FAN1 wt Allele

Preferred Label : FAN1 wt Allele;

NCIt synonyms : Myotubularin Related Protein 15 Gene; MTMR15; FANCD2/FANCI-Associated Nuclease 1 wt Allele; DKFZp686K16147; KIAA1018; DKFZp451H236; RP11-540B6.6; KMIN;

NCIt definition : Human FAN1 wild-type allele is located within 15q13.2-q13.3 and is approximately 39 kb in length. This allele, which encodes Fanconi-associated nuclease 1 protein, plays a role in the modulation of DNA repair. Mutation of the gene is associated with karyomegalic interstitial nephritis.;

GenBank Accession Number : NM_014967;

Details

Origin ID

C92479;

UMLS CUI

C2985128;

Automatic exact mappings (from CISMeF team)
- FANCD2 and FANCI associated nuclease 1 [ORDO Gene]
- Fancd2/fanci-associated nuclease 1 [OMIM gene]
- Interstitial nephritis, karyomegalic [OMIM Phenotype]
OMIM relation
- Fancd2/fanci-associated nuclease 1 [OMIM gene]
See also inter- (CISMeF)
- karyomegalic interstitial nephritis [DO Concept]
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_plays_role_in_process
- DNA Binding [NCIt concept]
- DNA Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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