Atrophin 1 - CISMeF

Preferred Label : Atrophin 1;

Symbol : ATN1;

CISMeF acronym : ATN1;

Type : Gene;

Alternative titles and symbols : Drpla gene; DRPLA;

Ensembl ID : ENSG00000111676;

Prefixed ID : *607462;

Details

Origin ID

607462;

UMLS CUI

C1540211;

Automatic exact mappings (from CISMeF team)
- ATN1 gene [LOINC component]
- Dentatorubral pallidoluysian atrophy [ORDO Disease]
- Dentatorubral-Pallidoluysian Atrophy [NCIt concept]
- Dentatorubropallidoluysian atrophy [PASCAL descriptor]
- atrophin 1 [ORDO Gene]
- atrophin 1 [HGNC gene]
- dentatorubral-pallidoluysian atrophy [DO Concept]
HGNC gene
- atrophin 1 [HGNC gene]
NCIt concept(s)
- ATN1 Gene [NCIt concept]
- ATN1 wt Allele [NCIt concept]
- Atrophin-1 [NCIt concept]
ORDO concept(s)
- atrophin 1 [ORDO Gene]
Phenotypes related
- Congenital hypotonia, epilepsy, developmental delay, and digital anomalies [OMIM Phenotype]
- Dentatorubral-pallidoluysian atrophy [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- ATN1 Gene [NCIt concept]
- ATN1 gene [LOINC component]
- atrophin 1 [HGNC gene]

Keyword's position in hierarchy(ies) :

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