FANCE wt Allele

Preferred Label : FANCE wt Allele;

NCIt synonyms : FACE; FAE; FA Complementation Group E wt Allele; Fanconi Anemia, Complementation Group E Gene; Fanconi Anemia Complementation Group E Gene;

NCIt definition : Human FANCE wild-type allele is located within 6p22-p21 and is approximately 15 kb in length. This allele, which encodes Fanconi anemia group E protein, is involved in the mediation of both protein localization and DNA repair. Mutation of the gene is associated with Fanconi anemia.;

GenBank Accession Number : AF265210;

Details

Origin ID

C86552;

UMLS CUI

C2828055;

Automatic exact mappings (from CISMeF team)
- Childhood granulomatous periorificial dermatitis [ICD-11 More detail]
- Elongation of very long chain fatty acids-like 6 [OMIM gene]
- Entire face (body structure) [SNOMED CT concept]
- FA complementation group E [ORDO Gene]
- Face [ICD-11 Extension code]
- Face [ICHI extension code]
- Face [LOINC part]
- Face [LOINC System]
- Face [FMA entity]
- Face [ICNP localization]
- Face [LOINC System]
- Face all [LOINC component]
- Face looks old (finding) [SNOMED CT concept]
- Face structure (body structure) [SNOMED CT concept]
- Fanconi anemia complementation group E [DO Concept]
- Fanconi anemia, complementation group e [OMIM Phenotype]
- face [UBERON concept]
- face [MeSH Descriptor]
- face [MeSH concept]
- face [Radlex concept]
- face, nos [SNOMED Notion]
- fatty acid 2-chloroethyl ester synthase [MeSH Supplementary Concept]
OMIM relation
- Fance gene [OMIM gene]
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_involved_in_pathogenesis_of_disease
- Fanconi Anemia, Complementation Group E [NCIt concept]
gene_is_element_in_pathway
- BARD1 Pathway [NCIt concept]
- BARD1 Signaling Pathway [NCIt concept]
- Cancer Susceptibility Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Regulation Process [NCIt concept]
- DNA Maintenance [NCIt concept]
- DNA Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

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