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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Trpv4 and autosomal dominant distal hereditary motor neuronopathy 8 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]
  • 1 RGD objects have been annotated to autosomal dominant distal hereditary motor neuronopathy 8  (DOID:0111215)
  • 13 papers in RGD have been used to annotate Trpv4
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:20037588


    • An association has been curated linking Trpv4 and autosomal dominant distal hereditary motor neuronopathy 8 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with TRPV4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to autosomal dominant distal hereditary motor neuronopathy 8  (DOID:0111215)
  • 13 papers in RGD have been used to annotate Trpv4


    • An association has been curated linking Trpv4 and autosomal dominant distal hereditary motor neuronopathy 8 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]
  • 1 RGD objects have been annotated to autosomal dominant distal hereditary motor neuronopathy 8  (DOID:0111215)
  • 13 papers in RGD have been used to annotate Trpv4
  • Curation Notes: ClinVar Annotator: match by term: Autosomal dominant congenital benign spinal muscular atrophy | ClinVar Annotator: match by term: Distal spinal muscular atrophy, congenital nonprogressive | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 8
  • Original References(s): PMID:10463355 PMID:15668982 PMID:17879966 PMID:19232556 PMID:19661060 PMID:19666518 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20460441 PMID:20503319 PMID:20577006 PMID:21115951 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:21658220 PMID:21964574 PMID:22065612 PMID:22291064 PMID:22419508 PMID:22526352 PMID:22675077 PMID:22689196 PMID:22702953 PMID:22851605 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25326637 PMID:25741868 PMID:25900305 PMID:26048687 PMID:26110311 PMID:26377240 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27549087 PMID:27751652 PMID:28251916 PMID:28492532 PMID:28687525 PMID:28898540 PMID:29776788 PMID:29858556 PMID:30230566 PMID:30373780 PMID:31041394 PMID:31191204 PMID:31475037 PMID:32376792 PMID:32381727 PMID:32579787 PMID:33060286 PMID:33303739 PMID:34008892 PMID:37091313 PMID:39033378 PMID:4056805 PMID:8179305


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