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GENE - TERM ANNOTATION REPORT

RGD ID: 1303035
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Kif5a
Name: kinesin family member 5A
Acc ID: DOID:0110173
Term: Charcot-Marie-Tooth disease axonal type 2U
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/23729695 "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)
Kif5a ISOKIF5A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2UPMID:28492532
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