Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

RGD ID: 11771717
Species: Pan paniscus
RGD Object: Gene
Symbol: SMPD1
Name: sphingomyelin phosphodiesterase 1
Acc ID: DOID:9004942
Term: Niemann-Pick Disease, Intermediate, Protracted Neurovisceral
Definition: null
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)
SMPD1 ISOSMPD1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Niemann-pick disease, intermediate, protracted neurovisceralPMID:14681755 PMID:15234149 PMID:15241805 PMID:15877209 PMID:17011332 PMID:17360762 PMID:23412609 PMID:23420949 PMID:23430949 PMID:25741868 PMID:26981555 PMID:28492532 PMID:28703315 PMID:7762557 PMID:8051942 PMID:9266408
Go Back to source page   Continue to Ontology report