Disease Term Disease ID Gene Symbol References
Exophthalmos C0015300 JAG1
AKT1
ALPL
APC
BGN
BRCA1
BRAF
BRCA2
CDH11
CDKN1C
COL1A1
COL2A1
COL3A1
COL11A1
COL11A2
CREBBP
NKX2-5
CTBP1
CTLA4
CTSK
DHCR7
DMD
DYNC1I2
DVL1
DVL3
EP300
ERCC4
ERF
FANCA
FANCC
FANCD2
FANCE
FANCB
FANCF
FANCG
FBN1
FGFR1
FGFR3
FGFR2
FOXC1
FLI1
FLNA
FLNB
FZD2
GATA4
GATA6
GDF1
GJA5
HLA-DPA1
HLA-DPB1
IGF2
INSR
KCNJ6
KCNQ1
KRAS
LETM1
LMNA
LRP2
LRP4
ATXN3
MMP2
MUSK
MYD88
NF2
NFIX
NOTCH3
NRAS
ROR2
DDR2
P4HB
PDGFB
PDGFRB
PEPD
POLD1
POR
PPP2CA
PRTN3
PTEN
PTH1R
PTPN11
RAD51
RAD51C
RAF1
RASA2
RIT1
RRAS
SH3BP2
SHH
SKI
SLC16A2
SMARCB1
SMS
SOS1
SOS2
SOX9
TAF1
TBX1
TCF12
TGFB1
TGFB3
TGFBR1
TGFBR2
THRB
TSHR
TWIST1
WHCR
NSD2
NELFA
WNT5A
XRCC2
ZIC1
LZTR1
NAA10
CDC45
MATN4
TNFRSF11A
BANF1
HERC1 27108999
RECQL4
CRIPT
TTC37
SEC24D
FIG4
MAFB
HUWE1
ZMPSTE24
CITED2
MAD2L2
CRTAP
STAG2
WDR4
CPLX1
CLP1
KCNQ1OT1
B4GALT7
MRAS
EXOC6B
SPECC1L
ZFPM2
KAT6B
NIPBL
COG4
RTTN
PARS2
AUTS2
TCTN3
ABCA12
PTPN22
PHGDH
AFF4
PCLO
IFT81
UBE2T
SLC25A24
PSAT1
EFEMP2
CDON
SOST
NBAS
SUFU
FGFRL1
NDE1
BPNT2
FANCL
RFWD3
FANCI
ASXL2
SLC29A3
VAC14
KLHL7
ALG1
FAM20C
FANCM
NLRC4
PRUNE1
ELMO2
XYLT1
P3H1
NXN
GZF1
PALB2
ALG9
ITCH
BRIP1
SLX4
SLC39A13
NLRP3
CANT1
B3GALT6
NKX2-6
GATA5
A2ML1
CKAP2L
ESCO2
ASXL1
ASPM
H19
SH3PXD2B
RNU4ATAC
H19-ICR