MLH1 Gene Mutation

Preferred Label : MLH1 Gene Mutation;

NCIt synonyms : MutL, E. coli, Homolog of, 1 Gene Mutation; HNPCC2 Gene Mutation; COCA2 Gene Mutation; MutL Homolog 1 Gene Mutation;

NCIt related terms : MLH1 Mutation;

NCIt definition : A change in the nucleotide sequence of the MLH1 gene.;

Details

Origin ID

C118394;

UMLS CUI

C3898547;

Automatic exact mappings (from CISMeF team)
- MLH1 mutation [MedDRA LLT]
Molecular abnormality of diseases
- Constitutional Mismatch Repair Deficiency Syndrome [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- MLH1 mutation [MedDRA LLT]
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]
- MLH1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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