Disease Term Disease ID Gene Symbol References
Congenital exomphalos C1306503 ACTG2
AEBP1
AGA
ARSB
ARVCF
ATP7A
ATRX
BRCA1
BRCA2
C1S
CDH11
CHRNA7 22473653
CHRNG
COL1A1
COL2A1
COL3A1
COL5A1
COL5A2
COMT
NKX2-5
DNMT3A
DNMT3B
SLC26A2
DVL1
DVL3
EFNB1
MEGF8
ELN
ERCC2
ERCC3
ERCC4
EZH2
FANCA
FANCC
FANCD2
FANCE
FANCB
FANCF
FANCG
FBN1
GPC4
FGD1
FGFR2
FOXE3
FLNA
MTOR
FZD2
GATA6
GJA1
GPC3
GLI3
GLRA1
GLRB
GNAO1
GP1BB
GTF2E2
GTF2I
GUSB
HELLS
HSPG2
IDS
IDUA
INSR
IRF6
ISL1
KCNA1
KCNH1
KCNJ8
LBR
LFNG
LIMK1
LRP2
SMAD3
MSX1
MYH3
MYH11
MYLK
NEUROD2
NFIX
NOTCH2
NOTCH3
ROR2
OCRL
PCSK5 18519639
PLAGL1
POU1F1
PPP2CA
PROP1
MASP1
PTCH1
NECTIN1
ALDH18A1
RAC1
RAD51
RAD51C
RFC2
RREB1
SALL1
SCN2A
SKI
SLC5A5
CDKL5
STXBP1
TBX1
TG
THRA
THRB
TPO
TRHR
TSHB
TSHR
HIRA
UFD1
CLIP2
WNT5A
XRCC2
RNF113A
PAX8
LHX3
TRRAP
LTBP4
IKBKG
CASK
TP63
EED
HESX1
BAZ1B
PIGQ
SLC6A5
TRIP11
ADAMTS2
GTF2IRD1
SEC24C
SEMA3E
HDAC4
ZBTB24
MED12
ABCC9
GPC6
GPHN
MAD2L2
FBLN5
AGPAT2
COLEC10
DLL3
MAPRE2
PNKP
SPECC1L
ADNP
GRIP1
TGDS
ATP6V0A2
LMOD1
SETBP1
AUTS2
PHGDH
BSCL2
TBL2
UBE2T
SLC25A24
DUOX2
NSDHL
GMNN
PIGP
MBTPS2
RAB23
RIN2
TMEM70
FANCL
RFWD3
FANCI
CHD7
PACS1
HYMAI
ARID1B
FANCM
ELMO2
NXN
PORCN
BCL11B
COLEC11
FTO
GNPTAB
PALB2
SLC25A22
SNIP1
FRAS1
SLC2A10
TRIM8
CDCA7
BRIP1
ANTXR1
TRAF7
SLX4
HES7
ATAD1
SHANK3
LHX4
PIGS
CHST14
TWIST2
RIPPLY2
MPLKIP
B3GLCT
MESP2
CCBE1
CLDN19
SIK1
ARX
TUBB
JMJD1C
NALCN
SH3PXD2B
FREM2
KIF7
IYD
GTF2H5
DUOXA2