U.S. flag

An official website of the United States government

Victorian Clinical Genetics Services (Murdoch Childrens Research Institute), VCGS

General information

Victorian Clinical Genetics Services, VCGS
Murdoch Childrens Research Institute
50 Flemington Rd
Melbourne
Victoria
Australia - 3052
http://www.vcgs.org.au/pathology/
Organization ID: 500104

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 5939

Gene

GeneSubmissionsLast Updated
AAAS3Jul 18, 2024
AAGAB2Jul 18, 2024
AARS11Jul 18, 2024
AARS25Jul 18, 2024
ABCA123Jul 18, 2024
ABCA35Jul 18, 2024
ABCA432Jul 18, 2024
ABCB111Dec 21, 2022
ABCC65Jul 18, 2024
ABCC81Apr 4, 2023
ABCC94Dec 21, 2022
ABCD14Dec 21, 2022
ABCG51Jul 18, 2024
ABCG81Jul 18, 2024
ABL11Jul 18, 2024
ACAD97Jul 18, 2024
ACADM4Dec 21, 2022
ACADS2Dec 21, 2022
ACADVL6Jul 18, 2024
ACAT11Dec 21, 2022
ACO22Dec 21, 2022
ACSL42Jul 18, 2024
ACSM31Jul 18, 2024
ACTA27Jul 18, 2024
ACTA2-AS13Jul 18, 2024
ACTB7Jul 18, 2024
ACTC12Dec 21, 2022
ACTG13Jul 18, 2024
ACTG24Jul 18, 2024
ACTN12Jul 18, 2024
ACTN27Jul 18, 2024
ACTN42Jul 18, 2024
ACVRL18Jul 18, 2024
ADA1Jul 18, 2024
ADA23Jul 18, 2024
ADAMTS101Jul 18, 2024
ADAMTS134Jul 18, 2024
ADAMTS21Dec 21, 2022
ADAMTSL22Dec 21, 2022
ADAMTSL44Jul 18, 2024
ADAMTSL4-AS22Jul 18, 2024
ADAR1Jul 18, 2024
ADAT31Jul 18, 2024
ADGRG12Dec 21, 2022
ADGRG61Jul 18, 2024
ADGRL11Jul 18, 2024
ADGRL1-AS11Jul 18, 2024
ADGRV13Jul 18, 2024
ADNP11Jul 18, 2024
ADSL2Jul 18, 2024
AFF22Jul 18, 2024
AFF42Jul 18, 2024
AFG2A4Jul 18, 2024
AFG2B1Jul 18, 2024
AGK3Dec 21, 2022
AGL5Jul 18, 2024
AGO13Jul 18, 2024
AGPAT22Dec 21, 2022
AGRN1Jul 18, 2024
AGXT7Jul 18, 2024
AHDC16Jul 18, 2024
AHI16Jul 18, 2024
AIFM12Dec 21, 2022
AK21Jul 18, 2024
AKAP91Jul 18, 2024
AKT11Dec 21, 2022
AKT31Jul 18, 2024
ALDH5A12Jul 18, 2024
ALDH6A11Jul 18, 2024
ALDH7A14Jul 18, 2024
ALDOB3Dec 21, 2022
ALG15Jul 18, 2024
ALG131Dec 21, 2022
ALG21Dec 21, 2022
ALG33Jul 18, 2024
ALG61Jul 18, 2024
ALG91Dec 21, 2022
ALKBH81Jul 18, 2024
ALMS18Jul 18, 2024
ALOXE32Jul 18, 2024
ALPK11Jul 18, 2024
ALPK322Jul 18, 2024
ALS23Dec 21, 2022
AMH1Dec 21, 2022
AMPD22Aug 30, 2020
AMT2Jul 18, 2024
ANK22Dec 21, 2022
ANKLE21Jul 18, 2024
ANKRD11Dec 21, 2022
ANKRD1132Jul 18, 2024
ANKRD172Jul 18, 2024
ANKRD263Jul 18, 2024
ANLN2Dec 21, 2022
ANO103Dec 21, 2022
ANO31Jul 18, 2024
ANO51Jul 18, 2024
AOPEP1Dec 21, 2022
AP1G11Dec 21, 2022
AP2M11Jul 18, 2024
AP4B14Jul 18, 2024
AP4B1-AS13Jul 18, 2024
AP4M13Jul 18, 2024
AP4S11Jul 18, 2024
AP5Z14Dec 21, 2022
APC4Jul 18, 2024
APC23Jul 18, 2024
APP4Jul 18, 2024
AR11Jul 18, 2024
ARCN12Jul 18, 2024
ARF11Jul 18, 2024
ARFGEF13Jul 18, 2024
ARFGEF23Jul 18, 2024
ARFGEF31Dec 21, 2022
ARHGAP291Dec 21, 2022
ARHGAP312Dec 21, 2022
ARHGAP352Jul 18, 2024
ARHGEF181Dec 21, 2022
ARID1A6Jul 18, 2024
ARID1B26Jul 18, 2024
ARID25Jul 18, 2024
ARL61Dec 21, 2022
ARMC92Dec 21, 2022
ARSA6Jul 18, 2024
ARSB2Jul 18, 2024
ARSL2Dec 21, 2022
ARX1Jul 18, 2024
ASCC11Jul 18, 2024
ASH1L16Jul 18, 2024
ASL1Jul 18, 2024
ASNS1Jul 18, 2024
ASPA1Jul 18, 2024
ASPM15Jul 18, 2024
ASS13Jul 18, 2024
ASXL17Jul 18, 2024
ASXL23Jul 18, 2024
ASXL34Jul 18, 2024
ATIC1Jul 18, 2024
ATL14Jul 18, 2024
ATL31Jul 18, 2024
ATM10Jul 18, 2024
ATP1A12Jul 18, 2024
ATP1A1-AS11Jul 18, 2024
ATP1A22Jul 18, 2024
ATP1A32Jul 18, 2024
ATP6AP23Jul 18, 2024
ATP6V0A21Jul 18, 2024
ATP6V1B13Jul 18, 2024
ATP6V1B22Jul 18, 2024
ATP7A9Jul 18, 2024
ATP7B12Jul 18, 2024
ATP8A21Dec 21, 2022
ATRIP2Nov 1, 2016
ATRIP-TREX12Nov 1, 2016
ATRX2Jul 18, 2024
ATXN7L3-AS11Dec 21, 2022
AUH1Jul 18, 2024
AUTS25Jul 18, 2024
AVP1Jul 18, 2024
AVPR24Jul 18, 2024
AXDND13Jul 18, 2024
B3GALNT22Dec 21, 2022
B3GALT62Jul 18, 2024
B4GALT71Dec 21, 2022
BAG36Jul 18, 2024
BAZ2B3Jul 18, 2024
BBOF11Jul 18, 2024
BBS11Jul 18, 2024
BBS103Dec 21, 2022
BBS24Jul 18, 2024
BBS51Jul 18, 2024
BBS72Dec 21, 2022
BBS92Dec 21, 2022
BCAP311Jul 18, 2024
BCHE3Jul 18, 2024
BCKDHB2Dec 21, 2022
BCL11A4Jul 18, 2024
BCL11B5Jul 18, 2024
BCOR3Jul 18, 2024
BCORL16Jul 18, 2024
BCS1L4Jul 18, 2024
BGN2Jul 18, 2024
BICD21Jul 18, 2024
BICRA1Dec 21, 2022
BIVM-ERCC53Dec 21, 2022
BLM2Jul 18, 2024
BLOC1S1-RDH51Dec 21, 2022
BLTP15Dec 21, 2022
BMP22Jul 18, 2024
BMP42Jul 18, 2024
BMPR24Jul 18, 2024
BOLA31Oct 1, 2019
BPTF8Jul 18, 2024
BRAF7Jul 18, 2024
BRAT18Jul 18, 2024
BRCA12Dec 21, 2022
BRD42Jul 18, 2024
BRF11Dec 21, 2022
BRPF112Jul 18, 2024
BRWD32Dec 21, 2022
BSCL21Apr 4, 2023
BTD3Jul 18, 2024
BTK3Jul 18, 2024
BUB1B2Dec 21, 2022
C10orf1051Dec 21, 2022
C11orf655Jul 18, 2024
C14orf391Jul 18, 2024
C1QA1Dec 21, 2022
C1R2Jul 18, 2024
C1orf1052Jul 18, 2024
C2CD32Dec 21, 2022
C61Jul 18, 2024
C71Jul 18, 2024
CABP41Dec 21, 2022
CACNA1A19Jul 18, 2024
CACNA1C19Jul 18, 2024
CACNA1C-AS17Jul 18, 2024
CACNA1E7Jul 18, 2024
CACNA1F2Jul 18, 2024
CACNA1G7Jul 18, 2024
CACNA1H3Jul 18, 2024
CACNA2D11Dec 21, 2022
CACNA2D21Dec 21, 2022
CACNB22Dec 21, 2022
CAD7Jul 18, 2024
CALM11Jul 18, 2024
CALM21Dec 21, 2022
CALM32Jul 18, 2024
CALR31Dec 21, 2022
CAMK2A2Dec 21, 2022
CAMK2B3Jul 18, 2024
CAMTA14Jul 18, 2024
CANT11Jul 18, 2024
CAPN11Dec 21, 2022
CARD142Dec 21, 2022
CARD91Aug 3, 2022
CARS12Jul 18, 2024
CARS21Dec 21, 2022
CASK9Jul 18, 2024
CASQ21Dec 21, 2022
CASR4Apr 4, 2023
CBL3Jul 18, 2024
CBS4Jul 18, 2024
CC2D1A1Jul 18, 2024
CC2D2A9Jul 18, 2024
CCBE11Jul 18, 2024
CCDC1071Jul 18, 2024
CCDC1152Jul 18, 2024
CCDC224Jul 18, 2024
CCDC392Dec 21, 2022
CCDC401Jul 18, 2024
CCDC501Dec 21, 2022
CCDC651Dec 21, 2022
CCDST4Apr 4, 2023
CCN62Jul 18, 2024
CCND23Jul 18, 2024
CCNF1Dec 21, 2022
CCNH7Jul 18, 2024
CD40LG1Jul 18, 2024
CD631Dec 21, 2022
CDAN12Dec 21, 2022
CDH11Jul 18, 2024
CDH2310Jul 18, 2024
CDK137Jul 18, 2024
CDK191Dec 21, 2022
CDK83Jul 18, 2024
CDKL58Jul 18, 2024
CDON2Jul 18, 2024
CENPE1Dec 21, 2022
CEP1043Jul 18, 2024
CEP1351Dec 21, 2022
CEP2909Jul 18, 2024
CEP411Jul 18, 2024
CEP85L2Jul 18, 2024
CERKL2Dec 21, 2022
CERS12Dec 21, 2022
CFAP4101Dec 21, 2022
CFAP921Jul 18, 2024
CFI1Apr 4, 2023
CFTR2Apr 4, 2023
CFTR-AS11Oct 1, 2019
CHAMP11Jul 18, 2024
CHAT2Dec 21, 2022
CHD16Jul 18, 2024
CHD211Jul 18, 2024
CHD311Jul 18, 2024
CHD414Jul 18, 2024
CHD54Jul 18, 2024
CHD727Jul 18, 2024
CHD811Jul 18, 2024
CHM5Jul 18, 2024
CHRDL12Jul 18, 2024
CHRNA41Jul 18, 2024
CHST31Jul 18, 2024
CHST61Jul 18, 2024
CIC9Jul 18, 2024
CIT2Dec 21, 2022
CITED21Dec 21, 2022
CKAP2L2Jul 18, 2024
CLASP15Jul 18, 2024
CLCN44Jul 18, 2024
CLCN512Jul 18, 2024
CLCN62Jul 18, 2024
CLCN71Nov 9, 2017
CLCNKB2Dec 21, 2022
CLDN141Dec 21, 2022
CLDN14-AS11Dec 21, 2022
CLDN161Aug 30, 2020
CLDN191Jul 18, 2024
CLN32Jul 18, 2024
CLTC5Jul 18, 2024
CNGA32Dec 21, 2022
CNGB35Jul 18, 2024
CNKSR11Dec 21, 2022
CNKSR21Jul 18, 2024
CNOT14Jul 18, 2024
CNOT22Jul 18, 2024
CNOT33Jul 18, 2024
CNPY31Dec 21, 2022
CNPY3-GNMT2Jul 18, 2024
CNTNAP23Jul 18, 2024
COASY2Jul 18, 2024
COCH1Aug 15, 2019
COG61Dec 21, 2022
COG82Dec 21, 2022
COL10A13Jul 18, 2024
COL12A12Jul 18, 2024
COL13A12Jul 18, 2024
COL1A122Jul 18, 2024
COL1A21Nov 1, 2016
COL25A12Jul 18, 2024
COL27A11Dec 21, 2022
COL2A123Jul 18, 2024
COL4A116Jul 18, 2024
COL4A28Jul 18, 2024
COL4A2-AS13Jul 18, 2024
COL4A2-AS21Dec 21, 2022
COL4A38Aug 30, 2020
COL4A412Aug 30, 2020
COL4A559Jul 18, 2024
COL4A61Jul 18, 2024
COL5A19Jul 18, 2024
COL5A26Jul 18, 2024
COL6A33Apr 4, 2023
COL7A15Apr 4, 2023
COL9A13Jul 18, 2024
COLQ2Jul 18, 2024
COQ72Jul 18, 2024
COQ8A1Jul 18, 2024
COX153Dec 21, 2022
CPLANE112Jul 18, 2024
CPS15Dec 21, 2022
CPT1C1Jul 18, 2024
CPT22Dec 21, 2022
CRB22Jul 18, 2024
CREBBP18Jul 18, 2024
CRPPA3Dec 21, 2022
CRPPA-AS11Dec 21, 2022
CRTAP2Dec 21, 2022
CRY11Jul 18, 2024
CRYAB1Oct 1, 2019
CRYBB21Jul 18, 2024
CRYGS1Dec 21, 2022
CRYM1Dec 21, 2022
CSDE11Dec 21, 2022
CSF3R1Dec 21, 2022
CSGALNACT11Dec 21, 2022
CSNK2A13Jul 18, 2024
CSNK2B4Jul 18, 2024
CSPP11Jul 18, 2024
CSRP37Jul 18, 2024
CTC12Dec 21, 2022
CTCF6Jul 18, 2024
CTDP11Dec 21, 2022
CTNNA21Dec 21, 2022
CTNNA32Dec 21, 2022
CTNNB114Jul 18, 2024
CTNND12Jul 18, 2024
CTNND21Dec 21, 2022
CTNS1Apr 4, 2023
CTSA1Dec 21, 2022
CTSD1Jul 18, 2024
CUBN9Jul 18, 2024
CUL36Jul 18, 2024
CUL4B4Jul 18, 2024
CUX13Jul 18, 2024
CUX23Jul 18, 2024
CYBB2Jul 18, 2024
CYP11A11Dec 21, 2022
CYP1B14Jul 18, 2024
CYP21A210Jul 18, 2024
CYP24A11Jul 18, 2024
CYP27A12Dec 21, 2022
CYP2U12Jul 18, 2024
CYP4V21Dec 21, 2022
CYP7B11Dec 21, 2022
CZ1P-ASNS1Jul 18, 2024
D2HGDH2Dec 21, 2022
DAG12Jul 18, 2024
DARS12Nov 9, 2017
DARS23Dec 21, 2022
DBR12Jul 18, 2024
DCHS11Jul 18, 2024
DCX3Dec 21, 2022
DDB11Jul 18, 2024
DDC4Dec 21, 2022
DDHD11Jul 18, 2024
DDHD21Jul 18, 2024
DDX115Jul 18, 2024
DDX232Jul 18, 2024
DDX3X7Jul 18, 2024
DDX61Jul 18, 2024
DEPDC510Jul 18, 2024
DHCR78Jul 18, 2024
DHH1Dec 21, 2022
DHTKD11Jul 18, 2024
DHX161Dec 21, 2022
DHX302Jul 18, 2024
DIP2B1Dec 21, 2022
DIPK1A4Jul 18, 2024
DIS3L22Dec 21, 2022
DKC14Jul 18, 2024
DLAT1Jul 18, 2024
DLD1Dec 21, 2022
DLG33Jul 18, 2024
DLG3-AS11Jul 18, 2024
DLG47Jul 18, 2024
DLL13Jul 18, 2024
DLL41Jul 18, 2024
DMD17Jul 18, 2024
DMXL21Jul 18, 2024
DNAAF41Apr 4, 2023
DNAAF4-CCPG11Apr 4, 2023
DNAH118Jul 18, 2024
DNAH55Jul 18, 2024
DNAH92Jul 18, 2024
DNAI12Dec 21, 2022
DNAJB112Jul 18, 2024
DNAJB131Dec 21, 2022
DNAJC213Jul 18, 2024
DNM12Jul 18, 2024
DNM1L2Apr 4, 2023
DNMBP1Jul 18, 2024
DNMBP-AS11Jul 18, 2024
DNMT15Jul 18, 2024
DNMT3A9Jul 18, 2024
DOCK74Jul 18, 2024
DOK71Dec 21, 2022
DONSON4Jul 18, 2024
DPF22Jul 18, 2024
DPM11Dec 21, 2022
DPYD8Dec 21, 2022
DPYD-AS12Dec 21, 2022
DSG1-AS11Dec 21, 2022
DSG21Jul 18, 2024
DSG41Dec 21, 2022
DSP1Apr 4, 2023
DST1Dec 21, 2022
DTNA1Jul 18, 2024
DUOX21Jul 18, 2024
DUOXA21Dec 21, 2022
DVL13Jul 18, 2024
DYNC1H110Jul 18, 2024
DYNC2H19Jul 18, 2024
DYNC2LI13Jul 18, 2024
DYRK1A9Jul 18, 2024
DYSF3Dec 21, 2022
DZIP1L2Jul 18, 2024
EARS24Jul 18, 2024
EBF33Jul 18, 2024
EBP1Jul 18, 2024
ECEL15Jul 18, 2024
ECHS110Dec 21, 2022
EDA1Dec 21, 2022
EED1Jul 18, 2024
EEF1A26Jul 18, 2024
EEF1D2Dec 21, 2022
EEF22Jul 18, 2024
EEF2KMT1Jul 18, 2024
EFEMP22Jul 18, 2024
EFL11Jul 18, 2024
EFNB12Jul 18, 2024
EFTUD29Jul 18, 2024
EHMT18Jul 18, 2024
EIF2B11Dec 21, 2022
EIF2B24Dec 21, 2022
EIF2B31Dec 21, 2022
EIF2B43Dec 21, 2022
EIF2B52Dec 21, 2022
EIF3F1Jul 18, 2024
ELAC22Dec 21, 2022
ELANE1Jul 18, 2024
ELN4Jul 18, 2024
ELN-AS12Dec 21, 2022
ELOVL51Dec 21, 2022
ELP22Dec 21, 2022
EMC14Dec 21, 2022
EMC1-AS14Dec 21, 2022
EMD2Jul 18, 2024
EME21Dec 21, 2022
EML12Dec 21, 2022
ENG16Jul 18, 2024
ENO32Dec 21, 2022
ENPP12Oct 1, 2019
EP3009Jul 18, 2024
EPAS12Jul 18, 2024
EPB41L11Dec 21, 2022
EPHA21Dec 21, 2022
EPHB410Jul 18, 2024
EPRS12Dec 21, 2022
ERCC12Sep 16, 2020
ERCC22Dec 21, 2022
ERCC33Jul 18, 2024
ERCC42Dec 21, 2022
ERCC53Dec 21, 2022
ERCC63Jul 18, 2024
ERCC81Jul 18, 2024
ERF1Jul 18, 2024
ESPN1Dec 21, 2022
ESRRB1Dec 21, 2022
ETFA2Dec 21, 2022
ETFB1Dec 21, 2022
ETFDH4Jul 18, 2024
ETHE13Jul 18, 2024
ETV62Jul 18, 2024
EXOC71Dec 21, 2022
EXOSC33Jul 18, 2024
EXOSC91Jul 18, 2024
EXPH51Dec 21, 2022
EXT11Dec 21, 2022
EYA13Jul 18, 2024
EYA42Jul 18, 2024
EYS4Jul 18, 2024
EZH22Jul 18, 2024
F13B1Jul 18, 2024
F21Apr 4, 2023
F72Jul 18, 2024
F89Jul 18, 2024
F91Dec 21, 2022
FA2H2Dec 21, 2022
FAH1Jul 18, 2024
FAM111A3Jul 18, 2024
FAM20A1Dec 21, 2022
FAN14Dec 21, 2022
FANCA6Jul 18, 2024
FANCB1Jul 18, 2024
FANCC2Jul 18, 2024
FANCD22Jul 18, 2024
FANCG1Dec 21, 2022
