Congenital hemivertebra

Disease Term Disease ID Gene Symbol Classification References Source
CONGENITAL HEART DISEASE
EFO_0005207C0152021MONDO:0005453
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
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