Congenital Epicanthus Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0678230
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Genes

413 genes associated with the disease Congenital Epicanthus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACTB actin, beta
ACTG1 actin gamma 1
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif, 3
ADAT3 adenosine deaminase, tRNA-specific 3
ADNP activity-dependent neuroprotector homeobox
AFF2 AF4/FMR2 family, member 2
AHI1 Abelson helper integration site 1
ALDH6A1 aldehyde dehydrogenase 6 family, member A1
ALDOA aldolase A, fructose-bisphosphate
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALX1 ALX homeobox 1
ALX3 ALX homeobox 3
ALX4 ALX homeobox 4
AMACR alpha-methylacyl-CoA racemase
AMER1 APC membrane recruitment protein 1
ANK1 ankyrin 1, erythrocytic
ANKRD11 ankyrin repeat domain 11
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARID2 AT rich interactive domain 2 (ARID, RFX-like)
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ASXL2 additional sex combs like transcriptional regulator 2
ATN1 atrophin 1
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATRX alpha thalassemia/mental retardation syndrome X-linked
AUTS2 autism susceptibility candidate 2
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
B9D2 B9 protein domain 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)
BCL11B B-cell CLL/lymphoma 11B (zinc finger protein)
BLNK B-cell linker
BMP2 bone morphogenetic protein 2
BMPER BMP binding endothelial regulator
BPTF bromodomain PHD finger transcription factor
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRAT1 BRCA1-associated ATM activator 1
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
C5ORF42 chromosome 5 open reading frame 42
CAMK2A calcium/calmodulin-dependent protein kinase II alpha
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CCBE1 collagen and calcium binding EGF domains 1
CCDC88A coiled-coil domain containing 88A
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
CD96 CD96 molecule
CDCA7 cell division cycle associated 7
CDK10 cyclin-dependent kinase 10
CDK13 cyclin-dependent kinase 13
CEP57 centrosomal protein 57kDa
CERT1 ceramide transporter 1
CHAMP1 chromosome alignment maintaining phosphoprotein 1
CHD3 chromodomain helicase DNA binding protein 3
CHD4 chromodomain helicase DNA binding protein 4
CHD7 chromodomain helicase DNA binding protein 7
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CLIP2 CAP-GLY domain containing linker protein 2
CNOT1 CCR4-NOT transcription complex, subunit 1
CNTNAP1 contactin associated protein 1
COG6 component of oligomeric golgi complex 6
COG8 component of oligomeric golgi complex 8
COL11A1 collagen, type XI, alpha 1
COL18A1 collagen, type XVIII, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL3A1 collagen, type III, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COMT catechol-O-methyltransferase
CPLX1 complexin 1
CREBBP CREB binding protein
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CSPP1 centrosome and spindle pole associated protein 1
CTBP1 C-terminal binding protein 1
CTNND2 catenin (cadherin-associated protein), delta 2
CUL4B cullin 4B
DCHS1 dachsous cadherin-related 1
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DHX30 DEAH (Asp-Glu-Ala-His) box helicase 30
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DLX4 distal-less homeobox 4
DNAJC21 DnaJ (Hsp40) homolog, subfamily C, member 21
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOCK3 dedicator of cytokinesis 3
DPF2 D4, zinc and double PHD fingers family 2
DPH1 diphthamide biosynthesis 1
DVL1 dishevelled segment polarity protein 1
DVL3 dishevelled segment polarity protein 3
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
EBF3 early B-cell factor 3
EBP emopamil binding protein (sterol isomerase)
EED embryonic ectoderm development
EEF1A2 eukaryotic translation elongation factor 1 alpha 2
EFTUD2 elongation factor Tu GTP binding domain containing 2
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ELN elastin
EP300 E1A binding protein p300
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC4 excision repair cross-complementation group 4
EXOSC9 exosome component 9
EXT2 exostosin glycosyltransferase 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAM149B1 family with sequence similarity 149, member B1
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FAT4 FAT atypical cadherin 4
FBXL4 F-box and leucine-rich repeat protein 4