FAT13Jul 18, 2024
FAT21Jul 18, 2024
FAT47Jul 18, 2024
FBN136Jul 18, 2024
FBN217Jul 18, 2024
FBXL45Jul 18, 2024
FBXO112Jul 18, 2024
FBXW72Jul 18, 2024
FDFT11Dec 21, 2022
FDXR3Jul 18, 2024
FECH4Jul 18, 2024
FERRY32Jul 18, 2024
FGA1Apr 4, 2023
FGD16Jul 18, 2024
FGF102Jul 18, 2024
FGF141Jul 18, 2024
FGF31Dec 21, 2022
FGF91Dec 21, 2022
FGFR14Jul 18, 2024
FGFR23Apr 4, 2023
FGFR31Apr 4, 2023
FHL11Jul 18, 2024
FHOD314Jul 18, 2024
FKBP101Dec 21, 2022
FKRP5Jul 18, 2024
FKTN4Jul 18, 2024
FLCN2Dec 21, 2022
FLG4Apr 4, 2023
FLII1Jul 18, 2024
FLNA4Jul 18, 2024
FLNC46Jul 18, 2024
FLNC-AS118Jul 18, 2024
FLT45Jul 18, 2024
FMN23Dec 21, 2022
FMO31Jul 18, 2024
FMR11Jul 18, 2024
FN18Jul 18, 2024
FOLR11Jul 18, 2024
FOXC11Jul 18, 2024
FOXC21Dec 21, 2022
FOXC2-AS11Dec 21, 2022
FOXF11Jul 18, 2024
FOXG15Jul 18, 2024
FOXL22Jul 18, 2024
FOXP117Jul 18, 2024
FOXP25Jul 18, 2024
FOXP31Dec 21, 2022
FOXRED13Dec 21, 2022
FPGT-TNNI3K3Jul 18, 2024
FRAS11Jul 18, 2024
FREM22Jul 18, 2024
FRMD51Jul 18, 2024
FRMD72Jul 18, 2024
FRMPD41Jul 18, 2024
FSCN21Dec 21, 2022
FTCD1Dec 21, 2022
FTCD-AS11Dec 21, 2022
FZD21Dec 21, 2022
FZD42Jul 18, 2024
G6PD14Jul 18, 2024
GAA7Jul 18, 2024
GABBR21Jul 18, 2024
GABRA22Jul 18, 2024
GABRA51Jul 18, 2024
GABRB11Dec 21, 2022
GABRB23Jul 18, 2024
GABRB34Jul 18, 2024
GABRD2Dec 21, 2022
GABRG23Jul 18, 2024
GALC6Jul 18, 2024
GALNS2Jul 18, 2024
GALNT32Jul 18, 2024
GALT2Jul 18, 2024
GAMT2Jul 18, 2024
GANAB5Jul 18, 2024
GAREM21Jul 18, 2024
GAS2L21Jul 18, 2024
GATA11Jul 18, 2024
GATA36Jul 18, 2024
GATA46Jul 18, 2024
GATA63Dec 21, 2022
GATAD13Jul 18, 2024
GATAD2B2Jul 18, 2024
GBA18Jul 18, 2024
GBE12Jul 18, 2024
GBF11Jul 18, 2024
GCDH5Jul 18, 2024
GDF12Dec 21, 2022
GDF91Dec 21, 2022
GEMIN51Jul 18, 2024
GFAP10Jul 18, 2024
GFER3Jul 18, 2024
GFI11Jul 18, 2024
GFM22Jul 18, 2024
GIGYF13Jul 18, 2024
GJA81Jul 18, 2024
GJB14Jul 18, 2024
GJB211Dec 21, 2022
GJB61Jul 18, 2024
GJD2-DT2Dec 21, 2022
GLA6Dec 21, 2022
GLB110Jul 18, 2024
GLDC3Jul 18, 2024
GLDN4Jul 18, 2024
GLI22Jul 18, 2024
GLI35Jul 18, 2024
GLMN2Dec 21, 2022
GLRX51Dec 21, 2022
GLS1Dec 21, 2022
GM2A1Jul 18, 2024
GMPPB1Jul 18, 2024
GNAI12Jul 18, 2024
GNAL1Dec 21, 2022
GNAO14Jul 18, 2024
GNAT21Jul 18, 2024
GNB14Jul 18, 2024
GNB21Dec 21, 2022
GNB41Dec 21, 2022
GNB51Jul 18, 2024
GNMT1Jul 18, 2024
GNRHR3Jul 18, 2024
GNS1Jul 18, 2024
GPAA12Jul 18, 2024
GPC32Jul 18, 2024
GPC42Jul 18, 2024
GPC61Dec 21, 2022
GPD1L1Dec 21, 2022
GPR1431Dec 21, 2022
GPR1791Dec 21, 2022
GPR681Dec 21, 2022
GPSM21Dec 21, 2022
GPT26Jul 18, 2024
GREB1L1Jul 18, 2024
GRHPR4Jul 18, 2024
GRIA12Jul 18, 2024
GRIA21Dec 21, 2022
GRIA33Jul 18, 2024
GRIK21Oct 1, 2019
GRIN11Apr 4, 2023
GRIN2A3Dec 21, 2022
GRIN2B5Jul 18, 2024
GRIN2D1Jul 18, 2024
GRM11Jul 18, 2024
GRM72Jul 18, 2024
GRXCR11Jul 18, 2024
GSC1Jul 18, 2024
GTF3C2-AS21Aug 3, 2022
GTF3C31Jul 18, 2024
GTPBP34Jul 18, 2024
GUCA1A1Jul 18, 2024
GUCA1ANB-GUCA1A1Jul 18, 2024
GUSB2Dec 21, 2022
GYG11Jul 18, 2024
GYS24Jul 18, 2024
H4C32Jul 18, 2024
H4C51Jul 18, 2024
HADH2Dec 21, 2022
HADHA4Jul 18, 2024
HAFML1Dec 21, 2022
HARS21Dec 21, 2022
HAX11Jul 18, 2024
HBA-LCR3Jul 18, 2024
HBA11Apr 4, 2023
HBA21Apr 4, 2023
HBB1Dec 21, 2022
HCFC16Jul 18, 2024
HCN12Jul 18, 2024
HCN42Jul 18, 2024
HDAC42Jul 18, 2024
HDAC82Aug 30, 2020
HECW29Dec 21, 2022
HERC14Jul 18, 2024
HERC25Jul 18, 2024
HEXA9Jul 18, 2024
HEXB2Dec 21, 2022
HFE3Jul 18, 2024
HFE-AS12Jul 18, 2024
HGSNAT2Jul 18, 2024
HIVEP24Jul 18, 2024
HJV2Dec 21, 2022
HLCS2Dec 21, 2022
HMBS2Jul 18, 2024
HMGCL1Dec 21, 2022
HMGCS24Jul 18, 2024
HNF1A3Jul 18, 2024
HNF1B18Jul 18, 2024
HNRNPH21Dec 21, 2022
HNRNPK6Jul 18, 2024
HNRNPK-AS14Jul 18, 2024
HNRNPU3Jul 18, 2024
HNRNPUL2-BSCL21Apr 4, 2023
HOGA13Jul 18, 2024
HOXA131Dec 21, 2022
HPDL2Jul 18, 2024
HPRT11Dec 21, 2022
HPS11Jul 18, 2024
HPS52Dec 21, 2022
HPS62Jul 18, 2024
HRAS5Jul 18, 2024
HSALR11Apr 4, 2023
HSD17B101Oct 1, 2019
HSD17B33Jul 18, 2024
HSD17B3-AS11Jul 18, 2024
HSD17B47Jul 18, 2024
HSPB11Jul 18, 2024
HSPB81Dec 21, 2022
HSPG22Jul 18, 2024
HUWE118Jul 18, 2024
HYDIN1Jul 18, 2024
HYLS13Jul 18, 2024
IARS13Dec 21, 2022
IBA573Dec 21, 2022
IDH21Dec 21, 2022
IDS3Jul 18, 2024
IDUA2Jul 18, 2024
IFITM51Jul 18, 2024
IFT1222Jul 18, 2024
IFT1724Dec 21, 2022
IGHMBP23Dec 21, 2022
IKBKG3Jul 18, 2024
IL11RA1Jul 18, 2024
IL1RAPL11Jul 18, 2024
IL2RG3Jul 18, 2024
ILDR11Jul 18, 2024
IMPDH11Dec 21, 2022
INF28Jul 18, 2024
INPP5E2Dec 21, 2022
INSL31Dec 21, 2022
INTS16Jul 18, 2024
INTU1Jul 18, 2024
INVS2Jul 18, 2024
IQSEC12Dec 21, 2022
IQSEC211Jul 18, 2024
IRAK1BP11Dec 21, 2022
IREB22Oct 1, 2019
IRF2BPL6Dec 21, 2022
ITPA3Jul 18, 2024
ITSN11Dec 21, 2022
JAG18Jul 18, 2024
JMJD1C1Jul 18, 2024
JPH24Dec 21, 2022
KANSL14Jul 18, 2024
KAT6A14Jul 18, 2024
KAT6B10Jul 18, 2024
KAT81Jul 18, 2024
KBTBD131Jul 18, 2024
KCNA12Jul 18, 2024
KCNA22Jul 18, 2024
KCNA51Dec 21, 2022
KCNB16Jul 18, 2024
KCNC31Jul 18, 2024
KCND33Jul 18, 2024
KCNE23Dec 21, 2022
KCNH14Jul 18, 2024
KCNH240Jul 18, 2024
KCNJ15Jul 18, 2024
KCNJ23Jul 18, 2024
KCNJ51Dec 21, 2022
KCNJ82Jul 18, 2024
KCNK181Dec 21, 2022
KCNK91Apr 4, 2023
KCNN21Jul 18, 2024
KCNQ13Jul 18, 2024
KCNQ218Jul 18, 2024
KCNQ45Jul 18, 2024
KCNQ51Jul 18, 2024
KCNT17Jul 18, 2024
KCNT23Jul 18, 2024
KCTD11Jul 18, 2024
KCTD72Jul 18, 2024
KDM1A8Jul 18, 2024
KDM3B1Jul 18, 2024
KDM5B1Apr 4, 2023
KDM5C7Jul 18, 2024
KDM6A11Jul 18, 2024
KDM6B6Jul 18, 2024
KIAA05865Jul 18, 2024
KIAA07533Jul 18, 2024
KIDINS2203Dec 21, 2022
KIF115Jul 18, 2024
KIF144Jul 18, 2024
KIF1A2Jul 18, 2024
KIF1C3Jul 18, 2024
KIF21A1Dec 21, 2022
KIF21B3Jul 18, 2024
KIF222Dec 21, 2022
KIF4A1Jul 18, 2024
KIF5A2Jul 18, 2024
KIF5C2Jul 18, 2024
KIF71Jul 18, 2024
KIRREL21Dec 21, 2022
KLF71Jul 18, 2024
KLF9-DT2Jul 18, 2024
KLHL403Jul 18, 2024
KMT2A23Jul 18, 2024
KMT2B3Jul 18, 2024
KMT2C14Jul 18, 2024
KMT2D34Jul 18, 2024
KMT2E5Jul 18, 2024
KMT5B2Jul 18, 2024
KPTN3Jul 18, 2024
KRAS2Dec 21, 2022
KRIT16Jul 18, 2024
KRT13Jul 18, 2024
KRT161Jul 18, 2024
KRT171Dec 21, 2022
KRT6A1Jul 18, 2024
KRT851Jul 18, 2024
KRTCAP31Aug 30, 2020
L1CAM7Jul 18, 2024
L2HGDH1Dec 21, 2022
LAMA15Jul 18, 2024
LAMA27Jul 18, 2024
LAMA43Dec 21, 2022
LAMB11Dec 21, 2022
LAMB22Jul 18, 2024
LAMC22Jul 18, 2024
LAMP23Jul 18, 2024
LARP73Jul 18, 2024
LARS12Jul 18, 2024
LARS23Jul 18, 2024
LARS2-AS12Jul 18, 2024
LAS1L4Jul 18, 2024
LBR1Nov 1, 2016
LDB36Dec 21, 2022
LDLR5Dec 21, 2022
LEMD31Jul 18, 2024
LHB1Dec 21, 2022
LHFPL51Dec 21, 2022
LIG11Jul 18, 2024
LIG31Jul 18, 2024
LINS12Dec 21, 2022
LIPA3Apr 4, 2023
LIPT12Dec 21, 2022
LIX1L-AS11Jul 18, 2024
LMBRD23Jul 18, 2024
LMNB11Jul 18, 2024
LMOD31Dec 21, 2022
LMX1A2Jul 18, 2024
LMX1B2Dec 21, 2022
LOC1001303572Jul 18, 2024
LOC1005060711Aug 15, 2019
LOC1005073461Dec 21, 2022
LOC1019270781Jul 18, 2024
LOC1019275211Jul 18, 2024
LOC1027235667Jul 18, 2024
LOC10272405811Jul 18, 2024
LOC1053715666Dec 21, 2022
LOC1053718562Jul 18, 2024
LOC1053727913Dec 21, 2022
LOC1060501023Jul 18, 2024
LOC1060990621Dec 21, 2022
LOC1065017132Dec 21, 2022
LOC1066279818Jul 18, 2024
LOC10678080010Jul 18, 2024
LOC1068046121Apr 4, 2023
LOC1071262881Dec 21, 2022
LOC1071335101Dec 21, 2022
LOC1073033382Jul 18, 2024
LOC1079804401Jul 18, 2024
LOC1079846381Dec 21, 2022
LOC1080218461Jul 18, 2024
LOC1082811261Jul 18, 2024
LOC1082811342Jul 18, 2024
LOC1101214862Dec 21, 2022
LOC1117184931Dec 21, 2022
LOC1137882771Dec 21, 2022
LOC1139399441Jul 18, 2024
LOC1148278512Dec 21, 2022
LOC1170387951Dec 21, 2022
LOC1215875741Jul 18, 2024
LOC1216278321Dec 21, 2022
LOC1218159741Jul 18, 2024
LOC1218529631Dec 21, 2022
LOC1221522961Dec 21, 2022
LOC1228612891Jul 18, 2024
LOC1239562102Dec 21, 2022
LOC1251775231Dec 21, 2022
LOC1253714951Jul 18, 2024
LOC1254462611Jul 18, 2024
LOC1266533981Dec 21, 2022
LOC1268057932Jul 18, 2024
LOC1268057941Jul 18, 2024
LOC1268058221Aug 30, 2020
LOC1268058511Jul 18, 2024
LOC1268059161Jul 18, 2024
LOC1268060391Jul 18, 2024
LOC1268060682Jul 18, 2024
LOC1268062111Jul 18, 2024
LOC1268064621Jul 18, 2024
LOC1268064961Jul 18, 2024
LOC1268064981Jul 18, 2024
LOC1268066081Jul 18, 2024
LOC1268066582Jul 18, 2024
LOC1268066595Jul 18, 2024
LOC1268067101Dec 21, 2022
LOC1268067142Jul 18, 2024
LOC1268068782Jul 18, 2024
LOC1268070111Dec 21, 2022
LOC1268071361Dec 21, 2022
LOC1268596461Dec 21, 2022
LOC1268596905Jul 18, 2024
LOC1268597961Dec 21, 2022
LOC1268598271Dec 21, 2022
LOC1268598711Dec 21, 2022
LOC1268599621Jul 18, 2024
LOC1268600552Dec 21, 2022
LOC1268600751Dec 21, 2022
LOC1268601243Jul 18, 2024
LOC1268604981Jul 18, 2024
LOC1268608021Jul 18, 2024
LOC1268612421Dec 21, 2022
LOC1268613561Dec 21, 2022
LOC1268613651Dec 21, 2022
LOC1268614431Jul 18, 2024
LOC1268614521Jul 18, 2024
LOC1268614801Jul 18, 2024
LOC1268616641Dec 21, 2022
LOC1268618881Dec 21, 2022
LOC1268618971Dec 21, 2022
LOC1268618981Dec 21, 2022
LOC1268620471Dec 21, 2022
LOC1268623613Jul 18, 2024
LOC1268624791Jul 18, 2024
LOC1268625493Dec 21, 2022
LOC1268625862Jul 18, 2024
LOC1268627571Jul 18, 2024
LOC1268628531Jul 18, 2024
LOC1268628661Dec 21, 2022
LOC1268629871Dec 21, 2022
LOC1268631373Jul 18, 2024
LOC1268631601Jul 18, 2024
LOC1268632391Jul 18, 2024
LOC1268632531Jul 18, 2024
LOC1268632582Jul 18, 2024
LOC1268632741Jul 18, 2024
LOC1278142972Dec 21, 2022
LOC1299298372Jul 18, 2024
LOC1299300681Jul 18, 2024
LOC1299332901Dec 21, 2022
LOC1299355941Dec 21, 2022
LOC1299360311Dec 21, 2022
LOC1299364341Dec 21, 2022
LOC1299367361Dec 21, 2022
LOC1299367381Jul 18, 2024
LOC1299928133Jul 18, 2024
LOC1299928761Dec 21, 2022
LOC1299944602Jul 18, 2024
LOC1299948261Aug 3, 2022
LOC1299954001Dec 21, 2022
LOC1299958042Jul 18, 2024
LOC1299960271Jul 18, 2024
LOC1299969101Jul 18, 2024
LOC1299980051Dec 21, 2022
LOC1299982921Jul 18, 2024
LOC1299988331Dec 21, 2022
LOC1299990561Dec 21, 2022
LOC1299996601Jul 18, 2024
LOC1299997351Jul 18, 2024
LOC1299999071Dec 21, 2022
LOC1300009621Dec 21, 2022
LOC1300026512Jul 18, 2024
LOC1300050971Jul 18, 2024
LOC1300051191Jul 18, 2024
LOC1300051931Jul 18, 2024
LOC1300053682Jul 18, 2024
LOC1300054041Dec 21, 2022
LOC1300078721Dec 21, 2022
LOC1300094161Dec 21, 2022
LOC1300565021Dec 21, 2022
LOC1300572221Dec 21, 2022
LOC1300573631Jul 18, 2024
LOC1300578891Jul 18, 2024
LOC1300581731Dec 21, 2022
LOC1300582031Dec 21, 2022
LOC1300583841Oct 1, 2019
LOC1300586201Dec 21, 2022
LOC1300589301Jul 18, 2024
LOC1300595551Jul 18, 2024
LOC1300614961Dec 21, 2022
LOC1300623851Dec 21, 2022
LOC1300625601Jul 18, 2024
LOC1300642791Dec 21, 2022
LOC1300678621Jul 18, 2024
LOC1300682021Dec 21, 2022
LOC1300687961Apr 4, 2023
LONP11Jul 18, 2024
LORICRIN1Dec 21, 2022
LOX1Jul 18, 2024
LOXHD15Jul 18, 2024
LPAR61Jul 18, 2024
LRBA1Dec 21, 2022
LRIT31Jul 18, 2024
LRP51Jul 18, 2024
LRP61Dec 21, 2022
LRPPRC3Jul 18, 2024
LRRC37A21Jul 18, 2024
LRRC511Jul 18, 2024
LRRC531Dec 21, 2022
LRRC565Jul 18, 2024
LRRK22Jul 18, 2024
LRTOMT2Jul 18, 2024
LSS3Jul 18, 2024
LTBP41Dec 21, 2022
LZTR19Jul 18, 2024
MACF11Jul 18, 2024
MADD2Jul 18, 2024
MAF2Jul 18, 2024
MAGED21Dec 21, 2022
MAGI21Dec 21, 2022
MALT11Jul 18, 2024
MAMLD11Dec 21, 2022
MAN1B12Jul 18, 2024
MAN2B12Jul 18, 2024
MAN2C12Jul 18, 2024
MANBA2Dec 21, 2022
MAP1B3Jul 18, 2024
MAP2K11Dec 21, 2022
MAP3K13Jul 18, 2024
MAP3K71Dec 21, 2022
MAPK11Jul 18, 2024
MAPK8IP35Dec 21, 2022
MAPKAPK51Jul 18, 2024
