Delta(4)-desaturase, sphingolipid, 1

Preferred Label : Delta(4)-desaturase, sphingolipid, 1;

Symbol : DEGS1;

CISMeF acronym : DEGS1;

Type : Gene;

Alternative titles and symbols : Dihydroceramide desaturase 1; Membrane lipid desaturase; DES1; MLD; Fatty acid desaturase 7; FADS7;

Ensembl ID : ENSG00000143753;

Prefixed ID : *615843;

Détails

Origin ID

615843;

UMLS CUI

C1539265;

Automatic exact mappings (from CISMeF team)
- ARSA wt Allele [NCIt concept]
- DEGS1 Gene [NCIt concept]
- DEGS1 wt Allele [NCIt concept]
- Metachromatic leucodystrophy (disorder) [SNOMED CT concept]
- Metachromatic leukodystrophy [ORDO Disease]
- Sphingolipid Delta(4)-Desaturase DES1 [NCIt concept]
- delta 4-desaturase, sphingolipid 1 [HGNC gene]
- metachromatic leukodystrophy [DO Concept]
HGNC gene
- delta 4-desaturase, sphingolipid 1 [HGNC gene]
NCIt concept(s)
- DEGS1 Gene [NCIt concept]
- DEGS1 wt Allele [NCIt concept]
- Sphingolipid Delta(4)-Desaturase DES1 [NCIt concept]
Phenotypes related
- Leukodystrophy, hypomyelinating, 18 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- DEGS1 Gene [NCIt concept]
- delta 4-desaturase, sphingolipid 1 [HGNC gene]

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

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