Inactivating MLH1 Gene Mutation

Preferred Label : Inactivating MLH1 Gene Mutation;

NCIt synonyms : hMLH1 Mismatch Repair Gene Inactivation; Loss of Function MutL Homolog 1 Gene Mutation; MLH1 Loss of Function Gene Mutation; Loss of Function MLH1 Mutation; MLH1 Loss of Function Mutation; MLH1 Gene Inactivation; Loss of Function MutL, E. coli, Homolog of, 1 Gene Mutation; Inactivating MLH1 Mutation; Loss of Function HNPCC2 Gene Mutation; Loss of Function COCA2 Gene Mutation; Loss of Function MLH1 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the MLH1 gene that either inhibits expression or results in the translation of an inactive DNA mismatch repair protein Mlh1 protein.;

Details

Origin ID

C36698;

UMLS CUI

C1515642;

Molecular abnormality of diseases
- Pancreatic Medullary Carcinoma [NCIt concept]
- Turcot Syndrome Type 1 [NCIt concept]
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]
is_abnormality_of_gene
- MLH1 Gene [NCIt concept]
- MLH1 wt Allele [NCIt concept]
is_molecular_abnormality_of_disease
- Lynch 2 Syndrome [NCIt concept]
molecular_abnormality_involves_gene
- DNA Repair Gene [NCIt concept]
- MLH1 Gene [NCIt concept]

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