abnormality of the auditory canal Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the External acoustic tube (also known as the auditory canal). (Human Phenotype Ontology, HP_0000372)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000372
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Genes

46 genes associated with the abnormality of the auditory canal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AKT1 v-akt murine thymoma viral oncogene homolog 1
B3GALTL beta 1,3-galactosyltransferase-like
BMP4 bone morphogenetic protein 4
CDC6 cell division cycle 6
CDT1 chromatin licensing and DNA replication factor 1
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
COL7A1 collagen, type VII, alpha 1
DCHS1 dachsous cadherin-related 1
EDN1 endothelin 1
EFTUD2 elongation factor Tu GTP binding domain containing 2
ERF Ets2 repressor factor
EYA1 EYA transcriptional coactivator and phosphatase 1
FAT4 FAT atypical cadherin 4
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
GLI3 GLI family zinc finger 3
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
GRIP1 glutamate receptor interacting protein 1
GSC goosecoid homeobox
HDAC8 histone deacetylase 8
NIPBL Nipped-B homolog (Drosophila)
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
PAX1 paired box 1
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POMT1 protein-O-mannosyltransferase 1
PORCN porcupine homolog (Drosophila)
PTEN phosphatase and tensin homolog
RAD21 RAD21 homolog (S. pombe)
RPL26 ribosomal protein L26
SALL4 spalt-like transcription factor 4
SF3B4 splicing factor 3b, subunit 4, 49kDa
SIX1 SIX homeobox 1
SIX5 SIX homeobox 5
SIX6 SIX homeobox 6
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SOST sclerostin
TCOF1 Treacher Collins-Franceschetti syndrome 1
TP63 tumor protein p63
TSHZ1 teashirt zinc finger homeobox 1
TWIST1 twist family bHLH transcription factor 1