PMS2 Gene - CISMeF

Preferred Label : PMS2 Gene;

NCIt synonyms : PMS2 Postmeiotic Segregation Increased 2 (S. cerevisiae) Gene; PMS2;

CISMeF acronym : PMS2;

NCIt definition : This gene is involved in mismatch repair and mutations in the gene result in hereditary non-polyposis colon cancer 4.;

Details

Origin ID

C18591;

UMLS CUI

C0879391;

Automatic exact mappings (from CISMeF team)
- PMS1 homolog 2, mismatch repair system component [ORDO Gene]
- PMS2 gene [LOINC component]
- Pms1 homolog 2, mismatch repair system component [OMIM gene]
HGNC gene
- PMS1 homolog 2, mismatch repair system component [HGNC gene]
OMIM relation
- Pms1 homolog 2, mismatch repair system component [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- PMS1 homolog 2, mismatch repair system component [HGNC gene]
- PMS2 gene [LOINC component]
- Pms1 homolog 2, mismatch repair system component [OMIM gene]
concept_is_in_subset
- CCPS Genetics 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
- Mismatch Repair Endonuclease PMS2 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- Inactivating PMS2 Gene Mutation [NCIt concept]
gene_involved_in_molecular_abnormality
- Deleterious PMS2 Gene Mutation [NCIt concept]
- Inactivating PMS2 Gene Mutation [NCIt concept]
- Loss of PMS2 Expression [NCIt concept]
- PMS2 Gene Mutation [NCIt concept]
- PMS2 Protein Variant [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Lynch Syndrome [NCIt concept]
- Turcot Syndrome Type 1 [NCIt concept]
gene_mapped_to_disease
- Lynch 1 Syndrome [NCIt concept]
- Lynch 2 Syndrome [NCIt concept]
- Lynch Syndrome [NCIt concept]
- Turcot Syndrome Type 1 [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- 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]
- PMS1 Homolog 2 Measurement [NCIt concept]
- PMS2 Loss of Nuclear Expression [NCIt concept]
- PMS2 Negative [NCIt concept]
- PMS2 Nuclear Expression Intact [NCIt concept]

Keyword's position in hierarchy(ies) :

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