Prosaposin - CISMeF

Preferred Label : Prosaposin;

Symbol : PSAP;

CISMeF acronym : PSAP;

Type : Gene;

Alternative titles and symbols : Sphingolipid activator protein 1; Sphingolipid activator protein 2; SAP1; SAP2;

Included titles and symbols : Saposin a; Saposin b; Saposin D; Saposin C; SAPA; SAPB; SAPC; SAPD;

Ensembl ID : ENSG00000197746;

Prefixed ID : *176801;

Details

Origin ID

176801;

UMLS CUI

C1418975;

Automatic exact mappings (from CISMeF team)
- ELK3 wt Allele [NCIt concept]
- ELK4 wt Allele [NCIt concept]
- ETS Domain-Containing Protein Elk-3 [NCIt concept]
- ETS Domain-Containing Protein Elk-4 [NCIt concept]
- PSAP Gene [NCIt concept]
- PSAP gene [LOINC component]
- PSAP wt Allele [NCIt concept]
- Prosaposin [NCIt concept]
- Pulmonary artery systolic pressure (observable entity) [SNOMED CT concept]
- SFTPA1 wt Allele [NCIt concept]
- SFTPA2 wt Allele [NCIt concept]
- Saposin-A [NCIt concept]
- Saposin-B [NCIt concept]
- Saposin-C [NCIt concept]
- Serratus Plane Block [NCIt concept]
- mitochondrial carrier 1 [HGNC gene]
- prosaposin [ORDO Gene]
- prosaposin [HGNC gene]
- saposin A [MeSH concept]
- saposin B [MeSH concept]
- saposin C [MeSH concept]
- saposin D [MeSH concept]
- saposins [MeSH Descriptor]
- saposins [MeSH concept]
- sphingolipid activator protein activity [GO term]
HGNC gene
- prosaposin [HGNC gene]
NCIt concept(s)
- PSAP Gene [NCIt concept]
- PSAP wt Allele [NCIt concept]
- Prosaposin [NCIt concept]
- Saposin-A [NCIt concept]
- Saposin-B [NCIt concept]
- Saposin-B-Val [NCIt concept]
- Saposin-C [NCIt concept]
- Saposin-D [NCIt concept]
ORDO concept(s)
- prosaposin [ORDO Gene]
Phenotypes related
- Combined saposin deficiency [OMIM Phenotype]
- Gaucher disease, atypical, due to saposin C deficiency [OMIM Phenotype]
- Krabbe disease, atypical, due to saposin a deficiency [OMIM Phenotype]
- Metachromatic leukodystrophy due to saposin b deficiency [OMIM Phenotype]
- Parkinson disease 24, autosomal dominant, susceptibility to [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- PSAP Gene [NCIt concept]
- PSAP gene [LOINC component]
- prosaposin [HGNC gene]

Keyword's position in hierarchy(ies) :

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