ERCC2 Gene - CISMeF

Preferred Label : ERCC2 Gene;

NCIt synonyms : ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit Gene;

NCIt related terms : ERCC2;

CISMeF acronym : ERCC2;

NCIt definition : This gene is involved in nucleotide excision repair and corrects sensitivity to UV radiation and defective nucleotide excision repair in xeroderma pigmentosum cells of complementation group D.;

Details

Origin ID

C20555;

UMLS CUI

C1333356;

Automatic exact mappings (from CISMeF team)
- ERCC excision repair 2, TFIIH core complex helicase subunit [ORDO Gene]
- Ercc excision repair 2, tfiih core complex helicase subunit [OMIM gene]
HGNC gene
- ERCC excision repair 2, TFIIH core complex helicase subunit [HGNC gene]
OMIM relation
- Ercc excision repair 2, tfiih core complex helicase subunit [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- ERCC excision repair 2, TFIIH core complex helicase subunit [HGNC gene]
- Ercc excision repair 2, tfiih core complex helicase subunit [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]
- Trichothiodystrophy [NCIt concept]
- Xeroderma Pigmentosum, Complementation Group D [NCIt concept]
gene_encodes_gene_product
- General Transcription and DNA Repair Factor IIH Helicase Subunit XPD [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- ERCC2 Gene Mutation [NCIt concept]
- ERCC2 NP_000391.1:p.F332V [NCIt concept]
- ERCC2 Protein Variant [NCIt concept]
- Inactivating ERCC2 Gene Mutation [NCIt concept]
gene_mapped_to_disease
- Cerebrooculofacioskeletal Syndrome 1 [NCIt concept]
- Cerebrooculofacioskeletal Syndrome 4 [NCIt concept]
- Trichothiodystrophy 1, Photosensitive [NCIt concept]
- Xeroderma Pigmentosum, Complementation Group D [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Cell Cycle Regulation Process [NCIt concept]
- DNA Binding [NCIt concept]
- DNA Repair [NCIt concept]
- Hydrolysis [NCIt concept]
- Nucleotide Excision Repair [NCIt concept]
- Transcription [NCIt concept]
- Transcriptional Regulation [NCIt concept]
genetic_biomarker_related_to
- Xeroderma Pigmentosum [NCIt concept]
- Xeroderma Pigmentosum, Complementation Group D [NCIt concept]
- Xeroderma Pigmentosum-Cockayne Syndrome Complex [NCIt concept]

Keyword's position in hierarchy(ies) :

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