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GENE - TERM ANNOTATION REPORT

RGD ID: 1332229
Species: Mus musculus
RGD Object: Gene
Symbol: Slc25a46
Name: solute carrier family 25, member 46
Acc ID: DOID:0080068
Term: Charcot-Marie-Tooth disease type 6
Definition: A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Charcot-Marie-Tooth_classifications "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/26168012 "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)
Slc25a46 IAGP 13592920MouseDOOMIM:601152 | OMIM:616505 
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