EGF A61G Allele

Preferred Label : EGF A61G Allele;

NCIt synonyms : Epidermal Growth Factor (Beta-Urogastrone) A61G Allele; EGF g. 61 A-G Allele; Epidermal Growth Factor (Beta-Urogastrone) 61*G Allele; EGF A61G; EGF61*G; EGF 1 Allele;

NCIt definition : Human EGF A61G allele is located in the vicinity of 4q25 and is approximately 99 kb in length. The A61G allele is a polymorphism in the promoter region of the EGF gene where an adenosine residue is replaced by a guanosine at position 61 in the genomic DNA, which encodes pro-epidermal growth factor precursor protein. This allele may be associated with aberrant expression of the protein and decreased incidence of cirrhosis, hepatocellular carcinoma, malignant melanoma and gastric cancer.;

GenBank Accession Number : NM_001963;

SNP ID : rs4444903;

PubMed : 17940864; 17433039;

Details

Origin ID

C78136;

UMLS CUI

C2699841;

OMIM relation
- Epidermal growth factor [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
allele_has_abnormality
- Adenosine to Guanosine Transition Abnormality [NCIt concept]
- Transition Mutation [NCIt concept]
allele_in_chromosomal_location
- 4q25 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Angiogenic Process [NCIt concept]
- Cell Proliferation [NCIt concept]
- Cell Proliferation Regulatory Process [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Receptor Binding [NCIt concept]
- Receptor Signaling [NCIt concept]

Keyword's position in hierarchy(ies) :

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