Disease Term Disease ID Gene Symbol References
Ventricular Septal Defects C0018818 ABL1
ACADVL
ACVR2B
JAG1
ARCN1
ARVCF
ATRX
BCR
BRAF
MYRF
CACNA1D
CAMK2A 29100089
CCND2
CHRM3
COL11A2
COMT
COX7B
COX15
CREBBP
CRKL
NKX2-5
CTBP1
DDX11
DHCR7
DPH1
ATN1
DTNA
DVL3
ECE1
ECHS1
ELN
EP300
EPO 19337937
ERCC2
ERCC3
EVC
EXT2
FBN1
FBN2
GPC4
FGFR1
FGFR2
FOXF1
FOXC2
FLI1
FLNB
GATA4
GATA6 24385578
GDF1
GJA1
GPC3
GLI1
GLI3
GNAO1
GP1BB
GTF2E2
GTF2I
HCCS
HNRNPK
HOXA13
HRAS
IGBP1
IGF1R
KCNA1
KRAS
LETM1
LIMK1
LRP2
LRP5
LTBP2
MEIS2
MEOX1
MGAT2
MGP
KMT2A
MMP2
MMP14
NDUFA2
NDUFA4
NDUFA9
NDUFA10
NDUFS1
NDUFS2
NDUFS3
NDUFV1
NDUFS4
NDUFS8
NDUFV2
NEUROD2
NODAL
NONO
NOTCH2
NOTCH3
ROR2
SIX6
PAH
PCSK5 18519639
PDHA1
PEX1
PEX6
PEX10
PEX12
PEX13
PEX14
PIK3CA
PIK3R2
PLAGL1
POLA1
PPP1CB
MAPK1
MAP2K1
MASP1
PTPN11
PEX19
PEX2
PEX5
RAC1
RAD21
RAF1 17603482, 17603483
RFC2
RIT1
RPL5
RPL11
RPL15
RPL35A
RPS6KA3
RREB1
SCN2A
SCN4A 19065518, 15596759
SDHA
SKIV2L
SLC25A1
SMN1
SNRPB
SOS1 17586837, 20683980, 19953625, 19020799, 21387466
SOX2
SOX4 30661772
STIM1
CDKL5
STXBP1
SURF1
TALDO1
TBX1
TBX5 29555671
TBX3
TFAP2B
NR2F2
NKX2-1
TKT
HIRA
UBE2A
UFD1
KDM6A
CLIP2
WHCR
NSD2
WT1
YES1 24478334
ZIC3
RNF113A
KAT6A
SHOC2
KMT2D 26938784
MKKS
DGCR6
ESS2
SMC1A
NAA10
ARID1A
CDC45
PEX3
CASK
CDK13
TP63
FADD
PEX11B
BAZ1B
PIGQ
SMC3
EFTUD2
LONP1
NRXN1
PEX16
CHST3
PIGL
GTF2IRD1
GDF3
SEC24C
TTC37
CEP57
SEMA3E
TMEM94
ZEB2
FIG4
WASHC5
MED12
DGCR2
AKT3
GPC6
PQBP1
CD96
TRAIP
CITED2
SLC19A2
STAMBP
CPLX1
TXNL4A
PNKP
PUF60
TAB2
SPECC1L
LARS2
TGDS
KAT6B
NIPBL
AAR2
C2CD3
CNTNAP2
TCTN3
PHGDH
VPS33B
TBL2
CCDC22
IFT81
ANKRD11
IRX4 21544582
NDUFA13
TACO1
PIGP
CCDC174
LIPT1
DYNC2LI1
OTUD6B
RAB23
FGFRL1
WNT4
DGCR8
NDUFB11
DLL4
AHI1
BCOR
TMEM260
DYNC2I1
SETD5
FANCI
YY1AP1
SLC29A3
FOXRED1
CHD7
PEX26
PACS1
VAC14
HDAC8
NDUFA12
SMG9
HYMAI
SALL4 30067223
TTC7A 26938784
ARID1B
ARHGAP31
VIPAS39
PIEZO2
XYLT1
XYLT2
STRA6
NSD1
NXN
PORCN
FTO
NDUFAF5
THOC6
PALB2
SLC25A22
FRAS1
CEP290
SLC19A3
TRIM8
ADAMTS10
UBE3B
NEK9
NDUFAF2
FOXP4
MTFMT
CANT1
B3GALT6
EVC2
MPLKIP
NDUFAF6
AMER1
GATA5
B3GLCT
CCBE1
SIK1
CKAP2L
CEP120
ESCO2
VPS13B
PKD1L1
ARX
ASXL1
UBR1
TAPT1
HYLS1
JMJD1C
KANSL1
STPG4 26938784
RSPO2
FREM2
CTU2
NDUFS7
GDF6
GTF2H5
PET100
Perimembranous ventricular septal defect C0344925 ATRX
BMP2
GATA6
RAD21
ZEB2
CITED2
VENTRICULAR SEPTAL DEFECT 3 C3280785 NKX2-5 21165553, 21110066
VENTRICULAR SEPTAL DEFECT 1 C3280777 GATA4 21637914, 21110066, 18672102, 22101736
VENTRICULAR SEPTAL DEFECT 2 C3280783 CITED2