ERCC5 Gene - CISMeF

Preferred Label : ERCC5 Gene;

NCIt synonyms : ERCC Excision Repair 5, Endonuclease Gene; ERCC5;

CISMeF acronym : ERCC5;

NCIt definition : This gene plays a role in the nucleotide base excision repair of UV-induced DNA damage and mutations of the gene cause Cockayne syndrome.;

Details

Origin ID

C20557;

UMLS CUI

C1333359;

Automatic exact mappings (from CISMeF team)
- ERCC excision repair 5, endonuclease [ORDO Gene]
- Ercc excision repair 5, endonuclease [OMIM gene]
HGNC gene
- ERCC excision repair 5, endonuclease [HGNC gene]
OMIM relation
- Ercc excision repair 5, endonuclease [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- ERCC excision repair 5, endonuclease [HGNC gene]
- Ercc excision repair 5, endonuclease [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_associated_with_disease
- Cerebrooculofacioskeletal Syndrome [NCIt concept]
- Cockayne Syndrome [NCIt concept]
- Xeroderma Pigmentosum, Complementation Group G [NCIt concept]
gene_encodes_gene_product
- DNA Repair Protein Complementing XP-G Cells [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- ERCC5 Gene Mutation [NCIt concept]
- Inactivating ERCC5 Gene Mutation [NCIt concept]
gene_mapped_to_disease
- Cerebrooculofacioskeletal Syndrome 1 [NCIt concept]
- Cerebrooculofacioskeletal Syndrome 4 [NCIt concept]
- Xeroderma Pigmentosum, Complementation Group G [NCIt concept]
gene_plays_role_in_process
- DNA Repair [NCIt concept]
- Nucleotide Excision Repair [NCIt concept]
genetic_biomarker_related_to
- Xeroderma Pigmentosum [NCIt concept]
- Xeroderma Pigmentosum, Complementation Group G [NCIt concept]
- Xeroderma Pigmentosum-Cockayne Syndrome Complex [NCIt concept]

Keyword's position in hierarchy(ies) :

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