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF20 fibroblast growth factor 20
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FGFRL1 fibroblast growth factor receptor-like 1
FIBP fibroblast growth factor (acidic) intracellular binding protein
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FLNA filamin A, alpha
FLNC filamin C, gamma
FLT4 fms-related tyrosine kinase 4
FOXG1 forkhead box G1
FOXL2 forkhead box L2
FZD2 frizzled class receptor 2
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA4 GATA binding protein 4
GATAD2B GATA zinc finger domain containing 2B
GJA1 gap junction protein, alpha 1, 43kDa
GJC2 gap junction protein, gamma 2, 47kDa
GLIS3 GLIS family zinc finger 3
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
GPC6 glypican 6
GREB1L growth regulation by estrogen in breast cancer-like
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B
GTF2E2 general transcription factor IIE, polypeptide 2, beta 34kDa
GTF2H5 general transcription factor IIH, polypeptide 5
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
HELLS helicase, lymphoid-specific
HIBCH 3-hydroxyisobutyryl-CoA hydrolase
HIC1 hypermethylated in cancer 1
HIRA histone cell cycle regulator
HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 (H')
HNRNPU heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)
HOXB1 homeobox B1
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
IFT122 intraflagellar transport 122
IFT43 intraflagellar transport 43
IFT52 intraflagellar transport 52
IFT80 intraflagellar transport 80
IGLL1 immunoglobulin lambda-like polypeptide 1
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
ITGA8 integrin, alpha 8
JMJD1C jumonji domain containing 1C
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6A K(lysine) acetyltransferase 6A
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNH1 potassium channel, voltage gated eag related subfamily H, member 1
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KDM6B lysine (K)-specific demethylase 6B
KIAA0586 KIAA0586
KIAA0753 KIAA0753
KIDINS220 kinase D-interacting substrate, 220kDa
KIF11 kinesin family member 11
KIF1A kinesin family member 1A
KIF7 kinesin family member 7
KMT2A lysine (K)-specific methyltransferase 2A
KRAS Kirsten rat sarcoma viral oncogene homolog
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LMBRD1 LMBR1 domain containing 1
LONP1 lon peptidase 1, mitochondrial
LRRC8A leucine rich repeat containing 8 family, member A
MAB21L2 mab-21-like 2 (C. elegans)
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
MAN1B1 mannosidase, alpha, class 1B, member 1
MAN2B1 mannosidase, alpha, class 2B, member 1
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAPRE2 microtubule-associated protein, RP/EB family, member 2
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MED25 mediator complex subunit 25
MEGF8 multiple EGF-like-domains 8
MLXIPL MLX interacting protein-like
MPLKIP M-phase specific PLK1 interacting protein
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NANS N-acetylneuraminic acid synthase
NBAS neuroblastoma amplified sequence
NELFA negative elongation factor complex member A
NF1 neurofibromin 1
NONO non-POU domain containing, octamer-binding
NOTCH2 notch 2
NOTCH3 notch 3
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD2 nuclear receptor binding SET domain protein 2
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NXN nucleoredoxin
OFD1 oral-facial-digital syndrome 1
OSGEP O-sialoglycoprotein endopeptidase
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAH phenylalanine hydroxylase
PALB2 partner and localizer of BRCA2
PBX1 pre-B-cell leukemia homeobox 1
PDE4D phosphodiesterase 4D, cAMP-specific
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PDHX pyruvate dehydrogenase complex, component X
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PGAP2 post-GPI attachment to proteins 2
PGAP3 post-GPI attachment to proteins 3
PHF21A PHD finger protein 21A
PHIP pleckstrin homology domain interacting protein
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PIGW phosphatidylinositol glycan anchor biosynthesis, class W
PIGY phosphatidylinositol glycan anchor biosynthesis, class Y
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLXND1 plexin D1
PMM2 phosphomannomutase 2
PNPLA6 patatin-like phospholipase domain containing 6
PPP1CB protein phosphatase 1, catalytic subunit, beta isozyme
PPP2CA protein phosphatase 2, catalytic subunit, alpha isozyme
PQBP1 polyglutamine binding protein 1
PRDM16 PR domain containing 16
PREPL prolyl endopeptidase-like
