Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking TRPV4 and Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal in Sus scrofa.        

  • 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 Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal  (DOID:9004825)
  • 0 papers in RGD have been used to annotate TRPV4
  • Curation Notes: ClinVar Annotator: match by term: Skeletal dysplasia and progressive central nervous system degeneration, lethal
  • Original References(s): PMID:20425821 PMID:20577006 PMID:21573172 PMID:22791502 PMID:25741868 PMID:28492532


  • Go Back to source page   Continue to Ontology report