ceroid lipofuscinosis 21Sep 4, 2022
Neuronal ceroid lipofuscinosis 33May 28, 2022
Neuronal ceroid lipofuscinosis 71May 28, 2022
Neuronal ceroid lipofuscinosis 83Sep 4, 2022
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant1Jan 11, 2022
Neuronopathy, distal hereditary motor, autosomal dominant 81Jan 11, 2022
Neuronopathy, distal hereditary motor, autosomal recessive 71Jul 18, 2023
Neuronopathy, distal hereditary motor, autosomal recessive 82Mar 9, 2023
Neuronopathy, distal hereditary motor, type 2D1Jan 11, 2022
Neuronopathy, distal hereditary motor, type 5A2Jul 18, 2023
Neuroocular syndrome4Sep 4, 2022
Neurooculocardiogenitourinary syndrome1Nov 5, 2021
Neuropathy, congenital hypomyelinating, 21Nov 5, 2021
Neutral 1 amino acid transport defect1Mar 25, 2022
Neutropenia, severe congenital, 1, autosomal dominant1May 28, 2022
Newfoundland cone-rod dystrophy2May 28, 2022
Nicolaides-Baraitser syndrome5Mar 9, 2023
Niemann-Pick disease, type A4May 28, 2022
Niemann-Pick disease, type B3Jul 18, 2023
Niemann-Pick disease, type C15Mar 9, 2023
Night blindness, congenital stationary, type1i2May 28, 2022
Nizon-Isidor syndrome1Sep 4, 2022
Non-acquired combined pituitary hormone deficiency with spine abnormalities1Mar 9, 2023
Non-ketotic hyperglycinemia13Jul 18, 2023
Nonsyndromic congenital nail disorder 11Jan 11, 2022
Nonsyndromic congenital nail disorder 31Jan 11, 2022
Noonan syndrome 126Jul 18, 2023
Noonan syndrome 102Mar 9, 2023
Noonan syndrome 111Mar 9, 2023
Noonan syndrome 121Mar 9, 2023
Noonan syndrome 34Mar 9, 2023
Noonan syndrome 49Mar 9, 2023
Noonan syndrome 53Sep 4, 2022
Noonan syndrome 62Mar 25, 2022
Noonan syndrome 71Jan 11, 2022
Noonan syndrome 87Mar 9, 2023
Noonan syndrome-like disorder with loose anagen hair 11Nov 5, 2021
Noonan syndrome-like disorder with loose anagen hair 21Nov 5, 2021
Nystagmus 1, congenital, X-linked1Nov 7, 2021
O'Donnell-Luria-Rodan syndrome1Mar 9, 2023
Obesity due to leptin receptor gene deficiency1May 28, 2022
Obesity due to prohormone convertase I deficiency2Jan 11, 2022
Ocular albinism, type I2May 28, 2022
Oculocerebrofacial syndrome, Kaufman type4Jul 18, 2023
Oculocutaneous albinism type 33May 28, 2022
Oculocutaneous albinism type 41Sep 4, 2022
Oculodentodigital dysplasia1Nov 5, 2021
Oculofaciocardiodental syndrome2Mar 9, 2023
Oculotrichoanal syndrome2Mar 9, 2023
Ogden syndrome5Mar 9, 2023
Oguchi disease-11Jan 11, 2022
Okur-Chung neurodevelopmental syndrome5May 28, 2022
Optic atrophy 121Mar 9, 2023
Optic atrophy 13 with retinal and foveal abnormalities1May 28, 2022
Ornithine aminotransferase deficiency1Mar 25, 2022
Ornithine carbamoyltransferase deficiency1Sep 4, 2022
Orofacial cleft 6, susceptibility to1Jan 11, 2022
Orofaciodigital syndrome I3Mar 9, 2023
Orofaciodigital syndrome type 63May 28, 2022
Oroticaciduria1Jul 18, 2023
Osteochondritis dissecans1Jan 11, 2022
