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VARIANT - TERM ANNOTATION REPORT

RGD ID: 26902008
Species: Homo sapiens
RGD Object: Variant
Symbol: CV853033
Name: NM_000116.5(TAFAZZIN):c.541+5G>A
Acc ID: DOID:0050476
Term: Barth syndrome
Definition: A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Barth_syndrome "DO" "DO", http://rarediseases.info.nih.gov/gard/5890/barth-syndrome/resources/1 "DO" "DO", http://www.ninds.nih.gov/disorders/barth/barth.htm "DO" "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1116/viewAbstract "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)
CV853033 IAGP 8554872ClinVarClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2PMID:17576681 PMID:28492532 PMID:9536098
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