MAPKBP11Dec 21, 2022
MAPT2Jul 18, 2024
MARS21Jul 18, 2024
MARVELD21Dec 21, 2022
MAST14Jul 18, 2024
MAST33Jul 18, 2024
MBD43Jul 18, 2024
MBD55Jul 18, 2024
MBOAT72Jul 18, 2024
MCCC21Jul 18, 2024
MCM3AP2Dec 21, 2022
MCM92Jul 18, 2024
MCPH14Dec 21, 2022
MEA13Jul 18, 2024
MECOM3Jul 18, 2024
MECP25Jul 18, 2024
MECR1Jul 18, 2024
MED125Jul 18, 2024
MED12L1Dec 21, 2022
MED132Jul 18, 2024
MED13L21Jul 18, 2024
MED231Jul 18, 2024
MED251Jul 18, 2024
MEF2C3Dec 21, 2022
MEIS25Jul 18, 2024
MEN12Jul 18, 2024
MESP11Jul 18, 2024
METTL233Dec 21, 2022
METTL51Dec 21, 2022
MFAP51Jul 18, 2024
MFF-DT8Aug 30, 2020
MFSD2A3Jul 18, 2024
MFSD84Jul 18, 2024
MHRT2Jul 18, 2024
MIB11Jul 18, 2024
MICU11Jul 18, 2024
MID11Dec 21, 2022
MIP1Dec 21, 2022
MIPEP1Dec 21, 2022
MIR12252Jul 18, 2024
MIR39111Dec 21, 2022
MIR50041Dec 21, 2022
MIR97181Dec 21, 2022
MITD12Dec 21, 2022
MITF1Aug 15, 2019
MLC12Jul 18, 2024
MLYCD3Jul 18, 2024
MMAB2Jul 18, 2024
MMACHC3Jul 18, 2024
MMP202Jul 18, 2024
MMP20-AS11Jul 18, 2024
MN14Jul 18, 2024
MNX13Jul 18, 2024
MNX1-AS21Dec 21, 2022
MOCS12Dec 21, 2022
MOGS1Jul 18, 2024
MORC23Jul 18, 2024
MPDZ2Dec 21, 2022
MPEG11Jul 18, 2024
MPL2Apr 4, 2023
MRAS1Jul 18, 2024
MRPL392Dec 21, 2022
MRPS221Dec 21, 2022
MRPS341Dec 21, 2022
MSH61Jul 18, 2024
MSL33Jul 18, 2024
MSX21Jul 18, 2024
MT-ND41Apr 4, 2023
MT-TL11Apr 4, 2023
MT-TL21Apr 4, 2023
MTHFR6Jul 18, 2024
MTM16Jul 18, 2024
MTMR103Dec 21, 2022
MTO11Jul 18, 2024
MTOR11Jul 18, 2024
MTPAP2Dec 21, 2022
MTRFR1Dec 21, 2022
MVK3Jul 18, 2024
MVP-DT6Jul 18, 2024
MYBPC31Jul 30, 2024
MYCN3Apr 4, 2023
MYCNOS2Dec 21, 2022
MYH111Dec 21, 2022
MYH142Jul 18, 2024
MYH21Apr 4, 2023
MYH613Jul 18, 2024
MYH77Jul 18, 2024
MYH83Jul 18, 2024
MYH913Jul 18, 2024
MYHAS4Jul 18, 2024
MYL22Jul 18, 2024
MYLK4Jul 18, 2024
MYLK21Dec 21, 2022
MYMK2Dec 21, 2022
MYO15A13Dec 21, 2022
MYO193Jul 18, 2024
MYO3A1Dec 21, 2022
MYO5B2Jul 18, 2024
MYO7A3Aug 15, 2019
MYO9A1Dec 21, 2022
MYOC1Jul 18, 2024
MYOM14Dec 21, 2022
MYORG3Dec 21, 2022
MYPN1Dec 21, 2022
MYRF1Dec 21, 2022
MYSM11Dec 21, 2022
MYT1L10Jul 18, 2024
NAA153Jul 18, 2024
NADSYN11Jul 18, 2024
NAGA2Jul 18, 2024
NALCN1Nov 1, 2016
NARS21Jul 18, 2024
NAXD2Jul 18, 2024
NBAS5Jul 18, 2024
NBEA10Jul 18, 2024
NCAPG21Dec 21, 2022
NCDN1Dec 21, 2022
NCKAP12Dec 21, 2022
NDE12Dec 21, 2022
NDNF1Jul 18, 2024
NDP2Dec 21, 2022
NDP-AS12Dec 21, 2022
NDUFA102Dec 21, 2022
NDUFA111Jul 18, 2024
NDUFA132Jul 18, 2024
NDUFA41Jul 18, 2024
NDUFA93Dec 21, 2022
NDUFAF11Jul 18, 2024
NDUFAF21Jul 18, 2024
NDUFAF51Oct 1, 2019
NDUFAF64Jul 18, 2024
NDUFAF81Dec 21, 2022
NDUFB111Jul 18, 2024
NDUFB31Jul 18, 2024
NDUFS14Jul 18, 2024
NDUFS21Jul 18, 2024
NDUFS41Jul 18, 2024
NDUFS72Dec 21, 2022
NDUFS82Jul 18, 2024
NDUFV12Dec 21, 2022
NDUFV21Dec 21, 2022
NDUFV2-AS11Dec 21, 2022
NEB11Jul 18, 2024
NEBL4Jul 18, 2024
NEFH1Dec 21, 2022
NEIL12Jul 18, 2024
NEU12Dec 21, 2022
NEUROD22Dec 21, 2022
NEXMIF3Jul 18, 2024
NEXN5Jul 18, 2024
NF123Jul 18, 2024
NF22Jul 18, 2024
NFASC1Dec 21, 2022
NFE2L21Dec 21, 2022
NFIA6Jul 18, 2024
NFIB6Jul 18, 2024
NFIX3Jul 18, 2024
NFKB13Jul 18, 2024
NGLY13Jul 18, 2024
NHS1Dec 21, 2022
NICN11Jul 18, 2024
NIPA11Dec 21, 2022
NIPAL41Dec 21, 2022
NIPBL19Jul 18, 2024
NKAP1Jul 18, 2024
NKIRAS11Oct 1, 2019
NKX2-11Dec 21, 2022
NKX2-52Jul 18, 2024
NLGN4X1Jul 18, 2024
NLRP31Dec 21, 2022
NOC3L1Jul 18, 2024
NODAL3Jul 18, 2024
NONO2Jul 18, 2024
NOTCH13Dec 21, 2022
NOTCH27Jul 18, 2024
NOTCH313Jul 18, 2024
NPC115Jul 18, 2024
NPHP13Jul 18, 2024
NPHP35Jul 18, 2024
NPHP3-ACAD117Jul 18, 2024
NPHP42Dec 21, 2022
NPHS114Jul 18, 2024
NPHS26Jul 18, 2024
NPRL21Jul 18, 2024
NPRL34Jul 18, 2024
NR0B13Dec 21, 2022
NR2F18Jul 18, 2024
NR2F1-AS17Jul 18, 2024
NR2F22Dec 21, 2022
NR3C21Jul 18, 2024
NR5A16Jul 18, 2024
NRAP1Jul 18, 2024
NRAS4Jul 18, 2024
NRROS1Jul 18, 2024
NSD113Apr 4, 2023
NSD25Jul 18, 2024
NSF1Jul 18, 2024
NSUN61Dec 21, 2022
NT5DC13Jul 18, 2024
NT5E1Dec 21, 2022
NTNG21Jul 18, 2024
NTRK22Jul 18, 2024
NUBPL1Dec 21, 2022
NUP1882Jul 18, 2024
NUP2142Jul 18, 2024
NUS15Jul 18, 2024
OAT2Jul 18, 2024
OBI1-AS11Jul 18, 2024
OCA210Jul 18, 2024
OCRL4Jul 18, 2024
ODC11Jul 18, 2024
OFD12Jul 18, 2024
OGT2Jul 18, 2024
OPHN11Jul 18, 2024
OPLAH2Jul 18, 2024
OSGEP2Jul 18, 2024
OSTM11Jul 18, 2024
OTC5Jul 18, 2024
OTOA3Jul 18, 2024
OTOF7Jul 18, 2024
OTOG7Jul 18, 2024
OTOGL1Jul 18, 2024
OTUD51Jul 18, 2024
OTX21Dec 21, 2022
OXR11Dec 21, 2022
P2RY121Dec 21, 2022
P3H12Dec 21, 2022
PACS12Dec 21, 2022
PAH12Jul 18, 2024
PAK11Dec 21, 2022
PAK31Jul 18, 2024
PARS24Jul 18, 2024
PAX12Dec 21, 2022
PAX21Jul 18, 2024
PAX41Jul 18, 2024
PAX63Jul 18, 2024
PAX91Jul 18, 2024
PBX11Dec 21, 2022
PCCA3Jul 18, 2024
PCDH125Jul 18, 2024
PCDH198Jul 18, 2024
PCLO1Jul 18, 2024
PCNT1Dec 21, 2022
PCSK91Dec 21, 2022
PCYT1A1Dec 21, 2022
PDE6A3Jul 18, 2024
PDGFB1Dec 21, 2022
PDGFRB1Dec 21, 2022
PDHA111Jul 18, 2024
PDSS11Jul 18, 2024
PDYN1Dec 21, 2022
PDYN-AS11Dec 21, 2022
PDZD76Jul 18, 2024
PDZD81Jul 18, 2024
PEX18Jul 18, 2024
PEX101Dec 21, 2022
PEX11B1Dec 21, 2022
PEX161Dec 21, 2022
PEX51Jul 18, 2024
PEX71Dec 21, 2022
PFN12Jul 18, 2024
PGAP21Dec 21, 2022
PGAP32Dec 21, 2022
PGGHG1Jul 18, 2024
PGK13Jul 18, 2024
PHACTR12Jul 18, 2024
PHEX4Jul 18, 2024
PHF21A1Dec 21, 2022
PHF32Dec 21, 2022
PHF62Jul 18, 2024
PHF83Jul 18, 2024
PHGDH1Jul 18, 2024
PHIP5Jul 18, 2024
PHKA11Dec 21, 2022
PHKA21Jul 18, 2024
PHKA2-AS11Jul 18, 2024
PHKB1Jul 18, 2024
PHOX2B2Jul 18, 2024
PI4KA4Jul 18, 2024
PIDD12Jul 18, 2024
PIEZO11Apr 4, 2023
PIEZO21Jul 18, 2024
PIGA3Jul 18, 2024
PIGC2Jul 18, 2024
PIGG8Jul 18, 2024
PIGN4Jul 18, 2024
PIGO1Dec 21, 2022
PIGT1Jul 18, 2024
PIGV1Dec 21, 2022
PIGW3Jul 18, 2024
PIH1D21Jul 18, 2024
PIK3CA5Jul 18, 2024
PIK3R21Dec 21, 2022
PINK11Jul 18, 2024
PINK1-AS1Jul 18, 2024
PITPNM32Jul 18, 2024
PITX11Dec 21, 2022
PITX21Apr 4, 2023
PKD1211Jul 18, 2024
PKD1-AS123Jul 18, 2024
PKD1L12Dec 21, 2022
PKD234Jul 18, 2024
PKHD172Jul 18, 2024
PKP215Jul 18, 2024
PLA2G64Jul 18, 2024
PLAA1Dec 21, 2022
PLCB11Jul 18, 2024
PLCE13Jul 18, 2024
PLCE1-AS21Dec 21, 2022
PLN1Jul 18, 2024
PLOD31Dec 21, 2022
PLP12Jul 18, 2024
PLPBP4Jul 18, 2024
PLS11Jul 18, 2024
PLS32Jul 18, 2024
PMM210Jul 18, 2024
PMPCB3Dec 21, 2022
PMS21Jul 18, 2024
PNKD1Dec 21, 2022
PNKP3Jul 18, 2024
PNP1Jul 18, 2024
PNPLA23Jul 18, 2024
PNPLA63Jul 18, 2024
PNPLA83Dec 21, 2022
PNPO1Jul 18, 2024
PNPT15Dec 21, 2022
POC1A1Dec 21, 2022
POC1B1Dec 21, 2022
POGZ4Jul 18, 2024
POLA13Jul 18, 2024
POLD11Dec 21, 2022
POLE2Dec 21, 2022
POLG3Apr 4, 2023
POLGARF3Apr 4, 2023
POLR1A3Jul 18, 2024
POLR1B1Dec 21, 2022
POLR1C6Jul 18, 2024
POLR2A1Dec 21, 2022
POLR3A5Jul 18, 2024
POMGNT14Jul 18, 2024
POMK1Dec 21, 2022
POMT15Jul 18, 2024
POR3Jul 18, 2024
PORCN1Jul 18, 2024
POU3F42Jul 18, 2024
POU4F11Jul 18, 2024
POU4F32Dec 21, 2022
PPA26Jul 18, 2024
PPFIBP11Jul 18, 2024
PPIP5K21Jul 18, 2024
PPM1D2Jul 18, 2024
PPOX3Jul 18, 2024
PPP1CB2Jul 18, 2024
PPP1R12A2Dec 21, 2022
PPP1R13L1Jul 18, 2024
PPP1R211Oct 1, 2019
PPP2CA2Jul 18, 2024
PPP2R1A1Jul 18, 2024
PPP2R5D5Jul 18, 2024
PPP3CA1Dec 21, 2022
PPT14Jul 18, 2024
PQBP11Jul 18, 2024
PRDM163Jul 18, 2024
PRF13Jul 18, 2024
PRKACB1Dec 21, 2022
PRKAG23Jul 18, 2024
PRKAR1A1Dec 21, 2022
PRKCG1Jul 18, 2024
PRKCSH2Jul 18, 2024
PRKD12Dec 21, 2022
PRKDC1Dec 21, 2022
PRKG11Jul 18, 2024
PRKN3Jul 18, 2024
PRMT72Jul 18, 2024
PROKR22Apr 4, 2023
PROS11Apr 4, 2023
PRPF312Dec 21, 2022
PRPF31-AS11Dec 21, 2022
PRPF42Dec 21, 2022
PRPF81Dec 21, 2022
PRPS11Dec 21, 2022
PRR123Jul 18, 2024
PRRT26Jul 18, 2024
PRX1Dec 21, 2022
PSAT12Dec 21, 2022
PSEN14Jul 18, 2024
PSEN21Jul 18, 2024
PSMD121Jul 18, 2024
PSTPIP11Dec 21, 2022
PTCH17Jul 18, 2024
PTCHD11Jul 18, 2024
PTCHD1-AS3Jul 18, 2024
PTEN20Jul 18, 2024
PTF1A1Apr 4, 2023
PTPN1132Jul 18, 2024
PTPN234Jul 18, 2024
PTPN42Jul 18, 2024
PUF6010Jul 18, 2024
PUM11Jul 18, 2024
PURA8Jul 18, 2024
PUS33Jul 18, 2024
PUS71Jul 18, 2024
PYGM4Dec 21, 2022
QARS12Dec 21, 2022
QRICH14Jul 18, 2024
QRSL11Jul 18, 2024
RAB11B3Jul 18, 2024
RAB231Jul 18, 2024
RAB33A2Dec 21, 2022
RAB3GAP24Dec 21, 2022
RAB9B2Jul 18, 2024
RAC11Jul 18, 2024
RAC31Dec 21, 2022
RAD211Dec 21, 2022
RAD512Jul 18, 2024
RAD51C1Jul 18, 2024
RAD51D1Dec 21, 2022
RAD51L3-RFFL1Dec 21, 2022
RAF111Jul 18, 2024
RAG22Jul 18, 2024
RAI13Jul 18, 2024
RALA2Jul 18, 2024
RANBP22Jul 18, 2024
RAPSN3Jul 18, 2024
RARB1Oct 1, 2019
RARS13Jul 18, 2024
RARS25Jul 18, 2024
RASA17Jul 18, 2024
RB13Jul 18, 2024
RBBP82Jul 18, 2024
RBFOX21Dec 21, 2022
RBM106Jul 18, 2024
RBM2011Jul 18, 2024
RBM8A1Jul 18, 2024
RBPJ1Dec 21, 2022
RDH51Dec 21, 2022
RECQL44Dec 21, 2022
REEP11Jul 18, 2024
RERE12Jul 18, 2024
RET5Jul 18, 2024
RFT12Jul 18, 2024
RHOBTB23Jul 18, 2024
RIC12Jul 18, 2024
RIF16Jul 18, 2024
RIMS11Dec 21, 2022
RIT18Jul 18, 2024
RLIG11Jul 18, 2024
RLIM2Jul 18, 2024
RMRP4Jul 18, 2024
RNASEH2A2Dec 21, 2022
RNASEH2B1Jul 18, 2024
RNASEH2C3Jul 18, 2024
RNF1251Dec 21, 2022
RNF131Dec 21, 2022
RNF145Jul 18, 2024
RNF2131Oct 1, 2019
RNF213-AS11Oct 1, 2019
RNF2161Dec 21, 2022
RNF2201Jul 18, 2024
RNU4ATAC5Jul 18, 2024
ROBO33Dec 21, 2022
ROBO42Dec 21, 2022
RORB1Jul 18, 2024
RP21Dec 21, 2022
RPGR1Jul 18, 2024
RPGRIP13Jul 18, 2024
RPGRIP1L5Jul 18, 2024
RPL151Oct 1, 2019
RPL36A-HNRNPH27Dec 21, 2022
RPL3L2Jul 18, 2024
RPL54Jul 18, 2024
RPS192Jul 18, 2024
RPS262Jul 18, 2024
RPS6KA34Jul 18, 2024
RPS71Jul 18, 2024
RRAS1Dec 21, 2022
RRAS22Jul 18, 2024
RS12Dec 21, 2022
RSPH4A1Dec 21, 2022
RTN4IP11Jul 18, 2024
RTTN7Jul 18, 2024
RUNX11Jul 18, 2024
RUNX1-AS11Jul 18, 2024
RUNX22Jul 18, 2024
RXYLT11Dec 21, 2022
RYR11Jun 18, 2024
RYR230Jul 18, 2024
SACS4Jul 18, 2024
SAG1Jul 18, 2024
SALL14Jul 18, 2024
SALL42Jul 18, 2024
SAMD96Jul 18, 2024
SAMD9L2Jul 18, 2024
SAMHD12Jul 18, 2024
SAR1B1Jul 18, 2024
SARM12Jul 18, 2024
SASH32Jul 18, 2024
SATB12Jul 18, 2024
SATB28Jul 18, 2024
SBDS3Jul 18, 2024
SBF12Jul 18, 2024
SCAF42Jul 18, 2024
SCAMP41Jul 18, 2024
SCN11A2Dec 21, 2022
SCN1A20Jul 18, 2024
SCN1A-AS11Jul 18, 2024
SCN1B1Dec 21, 2022
SCN2A15Jul 18, 2024
SCN3A4Jul 18, 2024
SCN4B1Dec 21, 2022
SCN5A5Apr 4, 2023
SCN8A11Jul 18, 2024
SCN9A1Jul 18, 2024
SCNN1A1Jul 18, 2024
SCO11Jul 18, 2024
SCO22Jul 18, 2024
SCYL11Jul 18, 2024
SDCCAG81Jul 18, 2024
SDHA2Aug 30, 2020
SDHAF12Dec 21, 2022
SEC23B3Jul 18, 2024
SEC61A11Dec 21, 2022
SEC636Jul 18, 2024
SEMA4A1Jul 18, 2024
SEMA6B1Jul 18, 2024
SERPINA14Jul 18, 2024
SET1Jul 18, 2024
SETBP19Jul 18, 2024
SETD1A1Dec 21, 2022
SETD1B8Jul 18, 2024
SETD210Jul 18, 2024
SETD513Jul 18, 2024
SF3B21Jul 18, 2024
SFTA31Dec 21, 2022
SFTPC1Jul 18, 2024
SGPL12Jul 18, 2024
SGSH4Jul 18, 2024
SH2B31Dec 21, 2022
SH2D1A1Dec 21, 2022
SHANK24Jul 18, 2024
SHANK32Jul 18, 2024
SHH4Jul 18, 2024
SHOC22Jul 18, 2024
SHQ11Jul 18, 2024
SHROOM41Jul 18, 2024
SIGMAR12Jul 18, 2024
SIM11Jul 18, 2024
SIN3A6Jul 18, 2024
SIX11Dec 21, 2022
SIX61Jul 18, 2024
SKI5Jul 18, 2024
SKIC21Dec 21, 2022
SKIC31Dec 21, 2022
SLC12A13Jul 18, 2024
SLC12A326Jul 18, 2024
SLC16A23Jul 18, 2024
SLC17A52Dec 21, 2022
SLC18A21Jul 18, 2024
SLC19A32Nov 1, 2016
SLC1A31Dec 21, 2022
SLC20A25Jul 18, 2024
SLC22A52Jul 18, 2024
SLC25A121Dec 21, 2022
SLC25A132Dec 21, 2022
SLC25A241Jul 18, 2024
SLC26A421Jul 18, 2024
SLC26A4-AS11Jul 18, 2024
SLC27A42Jul 18, 2024
SLC29A32Jul 18, 2024
SLC2A13Jul 18, 2024
SLC2A103Jul 18, 2024
SLC30A21Dec 21, 2022
