Aortic valve disease

Disease Term Disease ID Gene Symbol Classification References Source
AORTIC VALVE DISEASE 2 C3542024 SMAD6 Causal Pathogenic evidence from ClinVar 22275001, 30963242 ClinVar
TBX5 Causal Pathogenic evidence from ClinVar 8988164, 8988165, 10077612, 10077762, 11555635, 12499378, 12789647, 15710732, 16183809, 16380715, 16917909, 17534187, 20519243, 21637475, 25500235, 25931334 ClinVar
Aortic valve disorder C1260873 SMAD6 Causal Pathogenic evidence from ClinVar 22275001 ClinVar
GATA5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24638895 -
NKX2-5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25438918 -
NOTCH1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16025100 -