Osteogenesis imperfecta type 111Jul 18, 2023
Osteogenesis imperfecta type 131May 28, 2022
Osteogenesis imperfecta type 151May 28, 2022
Osteogenesis imperfecta type 161May 28, 2022
Osteogenesis imperfecta type 51Jan 11, 2022
Osteogenesis imperfecta type 63May 28, 2022
Osteogenesis imperfecta type 73May 28, 2022
Osteogenesis imperfecta type 82Mar 25, 2022
Osteogenesis imperfecta type I8Jul 18, 2023
Osteogenesis imperfecta type III15Jul 18, 2023
Osteogenesis imperfecta with normal sclerae, dominant form16Jul 18, 2023
Osteogenesis imperfecta, perinatal lethal3Jul 18, 2023
Osteoglophonic dysplasia1Nov 7, 2021
Osteopathia striata with cranial sclerosis2Jul 18, 2023
Osteopetrosis with renal tubular acidosis1Jan 11, 2022
Osteoporosis with pseudoglioma3Jul 18, 2023
Oto-palato-digital syndrome, type I1Mar 9, 2023
Oto-palato-digital syndrome, type II1Mar 25, 2022
Otospondylomegaepiphyseal dysplasia, autosomal recessive2Jul 18, 2023
PCWH syndrome1Mar 25, 2022
PERCHING syndrome1Sep 4, 2022
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome4Sep 4, 2022
PIDD1-related disorder1Jan 11, 2022
PMM2-congenital disorder of glycosylation13Jul 18, 2023
PSAT deficiency1Jan 11, 2022
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome6Jul 18, 2023
PYCR1-related de Barsy syndrome2Jul 18, 2023
Pachyonychia congenita 31May 28, 2022
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome1Nov 7, 2021
Pallister-Hall syndrome3May 28, 2022
Palmoplantar keratoderma i, striate, focal, or diffuse1Jan 11, 2022
Palmoplantar keratoderma, Nagashima type3Jan 11, 2022
Palmoplantar keratoderma, epidermolytic3Sep 4, 2022
Palmoplantar keratoderma, punctate type 1A1Jan 11, 2022
Pancytopenia due to IKZF1 mutations1Mar 9, 2023
Papillon-Lefèvre syndrome1May 28, 2022
Paragangliomas 12Jan 11, 2022
Paragangliomas 42Jul 18, 2023
Paramyotonia congenita of Von Eulenburg1Mar 9, 2023
Parastremmatic dwarfism1Sep 4, 2022
Parenti-mignot neurodevelopmental syndrome1Mar 9, 2023
Parkinson disease 171Jul 18, 2023
Parkinson disease, late-onset1Jan 11, 2022
Paroxysmal nocturnal hemoglobinuria 11Mar 9, 2023
Partial androgen insensitivity syndrome4May 28, 2022
Peeling skin syndrome 11Mar 9, 2023
Pelizaeus-Merzbacher disease2Jul 18, 2023
Pendred syndrome1Sep 4, 2022
Periodic fever-infantile enterocolitis-autoinflammatory syndrome1Jul 18, 2023
Periventricular heterotopia with microcephaly, autosomal recessive1Sep 4, 2022
Periventricular nodular heterotopia 61Nov 5, 2021
Periventricular nodular heterotopia 93Mar 9, 2023
Perlman syndrome1Jan 11, 2022
Peroxisome biogenesis disorder 2A (Zellweger)2Nov 5, 2021
Peroxisome biogenesis disorder 4A (Zellweger)2Jul 18, 2023
Peroxisome biogenesis disorder 7A (Zellweger)1Jan 11, 2022
Peroxisome biogenesis disorder 7B1Sep 4, 2022
Peroxisome biogenesis disorder type 3B1May 28, 2022
Persistent Mullerian duct syndrome1Sep 4, 2022
Peters plus syndrome