SLC34A11Aug 30, 2020
SLC34A34Jul 18, 2024
SLC35A21Dec 21, 2022
SLC35D2-HSD17B33Jul 18, 2024
SLC37A42Jul 18, 2024
SLC39A131Jul 18, 2024
SLC39A42Jul 18, 2024
SLC39A81Dec 21, 2022
SLC3A11Apr 4, 2023
SLC45A22Jul 18, 2024
SLC46A12Jul 18, 2024
SLC4A11Apr 4, 2023
SLC4A31Jul 18, 2024
SLC52A24Dec 21, 2022
SLC52A31Dec 21, 2022
SLC5A62Dec 21, 2022
SLC6A17Jul 18, 2024
SLC6A1-AS11Dec 21, 2022
SLC6A52Jul 18, 2024
SLC6A82Jul 18, 2024
SLC6A91Jul 18, 2024
SLX42Dec 21, 2022
SMAD22Jul 18, 2024
SMAD310Jul 18, 2024
SMAD46Jul 18, 2024
SMAD63Jul 18, 2024
SMARCA210Jul 18, 2024
SMARCA44Jul 18, 2024
SMARCAL12Dec 21, 2022
SMARCB12Jul 18, 2024
SMARCD12Dec 21, 2022
SMARCE11Jul 18, 2024
SMC1A6Jul 18, 2024
SMC31Dec 21, 2022
SMCHD11Dec 21, 2022
SMN15Jul 18, 2024
SMN21Dec 21, 2022
SMO1Dec 21, 2022
SMPD11Jul 18, 2024
SMPD43Dec 21, 2022
SMS1Jul 18, 2024
SNAP251Jul 18, 2024
SNCA1Jul 18, 2024
SNHG222Jul 18, 2024
SNHG311Dec 21, 2022
SNRPB1Jul 18, 2024
SON11Jul 18, 2024
SORD2Jul 18, 2024
SOS18Jul 18, 2024
SOS24Jul 18, 2024
SOX112Dec 21, 2022
SOX32Jul 18, 2024
SOX42Jul 18, 2024
SOX53Jul 18, 2024
SOX63Jul 18, 2024
SOX92Jul 18, 2024
SP1101Jul 18, 2024
SP1401Jul 18, 2024
SPAST17Jul 18, 2024
SPATA221Jul 18, 2024
SPATA72Dec 21, 2022
SPEG1Dec 21, 2022
SPEN5Jul 18, 2024
SPG1115Jul 18, 2024
SPG211Jul 18, 2024
SPG71Dec 21, 2022
SPINK54Jul 18, 2024
SPINT21Jul 18, 2024
SPRED14Jul 18, 2024
SPTAN16Jul 18, 2024
SPTB2Oct 1, 2019
SPTBN17Jul 18, 2024
SPTBN44Jul 18, 2024
SPTLC11Jul 18, 2024
SPTLC21Jul 18, 2024
SRCAP4Jul 18, 2024
SRD5A25Jul 18, 2024
SRD5A32Jul 18, 2024
SRD5A3-AS12Jul 18, 2024
SRFBP11Jul 18, 2024
SRP541Jul 18, 2024
SRPX21Jul 18, 2024
SSR42Dec 21, 2022
STAG14Jul 18, 2024
STAG21Dec 21, 2022
STAT11Nov 1, 2016
STRC3Jul 18, 2024
STX111Dec 21, 2022
STXBP114Jul 18, 2024
SUCLG11Dec 21, 2022
SUPT16H2Jul 18, 2024
SURF12Jul 18, 2024
SUZ121Jul 18, 2024
SYNE21Dec 21, 2022
SYNGAP114Jul 18, 2024
SYNGAP1-AS111Jul 18, 2024
SYP1Jul 18, 2024
SZT27Jul 18, 2024
SZT2-AS11Dec 21, 2022
TAB24Jul 18, 2024
TAF13Jul 18, 2024
TAF23Dec 21, 2022
TAFAZZIN5Apr 4, 2023
TANC25Jul 18, 2024
TANGO24Jul 18, 2024
TAOK14Jul 18, 2024
TAPBPL1Dec 21, 2022
TARID1Dec 21, 2022
TARS22Dec 21, 2022
TBC1D11Aug 3, 2022
TBC1D244Jul 18, 2024
TBC1D321Jul 18, 2024
TBC1D7-LOC1001303572Jul 18, 2024
TBCD8Jul 18, 2024
TBCE1Dec 21, 2022
TBCEL-TECTA3Dec 21, 2022
TBCK2Jul 18, 2024
TBK12Jul 18, 2024
TBL1XR15Jul 18, 2024
TBL1XR1-AS12Jul 18, 2024
TBR12Jul 18, 2024
TBX11Jul 18, 2024
TBX191Jul 18, 2024
TBX201Jul 18, 2024
TBX56Jul 18, 2024
TCF123Jul 18, 2024
TCF206Jul 18, 2024
TCF412Jul 18, 2024
TCIRG13Jul 18, 2024
TCOF17Jul 18, 2024
TCTN12Dec 21, 2022
TCTN33Dec 21, 2022
TECRL6Jul 18, 2024
TECTA3Dec 21, 2022
TELO22Jul 18, 2024
TENM33Jul 18, 2024
TET21Jul 18, 2024
TET2-AS11Jul 18, 2024
TFAP2A1Dec 21, 2022
TFAP2B1Dec 21, 2022
TFR21Dec 21, 2022
TGFB11Jul 18, 2024
TGFB24Jul 18, 2024
TGFB31Jul 18, 2024
TGFBR110Jul 18, 2024
TGFBR23Jul 18, 2024
TGIF11Dec 21, 2022
TGM13Jul 18, 2024
TGM54Jul 18, 2024
TH2Jul 18, 2024
THAP12Jul 18, 2024
THOC22Jul 18, 2024
THOC64Jul 18, 2024
THRA1Jul 18, 2024
THSD43Jul 18, 2024
THUMPD11Jul 18, 2024
TINF23Jul 18, 2024
TJP22Jul 18, 2024
TK22Dec 21, 2022
TLK25Jul 18, 2024
TLL12Dec 21, 2022
TMEM106B1Dec 21, 2022
TMEM1381Dec 21, 2022
TMEM2372Jul 18, 2024
TMEM2401Dec 21, 2022
TMEM2601Dec 21, 2022
TMEM4313Jul 18, 2024
TMEM63A1Jul 18, 2024
TMEM673Jul 18, 2024
TMPPE1Dec 21, 2022
TMPRSS36Jul 18, 2024
TMX2-CTNND12Jul 18, 2024
TNC1Dec 21, 2022
TNFRSF1A1Dec 21, 2022
TNK21Dec 21, 2022
TNNI21Dec 21, 2022
TNNI33Dec 21, 2022
TNNI3K3Jul 18, 2024
TNNT223Jul 18, 2024
TNPO31Dec 21, 2022
TNR2Dec 21, 2022
TNRC6B6Jul 18, 2024
TNS21Jul 18, 2024
TNXB5Jul 18, 2024
TOE12Jul 18, 2024
TOMT1Dec 21, 2022
TONSL2Dec 21, 2022
TOP3A4Jul 18, 2024
TOPORS1Dec 21, 2022
TP53BP11Jul 18, 2024
TP53RK2Jul 18, 2024
TP631Jul 18, 2024
TPM110Jul 18, 2024
TPM1-AS1Dec 21, 2022
TPO1Dec 21, 2022
TPP14Jul 18, 2024
TPP21Jul 18, 2024
TPRN1Dec 21, 2022
TRAF73Jul 18, 2024
TRAPPC124Jul 18, 2024
TRAPPC2L1Jul 18, 2024
TRAPPC41Dec 21, 2022
TRAPPC6B1Dec 21, 2022
TRAPPC95Jul 18, 2024
TRDN4Jul 18, 2024
TREX12Nov 1, 2016
TRIM633Dec 21, 2022
TRIM82Jul 18, 2024
TRIO16Jul 18, 2024
TRIOBP3Jul 18, 2024
TRIP111Dec 21, 2022
TRIP127Jul 18, 2024
TRIP132Dec 21, 2022
TRIT11Jul 18, 2024
TRPC61Jul 18, 2024
TRPM34Jul 18, 2024
TRPM41Jul 18, 2024
TRPM61Jul 18, 2024
TRPS15Jul 18, 2024
TRPV41Jul 18, 2024
TRRAP16Jul 18, 2024
TSC16Jul 18, 2024
TSC212Jul 18, 2024
TSEN541Jul 18, 2024
TSFM3Jul 18, 2024
TSPAN14Jul 18, 2024
TSPAN121Jul 18, 2024
TSPEAR3Jul 18, 2024
TSPEAR-AS11Dec 21, 2022
TSPOAP11Jul 18, 2024
TTC21B1Dec 21, 2022
TTC36-AS11Dec 21, 2022
TTC7A6Jul 18, 2024
TTI21Jul 18, 2024
TTN1Nov 9, 2017
TTN-AS11Nov 9, 2017
TTR1Aug 3, 2022
TUBA1A10Jul 18, 2024
TUBB2Jul 18, 2024
TUBB2A1Jul 18, 2024
TUBB2B1Jul 18, 2024
TUBB36Jul 18, 2024
TUBB4A2Jul 18, 2024
TUBGCP41Jul 18, 2024
TUBGCP66Jul 18, 2024
TUSC31Jul 18, 2024
TWIST13Jul 18, 2024
TXNDC151Dec 21, 2022
TYMP4Jul 18, 2024
TYR6Jul 18, 2024
UBA11Jul 18, 2024
UBA21Jul 18, 2024
UBA52Jul 18, 2024
UBE2A2Jul 18, 2024
UBE3B2Dec 21, 2022
UBQLN22Jul 18, 2024
UBR11Dec 21, 2022
UBTF1Dec 21, 2022
UCHL11Dec 21, 2022
UGDH2Jul 18, 2024
UGP21Jul 18, 2024
UMOD11Jul 18, 2024
UNC806Jul 18, 2024
UPF11Dec 21, 2022
UPF3B5Jul 18, 2024
UROS1Dec 21, 2022
USB11Dec 21, 2022
USH1C6Jul 18, 2024
USH2A26Jul 18, 2024
USH2A-AS13Dec 21, 2022
USH2A-AS23Jul 18, 2024
USP27X1Dec 21, 2022
USP532Dec 21, 2022
USP73Jul 18, 2024
USP9X3Jul 18, 2024
VAC141Dec 21, 2022
VAMP11Dec 21, 2022
VARS24Jul 18, 2024
VCAN2Jul 18, 2024
VCAN-AS11Jul 18, 2024
VCL8Jul 18, 2024
VCP1Dec 21, 2022
VEGFC1Dec 21, 2022
VIM1Jul 18, 2024
VIM-AS11Jul 18, 2024
VIPAS391Dec 21, 2022
VLDLR1Jul 18, 2024
VMA211Jul 18, 2024
VPS112Dec 21, 2022
VPS13B10Jul 18, 2024
VPS13C2Dec 21, 2022
VPS13D6Jul 18, 2024
VPS37A1Dec 21, 2022
VWA11Jul 18, 2024
VWF1Apr 4, 2023
WAC2Jul 18, 2024
WARS21Dec 21, 2022
WAS3Jul 18, 2024
WASF12Jul 18, 2024
WASHC52Jul 18, 2024
WDFY37Jul 18, 2024
WDPCP2Jul 18, 2024
WDR112Dec 21, 2022
WDR262Jul 18, 2024
WDR352Dec 21, 2022
WDR371Dec 21, 2022
WDR41Dec 21, 2022
WDR452Jul 18, 2024
WDR627Jul 18, 2024
WDR813Jul 18, 2024
WNK31Jul 18, 2024
WNT7A1Jul 18, 2024
WT14Jul 18, 2024
WWOX3Jul 18, 2024
XDH1Jul 18, 2024
XPA2Dec 21, 2022
YARS21Apr 4, 2023
YWHAG1Jul 18, 2024
YY11Jul 18, 2024
YY1AP11Jul 18, 2024
ZBTB186Jul 18, 2024
ZBTB202Dec 21, 2022
ZBTB241Dec 21, 2022
ZBTB7A2Jul 18, 2024
ZC4H23Jul 18, 2024
ZDHHC241Jul 18, 2024
ZDHHC92Jul 18, 2024
ZEB25Jul 18, 2024
ZFHX36Dec 21, 2022
ZFHX3-AS15Dec 21, 2022
ZFHX43Jul 18, 2024
ZFYVE268Jul 18, 2024
ZIC22Jul 18, 2024
ZIC34Jul 18, 2024
ZMIZ14Jul 18, 2024
ZMPSTE242Jul 18, 2024
ZMYM31Jul 18, 2024
ZMYND101Dec 21, 2022
ZMYND111Jul 18, 2024
ZNF1422Jul 18, 2024
ZNF1481Jul 18, 2024
ZNF2761Jul 18, 2024
ZNF2929Jul 18, 2024
ZNF3355Jul 18, 2024
ZNF4626Jul 18, 2024
ZNF4691Dec 21, 2022
ZNF6871Jul 18, 2024
ZNF6991Jul 18, 2024
ZNF7111Jul 18, 2024
ZSWIM61Dec 21, 2022

Condition

NameSubmissionsLast Updated
2-aminoadipic 2-oxoadipic aciduria1Jul 18, 2024
3-Methylglutaconic aciduria type 24Dec 21, 2022
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency5Jul 18, 2024
3-hydroxy-3-methylglutaryl-CoA synthase deficiency4Jul 18, 2024
3-methylcrotonyl-CoA carboxylase 2 deficiency1Jul 18, 2024
3-methylglutaconic aciduria type 11Jul 18, 2024
46,XX ovarian dysgenesis-short stature syndrome2Jul 18, 2024
46,XY sex reversal 36Jul 18, 2024
46,XY sex reversal 63Jul 18, 2024
46,XY sex reversal 71Dec 21, 2022
5-Oxoprolinase deficiency2Jul 18, 2024
8q24.3 microdeletion syndrome10Jul 18, 2024
ACCES syndrome1Jul 18, 2024
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder11Jul 18, 2024
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome6Jul 18, 2024
ALG1-congenital disorder of glycosylation5Jul 18, 2024
ALG2-congenital disorder of glycosylation1Dec 21, 2022
ALG3-congenital disorder of glycosylation3Jul 18, 2024
ALG6-congenital disorder of glycosylation 1C1Jul 18, 2024
ALG9 congenital disorder of glycosylation1Dec 21, 2022
AP-4 deficiency syndrome2Jul 18, 2024
AP4-related intellectual disability and spastic paraplegia1Dec 21, 2022
ATP1A3-associated neurological disorder1Jul 18, 2024
ATP6AP2-related disorder1Dec 21, 2022
Aarskog syndrome6Jul 18, 2024
Achondrogenesis type II1Jul 18, 2024
Achondrogenesis, type IA1Dec 21, 2022
Achromatopsia 22Dec 21, 2022
Achromatopsia 35Jul 18, 2024
Achromatopsia 41Jul 18, 2024
Acral peeling skin syndrome4Jul 18, 2024
Acrocallosal syndrome1Jul 18, 2024
Acrodysostosis 1 with or without hormone resistance1Dec 21, 2022
Acrofacial dysostosis Cincinnati type3Jul 18, 2024
Acromelic frontonasal dysostosis1Dec 21, 2022
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome1Jul 18, 2024
Acute intermittent porphyria2Jul 18, 2024
Acyl-CoA dehydrogenase 9 deficiency7Jul 18, 2024
Adams-Oliver syndrome 12Dec 21, 2022
Adams-Oliver syndrome 31Dec 21, 2022
Adams-Oliver syndrome 52Dec 21, 2022
Adams-Oliver syndrome 61Jul 18, 2024
Adenylosuccinate lyase deficiency2Jul 18, 2024
Adrenoleukodystrophy4Dec 21, 2022
Aicardi-Goutieres syndrome 12Nov 1, 2016
Aicardi-Goutieres syndrome 21Jul 18, 2024
Aicardi-Goutieres syndrome 33Jul 18, 2024
Aicardi-Goutieres syndrome 42Dec 21, 2022
Aicardi-Goutieres syndrome 52Jul 18, 2024
Aicardi-Goutieres syndrome 61Jul 18, 2024
Alagille syndrome due to a JAG1 point mutation6Jul 18, 2024
Alagille syndrome due to a NOTCH2 point mutation4Jul 18, 2024
Alazami-Yuan syndrome1Dec 21, 2022
Alexander disease10Jul 18, 2024
Alkuraya-Kucinskas syndrome5Dec 21, 2022
Allan-Herndon-Dudley syndrome3Jul 18, 2024
Alopecia-intellectual disability syndrome 42Jul 18, 2024
Alpha thalassemia-X-linked intellectual disability syndrome1Dec 21, 2022
Alpha-1-antitrypsin deficiency4Jul 18, 2024
Alpha-N-acetylgalactosaminidase deficiency2Jul 18, 2024
Alport syndrome3Jul 18, 2024
Alstrom syndrome8Jul 18, 2024
Alternating hemiplegia of childhood 21Nov 1, 2016
Alveolar capillary dysplasia with pulmonary venous misalignment1Jul 18, 2024
Alzheimer disease 32Dec 21, 2022
Alzheimer disease 41Jul 18, 2024
Alzheimer disease type 11Jul 18, 2024
Amelogenesis imperfecta hypomaturation type 2A22Jul 18, 2024
Amelogenesis imperfecta, hypomaturation type, IIa61Dec 21, 2022
Amyloidosis, hereditary systemic 11Aug 3, 2022
Amyotrophic lateral sclerosis type 152Jul 18, 2024
Amyotrophic lateral sclerosis type 162Jul 18, 2024
Amyotrophic lateral sclerosis type 182Jul 18, 2024
Amyotrophic lateral sclerosis type 2, juvenile1Dec 21, 2022
Andersen Tawil syndrome3Jul 18, 2024
Androgen resistance syndrome10Jul 18, 2024
Anemia, congenital dyserythropoietic, type 1a2Dec 21, 2022
Anemia, nonspherocytic hemolytic, due to G6PD deficiency14Jul 18, 2024
Aneurysm-osteoarthritis syndrome10Jul 18, 2024
Aniridia 12Jul 18, 2024
Anterior segment dysgenesis2Dec 21, 2022
Anterior segment dysgenesis 31Jul 18, 2024
Aortic aneurysm, familial thoracic 101Jul 18, 2024
Aortic aneurysm, familial thoracic 123Jul 18, 2024
Aortic aneurysm, familial thoracic 41Dec 21, 2022
Aortic aneurysm, familial thoracic 65Jul 18, 2024
Aortic aneurysm, familial thoracic 74Jul 18, 2024
Aortic aneurysm, familial thoracic 81Jul 18, 2024
