MUTYH Gene - CISMeF

Preferred Label : MUTYH Gene;

NCIt synonyms : MutY DNA Glycosylase Gene;

NCIt related terms : MUTYH;

CISMeF acronym : MUTYH;

NCIt definition : This gene plays a role in the repair of oxidative DNA damage.;

Details

Origin ID

C61056;

UMLS CUI

C1417505;

Automatic exact mappings (from CISMeF team)
- MUTYH gene [LOINC component]
- Muty dna glycosylase [OMIM gene]
- mutY DNA glycosylase [ORDO Gene]
HGNC gene
- mutY DNA glycosylase [HGNC gene]
OMIM relation
- Muty dna glycosylase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- MUTYH gene [LOINC component]
- Muty dna glycosylase [OMIM gene]
- mutY DNA glycosylase [HGNC gene]
concept_is_in_subset
- CCPS Genetics Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
gene_encodes_gene_product
- Adenine DNA Glycosylase [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- Biallelic MUTYH Gene Mutation [NCIt concept]
- Deleterious Biallelic MUTYH Gene Mutation [NCIt concept]
- Deleterious MUTYH Gene Mutation [NCIt concept]
- MUTYH Gene Mutation [NCIt concept]
- MUTYH NM_001293190.2:c.1014G>C [NCIt concept]
- MUTYH NP_001280119.1:p.Q338H [NCIt concept]
- MUTYH Protein Variant [NCIt concept]
- Monoallelic MUTYH Gene Mutation [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- MUTYH-Associated Polyposis [NCIt concept]
gene_mapped_to_disease
- MUTYH-Associated Polyposis [NCIt concept]
gene_plays_role_in_process
- Cell Maintenance [NCIt concept]
- DNA Repair [NCIt concept]
genetic_biomarker_related_to
- MUTYH-Associated Polyposis [NCIt concept]

Keyword's position in hierarchy(ies) :

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