Disease Term Disease ID Gene Symbol References
Byzanthine arch palate C0240635 ABL1
ACTA1
AEBP1
AKT1
BIN1
ANK1
APC
ABCC6
ARCN1
ATP6V1A
ATP6V1B2
ATP6V1E1
ATP7A
ATR
ATRX
BBS1
BMP2
BMP4
FOXL2
BRCA1
BRAF
BRCA2
MYRF
TMEM258
CACNA1C
CBS
CD79A
CD79B
CDH11
CFL2
CHAT
CHRNA1
CHRNB1
CHRND
CHRNE
CHRNG
CLTC
CNTN1
COL6A1
COL6A2
COL6A3
COL11A1
COL12A1
COL13A1
COX6B1
COX8A
COX10
CPT2
CREBBP
CSNK2A1
CTBP1
CTNNB1
CTNND2
DBH
DDX11
DHPS
DOCK3
DPAGT1
DVL1
DVL3
ECM1
EFNB1
MEGF8
EP300
ERCC4
EYA1
FANCA
FANCC
FANCD2
FANCE
BPTF 28942966
FANCB
FANCF
FANCG
FBN1
FBN2
FGF8
FGFR1
FGFR2
FH
FLNA
FLNB
FUT8
GATA4
GBA
GFPT1
GLE1
GNB1
HBA1
HBA2
HNRNPH2
HNRNPK
HNRNPU
HPGD
HRAS
HSD17B4
HSPA9
HSPG2
IGBP1
IGF1R
IGHM
IGLL1
INSR
ITGA7
ANOS1
KCNH1
KCNJ2
KCNJ6
KCNQ1
KRAS
LAMB2
LIG4
LMNA
LRP4
SMAD3
MECP2
MID1
KMT2A
ALDH6A1
MTM1
TRNE
TRNN
TRNS1
MUSK
MYCN
MYH2
MYH3
MYH7
MYL1
MYL2
MYO9A
NEB
NEK1
NFIX
NOTCH2
NOTCH3
NRAS
DDR2
NUP88
ORC1
PAFAH1B1
PAH
PAK3
PAX1
PDE6D
ENPP1
PEX1
PEX6
PEX10
PEX12
PEX13
PEX14
PGM3
PIGA
PIGH
PIK3CA
PIK3R1
PLAGL1
PLOD1
PMM2
EXOSC9
PPP1CB
PPP2CA
MAP2K1
MAP2K2
PSEN1 24121961
PTEN
PTPN11
PTPN14
PURA
PEX19
PEX2
PEX5
RAD21 30125677
RAD51
RAD51C
RAF1
RAP1A
RAP1B
RAPSN
RASA2
RET
REV3L
RIT1
RPS6KA3
RPS19
RPS23
RRAS
RYR1
SC5D
SCN4A 19065518, 15596759
SCO1
SDHB
SDHC
SDHD
SET
SHOX
SIM1
SIX1
SKI
SLC18A3
SLC25A1
SMARCB1
SMS
SNAP25
SNRPB
SON
SOS1
SOS2
SRY
STAT3
VAMP1
TAF1
TAF6
MAP3K7
TBX1
TCF3
TCOF1
TFAP2A
TGFB3
TGFBR1
TGFBR2
TNNI2
TNNT3
TPM2
TPM3
TRIO
TRPS1
TTN
TWIST1
SLC35A2 30817854
USH2A
KDM6A
WNT5A
WNT7A
XRCC2
YWHAE
PCGF2
MOGS
PDHX
KMT2D
MKKS
LZTR1
USP9X
RBM10
KDM5C
SMC1A
NAA10
LAGE3
ARID1A
COLQ
CDC45
GNPAT
CUL4B
OFD1
PEX3
CNTNAP1
CASK
DCHS1
DNAH11
PEX11B
DPM2
AP1S2
HERC1
SEMA5A
SMC3
AP4M1
ARHGEF2
HACD1
CRLF1
TRIP12
TRIP4
PLAA
COG1
RECQL4
PEX16
ECEL1
EIF2AK3
CHST3
PIGL
TBX4
POLR1C
PUM1
IFT140
KMT2B
FRMPD4
TMEM94
EIF4A3
ZBTB24
KIAA0753
RUSC2
SEC24D
MED12
SLC12A6
GNE
MAMLD1
FARSB
HUWE1
PQBP1
ALG3
CD96
IRX5
ZMPSTE24
SPEG
APC2
KLHL41
TUBB3
MAD2L2
COG5
SEC23B
SEC23A
HYOU1
EBP
AP4B1
WDR4
CLP1
TLK2
AP4S1
ERLIN2
MRAS
FASTKD2
DHX30
RAB3GAP1
RAB18
CEP152
CNOT1
TAB2
POGZ
PLXND1
EXOC6B
DDHD2
AGTPBP1
SATB2
SMCHD1
OBSL1
SPECC1L
SIK3
GRIP1
AP4E1
TGDS
KAT6B
CLCF1
ATP6V0A2
PIGN
RAB3GAP2
NIPBL
SIN3A
SETBP1
TCTN3
FBXL3
SLC17A5
PGAP2
SETD2
UBE2T
ANKRD11
BLNK
GMPPB
DSE
LRP12
PSAT1
EFEMP2
RRM2B
GEMIN4
NSDHL
YARS2
POLR1D
ZDHHC9
IER3IP1
TACO1
TMEM216
KCNK9
ACTL6B 31134736
PIGT
OTUD6B
RAB23
MAP3K20
ADAM22
RIN2
PRMT7
TMCO1
PUS7
MAGEL2
NSUN2
PHIP
FANCL
MSTO1
RFWD3
SETD5
FANCI
ASXL2
OSGEP
PIGV
PEX26
TRMU
IFT122
LMBRD1
HDAC8
ZC4H2
KLHL7
LMOD3
LRRC8A
FAM20C
CCDC47
HYMAI
NUP107
THOC2
SELENON
SNX14
GATAD2B
TBC1D24
ARID1B 26350204, 22426309
WDR35
FANCM
EPG5
SPTBN4
MPP4
SLC5A7
PIEZO2
SMOC1
NSD1
UPF3B
CPLANE1
CCDC28B
EFL1
FAT4
PALB2
PYROXD1
FRAS1
PUS1
ASXL3
SLC2A10
BRIP1
SLC10A7
KIAA1109
UTP23 30125677
COA8
SLX4
MEGF10
MYPN
MYO18B
PIGO
ATAD1
ZNF341
WDR73
COX14
PIGY
SHANK3
ALG2
SCARF2
SLC39A13
NEK9
G6PC3
PGAP3
TBCK
CHST14
TOE1
COX20
SP7
EARS2
B3GALT6
SYT2
TBC1D20
A2ML1
GSC
KCTD7
ESCO2
SPRED1
LGI4
SPATA5
ARX
ASXL1
ALG14
IBA57
FLCN
TUBB
AK9
BRAT1
RNASEH1
STAC3
NALCN
CHAMP1
KANSL1
PIGW
UNC80
DOK7
SH3PXD2B
FAM149B1
FREM2
CTU2
KIF7
AGRN
MYMK
KBTBD13
PET100
KLLN
OCLN