Send us a Message



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

GENE - TERM ANNOTATION REPORT

RGD ID: 18711785
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: DEGS1
Name: delta 4-desaturase, sphingolipid 1
Acc ID: DOID:10579
Term: leukodystrophy
Definition: A cerebral degeneration characterized by dysfunction of the white matter of the brain. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Leukodystrophy "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)
DEGS1 ISODEGS1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: LeukodystrophyPMID:25741868 PMID:30620337 PMID:31186544
Go Back to source page   Continue to Ontology report