TDP1 wt Allele

Preferred Label : TDP1 wt Allele;

NCIt synonyms : FLJ11090; SCAN1; Tyrosyl-DNA Phosphodiesterase 1 wt Allele;

NCIt definition : Human TDP1 wild-type allele is located in the vicinity of 14q32.11 and is approximately 90 kb in length. This allele, which encodes tyrosyl-DNA phosphodiesterase 1 protein, is involved in DNA repair. Mutation of the gene is associated with spinocerebellar ataxia autosomal recessive with axonal neuropathy.;

GenBank Accession Number : AF182002;

Details

Origin ID

C105095;

UMLS CUI

C3540547;

Automatic exact mappings (from CISMeF team)
- Calcium-activated nucleotidase 1 [OMIM gene]
- Spinocerebellar ataxia with axonal neuropathy type 1 [ORDO Disease]
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [OMIM Phenotype]
- calcium activated nucleotidase 1 [ORDO Gene]
- spinocerebellar ataxia type 1 with axonal neuropathy [DO Concept]
- tyrosyl-DNA phosphodiesterase 1 [ORDO Gene]
OMIM relation
- Tyrosyl-dna phosphodiesterase 1 [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_plays_role_in_process
- DNA Binding [NCIt concept]
- DNA Repair [NCIt concept]
- Double Strand Break Repair [NCIt concept]
- Hydrolysis [NCIt concept]
- Single Strand Break Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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