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GENE - TERM ANNOTATION REPORT

RGD ID: 1308135
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Bscl2
Name: BSCL2 lipid droplet biogenesis associated, seipin
Acc ID: DOID:811
Term: lipodystrophy
Definition: A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/25690482 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/25833179 "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)
Bscl2 ISOBSCL2 (Homo sapiens)1600601RGDCGL2, OMIM:269700, DNA:frameshift:exon 
Bscl2 ISOBSCL2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:25462787
Bscl2 ISOBSCL2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: LipodystrophyPMID:18057387 PMID:25741868
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