Proline-rich transmembrane protein 2

Preferred Label : Proline-rich transmembrane protein 2;

Symbol : PRRT2;

CISMeF acronym : PRRT2;

Type : Gene;

Ensembl ID : ENSG00000167371;

Prefixed ID : *614386;

Détails

Origin ID

614386;

UMLS CUI

C1826724;

Automatic exact mappings (from CISMeF team)
- PRRT2 Gene [NCIt concept]
- PRRT2 protein, human [MeSH Supplementary Concept]
- Proline-Rich Transmembrane Protein 2 [NCIt concept]
- proline rich transmembrane protein 2 [ORDO Gene]
- proline rich transmembrane protein 2 [HGNC gene]
HGNC gene
- proline rich transmembrane protein 2 [HGNC gene]
NCIt concept(s)
- PRRT2 Gene [NCIt concept]
- PRRT2 wt Allele [NCIt concept]
- Proline-Rich Transmembrane Protein 2 [NCIt concept]
ORDO concept(s)
- proline rich transmembrane protein 2 [ORDO Gene]
Phenotypes related
- Convulsions, familial infantile, with paroxysmal choreoathetosis [OMIM Phenotype]
- Episodic kinesigenic dyskinesia 1 [OMIM Phenotype]
- Seizures, benign familial infantile, 2 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- PRRT2 Gene [NCIt concept]
- proline rich transmembrane protein 2 [HGNC gene]

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

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