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GENE - TERM ANNOTATION REPORT

RGD ID: 12381920
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: TRPV4
Name: transient receptor potential cation channel subfamily V member 4
Acc ID: DOID:440
Term: neuromuscular disease
Definition: A neuropathy that affect the nerves that control the voluntary muscles. (DO)
Definition Source(s): http://www.nlm.nih.gov/medlineplus/neuromusculardisorders.html "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)
TRPV4 ISOTRPV4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuromuscular disease | ClinVar Annotator: match by term: Neuromuscular disorderPMID:12884428 PMID:1520078 PMID:15668982 PMID:18587396 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20425821 PMID:20460441 PMID:20503319 PMID:20577006 PMID:21115951 PMID:2128891 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:22065612 PMID:22419508 PMID:22675077 PMID:22702953 PMID:24319099 PMID:24575025 PMID:24577120 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25703509 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26170305 PMID:26467025 PMID:26948711 PMID:27549087 PMID:27751652 PMID:28492532 PMID:29858556 PMID:30230566 PMID:30373780 PMID:31041394 PMID:31191204 PMID:31468327 PMID:32579787 PMID:33060286 PMID:34529350 PMID:39033378 PMID:4056805 PMID:8179305
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