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GENE - TERM ANNOTATION REPORT

RGD ID: 1307879
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Nus1
Name: NUS1 dehydrodolichyl diphosphate synthase subunit
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)
Nus1 ISONUS1 (Homo sapiens)7240710OMIM  
Nus1 ISONUS1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Nus1 ISONUS1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital disorder of glycosylation, type 1aa | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAAPMID:16199547 PMID:17576681 PMID:25066056 PMID:25741868 PMID:28492532 PMID:29100083 PMID:30348779 PMID:31273557 PMID:32334381 PMID:33731878 PMID:34532305 PMID:36672771 PMID:9536098
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