MSH2 Gene - CISMeF

Preferred Label : MSH2 Gene;

NCIt synonyms : MutS Homolog 2 Gene;

NCIt related terms : MSH2;

CISMeF acronym : MSH2;

NCIt definition : This gene plays a role in DNA mismatch repair mutations in the gene result in hereditary nonpolyposis colorectal cancer-1.;

Details

Origin ID

C18481;

UMLS CUI

C0879290;

Automatic exact mappings (from CISMeF team)
- MSH2 gene [LOINC component]
- Muts homolog 2 [OMIM gene]
- mutS homolog 2 [ORDO Gene]
HGNC gene
- mutS homolog 2 [HGNC gene]
OMIM relation
- Muts homolog 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- MSH2 gene [LOINC component]
- Muts homolog 2 [OMIM gene]
- mutS homolog 2 [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 Msh2 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- Inactivating MSH2 Gene Mutation [NCIt concept]
gene_involved_in_molecular_abnormality
- Deleterious MSH2 Gene Mutation [NCIt concept]
- Inactivating MSH2 Gene Mutation [NCIt concept]
- Loss of MSH2 Expression [NCIt concept]
- MSH2 Gene Mutation [NCIt concept]
- MSH2 Gene Rearrangement [NCIt concept]
- MSH2 NM_000251.2:c.1906G>C [NCIt concept]
- MSH2 NP_000242.1:p.A636P [NCIt concept]
- MSH2 Protein Variant [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Lynch 1 Syndrome [NCIt concept]
- Turcot Syndrome Type 1 [NCIt concept]
gene_mapped_to_disease
- Lynch 1 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
- BAT26 [NCIt concept]
- Constitutional Mismatch Repair Deficiency Syndrome [NCIt concept]
- Lynch 1 Syndrome [NCIt concept]
- Lynch 2 Syndrome [NCIt concept]
- Lynch Syndrome [NCIt concept]
- MSH2 Loss of Nuclear Expression [NCIt concept]
- MSH2 Negative [NCIt concept]
- MSH2 Nuclear Expression Intact [NCIt concept]
- MutS Homolog 2 Measurement [NCIt concept]

Keyword's position in hierarchy(ies) :

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