external ear malformation Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A malformation of the auricle of the ear. (Human Phenotype Ontology, HP_0008572)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0008572
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Genes

72 genes associated with the external ear malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ANK1 ankyrin 1, erythrocytic
BCOR BCL6 corepressor
BCR breakpoint cluster region
BLNK B-cell linker
BMP4 bone morphogenetic protein 4
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
CHD7 chromodomain helicase DNA binding protein 7
CHN1 chimerin 1
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
ERCC4 excision repair cross-complementation group 4
ERF Ets2 repressor factor
EYA1 EYA transcriptional coactivator and phosphatase 1
FAM58A family with sequence similarity 58, member A
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
FBN2 fibrillin 2
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
GATA4 GATA binding protein 4
GJA1 gap junction protein, alpha 1, 43kDa
IGHM immunoglobulin heavy constant mu
IGLL1 immunoglobulin lambda-like polypeptide 1
LMNA lamin A/C
LRRC8A leucine rich repeat containing 8 family, member A
MAPK1 mitogen-activated protein kinase 1
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
PALB2 partner and localizer of BRCA2
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)
PQBP1 polyglutamine binding protein 1
RAD51C RAD51 paralog C
SALL1 spalt-like transcription factor 1
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SIX1 SIX homeobox 1
SIX5 SIX homeobox 5
SIX6 SIX homeobox 6
SLX4 SLX4 structure-specific endonuclease subunit
SOX2 SRY (sex determining region Y)-box 2
TBCE tubulin folding cofactor E
TCF3 transcription factor 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TP63 tumor protein p63
TWIST1 twist family bHLH transcription factor 1
ZMPSTE24 zinc metallopeptidase STE24