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRMT7 protein arginine methyltransferase 7
PTCH1 patched 1
PTCH2 patched 2
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PUF60 poly-U binding splicing factor 60KDa
PUS7 pseudouridylate synthase 7 (putative)
QARS1 glutaminyl-tRNA synthetase 1
RAB23 RAB23, member RAS oncogene family
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD51 RAD51 recombinase
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RB1 retinoblastoma 1
RECQL4 RecQ protein-like 4
RERE arginine-glutamic acid dipeptide (RE) repeats
RET ret proto-oncogene
REV3L REV3-like, polymerase (DNA directed), zeta, catalytic subunit
RFC2 replication factor C (activator 1) 2, 40kDa
RFWD3 ring finger and WD repeat domain 3
RHOBTB2 Rho-related BTB domain containing 2
RIT1 Ras-like without CAAX 1
RNF113A ring finger protein 113A
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL10 ribosomal protein L10
RPS23 ribosomal protein S23
RPS28 ribosomal protein S28
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RREB1 ras responsive element binding protein 1
RSPRY1 ring finger and SPRY domain containing 1
RYR1 ryanodine receptor 1 (skeletal)
SALL4 spalt-like transcription factor 4
SC5D sterol-C5-desaturase
SCN4A sodium channel, voltage gated, type IV alpha subunit
SEC24C SEC24 family member C
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
SEPT9 septin 9
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SHROOM4 shroom family member 4
SIM1 single-minded family bHLH transcription factor 1
SIN3A SIN3 transcription regulator family member A
SKI SKI proto-oncogene
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC25A24 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLX4 SLX4 structure-specific endonuclease subunit
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SMC1A structural maintenance of chromosomes 1A
SNRPB small nuclear ribonucleoprotein polypeptides B and B1
SNX14 sorting nexin 14
SON SON DNA binding protein
SOS1 son of sevenless homolog 1 (Drosophila)
SOX11 SRY (sex determining region Y)-box 11
SOX18 SRY (sex determining region Y)-box 18
SOX4 SRY (sex determining region Y)-box 4
SOX5 SRY (sex determining region Y)-box 5
SPART spartin
SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like
SPRED1 sprouty-related, EVH1 domain containing 1
SRY sex determining region Y
STAG2 stromal antigen 2
SUFU suppressor of fused homolog (Drosophila)
SYT1 synaptotagmin I
TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
TBC1D24 TBC1 domain family, member 24
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX2 T-box 2
TBX22 T-box 22
TBX4 T-box 4
TCF20 transcription factor 20 (AR1)
TCF3 transcription factor 3
TCF4 transcription factor 4
TCTN3 tectonic family member 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
THOC6 THO complex 6
TLK2 tousled-like kinase 2
TMCO1 transmembrane and coiled-coil domains 1
TMEM216 transmembrane protein 216
TMEM237 transmembrane protein 237
TMEM8C transmembrane protein 8C
TOE1 target of EGR1, member 1 (nuclear)
TPP1 tripeptidyl peptidase I
TPRKB TP53RK binding protein
TRAF7 TNF receptor-associated factor 7, E3 ubiquitin protein ligase
TRAPPC9 trafficking protein particle complex 9
TRIO trio Rho guanine nucleotide exchange factor
TRIP12 thyroid hormone receptor interactor 12
TRIP13 thyroid hormone receptor interactor 13
TRRAP transformation/transcription domain-associated protein
TUBB tubulin, beta class I
TUBB3 tubulin, beta 3 class III
TWIST1 twist family bHLH transcription factor 1
TWIST2 twist family bHLH transcription factor 2
UBE2T ubiquitin-conjugating enzyme E2T
UBE3A ubiquitin protein ligase E3A
UBE3B ubiquitin protein ligase E3B
UFD1 ubiquitin recognition factor in ER associated degradation 1
UNC80 unc-80 homolog (C. elegans)
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2
VEGFC vascular endothelial growth factor C
VPS33A vacuolar protein sorting 33 homolog A (S. cerevisiae)
WAC WW domain containing adaptor with coiled-coil
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR4 WD repeat domain 4
WDR60 WD repeat domain 60
WDR73 WD repeat domain 73
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4
XYLT1 xylosyltransferase I
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZBTB18 zinc finger and BTB domain containing 18
ZBTB24 zinc finger and BTB domain containing 24
ZIC4 Zic family member 4
ZNF148 zinc finger protein 148
ZNF292 zinc finger protein 292
ZNF469 zinc finger protein 469
ZNHIT3 zinc finger, HIT-type containing 3