MSH2 wt Allele

Preferred Label : MSH2 wt Allele;

NCIt synonyms : COCA1; FCC1; HNPCC; HNPCC1; MutS Homolog 2, Colon Cancer, Nonpolyposis Type 1 (E. coli) Gene; MutS Homolog 2, Colon Cancer, Nonpolyposis Type 1 Gene; LCFS2; MutS Homolog 2 wt Allele; MutS, E. coli, Homolog of, 2 Gene; MutS (E. Coli) Homolog 2 (Colon Cancer, Nonpolyposis Type 1) Gene;

NCIt definition : Human MSH2 wild-type allele is located within 2p22-p21 and is approximately 80 kb in length. This allele, which encodes DNA mismatch repair protein Msh2, is involved in the repair of post-replication insertion-deletion looped DNA mismatches.;

GenBank Accession Number : U04045;

Details

Origin ID

C50993;

UMLS CUI

C1705266;

False automatic mappings
- Lynch syndrome [ORDO Disease]
OMIM relation
- Muts homolog 2 [OMIM gene]
See also inter- (CISMeF)
- Lynch syndrome 1 [OMIM Phenotype]
- colorectal neoplasms, hereditary nonpolyposis [MeSH Descriptor]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- Inactivating MSH2 Gene Mutation [NCIt concept]
gene_in_chromosomal_location
- 2p22-p21 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Lynch 1 Syndrome [NCIt concept]
- Turcot Syndrome Type 1 [NCIt concept]
gene_is_element_in_pathway
- Colorectal Cancer Pathway [NCIt concept]
- Mismatch Repair Pathway [NCIt concept]
- p53 Effector Pathway [NCIt concept]
gene_plays_role_in_process
- DNA Repair [NCIt concept]
- Mismatch Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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