PMS1 Gene - CISMeF

Preferred Label : PMS1 Gene;

NCIt synonyms : PMS1 Homolog 1, Mismatch Repair System Component Gene;

NCIt related terms : MLH2; PMS1;

CISMeF acronym : PMS1;

NCIt definition : This gene is involved in mismatch repair and mutations in the gene result in hereditary non-polyposis colon cancer 3.;

Détails

Origin ID

C18590;

UMLS CUI

C0879390;

Automatic exact mappings (from CISMeF team)
- PMS-1 [MeSH concept]
- PMS-1 [MeSH Supplementary Concept]
- PMS1 homolog 1, mismatch repair system component [ORDO Gene]
- Pms1 homolog 1, mismatch repair system component [OMIM gene]
HGNC gene
- PMS1 homolog 1, mismatch repair system component [HGNC gene]
OMIM relation
- Pms1 homolog 1, mismatch repair system component [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- PMS1 homolog 1, mismatch repair system component [HGNC gene]
- Pms1 homolog 1, mismatch repair system component [OMIM gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
gene_encodes_gene_product
- PMS1 Protein Homolog 1 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- Inactivating PMS1 Gene Mutation [NCIt concept]
- PMS1 Gene Mutation [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Lynch Syndrome [NCIt concept]
gene_mapped_to_disease
- Lynch 1 Syndrome [NCIt concept]
- Lynch 2 Syndrome [NCIt concept]
- Lynch Syndrome [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- DNA Repair [NCIt concept]
- Mismatch Repair [NCIt concept]
genetic_biomarker_related_to
- PMS1 Homolog 1 Measurement [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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