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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Trpv4 and spinal muscular atrophy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TRPV4 (Homo sapiens) [(EXP) inferred from experiment]
  • 153 RGD objects have been annotated to spinal muscular atrophy  (DOID:12377)
  • 13 papers in RGD have been used to annotate Trpv4
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:22187434


    • An association has been curated linking Trpv4 and spinal muscular atrophy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TRPV4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 153 RGD objects have been annotated to spinal muscular atrophy  (DOID:12377)
  • 13 papers in RGD have been used to annotate Trpv4
  • Curation Notes: ClinVar Annotator: match by term: Distal spinal muscular atrophy
  • Original References(s): PMID:20037586 PMID:20037587 PMID:20037588 PMID:20460441 PMID:21336783 PMID:22702953 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28251916 PMID:28492532


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