Deleterious Biallelic MUTYH Gene Mutation

Preferred Label : Deleterious Biallelic MUTYH Gene Mutation;

NCIt synonyms : Biallelic Deleterious MUTYH Gene Mutation; Deleterious Biallelic MYH Gene Mutation; Deleterious Biallelic MutY Homolog Gene Mutation; Deleterious Biallelic MutY DNA Glycosylase Gene Mutation; Deleterious Biallelic MutY Homolog (E. coli) Gene Mutation; Deleterious Biallelic MutY (E. Coli) Homolog Gene Mutation; Deleterious Biallelic MUTYH Mutation;

NCIt definition : The presence of nucleotide sequence changes in both alleles of the MUTYH gene that are associated with increased risk of disease.;

NCI Metathesaurus CUI : CL1406482;

Details

Origin ID

C172349;

UMLS CUI

C5419596;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- DNA Repair Gene [NCIt concept]
- MUTYH Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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