SMPD1 Gene - CISMeF

Preferred Label : SMPD1 Gene;

NCIt synonyms : Sphingomyelin Phosphodiesterase 1, Acid Lysosomal Gene;

NCIt related terms : SMPD1;

CISMeF acronym : SMPD1;

NCIt definition : This gene plays a role in ceramide metabolism.;

Details

Origin ID

C105019;

UMLS CUI

C1420259;

Automatic exact mappings (from CISMeF team)
- SMPD1 gene [LOINC component]
- Sphingomyelin phosphodiesterase 1, acid lysosomal [OMIM gene]
- sphingomyelin phosphodiesterase 1 [ORDO Gene]
HGNC gene
- sphingomyelin phosphodiesterase 1 [HGNC gene]
OMIM relation
- Sphingomyelin phosphodiesterase 1, acid lysosomal [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- SMPD1 gene [LOINC component]
- Sphingomyelin phosphodiesterase 1, acid lysosomal [OMIM gene]
- sphingomyelin phosphodiesterase 1 [HGNC gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- Sphingomyelin Phosphodiesterase [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Niemann-Pick Disease, Type A [NCIt concept]
- Niemann-Pick Disease, Type B [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Phospholipid Metabolism [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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