Twinkle mtdna helicase

Preferred Label : Twinkle mtdna helicase;

Symbol : TWNK;

CISMeF acronym : TWNK;

Type : Gene;

Alternative titles and symbols : Chromosome 10 open reading frame 2; T7 gene 4-like protein with intramitochondrial nucleoid localization; C10ORF2; TWINKLE; p72;

Included titles and symbols : Twinky;

Ensembl ID : ENSG00000107815;

Prefixed ID : *606075;

Détails

Origin ID

606075;

UMLS CUI

C1418458;

Automatic exact mappings (from CISMeF team)
- twinkle mtDNA helicase [ORDO Gene]
- twinkle mtDNA helicase [HGNC gene]
HGNC gene
- twinkle mtDNA helicase [HGNC gene]
NCIt concept(s)
- TWNK Gene [NCIt concept]
- TWNK wt Allele [NCIt concept]
- Twinkle mtDNA Helicase [NCIt concept]
ORDO concept(s)
- twinkle mtDNA helicase [ORDO Gene]
Phenotypes related
- Mitochondrial dna depletion syndrome 7 (hepatocerebral type) [OMIM Phenotype]
- Perrault syndrome 5 [OMIM Phenotype]
- Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- C10orf2 gene [LOINC component]
- twinkle mtDNA helicase [HGNC gene]

Position du mot-clé dans l'(les) arborescence(s) :

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