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GENE - TERM ANNOTATION REPORT

RGD ID: 1549719
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Smpd1
Name: sphingomyelin phosphodiesterase 1
Acc ID: DOID:14504
Term: Niemann-Pick disease
Definition: A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Niemann-Pick_disease "DO" "DO", https://rarediseases.info.nih.gov/diseases/13334/niemann-pick-disease "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Smpd1susceptibilityISOSMPD1 (Homo sapiens)1601336RGDNiemann-Pick Disease, Type A, OMIM:257200, Type B, OMIM:607616;DNA:deletions, missense mutations: :multiple 
Smpd1 ISOSMPD1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:12631268
Smpd1 ISOSMPD1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Acid sphingomyelinase deficiency | ClinVar Annotator: match by term: Niemann-Pick diseasePMID:1391960 PMID:15221801 PMID:18815062 PMID:1885770 PMID:2023926 PMID:25741868 PMID:27338287 PMID:27725636 PMID:28492532 PMID:31965297 PMID:32292456
Smpd1 ISSSmpd1 (Mus musculus)13592920MouseDO  
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