Disease Term Disease ID Gene Symbol References
Frontal bossing C0221354 ABL1 28288113
ACO2
ACOX1
ADK
ACAN
ALPL
APC
ATIC
RERE
BGN
BMPR1A
BRCA1
BRAF
BRCA2
BUB1
BUB1B
RUNX2
CBL
CDKN1C
CHD1
CHD3
CHRNA7
CLCN7
COL1A1
COL1A2
COL2A1
COL10A1
COL11A1
CREBBP
CTBP1
CTNS
CTSK
CYP27B1
DHCR24
DLX3
SLC26A2
DVL1
DVL3
EDA
EFNB1
EP300
EPB41
ERCC4
ERF
FANCA
FANCC
FANCD2
FANCE
FANCB
FANCF
FANCG
FBN1
FBN2
FGFR1
FGFR3
FGFR2
FH
FLI1
FLII
FLNA
FLNB
FMR1
MTOR
FUCA1
FZD2
GABRD
GJA1
GJA5
GJA8
GK
GLB1
GLI3
GNS
GRIN1
GYPC
H3-3A
HBA1
HBA2
HBB
HNRNPU
HOXD13
HRAS
HSD17B4
IDUA
IGF2
INPPL1
KCNJ1
KIF22
KRAS
LBR
LETM1
LIFR
LRP4
LRP5
MAN2B1
MID1
MITF
KMT2A
MMP2
ALDH6A1
MOCS1
MOCS2
MSX2
TRIM37
NEU1
NF1
NFIX
NFKBIA
TONSL
NID1
NONO
NPR2
NRAS
ROR2
DDR2
OCRL
OPHN1
SIX6
ORC1
P4HB
PAFAH1B1
PAK1
PDE6D
PDHA1
PEX7
PHEX
PIK3CA
PIK3R1
PIK3R2
POLE
POR
POU1F1
PPM1B
MAP2K1
MAP2K2
PTCH1
PTEN
PTHLH
PEX5
PYCR1
ALDH18A1
RAD51
RAD51C
RPS6KA3
SCN1A
SCN8A
SKI
SLC3A1
SON
SOX2
SOX5
SPTA1
SPTB
STAT3
TBCE
TBX15
TCF12
TCF20
TCOF1
TGFB1
TRPS1
TWIST1
VDR
NSD2
NELFA
WNT5A
XRCC2
YWHAE
ZIC1
PCGF2
ZNF148
HMGA2
NAA10
PLA2G6
OFD1
CNTNAP1 27668699
KCNAB2
IKBKG
PTCH2
MPDZ
HERC1
KYNU 28792876
AIP
BUB3
TRIP13
TRIP11
NRXN1
RECQL4
CRIPT
CHST3
PIGL
TBX4
POLR1C
PREPL
TTC37
CEP57
IFT140
HDAC4
KIAA0586
PTDSS1
CUL7 30980518
KIAA0753
SEC24D
WASHC5
MED12
HDAC6
GNE
GPC6
CWC27
APC2
TCIRG1
MAD2L2
SEC23A
DEAF1
EBP
STAG2
SIX2
RAI1
EDAR
POLR3A
KPTN
MAN1B1
KDM1A
IQSEC2
KATNIP
DENND5A
SATB2
OBSL1 30980518
SPECC1L
SIK3
MED13L
DICER1
ATP6V0A2
PIGN
LEMD3
AMACR
COG4
SETBP1
CNTNAP2
TCTN3
B3GAT3
INTU
CCDC22
SETD2
UBE2T
ANKRD11
SNX10
DSE
SOST
PAM16
GMNN 26637980
POLR1D
IFT52
TMEM216
MBTPS2
ACTL6B 31134736
SUFU
PRMT7
MAGEL2
NCAPG2
DYNC2I1
FANCL
RFWD3
ATAD3A
FANCI
RNPC3
IFT122
MBD5
GATAD2B
TBC1D24
ARID1B
WDR35
IFT80
FANCM
WDR19
NLRC4
EDA2R
ALX4
PRDM16
SMOC1
NSD1
NXN
UPF3B
CPLANE1
DYNC2H1
PALB2
ALG9
CAMKMT
CSPP1
B9D2
DDX59
GPR101
ITCH
SPRTN
CCDC8
BRIP1
ANTXR1
SLX4
DYNC2I2
KLC4 30980518
IFT43
C12orf57
NLRP3
RAB39B
CYP2R1
EDARADD
AMER1
SLC34A3
B3GLCT
CKAP2L
POLR3H
ARID2
BRWD3
H19
UNC80
FAM149B1
KIF7
D2HGDH
CRPPA
SCN1A-AS1