Congenital epicanthus

Disease Term Disease ID Gene Symbol References
Congenital Epicanthus C0678230 ACOX1
ACTB
ACTG1
ALDOA
ALX3
ANK1
ARVCF
RERE
ATP1A3
ATRX
KIF1A
BMP2
BRCA1
BRAF
BRCA2
BUB1
BUB1B
CAMK2A
CBL
CD79A
CD79B
CHD3
CHD4
CHRNA1
CHRNA7
CHRND
CHRNG
TPP1
COL1A1
COL1A2
COL3A1
COL5A1
COL5A2
COL11A1
COMT
CREBBP
CSNK2A1
CTBP1
CTNND2
DDX11
DHCR7
DHCR24
DLX4
DYNC1H1
DNMT3B
DOCK3
DPH1
ATN1
SLC26A2
DVL1
DVL3
EEF1A2
MEGF8
ELN
EP300
ERCC2
ERCC3
ERCC4
EXT2
EZH2
FANCA
FANCC
FANCD2
FANCE
BPTF
FANCB
FANCF
FANCG
GPC4
FGD1
FGFR1
FGFR3
FGFR2
FOXG1
FLI1
FLNA
FLNC
FLT4
AFF2
FZD2
GABRD
GATA1
GATA4
GJA1
GPC3
GP1BB
GRIN2B
GTF2E2
GTF2I
HBA1
HBA2
HELLS
HIC1
HNRNPH2
HNRNPU
HOXB1
HRAS
HSD17B4
IGHM
IGLL1
KCNH1
KCNJ8
KCNMA1
KCNQ1
KIF11
KRAS
LETM1
LIG4
LIMK1
MAN2B1
MECP2
KMT2A
ALDH6A1
MYCN
MYH3
NF1
NONO
NOTCH2
NOTCH3
NRAS
ROR2
PAFAH1B1
PAH
PBX1
PDE4D
PDE6D
PEX1
PEX6
PEX10
PEX12
PEX13
PEX14
PIK3C2A
PIK3CA
PIK3R1
PLOD1
PMM2
EXOSC9
PPP1CB
PPP2CA
PRKAR1A
MAP2K1
MAP2K2
PTCH1
PTPN11
PEX19
PEX2
PEX5
QARS1
RAD51
RAD51C
RAF1
RB1
DPF2
RET
REV3L
RFC2
RIT1
RMRP
RPL10
RPS6KA3
RPS23
RPS28
RREB1
RYR1
SC5D
SCN4A
SIM1
SKI
SLC3A1
SMARCA4
SMARCB1
SMARCC2
SMARCE1
SNRPB
SON
SOS1
SOX4
SOX5
SOX11
SRY
SYT1
TAF1
TBX1
TBX2
TCF4
TCF3
TCF20
TFAP2A
TRIO
HIRA
TWIST1
UBE3A
UFD1
VEGFC
CLIP2
WHCR
NSD2
NELFA
WNT5A
WNT7A
XRCC2
XRCC4
YWHAE
ZNF148
RNF113A
KAT6A
SHOC2
PDHX
ALX1
SMC1A
NAA10
ARID1A
TRRAP
CUL4B
OFD1
PEX3
CNTNAP1
KCNAB2
ITGA8
CDK10
CASK
CDK13 28807008
DCHS1
PTCH2
EED
PEX11B
BAZ1B
SEMA5A
FIBP
BUB3
TRIP13
TRIP12
ZNHIT3
EFTUD2
LONP1
RECQL4
PEX16
EIF2AK3
PIGL
TBX4
ADAMTS3
ADAMTS2
GTF2IRD1
PREPL
SEC24C
CEP57
SEMA3E
KIAA0586
ZBTB24
KIAA0753
MED12
GNE
ABCC9 26938784
HUWE1
GPC6
PQBP1
CERT1
ALG3
CD96
TUBB3
MAD2L2
ZBTB18
MAB21L2
EBP
STAG2
WDR4
SEPTIN9
CPLX1
PNPLA6
MAPRE2
TLK2
MAN1B1
B4GALT7
PUF60
DHX30
CNOT1
ZNF292
SPART
PLXND1
KDM6B
RHOBTB2
SPECC1L
KAT6B
ATP6V0A2
PIGN
AMACR
RAB3GAP2
SIN3A
AUTS2
TCTN3
FBXL4
HIBCH
FGF20
SLC17A5
TBL2
PGAP2
UBE2T
ANKRD11
BLNK
SLC25A24
NSDHL
TBX22
TPRKB
MLXIPL
IFT52
TMEM216
PHF21A
WAC
NBAS
DYNC2LI1
SUFU
RAB23
BCL11A
FGFRL1
NANS
SOX18
PRMT7
TMCO1
PUS7
AHI1
NSUN2
PHIP
DYNC2I1
FANCL
RFWD3
FANCI
ASXL2
CHD7
OSGEP
PIGV
PEX26
CCDC88A
IFT122
LMBRD1
LRRC8A
INPP5E
GJC2
SALL4
SNX14
GATAD2B
TBC1D24
SHROOM4
ARID1B 22426309, 26350204
KIDINS220
COG6
HECW2
WDR35
IFT80
FANCM
WDR19
ALX4
PIEZO2
PRDM16
XYLT1
NXN
BCL11B
TMEM237
VPS33A
UPF3B 22609145, 19238151, 17704778
CPLANE1
GNPTAB
THOC6
FAT4
DYNC2H1
PALB2
CSPP1
GREB1L
B9D2
COL18A1
MED25
TRAPPC9
CDCA7
BRIP1
TRAF7
UQCC2
COG8
SLX4
ZNF469
PIGO
WDR73
PIGY
SHANK3
DYNC2I2
UBE3B
RSPRY1
PGAP3
IFT43
ADAT3
TOE1
TWIST2
DIS3L2
DNAJC21
MPLKIP
AMER1
CCBE1
SPRED1
BMPER
GLIS3
ARID2
TUBB
JMJD1C
BRAT1
EBF3
CHAMP1
KANSL1
PIGW
UNC80
FAM149B1
KIF7
MYMK
GTF2H5
KCNMA1-AS1