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GENE - TERM ANNOTATION REPORT

RGD ID: 69337
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Trpv4
Name: transient receptor potential cation channel, subfamily V, member 4
Acc ID: DOID:0110148
Term: Charcot-Marie-Tooth disease type 1A
Definition: A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22). (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/1677316 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/21326314 "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)
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