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GENE - TERM ANNOTATION REPORT

RGD ID: 621008
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Abi1
Name: abl-interactor 1
Acc ID: DOID:0070239
Term: primary coenzyme Q10 deficiency 2
Definition: A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17332895 "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)
Abi1 ISOABI1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Deafness-encephaloneuropathy-obesity-valvulopathy syndromePMID:25741868
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