Disease Term Disease ID Gene Symbol References
Congenital Heart Defects C0018798 ABL1 28288113
JAG1 12442286, 10220506, 15712272, 9207788, 12022040
AHR 19261855
CAV3 21082655
CBFB 17022082
CHRM3
COL3A1
RCAN1 15906378
ECE1 9915973, 9449665
EDN1 9671575
EDNRA 9811577
EYA1 15493068
FANCA
FANCC
FANCD2
FANCE
FGFR2
FOLR1 17286298
GATA3
GCK
GDF1 28991257
GLI3
GNA11 9687499
GNAQ 9687499
GP1BB 15213848
HIF1A 26073000
HOXA1 21940751
HOXA3 1673020
INS
PDX1
KCNJ11
MEIS2 30055086
MID1
MTHFR 16524890
MYH6 28991257
NPPB 16014188
PDE6D
ABCB1 23874772
PITX2 10499585
PLAGL1
POU5F1 26507003
PEX2
PEX5
RAD51C
SAA1
SMARCA4
SMARCB1
SOX9
STAT3
ABCC8
TBX1 17000704
TCOF1
TGFB2 9217007
THAS 2139758, 4039891
TWIST1
UFD1 10024240
VEGFA 26073000
ARID1A
TRRAP 28628100, 30424743
OFD1
DCHS1
SLC7A7
KLF4 20439457
RECQL4
EIF2AK3
HAND2 9671575
TMEM94 30526868
ZEB2 17478475
KIAA0753
MED12
IRX5 22581230
EBP
CERS1
STAG2 25450604
RAI1
CIT
POGZ
BRD4 30302754
NIPBL 19763162
SETBP1
TCTN3
AFF4 25730767
SLC25A24
TMEM216
LRP1B 28468790
SLC29A3 20140240
MAML3 23708190
PIGV
HYMAI
STRA6 17273977
LMBR1
CPLANE1
FAT4
ALG9
FRAS1
TRAF7 25961944
COG7
FAM149B1
ZFP57
KIF7
STX18-AS1 23708191
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 C3151221 GDF1 17924340, 28991257
CERS1
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 C4014310 NR2F2 24702954
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED C3151867 ZIC3
MAML3 23708190
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2 C3554279 TAB2 20493459, 28135719
MAML3 23708190
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 C4693563 GATA5 24573614, 22641149, 22961344, 23289003, 23031282, 23175127, 23295592, 24638895, 25543888, 22483626