Disease Term Disease ID Gene Symbol References
Tetralogy of Fallot C0039685, 3303 JAG1 11152664, 20437614, 21893051
ALX3
ARVCF
RERE
BRCA1
BRAF
BRCA2
MYRF
CHD4
CHRM3
COL2A1
COMT
NKX2-5 10587520, 14607454, 29045289, 11714651
ELN
EPHB4 19597493, 27760138
ERCC4
FANCA
FANCC
FANCD2
FANCE
FANCB
FANCF
FANCG
FGF8
FGFR1
GPC5 23297363
FOXF1
FOXC1 25093829
FOXC2 25093829
FLT4 28991257
FN1
GABRD
GAS1
GATA4 18672102, 24000169, 21110066
GATA6 24385578, 20581743, 20631719
GDF1 17924340, 28991257
GJA5 22713807
GLI2
GP1BB
GTF2I
RBPJ
LIMK1
COX1
COX2
COX3
NID1
NODAL
NOTCH1 19597493, 27760138
NOTCH2
ROR2
PAH
PTCH1
PTPN11 23297363
RAD51
RAD51C
RET
RFC2
RPL5
RREB1
SALL1
ATXN2 23297363
SHH
SIX3
SKI
SKIV2L
TBX1 25093829, 20937753
TDGF1
NR2F2
TGIF1
TPM1 28359939
HIRA
UBE2A
UFD1
SLC35A2
CLIP2
WT1
XRCC2
ZIC2
CXCR4
ALX1
MKKS
RBM10
KCNAB2
NRP1 23297363
FOXH1 25093829
BAZ1B
HAND2 25093829
PIGL
GTF2IRD1
SEC24C
TTC37
SEMA3E
TMEM94
FIG4
WASHC5
RBM8A
SH2B3 23297363
PQBP1
SF3B4
CITED2
MAD2L2
CERS1
RPH3A 23297363
TAB2
SPECC1L
ZFPM2 20807224, 16103912, 24702427, 14517948
PIGN
NIPBL
HIBCH
TBL2
INTU
DLL1
CCDC22
UBE2T
CDON
DACT1
SUFU
RAB23
DLL4
FANCL
RFWD3
FANCI
CHD7
VAC14
HDAC8
SALL4
ARID1B
ARHGAP31
DOCK6
FANCM
PRDM16
STRA6
NXN
CRELD1
PALB2
EHMT1
NAA25 23297363
DDX59
BRIP1
SLX4
DISP1
NKX2-6 25195019
GATA5 23289003
JMJD1C
HECTD4 23297363
EOGT
RNU4ATAC
ZFPM2-AS1
LINC02676 23297363