Aortic aneurysm, familial thoracic 91Jul 18, 2024
Aortic valve disease 11Aug 3, 2022
Aortic valve disease 21Dec 21, 2022
Aortic valve disease 32Dec 21, 2022
Argininosuccinate lyase deficiency1Jul 18, 2024
Arrhinia with choanal atresia and microphthalmia syndrome1Dec 21, 2022
Arrhythmogenic right ventricular cardiomyopathy1Jul 18, 2024
Arrhythmogenic right ventricular dysplasia 101Jul 18, 2024
Arrhythmogenic right ventricular dysplasia 132Dec 21, 2022
Arrhythmogenic right ventricular dysplasia 513Jul 18, 2024
Arrhythmogenic right ventricular dysplasia 915Jul 18, 2024
Arterial calcification, generalized, of infancy, 12Oct 1, 2019
Arterial calcification, generalized, of infancy, 21Oct 1, 2019
Arterial tortuosity syndrome3Jul 18, 2024
Arthrogryposis, distal, with impaired proprioception and touch1Jul 18, 2024
Arthrogryposis, renal dysfunction, and cholestasis 21Dec 21, 2022
Arts syndrome1Dec 21, 2022
Asphyxiating thoracic dystrophy 39Jul 18, 2024
Asphyxiating thoracic dystrophy 41Dec 21, 2022
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome5Jul 18, 2024
Ataxia - oculomotor apraxia type 41Jul 18, 2024
Ataxia, intention tremor, and hypotonia syndrome, childhood-onset1Jul 18, 2024
Ataxia-pancytopenia syndrome2Jul 18, 2024
Ataxia-telangiectasia syndrome10Jul 18, 2024
Atrial conduction disease3Jul 18, 2024
Atrial fibrillation, familial, 71Dec 21, 2022
Atrial septal defect 21Jul 18, 2024
Atrial septal defect 38Jul 18, 2024
Atrial septal defect 41Jul 18, 2024
Atrial septal defect 62Dec 21, 2022
Atrial septal defect 72Jul 18, 2024
Atrial septal defect 81Dec 21, 2022
Atrial septal defect 91Dec 21, 2022
Atrioventricular septal defect 51Dec 21, 2022
Atrophia bulborum hereditaria2Dec 21, 2022
Atypical glycine encephalopathy1Jul 18, 2024
Atypical hemolytic-uremic syndrome with I factor anomaly2Apr 4, 2023
Au-Kline syndrome6Jul 18, 2024
Auditory neuropathy-optic atrophy syndrome3Jul 18, 2024
Autism spectrum disorder due to AUTS2 deficiency5Jul 18, 2024
Autism, susceptibility to, 173Jul 18, 2024
Autism, susceptibility to, 51Jul 18, 2024
Autism, susceptibility to, X-linked 21Jul 18, 2024
Autism, susceptibility to, X-linked 41Jul 18, 2024
Autosomal dominant Alport syndrome7Aug 30, 2020
Autosomal dominant Kenny-Caffey syndrome3Jul 18, 2024
Autosomal dominant Parkinson disease 41Jul 18, 2024
Autosomal dominant Parkinson disease 82Jul 18, 2024
Autosomal dominant Robinow syndrome 23Jul 18, 2024
Autosomal dominant cerebellar ataxia, deafness and narcolepsy1Jul 18, 2024
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1Jul 18, 2024
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures2Jul 18, 2024
Autosomal dominant deafness - onychodystrophy syndrome1Dec 21, 2022
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome4Jul 18, 2024
Autosomal dominant ichthyosis vulgaris3Dec 21, 2022
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome14Jul 18, 2024
Autosomal dominant limb-girdle muscular dystrophy type 1F1Dec 21, 2022
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia1Dec 21, 2022
Autosomal dominant nocturnal frontal lobe epilepsy 11Jul 18, 2024
Autosomal dominant nonsyndromic hearing loss 102Jul 18, 2024
Autosomal dominant nonsyndromic hearing loss 122Aug 30, 2020
Autosomal dominant nonsyndromic hearing loss 152Dec 21, 2022
Autosomal dominant nonsyndromic hearing loss 171Jul 18, 2024
Autosomal dominant nonsyndromic hearing loss 202Jul 18, 2024
Autosomal dominant nonsyndromic hearing loss 2A5Jul 18, 2024
Autosomal dominant nonsyndromic hearing loss 3A1Aug 15, 2019
Autosomal dominant nonsyndromic hearing loss 401Dec 21, 2022
Autosomal dominant nonsyndromic hearing loss 441Dec 21, 2022
Autosomal dominant nonsyndromic hearing loss 4A1Dec 21, 2022
Autosomal dominant nonsyndromic hearing loss 561Dec 21, 2022
Autosomal dominant nonsyndromic hearing loss 72Jul 18, 2024
Autosomal dominant omodysplasia1Dec 21, 2022
Autosomal dominant pseudohypoaldosteronism type 11Jul 18, 2024
Autosomal recessive Alport syndrome1Aug 30, 2020
Autosomal recessive DOPA responsive dystonia2Jul 18, 2024
Autosomal recessive ataxia due to ubiquinone deficiency1Jul 18, 2024
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome6Jul 18, 2024
Autosomal recessive congenital ichthyosis 13Jul 18, 2024
Autosomal recessive congenital ichthyosis 32Jul 18, 2024
Autosomal recessive congenital ichthyosis 4A2Jul 18, 2024
Autosomal recessive congenital ichthyosis 4B1Dec 21, 2022
Autosomal recessive congenital ichthyosis 61Dec 21, 2022
Autosomal recessive distal spinal muscular atrophy 13Dec 21, 2022
Autosomal recessive early-onset Parkinson disease 232Dec 21, 2022
Autosomal recessive early-onset Parkinson disease 61Jul 18, 2024
Autosomal recessive hypophosphatemic bone disease4Jul 18, 2024
Autosomal recessive inherited pseudoxanthoma elasticum4Jul 18, 2024
Autosomal recessive juvenile Parkinson disease 23Jul 18, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2B3Dec 21, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2I3Jul 18, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2L1Jul 18, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2O1Jul 18, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2P1Dec 21, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2U1Dec 21, 2022
Autosomal recessive non-syndromic intellectual disability1Jul 18, 2024
Autosomal recessive nonsyndromic hearing loss 124Jul 18, 2024
Autosomal recessive nonsyndromic hearing loss 163Jul 18, 2024
Autosomal recessive nonsyndromic hearing loss 18A3Jul 18, 2024
Autosomal recessive nonsyndromic hearing loss 18B7Jul 18, 2024
Autosomal recessive nonsyndromic hearing loss 1A10Dec 21, 2022
Autosomal recessive nonsyndromic hearing loss 1B1Apr 4, 2023
Autosomal recessive nonsyndromic hearing loss 23Aug 15, 2019
Autosomal recessive nonsyndromic hearing loss 211Dec 21, 2022
Autosomal recessive nonsyndromic hearing loss 223Jul 18, 2024
Autosomal recessive nonsyndromic hearing loss 251Jul 18, 2024
Autosomal recessive nonsyndromic hearing loss 283Jul 18, 2024
Autosomal recessive nonsyndromic hearing loss 291Dec 21, 2022
Autosomal recessive nonsyndromic hearing loss 313Dec 21, 2022
Autosomal recessive nonsyndromic hearing loss 301Dec 21, 2022
Autosomal recessive nonsyndromic hearing loss 351Dec 21, 2022
Autosomal recessive nonsyndromic hearing loss 361Dec 21, 2022
Autosomal recessive nonsyndromic hearing loss 412Jul 18, 2024
Autosomal recessive nonsyndromic hearing loss 421Jul 18, 2024
Autosomal recessive nonsyndromic hearing loss 491Dec 21, 2022
Autosomal recessive nonsyndromic hearing loss 632Jul 18, 2024
Autosomal recessive nonsyndromic hearing loss 671Dec 21, 2022
Autosomal recessive nonsyndromic hearing loss 775Jul 18, 2024
Autosomal recessive nonsyndromic hearing loss 791Dec 21, 2022
Autosomal recessive nonsyndromic hearing loss 86Jul 18, 2024
Autosomal recessive nonsyndromic hearing loss 84B1Jul 18, 2024
Autosomal recessive nonsyndromic hearing loss 862Jul 18, 2024
Autosomal recessive nonsyndromic hearing loss 97Jul 18, 2024
Autosomal recessive omodysplasia1Dec 21, 2022
Autosomal recessive osteopetrosis 13Jul 18, 2024
Autosomal recessive osteopetrosis 41Nov 9, 2017
Autosomal recessive osteopetrosis 51Jul 18, 2024
Autosomal recessive polycystic kidney disease11Dec 21, 2022
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency1Dec 21, 2022
Autosomal recessive spastic paraplegia type 761Dec 21, 2022
Autosomal recessive spinocerebellar ataxia 103Dec 21, 2022
Autosomal recessive spinocerebellar ataxia 131Jul 18, 2024
Axenfeld-Rieger syndrome type 11Apr 4, 2023
Ayme-Gripp syndrome1Dec 21, 2022
BRAT1-related neurodevelopmental disorder1Apr 4, 2023
Band heterotopia of brain2Dec 21, 2022
Baraitser-Winter syndrome 14Jul 18, 2024
Baraitser-winter syndrome 21Dec 21, 2022
Bardet-Biedl syndrome 11Jul 18, 2024
Bardet-Biedl syndrome 103Dec 21, 2022
Bardet-Biedl syndrome 161Jul 18, 2024
Bardet-Biedl syndrome 24Jul 18, 2024
Bardet-Biedl syndrome 31Dec 21, 2022
Bardet-Biedl syndrome 51Jul 18, 2024
Bardet-Biedl syndrome 72Dec 21, 2022
Bardet-Biedl syndrome 92Dec 21, 2022
Bartter disease type 13Jul 18, 2024
Bartter disease type 25Jul 18, 2024
Bartter disease type 31Dec 21, 2022
Bartter disease type 51Dec 21, 2022
Basal cell nevus syndrome 13Jul 18, 2024
Basal ganglia calcification, idiopathic, 51Dec 21, 2022
Basal ganglia calcification, idiopathic, 7, autosomal recessive3Dec 21, 2022
Basilicata-Akhtar syndrome3Jul 18, 2024
Becker muscular dystrophy1Jul 18, 2024
Benign familial hematuria12Aug 30, 2020
Benign hereditary chorea1Dec 21, 2022
Bent bone dysplasia syndrome 11Dec 21, 2022
Beta-D-mannosidosis2Dec 21, 2022
Bethlem myopathy 21Dec 21, 2022
Bietti crystalline corneoretinal dystrophy1Dec 21, 2022
Bifunctional peroxisomal enzyme deficiency5Jul 18, 2024
Bilateral frontoparietal polymicrogyria2Dec 21, 2022
Biotin-responsive basal ganglia disease2Nov 1, 2016
Biotinidase deficiency3Jul 18, 2024
Birk-Barel syndrome1Apr 4, 2023
Birt-Hogg-Dube syndrome2Dec 21, 2022
Blepharocheilodontic syndrome 11Jul 18, 2024
Blepharocheilodontic syndrome 22Jul 18, 2024
Blepharophimosis - intellectual disability syndrome, SBBYS type9Jul 18, 2024
Blepharophimosis, ptosis, and epicanthus inversus syndrome2Jul 18, 2024
Blepharophimosis-impaired intellectual development syndrome2Jul 18, 2024
Bloom syndrome2Jul 18, 2024
Bohring-Opitz syndrome7Jul 18, 2024
Bone fragility with contractures, arterial rupture, and deafness1Dec 21, 2022
Bone marrow failure syndrome 33Jul 18, 2024
Bone marrow failure syndrome 41Dec 21, 2022
Bone mineral density quantitative trait locus 182Jul 18, 2024
Borjeson-Forssman-Lehmann syndrome2Jul 18, 2024
Bosch-Boonstra-Schaaf optic atrophy syndrome8Jul 18, 2024
Brachydactyly-elbow wrist dysplasia syndrome1Dec 21, 2022
Brain dopamine-serotonin vesicular transport disease1Jul 18, 2024
Brain malformations with or without urinary tract defects1Jul 18, 2024
Brain small vessel disease 1 with or without ocular anomalies2Jul 18, 2024
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome1Jul 18, 2024
Branchiooculofacial syndrome1Dec 21, 2022
Branchiootic syndrome 11Jul 18, 2024
Branchiootorenal syndrome 12Dec 21, 2022
Breast-ovarian cancer, familial, susceptibility to, 41Dec 21, 2022
Brittle cornea syndrome 11Dec 21, 2022
Brown-Vialetto-van Laere syndrome 12Dec 21, 2022
Brown-Vialetto-van Laere syndrome 23Dec 21, 2022
Brugada syndrome1Dec 21, 2022
Brugada syndrome 12Apr 4, 2023
Brugada syndrome 21Dec 21, 2022
Brugada syndrome 42Dec 21, 2022
C1Q deficiency1Dec 21, 2022
CACNA1A-related complex neurodevelopmental disorder1Jul 18, 2024
CBL-related disorder3Jul 18, 2024
CCDC115-CDG2Jul 18, 2024
CEBALID syndrome4Jul 18, 2024
CEP290-related ciliopathy6Jul 18, 2024
CHARGE syndrome27Jul 18, 2024
CODAS syndrome1Jul 18, 2024
COG6-ongenital disorder of glycosylation1Dec 21, 2022
COG8-congenital disorder of glycosylation2Dec 21, 2022
COL4A1 or COL4A2-related cerebral small vessel disease10Apr 4, 2023
Camptomelic dysplasia2Jul 18, 2024
Capillary malformation-arteriovenous malformation 17Jul 18, 2024
