Congenital heart disease

Disease Term Disease ID Gene Symbol Classification References Source
CONGENITAL HEART DISEASE
C0152021MONDO:0005453EFO_0005207
PDGFRA Unknown
20071345 33084842
ClinGen ClinVar Disgenet
POLR2B Unknown
28468790
GWAS catalog
PRKD1 Unknown
25713110 31130284 31784580 38419169
CTD ClinGen Disgenet
PROX1 Unknown — ClinGen Disgenet
PRSS12 Unknown
28468790
GWAS catalog
PTCH1 Unknown — Disgenet
RAI2 Unknown — ClinGen Disgenet
RBFOX2 Unknown
21925157 24151077 26785492 27211866 27485310 28991257 31241461 31778749 32807990 35137168 36198703
ClinGen Disgenet GWAS catalog
RNF40 Unknown
28991257 31235600
ClinGen Disgenet GenCC
ROBO1 Unknown
16360689 18663139 20941780 21385766 23255421 23328398 25691540 28592524
ClinGen Disgenet GWAS catalog
ROCK2 Unknown
28554332 30622330 31941532
ClinGen Disgenet GWAS catalog
RPRML Unknown
38454350
GWAS catalog
RXRA Unknown — Disgenet
SCHIP1 Unknown
28468790
GWAS catalog
SCN5A Unknown — ClinGen Disgenet
SLC44A2 Unknown
35451555
GWAS catalog
SMAD1 Unknown
32934261 35281600
CTD ClinGen Disgenet
SMAD2 Unknown
12432092 15528466 18952608 19064609 23665959 23899608 24064296 26821812 28991257 29786156 30157302 33801433 34328347 34666056 35894043
ClinGen Disgenet Orphanet
SMAD7 Unknown
10906784 18952608 20457144 24039762
ClinGen ClinVar Disgenet
SNAI1 Unknown
28880281 30448225 32368696
ClinGen Disgenet GWAS catalog
SORBS2 Unknown — Disgenet GenCC
SOX7 Unknown
33846290 35260939 35422912 37000005 37406974
ClinGen Disgenet GWAS catalog
SRF Unknown
11514558 15169892 15569937 15591049 15929941 32380971 35885997
ClinGen Disgenet GWAS catalog
SYNPR Unknown
28468790
GWAS catalog
TBX20 Unknown
14550786 15843414 17668378 18834961 19494035 19762328 22328084 25183037 27510170 28553164 37481008
ClinGen Disgenet Orphanet
TCF21 Unknown — Disgenet
TENT5D Unknown
35451555
GWAS catalog
TLL1 Unknown
10331975 18830233 19366374 26744331 30293987 31570783
ClinGen Disgenet Orphanet
UGDH Unknown — ClinGen Disgenet
USP34 Unknown
23665959 27843126 29555671 30800044 32368696 33995476
ClinGen Disgenet GWAS catalog
USP43 Unknown — Disgenet
USP44 Unknown
27796757 32368696 33084842 35373735
ClinGen Disgenet GWAS catalog
VEGFA Unknown
25411445 29261186 30232381 38161429
ClinGen Disgenet GWAS catalog
WDR5 Unknown
18932069 30377171 33131162 33442022
ClinGen Disgenet
YTHDC2 Unknown
33201861
GWAS catalog
ZFPM1 Unknown
14614148 16316643 28422132 30293987 34328347
ClinGen Disgenet HPO