Disease Term Disease ID Gene Symbol References
Cardiovascular Abnormalities C0243050 AGT 25807386
AKT1
ASCL1
COL6A1
COL6A2
COL6A3
DDX6 31422817
SLC26A3
ATN1 30827498
DSP
EDN1 20707411
EDN3
FGF8 16720880
FOXC2 9409679
FLI1
FLNB
GATA2 20707411
GDNF
HIC1
IGF2
TRNE
MYH7
NF1
NOS2 19587355
PAFAH1B1
PIK3CA
PRKCSH
PTPN11
PYGM
RET
SOS1
TF
YWHAE
PCGF2 30343942
PHOX2B
APC2 22573669
WDR37 31327508
ZNF292 29904178
TRMU
ZMIZ1 27479843, 26163108
SMOC1
STRA6 18316031
KAT8 31794431
DIS3L2
FLCN
ANKS6 23793029
H19
CRPPA