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GENE - TERM ANNOTATION REPORT

RGD ID: 18711785
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: DEGS1
Name: delta 4-desaturase, sphingolipid 1
Acc ID: DOID:0070399
Term: hypomyelinating leukodystrophy 18
Definition: A hypomyelinating leukodystrophy characterized by onset of global developmental delay in infancy or early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the DEGS1 gene on chromosome 1q42. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/30620337/ "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)7240710OMIM  
DEGS1 ISODEGS1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: DEGS1-related condition | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 18PMID:25741868 PMID:28492532 PMID:30620337 PMID:30620338 PMID:31186544
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