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GENE - TERM ANNOTATION REPORT

RGD ID: 1312898
Species: Mus musculus
RGD Object: Gene
Symbol: Dse
Name: dermatan sulfate epimerase
Acc ID: DOID:0080553
Term: congenital disorder of glycosylation Iaa
Definition: A congenital disorder of glycosylation I that is characterized by fibroblasts with reduced dolichol profiles and enhanced accumulation of free cholesterol and has_material_basis_in homozygous mutation in the NUS1 gene on chromosome 6q22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/25066056 "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)
Dse ISODSE (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAAPMID:28492532 PMID:29100083 PMID:31273557
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