Abnormality Of The Outer Ear Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An abnormality of the external ear. (Human Phenotype Ontology, HP_0000356)
External Link https://www.disgenet.org/browser/0/1/0/C1846460
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Genes

94 genes associated with the disease Abnormality Of The Outer Ear in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif, 3
ANK1 ankyrin 1, erythrocytic
ASXL1 additional sex combs like transcriptional regulator 1
BCOR BCL6 corepressor
BLNK B-cell linker
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CCBE1 collagen and calcium binding EGF domains 1
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
CEP120 centrosomal protein 120kDa
CHD7 chromodomain helicase DNA binding protein 7
CHN1 chimerin 1
COL25A1 collagen, type XXV, alpha 1
CTH cystathionine gamma-lyase
DACT1 dishevelled-binding antagonist of beta-catenin 1
EDN1 endothelin 1
EFTUD2 elongation factor Tu GTP binding domain containing 2
ERCC4 excision repair cross-complementation group 4
ERCC8 excision repair cross-complementation group 8
ERF Ets2 repressor factor
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EYA1 EYA transcriptional coactivator and phosphatase 1
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
FGD1 FYVE, RhoGEF and PH domain containing 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GATA4 GATA binding protein 4
GJA1 gap junction protein, alpha 1, 43kDa
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
GRIP1 glutamate receptor interacting protein 1
IGLL1 immunoglobulin lambda-like polypeptide 1
KIF1A kinesin family member 1A
LRRC8A leucine rich repeat containing 8 family, member A
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAPRE2 microtubule-associated protein, RP/EB family, member 2
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
PALB2 partner and localizer of BRCA2
PCGF2 polycomb group ring finger 2
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
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLCB4 phospholipase C, beta 4
POGZ pogo transposable element with ZNF domain
POMT1 protein-O-mannosyltransferase 1
PRRX1 paired related homeobox 1
PSEN1 presenilin 1
PXDN peroxidasin
RAD51 RAD51 recombinase
RAD51C RAD51 paralog C
RAI1 retinoic acid induced 1
RFWD3 ring finger and WD repeat domain 3
RLIM ring finger protein, LIM domain interacting
SALL1 spalt-like transcription factor 1
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SIN3A SIN3 transcription regulator family member A
SIX1 SIX homeobox 1
SIX5 SIX homeobox 5
SLX4 SLX4 structure-specific endonuclease subunit
TBCE tubulin folding cofactor E
TCF3 transcription factor 3
TP63 tumor protein p63
TUBB tubulin, beta class I
TWIST1 twist family bHLH transcription factor 1
UBE2T ubiquitin-conjugating enzyme E2T
VSX1 visual system homeobox 1
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
ZNHIT3 zinc finger, HIT-type containing 3