EPS8 wt Allele

Preferred Label : EPS8 wt Allele;

NCIt synonyms : Epidermal Growth Factor Receptor Pathway Substrate 8 wt Allele; DFNB102;

NCIt definition : Human EPS8 wild-type allele is located in the vicinity of 12q13 and is approximately 169 kb in length. This allele, which encodes epidermal growth factor receptor kinase substrate 8 protein, is involved in the mediation of the epidermal growth factor receptor signaling pathway.;

GenBank Accession Number : NM_004447;

Details

Origin ID

C52518;

UMLS CUI

C1707862;

Automatic exact mappings (from CISMeF team)
- autosomal recessive nonsyndromic deafness 102 [DO Concept]
- chloride intracellular channel 5 [ORDO Gene]
OMIM relation
- Epidermal growth factor receptor pathway substrate 8 [OMIM gene]
See also inter- (CISMeF)
- Deafness, autosomal recessive 102 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 12: 15833589-15664365 [NCIt concept]
gene_in_chromosomal_location
- 12q23-q24 [NCIt concept]
gene_is_element_in_pathway
- Epidermal Growth Factor Receptor Downstream Signaling Pathway [NCIt concept]
- PDGFR-beta Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Proliferation [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]

Keyword's position in hierarchy(ies) :

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