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GENE - TERM ANNOTATION REPORT

RGD ID: 18922687
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Fbxw9
Name: F-box and WD repeat domain containing 9
Acc ID: DOID:0050990
Term: episodic ataxia type 2
Definition: An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A. (DO)
Definition Source(s): https://www.omim.org/entry/108500 "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)
Fbxw9 ISOFBXW9 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Episodic ataxia type 2PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:25735478 PMID:26814174 PMID:27250579 PMID:28007337 PMID:28492532 PMID:31139143
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