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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Piezo2 and distal arthrogryposis type 5 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 PIEZO2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to distal arthrogryposis type 5  (DOID:0111608)
  • 4 papers in RGD have been used to annotate Piezo2


    • An association has been curated linking Piezo2 and distal arthrogryposis type 5 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 PIEZO2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to distal arthrogryposis type 5  (DOID:0111608)
  • 4 papers in RGD have been used to annotate Piezo2
  • Curation Notes: ClinVar Annotator: match by term: Arthrogryposis with oculomotor limitation and electroretinal abnormalities | ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
  • Original References(s): PMID:11152147 PMID:15103714 PMID:1941966 PMID:23487782 PMID:24726473 PMID:25741868 PMID:27714920 PMID:28492532 PMID:31680123 PMID:32860008 PMID:32901917 PMID:8423615 PMID:8533802


    • An association has been curated linking Piezo2 and distal arthrogryposis type 5 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 PIEZO2 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to distal arthrogryposis type 5  (DOID:0111608)
  • 4 papers in RGD have been used to annotate Piezo2
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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