Congenital heart disease

Disease Term Disease ID Gene Symbol Classification References Source
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4
C4014310615779MONDO:0014344OMIM:615779
BMP7 Causal — Disgenet
CRELD1 Causal — Disgenet
NR2F2 Causal
10215630 24702954 26633542 29089047
CTD ClinVar Disgenet HPO
XIRP2 Unknown — Disgenet
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
617912C4693563MONDO:0060663
GATA5 Causal
23031282 23289003 27066509 28372585
ClinVar Disgenet GWAS catalog HPO
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6
C3151221613854MONDO:0013463OMIM:613854
CERS1 Causal — Disgenet
GDF1 Causal — CTD ClinVar Disgenet GenCC HPO
UPF1 Unknown — Disgenet
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7
618780C5394062MONDO:0032913
FLT4 Causal
28991257 30232381 30582441 33142350 34905512 7724599 8245783 9794766
ClinGen ClinVar Disgenet GWAS catalog HPO
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY
619657C5562042MONDO:0859213
SMAD2 Causal
23665959 29967133 30157302
ClinVar Disgenet HPO Orphanet
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9
620294C5830367MONDO:0859532
PLXND1 Causal
24254849 35396997
ClinVar Disgenet GWAS catalog HPO
CONGENITAL HEART DISEASE
C0152021MONDO:0005453EFO_0005207
ABL1 Causal — Disgenet
DNAH9 Causal — Disgenet
GATA4 Causal — Disgenet
MYL2 Causal — Disgenet
NKX2-5 Causal — Disgenet
RECQL4 Causal — Disgenet
RIT1 Causal — Disgenet
ACVR1 Unknown
15226263 16140292 19506109 22536403
ClinGen Disgenet GWAS catalog
ADAM17 Unknown
27058611 30610007 33957124 9812885
ClinGen Disgenet GWAS catalog
ADAM29 Unknown
28468790
GWAS catalog
ADAMTS19 Unknown
31844321 32323311
ClinGen Disgenet GWAS catalog
AHR Unknown
28468790
GWAS catalog
ANKRD1 Unknown
18956313 30659708 31688894
ClinGen Disgenet GWAS catalog
AP3S1 Unknown
35451555
GWAS catalog
ASGR2 Unknown
28468790
GWAS catalog
ATE1 Unknown — ClinGen Disgenet
BCL9 Unknown
32368696 33084842
ClinGen Disgenet GWAS catalog
BMP10 Unknown
23715323 26056270 35737725
ClinGen Disgenet GWAS catalog
BMPR2 Unknown
12441304 19409885 23352489 27002414 27788187 28991257 33448881 35910219
ClinGen Disgenet GWAS catalog
CAPN11 Unknown
35451555
GWAS catalog
CAPN15 Unknown — Disgenet
CARTPT Unknown
28468790
GWAS catalog
CASZ1 Unknown
25190801 27693370 28641477
ClinGen Disgenet GWAS catalog
CDH13 Unknown
28468790
GWAS catalog
CDH2 Unknown
31585109 31650526
Disgenet GWAS catalog
CHRD Unknown
15254540 27058611
ClinGen Disgenet GWAS catalog
CITED2 Unknown
11044621 11694877 11823447 12149478 15475956 15750185 17133411 18440989 21224256 22504313 22761414 23082118 23899608 24456003 24848765 27818139 28436679 28687891 31378782 31515672
ClinGen Disgenet GWAS catalog
CLEC10A Unknown
28468790
GWAS catalog
COL1A1 Unknown — Disgenet
COL1A2 Unknown — ClinGen Disgenet
CRELD1 Unknown
12632326 15857420 18076106 21080147 21413875 22740159 24697899 24927998 25328912 28798025 29054759 33773999 34328347 36011280
ClinGen ClinVar Disgenet
CRIPTO Unknown
19853938 24069547 7916676
ClinGen Disgenet GWAS catalog
CRKL Unknown — Disgenet
CSRP1 Unknown — ClinGen Disgenet
CTNNA3 Unknown — ClinGen Disgenet
CTSG Unknown
28468790
GWAS catalog
DAND5 Unknown — ClinGen Disgenet
DCAF4L2 Unknown
28468790
GWAS catalog
DCHS1 Unknown — ClinGen Disgenet