Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

GENE - TERM ANNOTATION REPORT

RGD ID: 1604803
Species: Homo sapiens
RGD Object: Gene
Symbol: TRPV4
Name: transient receptor potential cation channel subfamily V member 4
Acc ID: DOID:12377
Term: spinal muscular atrophy
Definition: A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Spinal_muscular_atrophy "DO" "DO", https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy "DO" "DO", https://www.genome.gov/Genetic-Disorders/Spinal-Muscular-Atrophy "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/26022173 "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 EXP 11554173CTDCTD Direct Evidence: marker/mechanismPMID:22187434
TRPV4 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal spinal muscular atrophyPMID:28492532
TRPV4 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal spinal muscular atrophyPMID:25741868 PMID:25900305 PMID:26392352 PMID:28251916 PMID:28492532
TRPV4 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal spinal muscular atrophyPMID:20037586 PMID:20037587 PMID:20037588 PMID:20460441 PMID:21336783 PMID:22702953 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28492532
Go Back to source page   Continue to Ontology report