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GENE - TERM ANNOTATION REPORT

RGD ID: 67399
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Insrr
Name: insulin receptor-related receptor
Acc ID: DOID:0050539
Term: Charcot-Marie-Tooth disease type 2
Definition: A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. (DO)
Definition Source(s): http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/25098539 "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)
Insrr ISOINSRR (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577
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