Congenital heart disease

Disease Term Disease ID Gene Symbol Classification References Source
CONGENITAL HEART DISEASE
EFO_0005207C0152021MONDO:0005453
DRD3 Unknown
28468790
GWAS catalog
DTNA Unknown — ClinGen Disgenet
ETS1 Unknown
12915311 19942620 25205790 31160359 32368696 32810435
ClinGen Disgenet GWAS catalog
FBLN2 Unknown
11507771 21743496 33084842 7851641
CTD ClinGen Disgenet
FBXO33 Unknown
28468790
GWAS catalog
FGF8 Unknown
10603341 12223415 19509466 32664970 7768185 9462741
ClinGen Disgenet GWAS catalog
FMO5 Unknown — ClinGen Disgenet
FOXL1 Unknown — ClinGen Disgenet
FOXP1 Unknown — ClinGen Disgenet
FOXP2 Unknown
28468790
GWAS catalog
GJA1 Unknown
12064615 12881038 15978203 19615768
CTD ClinGen Disgenet
GJA5 Unknown — ClinGen Disgenet
GOSR2 Unknown
38454350
GWAS catalog
HAND1 Unknown
17050624 22032825 25050861 27942761 28112363 30759401 31286141 31341279 33757801 34019794 34446706 7649392 8533092
ClinGen Disgenet GWAS catalog
HAS2 Unknown
10930438 24558368
ClinGen Disgenet GWAS catalog
HDAC1 Unknown — ClinGen Disgenet
HEY1 Unknown — ClinGen Disgenet
HEY2 Unknown
16199874 32368696 32820247
ClinGen Disgenet GWAS catalog
HTR1B Unknown
35451555
GWAS catalog
ID2 Unknown — ClinGen Disgenet
IQCJ Unknown
28468790
GWAS catalog
IQCJ-SCHIP1 Unknown
28468790
GWAS catalog
IRX4 Unknown
21544582
CTD ClinGen Disgenet
ISL1 Unknown
14667410 19571884 25077177 30390123 31024170 31484864 32820510 34260301
ClinGen Disgenet GWAS catalog
KCNJ2 Unknown — Disgenet
KCNN2 Unknown
33201861
GWAS catalog
KDM5A Unknown
23665959 28991257 29555671 33084842
ClinGen Disgenet
KIF20A Unknown
29357359
ClinGen Disgenet GWAS catalog
KLF13 Unknown
17053787 28164238 32293321 33215447 35369534
ClinGen Disgenet GWAS catalog
LEFTY2 Unknown — ClinGen Disgenet
LNPK Unknown
28468790
GWAS catalog
LRP1B Unknown
28468790
GWAS catalog
LRP2 Unknown — Disgenet
LTBP1 Unknown — Disgenet
MAML2 Unknown — Disgenet
MAP1B Unknown
28468790
GWAS catalog
MED13L Unknown
14638541 32368696
ClinGen Disgenet GWAS catalog
MESP1 Unknown
10393122 26694203 28677747 36413948
ClinGen Disgenet
MS4A12 Unknown
28468790
GWAS catalog
MS4A13 Unknown
28468790
GWAS catalog
MYBPC3 Unknown
22194935 27418595 28315668 28991257 31440271 33209723 34670123 35146008 35885957
CTD ClinGen Disgenet
MYH11 Unknown
28512736 32859249 33084842
ClinGen Disgenet Orphanet
MYH7 Unknown
33309763 35491958 35993536
ClinGen Disgenet
NFATC1 Unknown — ClinGen Disgenet
NFATC2 Unknown — ClinGen Disgenet
NKX2-6 Unknown
15649947 24421281 32198970
ClinGen Disgenet GWAS catalog
NRP1 Unknown
12852851 25713110
ClinGen Disgenet GWAS catalog
NTRK3 Unknown — ClinGen Disgenet
OSR1 Unknown — ClinGen Disgenet
PCSK6 Unknown — Disgenet