Disease Term Disease ID Gene Symbol References
Supravalvular aortic stenosis C0003499 APOB
ELN 9215671, 9215670, 16085695, 17037986, 19844261, 11175284, 20007321, 10190324, 8096434, 22740173, 10942104
GTF2I
LDLR
LIMK1
PTPN11
RFC2
CLIP2
BAZ1B
GTF2IRD1
FBLN5
LDLRAP1
TBL2
MLXIPL
ABCG5
ABCG8
PCSK9
ELN-AS1 9215671