FANCA wt Allele

Preferred Label : FANCA wt Allele;

NCIt synonyms : FACA; MGC75158; FAH; FANCH; FAA; FA-H; FA1; FA; Fanconi Anemia, Complementation Group H Gene; Fanconi Anemia, Type 1 Gene; Fanconi Anemia Complementation Group A Gene; FA Complementation Group A wt Allele; Fanconi Anemia, Complementation Group A Gene;

NCIt definition : Human FANCA wild-type allele is located in the vicinity of 16q24.3 and is approximately 79 kb in length. This allele, which encodes Fanconi anemia group A protein, may play a role in the regulation of both DNA repair and the cell cycle. Mutation of the gene is associated with Fanconi anemia.;

GenBank Accession Number : Z83067;

Details

Origin ID

C85999;

UMLS CUI

C2828026;

False automatic mappings
- FAS [WHO-ART Included Term]
- Friedreich ataxia [OMIM Phenotype]
OMIM relation
- Fanca 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_in_chromosomal_location
- 16q24.3 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Fanconi Anemia, Complementation Group A [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) :

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