Disease Term Disease ID Gene Symbol References
Aortic valve disorder C1260873 NKX2-5 25438918
SMAD6 22275001
NOTCH1 16025100
GATA5 24638895
AORTIC VALVE DISEASE 2 C3542024 SMAD6 30963242, 22275001
TBX5 16917909, 10077612, 11555635, 12499378, 8988164, 16183809, 20519243, 21637475, 8988165, 10077762, 17534187, 25500235, 12789647, 15710732, 25931334, 16380715