Capillary malformation-arteriovenous malformation 29Jul 18, 2024
Cardiac anomalies - developmental delay - facial dysmorphism syndrome21Jul 18, 2024
Cardiac arrhythmia, ankyrin-B-related2Dec 21, 2022
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies5Jul 18, 2024
Cardiac valvular dysplasia, X-linked1Jul 18, 2024
Cardiac, facial, and digital anomalies with developmental delay3Jul 18, 2024
Cardiac-urogenital syndrome1Dec 21, 2022
Cardioacrofacial dysplasia 21Dec 21, 2022
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 23Dec 21, 2022
Cardiofaciocutaneous syndrome 16Jul 18, 2024
Cardiofaciocutaneous syndrome 21Dec 21, 2022
Cardiofaciocutaneous syndrome 31Dec 21, 2022
Cardiomyopathy15Jul 18, 2024
Cardiomyopathy, dilated, 2D1Jul 18, 2024
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis1Apr 4, 2023
Cardiomyopathy, familial hypertrophic 2722Jul 18, 2024
Cardiomyopathy, familial hypertrophic, 2813Jul 18, 2024
Cardiospondylocarpofacial syndrome1Dec 21, 2022
Carnitine palmitoyl transferase II deficiency, myopathic form2Dec 21, 2022
Cataract 1 multiple types1Jul 18, 2024
Cataract 15 multiple types1Dec 21, 2022
Cataract 20 multiple types1Dec 21, 2022
Cataract 21 multiple types1Jul 18, 2024
Cataract 3 multiple types1Jul 18, 2024
Cataract 301Jul 18, 2024
Cataract 381Dec 21, 2022
Cataract 481Jul 18, 2024
Cataract 6 multiple types1Dec 21, 2022
Catecholaminergic polymorphic ventricular tachycardia 130Jul 18, 2024
Catecholaminergic polymorphic ventricular tachycardia 21Dec 21, 2022
Catecholaminergic polymorphic ventricular tachycardia 36Jul 18, 2024
Catecholaminergic polymorphic ventricular tachycardia 41Jul 18, 2024
Catecholaminergic polymorphic ventricular tachycardia 54Jul 18, 2024
Catifa syndrome2Jul 18, 2024
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease1Jul 18, 2024
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 23Jul 18, 2024
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 41Dec 21, 2022
Cerebellar ataxia-hypogonadism syndrome1Dec 21, 2022
Cerebellar atrophy with seizures and variable developmental delay1Dec 21, 2022
Cerebellar atrophy, visual impairment, and psychomotor retardation;4Dec 21, 2022
Cerebellar dysfunction with variable cognitive and behavioral abnormalities4Jul 18, 2024
Cerebellar-facial-dental syndrome1Dec 21, 2022
Cerebral amyloid angiopathy, APP-related3Jul 18, 2024
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 112Jul 18, 2024
Cerebral cavernous malformation4Jul 18, 2024
Cerebral cavernous malformation 12Dec 21, 2022
Cerebral folate transport deficiency1Jul 18, 2024
Cerebro-costo-mandibular syndrome1Jul 18, 2024
Cerebrooculofacioskeletal syndrome 33Dec 21, 2022
Cerebroretinal microangiopathy with calcifications and cysts 12Dec 21, 2022
Channelopathy-associated congenital insensitivity to pain, autosomal recessive1Jul 18, 2024
Char syndrome1Dec 21, 2022
Charcot-Marie-Tooth Disease, axonal, type 2GG1Jul 18, 2024
Charcot-Marie-Tooth disease X-linked dominant 14Jul 18, 2024
Charcot-Marie-Tooth disease X-linked recessive 41Dec 21, 2022
Charcot-Marie-Tooth disease axonal type 2C1Jul 18, 2024
Charcot-Marie-Tooth disease axonal type 2CC1Dec 21, 2022
Charcot-Marie-Tooth disease axonal type 2F1Jul 18, 2024
Charcot-Marie-Tooth disease axonal type 2L1Dec 21, 2022
Charcot-Marie-Tooth disease axonal type 2N1Jul 18, 2024
Charcot-Marie-Tooth disease axonal type 2O1Jul 18, 2024
Charcot-Marie-Tooth disease axonal type 2X1Dec 21, 2022
Charcot-Marie-Tooth disease axonal type 2Z1Jul 18, 2024
Charcot-Marie-Tooth disease dominant intermediate E1Dec 21, 2022
Charcot-Marie-Tooth disease dominant intermediate F1Dec 21, 2022
Charcot-Marie-Tooth disease type 2Y1Dec 21, 2022
Charcot-Marie-Tooth disease type 4B32Jul 18, 2024
Charcot-Marie-Tooth disease type 4F1Dec 21, 2022
Charcot-Marie-Tooth disease, axonal, Type 2HH1Jul 18, 2024
Charcot-marie-tooth disease, axonal, type 2DD2Jul 18, 2024
Charlevoix-Saguenay spastic ataxia4Jul 18, 2024
Childhood apraxia of speech5Jul 18, 2024
Childhood onset GLUT1 deficiency syndrome 21Dec 21, 2022
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1Dec 21, 2022
Cholestanol storage disease2Dec 21, 2022
Cholestasis, progressive familial intrahepatic, 42Jul 18, 2024
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss2Dec 21, 2022
Cholestatic liver disease2Sep 16, 2020
Chondrodysplasia punctata 2 X-linked dominant1Jul 18, 2024
Chopra-Amiel-Gordon syndrome2Jul 18, 2024
Choroideremia5Jul 18, 2024
Chromosome 1p32-p31 deletion syndrome5Dec 21, 2022
Chromosome 2q32-q33 deletion syndrome4Jul 18, 2024
Chudley-McCullough syndrome1Dec 21, 2022
Chylomicron retention disease1Jul 18, 2024
Ciliary dyskinesia, primary, 402Jul 18, 2024
Ciliary dyskinesia, primary, 411Jul 18, 2024
Ciliopathy1Jul 18, 2024
Citrullinemia type I3Jul 18, 2024
Clark-Baraitser syndrome7Jul 18, 2024
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency10Jul 18, 2024
Classic homocystinuria4Jul 18, 2024
Cleft lip with or without cleft palate1Dec 21, 2022
Cleidocranial dysostosis2Jul 18, 2024
Cobalamin C disease3Jul 18, 2024
Cobblestone lissencephaly without muscular or ocular involvement1Dec 21, 2022
Cockayne syndrome type 23Jul 18, 2024
Coffin-Lowry syndrome4Jul 18, 2024
Coffin-Siris syndrome 126Jul 18, 2024
Coffin-Siris syndrome 102Jul 18, 2024
Coffin-Siris syndrome 112Dec 21, 2022
Coffin-Siris syndrome 65Jul 18, 2024
Coffin-Siris syndrome 72Jul 18, 2024
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome2Jul 18, 2024
Cognitive impairment with or without cerebellar ataxia3Jul 18, 2024
Cohen syndrome10Jul 18, 2024
Cohen-Gibson syndrome1Jul 18, 2024
Collagen 6-related myopathy1Dec 21, 2022
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome1Jul 18, 2024
Combined deficiency of sialidase AND beta galactosidase1Dec 21, 2022
Combined immunodeficiency due to LRBA deficiency1Dec 21, 2022
Combined immunodeficiency due to MALT1 deficiency1Jul 18, 2024
Combined immunodeficiency, X-linked1Jul 18, 2024
Combined oxidative phosphorylation defect type 135Dec 21, 2022
Combined oxidative phosphorylation defect type 172Dec 21, 2022
Combined oxidative phosphorylation defect type 204Jul 18, 2024
Combined oxidative phosphorylation defect type 212Dec 21, 2022
Combined oxidative phosphorylation defect type 233Jul 18, 2024
Combined oxidative phosphorylation defect type 241Jul 18, 2024
Combined oxidative phosphorylation defect type 271Dec 21, 2022
Combined oxidative phosphorylation defect type 71Dec 21, 2022
Combined oxidative phosphorylation defect type 83Jul 18, 2024
Combined oxidative phosphorylation deficiency 321Dec 21, 2022
Combined oxidative phosphorylation deficiency 351Jul 18, 2024
Combined oxidative phosphorylation deficiency 392Jul 18, 2024
Combined oxidative phosphorylation deficiency 401Jul 18, 2024
Complement component 6 deficiency1Jul 18, 2024
Complement component 7 deficiency1Jul 18, 2024
Complex cortical dysplasia with other brain malformations 15Jul 18, 2024
Complex cortical dysplasia with other brain malformations 22Jul 18, 2024
Complex cortical dysplasia with other brain malformations 51Jul 18, 2024
Complex cortical dysplasia with other brain malformations 62Jul 18, 2024
Complex cortical dysplasia with other brain malformations 71Jul 18, 2024
Complex neurodevelopmental disorder2Jul 18, 2024
Cone dystrophy 31Jul 18, 2024
Cone-rod dystrophy 101Jul 18, 2024
Cone-rod dystrophy 132Dec 21, 2022
Cone-rod dystrophy 201Dec 21, 2022
Cone-rod dystrophy 36Jul 18, 2024
Cone-rod dystrophy 52Jul 18, 2024
Cone-rod dystrophy 71Dec 21, 2022
Cone-rod synaptic disorder, congenital nonprogressive1Dec 21, 2022
Congenital absence of salivary gland1Jul 18, 2024
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency3Jul 18, 2024
Congenital adrenal hypoplasia, X-linked3Dec 21, 2022
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency1Dec 21, 2022
Congenital amegakaryocytic thrombocytopenia2Apr 4, 2023
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay1Dec 21, 2022
Congenital anomaly of kidney and urinary tract1Dec 21, 2022
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome1Jul 18, 2024
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome3Jul 18, 2024
Congenital cataracts-facial dysmorphism-neuropathy syndrome1Dec 21, 2022
Congenital central hypoventilation1Oct 1, 2019
Congenital cerebellar hypoplasia1Dec 21, 2022
Congenital contractural arachnodactyly17Jul 18, 2024
Congenital contractures of the limbs and face, hypotonia, and developmental delay1Nov 1, 2016
Congenital defect of folate absorption2Jul 18, 2024
Congenital disorder of deglycosylation 13Jul 18, 2024
Congenital disorder of deglycosylation 22Jul 18, 2024
Congenital disorder of glycosylation type 1E1Dec 21, 2022
Congenital disorder of glycosylation, type IAA1Dec 21, 2022
Congenital disorder of glycosylation, type IIr2Jul 18, 2024
Congenital dyserythropoietic anemia, type II3Jul 18, 2024
Congenital factor VII deficiency2Jul 18, 2024
Congenital fibrosis of extraocular muscles type 11Dec 21, 2022
Congenital generalized lipodystrophy type 12Dec 21, 2022
Congenital heart defects and ectodermal dysplasia2Dec 21, 2022
Congenital heart defects and skeletal malformations syndrome1Jul 18, 2024
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder7Jul 18, 2024
Congenital heart defects, multiple types, 24Jul 18, 2024
Congenital heart defects, multiple types, 42Dec 21, 2022
Congenital heart defects, multiple types, 62Dec 21, 2022
Congenital heart defects, multiple types, 74Jul 18, 2024
Congenital heart disease2Jul 18, 2024
Congenital hyperammonemia, type I5Dec 21, 2022
Congenital isolated adrenocorticotropic hormone deficiency2Jul 18, 2024
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type2Jul 18, 2024
Congenital long QT syndrome2Jul 18, 2024
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome1Jul 18, 2024
Congenital microvillous atrophy2Jul 18, 2024
Congenital muscular hypertrophy-cerebral syndrome5Jul 18, 2024
Congenital myasthenic syndrome 101Dec 21, 2022
Congenital myasthenic syndrome 113Jul 18, 2024
Congenital myasthenic syndrome 192Jul 18, 2024
Congenital myasthenic syndrome 52Jul 18, 2024
Congenital myasthenic syndrome 81Jul 18, 2024
Congenital nongoitrous hypothyroidism 61Jul 18, 2024
Congenital nonprogressive myopathy with Moebius and Robin sequences2Dec 21, 2022
Congenital secretory sodium diarrhea 31Jul 18, 2024
Congenital stationary night blindness 1E1Dec 21, 2022
Congenital stationary night blindness 1F1Jul 18, 2024
Cornelia de Lange syndrome 119Jul 18, 2024
Cornelia de Lange syndrome 31Dec 21, 2022
Cornelia de Lange syndrome 41Dec 21, 2022
Cornelia de Lange syndrome 52Aug 30, 2020
Cortical dysplasia, complex, with other brain malformations 102Dec 21, 2022
Cortical dysplasia, complex, with other brain malformations 91Dec 21, 2022
Cortical dysplasia-focal epilepsy syndrome2Jul 18, 2024
Costello syndrome5Jul 18, 2024
Cowden syndrome 17Jul 18, 2024
Cowden syndrome 51Dec 21, 2022
Cowden syndrome 61Dec 21, 2022
Cranioectodermal dysplasia 12Jul 18, 2024
Craniofacial microsomia 11Jul 18, 2024
