Congenital heart disease

Disease Term Disease ID Gene Symbol Classification References Source
CONGENITAL HEART DEFECTS
C0018798
NIPBL Unknown — Disgenet
NKX2-5 Unknown — Disgenet
NONO Unknown — Disgenet
NOTCH1 Unknown — Disgenet
NPHP4 Unknown — Disgenet
NPPB Unknown — Disgenet
PITX2 Unknown — Disgenet
POU5F1 Unknown — Disgenet
PRKD1 Unknown — Disgenet
PUS3 Unknown — Disgenet
RBFOX2 Unknown — Disgenet
RCAN1 Unknown — Disgenet
RFC1 Unknown — Disgenet
RNF41 Unknown — Disgenet
ROBO1 Unknown — Disgenet
RYR2 Unknown — Disgenet
SETD5 Unknown — Disgenet
SLC29A3 Unknown — Disgenet
SMAD6 Unknown — Disgenet
SP4 Unknown — Disgenet
STRA6 Unknown — Disgenet
TAB2 Unknown — Disgenet
TAF1 Unknown — Disgenet
TBX1 Unknown — Disgenet
TBX20 Unknown — Disgenet
TBX5 Unknown — Disgenet
TGFB2 Unknown — Disgenet
TLL1 Unknown — Disgenet
UFD1 Unknown — Disgenet
VEGFA Unknown — Disgenet
ZEB2 Unknown — Disgenet
ZRSR2 Unknown — Disgenet
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
617364C4479250MONDO:0044303OMIM:617364
PRKD1 Causal
19303466 21441262 22968132 23401328 27479907 29396177 29920362 31042289 31848144 32817298
CTD ClinVar Disgenet HPO
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
617602C4539857MONDO:0060532
ABL1 Causal
28288113 32643838
ClinVar Disgenet GWAS catalog HPO
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
617360C4479246MONDO:0044302OMIM:617360
CDK13 Causal
27479907 29393965 29222009 29021403 28807008 31883531 35063350 35651941 36599938 37351084
CTD ClinVar Disgenet GWAS catalog HPO
CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY
217085
WDPCP Unknown — HPO
CONGENITAL HEART DEFECTS, MULTIPLE TYPE S
MONDO:0000119
ANKRD11 Unknown — GenCC
ASB17 Unknown — GenCC
BMPR1A Unknown — GenCC
CITED2 Unknown — GenCC
DLC1 Unknown — GenCC
FGF10 Unknown — GenCC
HAND2 Unknown — GenCC
MCTP2 Unknown — GenCC
PRKD1 Unknown — GenCC
RBFOX2 Unknown — GenCC
SMAD6 Unknown — GenCC
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
C3151867
ZIC3 Causal — Disgenet
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2
614980C3554279MONDO:0014000OMIM:614980
TAB2 Causal — CTD ClinVar Disgenet GenCC HPO
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 3
C3554194
CHEK2 Causal — Disgenet