MLH1 Gene - CISMeF

Preferred Label : MLH1 Gene;

NCIt synonyms : MLH1; MutL Homolog 1 Gene;

CISMeF acronym : MLH1;

NCIt definition : This gene plays a role in DNA mismatch repair.;

Details

Origin ID

C18482;

UMLS CUI

C0879389;

Automatic exact mappings (from CISMeF team)
- Dna mismatch repair protein mlh1 [OMIM gene]
- MLH1 gene [LOINC component]
- mutL homolog 1 [ORDO Gene]
HGNC gene
- mutL homolog 1 [HGNC gene]
OMIM relation
- Dna mismatch repair protein mlh1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Dna mismatch repair protein mlh1 [OMIM gene]
- MLH1 gene [LOINC component]
- mutL homolog 1 [HGNC gene]
concept_is_in_subset
- CCPS Genetics Terminology [NCIt concept]
- CTDC Value 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
- DNA Mismatch Repair Protein Mlh1 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- Inactivating MLH1 Gene Mutation [NCIt concept]
gene_involved_in_molecular_abnormality
- Deleterious MLH1 Gene Mutation [NCIt concept]
- Inactivating MLH1 Gene Mutation [NCIt concept]
- Loss of MLH1 Expression [NCIt concept]
- MLH1 Gene Mutation [NCIt concept]
- MLH1 Protein Variant [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Lynch 2 Syndrome [NCIt concept]
- Turcot Syndrome Type 1 [NCIt concept]
gene_mapped_to_disease
- Lynch 2 Syndrome [NCIt concept]
- Turcot Syndrome Type 1 [NCIt concept]
gene_plays_role_in_process
- DNA Repair [NCIt concept]
- Mismatch Repair [NCIt concept]
genetic_biomarker_related_to
- Constitutional Mismatch Repair Deficiency Syndrome [NCIt concept]
- Lynch 1 Syndrome [NCIt concept]
- Lynch 2 Syndrome [NCIt concept]
- Lynch Syndrome [NCIt concept]
- MLH1 Gene Promoter Hypermethylation [NCIt concept]
- MLH1 Gene Promoter Hypermethylation Negative [NCIt concept]
- MLH1 Gene Promoter Hypermethylation Status [NCIt concept]
- MLH1 Loss of Nuclear Expression [NCIt concept]
- MLH1 Negative [NCIt concept]
- MLH1 Nuclear Expression Intact [NCIt concept]
- MutL Homolog 1 Measurement [NCIt concept]

Keyword's position in hierarchy(ies) :

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