Craniofrontonasal syndrome2Jul 18, 2024
Craniosynostosis 21Jul 18, 2024
Craniosynostosis 41Jul 18, 2024
Craniosynostosis 72Jul 18, 2024
Craniosynostosis and dental anomalies1Jul 18, 2024
Craniosynostosis with ectopia lentis2Jul 18, 2024
Creatine transporter deficiency2Jul 18, 2024
Cryopyrin associated periodic syndrome1Dec 21, 2022
Cryptorchidism1Dec 21, 2022
Currarino triad3Jul 18, 2024
Cutaneous photosensitivity2Sep 16, 2020
Cutaneous porphyria1Dec 21, 2022
Cutis laxa with osteodystrophy1Jul 18, 2024
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies1Dec 21, 2022
Cutis laxa, autosomal dominant 12Dec 21, 2022
Cutis laxa, autosomal recessive, type 1B2Jul 18, 2024
Cystic fibrosis2Apr 4, 2023
Cystinuria1Apr 4, 2023
D-2-hydroxyglutaric aciduria 12Dec 21, 2022
D-2-hydroxyglutaric aciduria 21Dec 21, 2022
DEGCAGS syndrome1Jul 18, 2024
DYRK1A-related intellectual disability syndrome9Jul 18, 2024
Danon disease3Jul 18, 2024
De Lange syndrome2Jul 18, 2024
DeSanto-Shinawi syndrome1Jul 18, 2024
DeSanto-Shinawi syndrome due to WAC point mutation1Jul 18, 2024
Deafness with labyrinthine aplasia, microtia, and microdontia1Dec 21, 2022
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome1Jul 18, 2024
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase2Jul 18, 2024
Deficiency of acetyl-CoA acetyltransferase1Dec 21, 2022
Deficiency of alpha-mannosidase2Jul 18, 2024
Deficiency of aromatic-L-amino-acid decarboxylase4Dec 21, 2022
Deficiency of butyryl-CoA dehydrogenase2Dec 21, 2022
Deficiency of butyrylcholinesterase3Jul 18, 2024
Deficiency of guanidinoacetate methyltransferase2Jul 18, 2024
Deficiency of hydroxymethylglutaryl-CoA lyase1Dec 21, 2022
Deficiency of iodide peroxidase1Dec 21, 2022
Deficiency of malonyl-CoA decarboxylase3Jul 18, 2024
Delayed sleep phase syndrome, susceptibility to1Jul 18, 2024
Dent disease type 111Jul 18, 2024
Dent disease type 21Jul 18, 2024
Dermatofibrosis lenticularis disseminata1Jul 18, 2024
Desbuquois dysplasia 11Jul 18, 2024
Developmental and epileptic encephalopathy 1082Jul 18, 2024
Developmental and epileptic encephalopathy 6B1Jul 18, 2024
Developmental and epileptic encephalopathy 9411Jul 18, 2024
Developmental and epileptic encephalopathy 961Jul 18, 2024
Developmental and epileptic encephalopathy, 1115Jul 18, 2024
Developmental and epileptic encephalopathy, 121Jul 18, 2024
Developmental and epileptic encephalopathy, 138Jul 18, 2024
Developmental and epileptic encephalopathy, 147Jul 18, 2024
Developmental and epileptic encephalopathy, 162Jul 18, 2024
Developmental and epileptic encephalopathy, 173Jul 18, 2024
Developmental and epileptic encephalopathy, 187Jul 18, 2024
Developmental and epileptic encephalopathy, 27Jul 18, 2024
Developmental and epileptic encephalopathy, 234Jul 18, 2024
Developmental and epileptic encephalopathy, 241Dec 21, 2022
Developmental and epileptic encephalopathy, 266Jul 18, 2024
Developmental and epileptic encephalopathy, 283Jul 18, 2024
Developmental and epileptic encephalopathy, 31A2Jul 18, 2024
Developmental and epileptic encephalopathy, 322Jul 18, 2024
Developmental and epileptic encephalopathy, 331Jul 18, 2024
Developmental and epileptic encephalopathy, 353Jul 18, 2024
Developmental and epileptic encephalopathy, 361Dec 21, 2022
Developmental and epileptic encephalopathy, 391Dec 21, 2022
Developmental and epileptic encephalopathy, 414Jul 18, 2024
Developmental and epileptic encephalopathy, 4211Jul 18, 2024
Developmental and epileptic encephalopathy, 434Jul 18, 2024
Developmental and epileptic encephalopathy, 442Jul 18, 2024
Developmental and epileptic encephalopathy, 451Dec 21, 2022
Developmental and epileptic encephalopathy, 461Jul 18, 2024
Developmental and epileptic encephalopathy, 55Jul 18, 2024
Developmental and epileptic encephalopathy, 507Jul 18, 2024
Developmental and epileptic encephalopathy, 521Dec 21, 2022
Developmental and epileptic encephalopathy, 543Jul 18, 2024
Developmental and epileptic encephalopathy, 561Jul 18, 2024
Developmental and epileptic encephalopathy, 573Jul 18, 2024
Developmental and epileptic encephalopathy, 581Dec 21, 2022
Developmental and epileptic encephalopathy, 65Jul 18, 2024
Developmental and epileptic encephalopathy, 601Dec 21, 2022
Developmental and epileptic encephalopathy, 623Jul 18, 2024
Developmental and epileptic encephalopathy, 643Jul 18, 2024
Developmental and epileptic encephalopathy, 673Jul 18, 2024
Developmental and epileptic encephalopathy, 697Jul 18, 2024
Developmental and epileptic encephalopathy, 716Jul 18, 2024
Developmental and epileptic encephalopathy, 702Jul 18, 2024
Developmental and epileptic encephalopathy, 711Dec 21, 2022
Developmental and epileptic encephalopathy, 722Dec 21, 2022
Developmental and epileptic encephalopathy, 731Dec 21, 2022
Developmental and epileptic encephalopathy, 742Jul 18, 2024
Developmental and epileptic encephalopathy, 754Jul 18, 2024
Developmental and epileptic encephalopathy, 782Jul 18, 2024
Developmental and epileptic encephalopathy, 791Jul 18, 2024
Developmental and epileptic encephalopathy, 831Jul 18, 2024
Developmental and epileptic encephalopathy, 842Jul 18, 2024
Developmental and epileptic encephalopathy, 85, with or without midline brain defects1Jul 18, 2024
Developmental and epileptic encephalopathy, 871Dec 21, 2022
Developmental and epileptic encephalopathy, 98Jul 18, 2024
Developmental delay with autism spectrum disorder and gait instability5Jul 18, 2024
Developmental delay with dysmorphic facies and dental anomalies1Jul 18, 2024
Developmental delay with or without dysmorphic facies and autism16Jul 18, 2024
Developmental delay with variable intellectual impairment and behavioral abnormalities6Jul 18, 2024
Developmental delay with variable neurologic and brain abnormalities2Jul 18, 2024
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders1Jul 18, 2024
Developmental delay, hypotonia, and impaired language1Jul 18, 2024
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities1Jul 18, 2024
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy1Jul 18, 2024
Developmental delay, impaired speech, and behavioral abnormalities6Jul 18, 2024
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures2Jul 18, 2024
Developmental malformations-deafness-dystonia syndrome2Dec 21, 2022
DiGeorge syndrome1Jul 18, 2024
Diabetes insipidus, nephrogenic, X-linked3Jul 18, 2024
Diamond-Blackfan anemia 12Jul 18, 2024
Diamond-Blackfan anemia 102Jul 18, 2024
Diamond-Blackfan anemia 121Oct 1, 2019
Diamond-Blackfan anemia 64Jul 18, 2024
Diamond-Blackfan anemia 81Jul 18, 2024
Diaphyseal dysplasia1Jul 18, 2024
Dias-Logan syndrome4Jul 18, 2024
Diencephalic-mesencephalic junction dysplasia syndrome 13Jul 18, 2024
Diets-Jongmans syndrome1Jul 18, 2024
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome2Dec 21, 2022
Diffuse nonepidermolytic palmoplantar keratoderma2Dec 21, 2022
Dihydropyrimidine dehydrogenase deficiency8Dec 21, 2022
Dilated cardiomyopathy 1AA7Jul 18, 2024
Dilated cardiomyopathy 1C3Dec 21, 2022
Dilated cardiomyopathy 1CC3Jul 18, 2024
Dilated cardiomyopathy 1D11Jul 18, 2024
Dilated cardiomyopathy 1DD11Jul 18, 2024
Dilated cardiomyopathy 1E1Oct 1, 2019
Dilated cardiomyopathy 1EE1Dec 21, 2022
Dilated cardiomyopathy 1HH6Jul 18, 2024
Dilated cardiomyopathy 1II1Oct 1, 2019
Dilated cardiomyopathy 1JJ3Dec 21, 2022
Dilated cardiomyopathy 1NN2Dec 21, 2022
Dilated cardiomyopathy 1O2Dec 21, 2022
Dilated cardiomyopathy 1P1Jul 18, 2024
Dilated cardiomyopathy 1R1Dec 21, 2022
Dilated cardiomyopathy 1S1Apr 4, 2023
Dilated cardiomyopathy 1W6Jul 18, 2024
Dilated cardiomyopathy 1Y2Jul 18, 2024
Dilated cardiomyopathy 3B3Jul 18, 2024
Distal arthrogryposis type 2B11Dec 21, 2022
Distal arthrogryposis type 5D5Jul 18, 2024
Distal myopathy with posterior leg and anterior hand involvement2Jul 18, 2024
Distal spinal muscular atrophy1Dec 21, 2022
Distichiasis-lymphedema syndrome1Dec 21, 2022
Drash syndrome1Jul 18, 2024
Duane-radial ray syndrome2Jul 18, 2024
Duchenne and Becker muscular dystrophy3Dec 21, 2022
Duchenne muscular dystrophy10Jul 18, 2024
Dysequilibrium syndrome1Jul 18, 2024
Dyskeratosis congenita1Jul 18, 2024
Dyskeratosis congenita, X-linked4Jul 18, 2024
Dyskeratosis congenita, autosomal dominant 32Jul 18, 2024
Dystonia 241Jul 18, 2024
Dystonia 251Dec 21, 2022
Dystonia 28, childhood-onset2Dec 21, 2022
Dystonia 35, childhood-onset1Jul 18, 2024
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities1Jul 18, 2024
Dystonic disorder1Dec 21, 2022
Early infantile epileptic encephalopathy with suppression bursts3Jul 18, 2024
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome8Jul 18, 2024
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome4Jul 18, 2024
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome1Dec 21, 2022
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis3Jul 18, 2024
Ectodermal dysplasia 4, hair/nail type1Jul 18, 2024
Ectodermal dysplasia and immunodeficiency 12Jul 18, 2024
Ectopia lentis 2, isolated, autosomal recessive2Jul 18, 2024
Ectrodactyly1Aug 15, 2019
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 31Jul 18, 2024
Ehlers-Danlos syndrome due to tenascin-X deficiency4Jul 18, 2024
Ehlers-Danlos syndrome, arthrochalasia type1Jul 18, 2024
Ehlers-Danlos syndrome, classic type, 19Jul 18, 2024
Ehlers-Danlos syndrome, classic type, 26Jul 18, 2024
Ehlers-Danlos syndrome, dermatosparaxis type1Dec 21, 2022
Ehlers-Danlos syndrome, periodontal type 12Jul 18, 2024
Ehlers-Danlos syndrome, spondylocheirodysplastic type1Jul 18, 2024
Ehlers-Danlos syndrome, spondylodysplastic type, 11Dec 21, 2022
Ehlers-Danlos syndrome, spondylodysplastic type, 22Jul 18, 2024
Elliptocytosis 31Aug 15, 2019
Emery-Dreifuss muscular dystrophy 1, X-linked1Jul 18, 2024
Emery-Dreifuss muscular dystrophy 5, autosomal dominant1Dec 21, 2022
Encephalitis, acute, infection (viral)-induced, susceptibility to, 112Jul 18, 2024
Encephalopathy, acute, infection-induced, susceptibility to, 92Jul 18, 2024
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 12Apr 4, 2023
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis1Jul 18, 2024
Encephalopathy, progressive, with amyotrophy and optic atrophy1Dec 21, 2022
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive1Dec 21, 2022
Epidermolysis bullosa, junctional 3B, severe1Jul 18, 2024
Epidermolytic hyperkeratosis 11Jul 18, 2024
Epilepsy, childhood absence, susceptibility to, 62Jul 18, 2024
Epilepsy, early-onset, vitamin B6-dependent4Jul 18, 2024
Epilepsy, familial focal, with variable foci 111Jul 18, 2024
Epilepsy, familial focal, with variable foci 21Jul 18, 2024
Epilepsy, familial focal, with variable foci 34Jul 18, 2024
Epilepsy, idiopathic generalized, susceptibility to, 102Dec 21, 2022
Epilepsy, idiopathic generalized, susceptibility to, 151Jul 18, 2024
Epilepsy, progressive myoclonic, 111Jul 18, 2024
Epileptic encephalopathy, infantile or early childhood, 11Dec 21, 2022
Epileptic encephalopathy, infantile or early childhood, 23Jul 18, 2024
Episodic ataxia type 12Jul 18, 2024
Episodic ataxia type 26Jul 18, 2024
Episodic ataxia type 61Dec 21, 2022
