ASAH1 wt Allele

Preferred Label : ASAH1 wt Allele;

NCIt synonyms : N-Acylsphingosine Amidohydrolase (Acid Ceramidase) 1 wt Allele; PHP; SMAPME; ACDase; ASAH; AC; PHP32; FLJ21558;

NCIt definition : Human ASAH1 wild-type allele is located in the vicinity 8p22 of and is approximately 29 kb in length. This allele, which encodes acid ceramidase protein, is involved in ceramide metabolism. Mutation of the gene is associated with both Farber lipogranulomatosis and spinal muscular atrophy with progressive myoclonic epilepsy.;

GenBank Accession Number : U70063;

Détails

Origin ID

C103900;

UMLS CUI

C3539770;

Automatic exact mappings (from CISMeF team)
- 1-(1-phenylcyclohexyl)pyrrolidine [MeSH Supplementary Concept]
- N-acylsphingosine amidohydrolase 1 [ORDO Gene]
- N-acylsphingosine amidohydrolase 1 [OMIM gene]
- PHP [OMIConto metadata]
- Pseudohypoparathyroidism [ICD-11 Subcategory]
- Pseudohypoparathyroidism, type II [OMIM Phenotype]
- SRY-box transcription factor 3 [ORDO Gene]
- Spinal muscular atrophy with progressive myoclonic epilepsy [OMIM Phenotype]
- Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [ORDO Disease]
- antibodies [MeSH Descriptor]
- anticoagulants [MeSH Descriptor]
- anticonvulsants [MeSH Descriptor]
- calcium channel blockers [MeSH Descriptor]
- frequency-domain fluorometry [IUPAC Term]
- heart arrest [MeSH Descriptor]
- posterior parahippocampal gyrus [UBERON concept]
- pseudohypoparathyroidism type 2 [MeSH Supplementary Concept]
- spinal muscular atrophy with progressive myoclonic epilepsy [DO Concept]
OMIM relation
- N-acylsphingosine amidohydrolase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 19p13.3 [NCIt concept]
gene_is_element_in_pathway
- Ceramide Signaling Pathway PID [NCIt concept]
- Lysosome Assembly Pathway [NCIt concept]
- Phospholipid Signaling Pathway [NCIt concept]
- Sphingolipid Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Lipid Metabolic Process [NCIt concept]

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

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