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GENE - TERM ANNOTATION REPORT

RGD ID: 731649
Species: Homo sapiens
RGD Object: Gene
Symbol: WFS1
Name: wolframin ER transmembrane glycoprotein
Acc ID: DOID:0060358
Term: multiple acyl-CoA dehydrogenase deficiency
Definition: An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii "DO" "DO", https://en.wikipedia.org/wiki/Glutaric_acidemia_type_2 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/12815589 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/22580358 "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)
WFS1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Glutaric acidemia type 2PMID:25326637 PMID:25741868 PMID:27068579 PMID:28492532
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