Episodic kinesigenic dyskinesia 12Jul 18, 2024
Erythrocytosis, familial, 42Jul 18, 2024
Ethylmalonic encephalopathy3Jul 18, 2024
Exostoses, multiple, type 11Dec 21, 2022
Exudative vitreoretinopathy 12Jul 18, 2024
Exudative vitreoretinopathy 51Jul 18, 2024
Exudative vitreoretinopathy 71Dec 21, 2022
FG syndrome 22Jul 18, 2024
FG syndrome 44Jul 18, 2024
FGFR2-related disorder1Apr 4, 2023
FRAXE2Jul 18, 2024
Fabry disease6Dec 21, 2022
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome1Dec 21, 2022
Factor XIII, b subunit, deficiency of1Jul 18, 2024
Failure to thrive2Sep 16, 2020
Familial Alzheimer disease1Jul 18, 2024
Familial X-linked hypophosphatemic vitamin D refractory rickets4Jul 18, 2024
Familial acute necrotizing encephalopathy2Jul 18, 2024
Familial adenomatous polyposis 14Jul 18, 2024
Familial cardiomyopathy2Dec 21, 2022
Familial episodic pain syndrome with predominantly lower limb involvement1Dec 21, 2022
Familial hemophagocytic lymphohistiocytosis 23Jul 18, 2024
Familial hemophagocytic lymphohistiocytosis 41Dec 21, 2022
Familial hypocalciuric hypercalcemia 12Dec 21, 2022
Familial hypokalemia-hypomagnesemia26Jul 18, 2024
Familial infantile myasthenia2Dec 21, 2022
Familial isolated dilated cardiomyopathy2Dec 21, 2022
Familial juvenile hyperuricemic nephropathy type 110Jul 18, 2024
Familial medullary thyroid carcinoma1Dec 21, 2022
Familial meningioma1Jul 18, 2024
Familial pityriasis rubra pilaris1Dec 21, 2022
Familial visceral amyloidosis, Ostertag type1Apr 4, 2023
Fanconi anemia complementation group A6Jul 18, 2024
Fanconi anemia complementation group B1Jul 18, 2024
Fanconi anemia complementation group C2Jul 18, 2024
Fanconi anemia complementation group D22Jul 18, 2024
Fanconi anemia complementation group G1Dec 21, 2022
Fanconi anemia complementation group O1Jul 18, 2024
Fanconi anemia complementation group P2Dec 21, 2022
Fanconi anemia complementation group Q2Dec 21, 2022
Fanconi anemia complementation group R2Jul 18, 2024
Fanconi anemia, complementation group S2Dec 21, 2022
Fanconi renotubular syndrome 51Jul 18, 2024
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 33Jul 18, 2024
Febrile seizures, familial, 81Jul 18, 2024
Feingold syndrome type 13Apr 4, 2023
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement1Jul 18, 2024
Fibrosis of extraocular muscles, congenital, 52Jul 18, 2024
Filippi syndrome2Jul 18, 2024
Finnish congenital nephrotic syndrome14Jul 18, 2024
Floating-Harbor syndrome3Jul 18, 2024
Focal dermal hypoplasia1Jul 18, 2024
Focal segmental glomerulosclerosis 12Jul 18, 2024
Focal segmental glomerulosclerosis 21Jul 18, 2024
Focal segmental glomerulosclerosis 57Jul 18, 2024
Focal segmental glomerulosclerosis 82Dec 21, 2022
Focal segmental glomerulosclerosis and neurodevelopmental syndrome2Jul 18, 2024
Fontaine progeroid syndrome1Jul 18, 2024
Fragile X syndrome1Jul 18, 2024
Fraser syndrome 12Jul 18, 2024
Fraser syndrome 21Jul 18, 2024
Frasier syndrome2Jul 18, 2024
Frontotemporal dementia1Jul 18, 2024
Frontotemporal dementia and/or amyotrophic lateral sclerosis 42Jul 18, 2024
Frontotemporal dementia and/or amyotrophic lateral sclerosis 51Dec 21, 2022
Fuhrmann syndrome1Jul 18, 2024
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis1Jul 18, 2024
GLUT1 deficiency syndrome2Jul 18, 2024
GM1 gangliosidosis5Jul 18, 2024
GRIK2-related neurodevelopmental disorder1Oct 1, 2019
GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder2Dec 21, 2022
Gabriele de Vries syndrome1Jul 18, 2024
Galactosylceramide beta-galactosidase deficiency6Jul 18, 2024
Galloway-Mowat syndrome 32Jul 18, 2024
Galloway-Mowat syndrome 42Jul 18, 2024
Gastrointestinal defects and immunodeficiency syndrome 15Jul 18, 2024
Gaucher disease3Jul 18, 2024
Gaucher disease perinatal lethal2Jul 18, 2024
Gaucher disease type I3Jul 18, 2024
Gaze palsy, familial horizontal, with progressive scoliosis 13Dec 21, 2022
Geleophysic dysplasia 12Dec 21, 2022
Generalized epilepsy with febrile seizures plus, type 101Jul 18, 2024
Generalized epilepsy with febrile seizures plus, type 28Jul 18, 2024
Genitopatellar syndrome1Dec 21, 2022
Genitourinary and/or brain malformation syndrome2Dec 21, 2022
Gillespie syndrome1Dec 21, 2022
Glaucoma 1, open angle, A1Jul 18, 2024
Glaucoma 3A2Jul 18, 2024
Global developmental delay with or without impaired intellectual development3Jul 18, 2024
Global developmental delay with speech and behavioral abnormalities4Jul 18, 2024
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies1Jul 18, 2024
Global proximal tubulopathy2Sep 16, 2020
Glomerulopathy with fibronectin deposits 27Jul 18, 2024
Glomuvenous malformation2Dec 21, 2022
Glucocorticoid deficiency with achalasia3Jul 18, 2024
Glucose-6-phosphate transport defect2Jul 18, 2024
Glutamate formiminotransferase deficiency1Dec 21, 2022
Glutamate pyruvate transaminase 2 deficiency6Jul 18, 2024
Glutaric aciduria, type 15Jul 18, 2024
Glycine N-methyltransferase deficiency1Jul 18, 2024
Glycine encephalopathy 14Jul 18, 2024
Glycogen storage disease IXa11Jul 18, 2024
Glycogen storage disease IXb1Jul 18, 2024
Glycogen storage disease IXd1Dec 21, 2022
Glycogen storage disease XV1Jul 18, 2024
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form1Jul 18, 2024
Glycogen storage disease due to muscle beta-enolase deficiency2Dec 21, 2022
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency3Jul 18, 2024
Glycogen storage disease type III5Jul 18, 2024
Glycogen storage disease, type II7Jul 18, 2024
Glycogen storage disease, type IV1Dec 21, 2022
Glycogen storage disease, type V4Dec 21, 2022
Glycogen storage disorder due to hepatic glycogen synthase deficiency4Jul 18, 2024
Glycosylphosphatidylinositol biosynthesis defect 152Jul 18, 2024
Glycosylphosphatidylinositol biosynthesis defect 162Jul 18, 2024
Gorlin syndrome4Jul 18, 2024
Grange syndrome1Jul 18, 2024
Granulomatous disease, chronic, X-linked2Jul 18, 2024
Greig cephalopolysyndactyly syndrome3Jul 18, 2024
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy3Dec 21, 2022
H syndrome2Jul 18, 2024
HSD10 mitochondrial disease1Oct 1, 2019
HUWE1-related neurodevelopmental disorder1Oct 1, 2019
Hajdu-Cheney syndrome3Jul 18, 2024
Hamartoma of hypothalamus1Dec 21, 2022
Hand-foot-genital syndrome1Dec 21, 2022
Hao-Fountain syndrome1Dec 21, 2022
Hao-Fountain syndrome due to USP7 mutation2Jul 18, 2024
Hearing loss, X-linked 61Jul 18, 2024
Hearing loss, autosomal dominant 761Jul 18, 2024
Hearing loss, autosomal dominant 801Jul 18, 2024
Hearing loss, autosomal recessive1Dec 21, 2022
Hearing loss, autosomal recessive 1001Jul 18, 2024
Hearing loss, autosomal recessive 1101Aug 15, 2019
Hearing loss, autosomal recessive 575Jul 18, 2024
Heart defect - tongue hamartoma - polysyndactyly syndrome2Jul 18, 2024
Hecht syndrome3Jul 18, 2024
Hemochromatosis type 13Jul 18, 2024
Hemochromatosis type 2A2Dec 21, 2022
Hemochromatosis type 31Dec 21, 2022
Hemorrhage, intracerebral, susceptibility to1Dec 21, 2022
Hennekam lymphangiectasia-lymphedema syndrome 11Jul 18, 2024
Hepatic veno-occlusive disease-immunodeficiency syndrome1Jul 18, 2024
Hereditary acrodermatitis enteropathica2Jul 18, 2024
Hereditary arterial and articular multiple calcification syndrome1Dec 21, 2022
Hereditary cancer-predisposing syndrome2Jul 18, 2024
Hereditary factor IX deficiency disease1Dec 21, 2022
Hereditary factor VIII deficiency disease9Jul 18, 2024
Hereditary fructosuria3Dec 21, 2022
Hereditary lymphedema type I1Jul 18, 2024
Hereditary sensory and autonomic neuropathy type 61Dec 21, 2022
Hereditary sensory and autonomic neuropathy type 71Dec 21, 2022
Hereditary sensory neuropathy-deafness-dementia syndrome4Jul 18, 2024
Hereditary spastic paraplegia 102Jul 18, 2024
Hereditary spastic paraplegia 1114Jul 18, 2024
Hereditary spastic paraplegia 158Jul 18, 2024
Hereditary spastic paraplegia 21Jul 18, 2024
Hereditary spastic paraplegia 281Jul 18, 2024
Hereditary spastic paraplegia 301Jul 18, 2024
Hereditary spastic paraplegia 311Jul 18, 2024
Hereditary spastic paraplegia 352Dec 21, 2022
Hereditary spastic paraplegia 392Jul 18, 2024
Hereditary spastic paraplegia 3A4Jul 18, 2024
Hereditary spastic paraplegia 417Jul 18, 2024
Hereditary spastic paraplegia 474Jul 18, 2024
Hereditary spastic paraplegia 484Dec 21, 2022
Hereditary spastic paraplegia 501Jul 18, 2024
Hereditary spastic paraplegia 531Dec 21, 2022
Hereditary spastic paraplegia 541Jul 18, 2024
Hereditary spastic paraplegia 562Jul 18, 2024
Hereditary spastic paraplegia 5A1Dec 21, 2022
Hereditary spastic paraplegia 61Dec 21, 2022
Hereditary spastic paraplegia 71Dec 21, 2022
Hereditary spastic paraplegia 731Jul 18, 2024
Hereditary spastic paraplegia 742Dec 21, 2022
Hereditary spherocytosis type 21Oct 1, 2019
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX11Jul 18, 2024
Hereditary xanthinuria type 11Jul 18, 2024
Hermansky-Pudlak syndrome 11Jul 18, 2024
Hermansky-Pudlak syndrome 52Dec 21, 2022
Hermansky-Pudlak syndrome 62Jul 18, 2024
Heterotaxy, visceral, 1, X-linked4Jul 18, 2024
Heterotaxy, visceral, 5, autosomal2Jul 18, 2024
Heterotaxy, visceral, 8, autosomal2Dec 21, 2022
Heterotopia, periventricular, X-linked dominant1Dec 21, 2022
Hiatt-Neu-Cooper neurodevelopmental syndrome2Jul 18, 2024
Hidrotic ectodermal dysplasia syndrome1Jul 18, 2024
Hirschsprung disease, susceptibility to, 12Jul 18, 2024
Histiocytic medullary reticulosis1Jul 18, 2024
Hogue-Janssens syndrome 15Jul 18, 2024
Holocarboxylase synthetase deficiency2Dec 21, 2022
Holoprosencephaly 112Jul 18, 2024
Holoprosencephaly 34Jul 18, 2024
Holoprosencephaly 41Dec 21, 2022
Holoprosencephaly 52Jul 18, 2024
Holoprosencephaly 91Jul 18, 2024
Holt-Oram syndrome6Jul 18, 2024
Homocystinuria due to methylene tetrahydrofolate reductase deficiency6Jul 18, 2024
Houge-Janssens syndrome 21Jul 18, 2024
Houge-Janssens syndrome 32Jul 18, 2024
Hurler syndrome1Jul 18, 2024
Hydrocephalus, nonsyndromic, autosomal recessive 22Dec 21, 2022
Hydrolethalus syndrome 11Jul 18, 2024
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome2Dec 21, 2022
Hyper-IgM syndrome type 11Jul 18, 2024
Hyperaldosteronism, familial, type IV1Dec 21, 2022
Hypercalcemia, infantile, 11Jul 18, 2024
Hypercalcemia, infantile, 21Aug 30, 2020
Hypercholesterolemia, autosomal dominant, 31Dec 21, 2022
Hypercholesterolemia, familial, 15Dec 21, 2022
Hyperekplexia 32Jul 18, 2024
Hyperimmunoglobulin D with periodic fever1Jul 18, 2024
Hyperinsulinemic hypoglycemia, familial, 11Apr 4, 2023
Hyperinsulinemic hypoglycemia, familial, 42Dec 21, 2022
Hyperphosphatasia with intellectual disability syndrome 11Dec 21, 2022
Hyperphosphatasia with intellectual disability syndrome 21Dec 21, 2022
Hyperphosphatasia with intellectual disability syndrome 31Dec 21, 2022
Hyperphosphatasia with intellectual disability syndrome 42Dec 21, 2022
Hyperphosphatasia with intellectual disability syndrome 53Jul 18, 2024
Hypertrichotic osteochondrodysplasia Cantu type3Dec 21, 2022
Hypertrophic cardiomyopathy8Jul 18, 2024
Hypertrophic cardiomyopathy 17Jul 18, 2024
Hypertrophic cardiomyopathy 102Jul 18, 2024
Hypertrophic cardiomyopathy 11