Bscl2 gene - CISMeF

Preferred Label : Bscl2 gene;

Symbol : BSCL2;

CISMeF acronym : BSCL2;

Type : Gene;

Alternative titles and symbols : Gng3lg, mouse, homolog of; SEIPIN;

Ensembl ID : ENSG00000168000;

Prefixed ID : *606158;

Détails

Origin ID

606158;

UMLS CUI

C1423761;

Automatic exact mappings (from CISMeF team)
- BSCL2 lipid droplet biogenesis associated, seipin [ORDO Gene]
- BSCL2 lipid droplet biogenesis associated, seipin [HGNC gene]
HGNC gene
- BSCL2 lipid droplet biogenesis associated, seipin [HGNC gene]
NCIt concept(s)
- BSCL2 Gene [NCIt concept]
- BSCL2 wt Allele [NCIt concept]
- Seipin [NCIt concept]
ORDO concept(s)
- BSCL2 lipid droplet biogenesis associated, seipin [ORDO Gene]
Phenotypes related
- Encephalopathy, progressive, with or without lipodystrophy [OMIM Phenotype]
- Lipodystrophy, congenital generalized, type 2 [OMIM Phenotype]
- Neuronopathy, distal hereditary motor, autosomal dominant 13 [OMIM Phenotype]
- Spastic paraplegia 17, autosomal dominant [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- BSCL2 lipid droplet biogenesis associated, seipin [HGNC gene]

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