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GENE - TERM ANNOTATION REPORT

RGD ID: 1308513
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Dcaf8
Name: DDB1 and CUL4 associated factor 8
Acc ID: DOID:0090069
Term: giant axonal neuropathy 2
Definition: An axonal neuopathy that is characterized by distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the DDB1- and CUL4-associated factor 8 (DCAF8) gene on chromosome 1q23. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/giant-axonal-neuropathy "DO" "DO", MIM:610100 "DO" "DO", PMID:24500646 "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)
Dcaf8 ISODCAF8 (Homo sapiens)7240710OMIM  
Dcaf8 ISODCAF8 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Dcaf8 ISODCAF8 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: DCAF8-related condition | ClinVar Annotator: match by term: Giant axonal neuropathy 2PMID:24500646 PMID:25741868 PMID:28492532 PMID:3859241
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