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 Piezo1 and mucopolysaccharidosis IVA 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 PIEZO1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to mucopolysaccharidosis IVA  (DOID:0111391)
  • 4 papers in RGD have been used to annotate Piezo1
  • Curation Notes: ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A
  • Original References(s): PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 PMID:34472180 PMID:35212421


  • Go Back to source page   Continue to Ontology report