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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking PIEZO1 and dehydrated hereditary stomatocytosis 1 in Pan paniscus.        

  • 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 PIEZO1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to dehydrated hereditary stomatocytosis 1  (DOID:0111576)
  • 0 papers in RGD have been used to annotate PIEZO1


    • An association has been curated linking PIEZO1 and dehydrated hereditary stomatocytosis 1 in Pan paniscus.        

  • 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]
  • 2 RGD objects have been annotated to dehydrated hereditary stomatocytosis 1  (DOID:0111576)
  • 0 papers in RGD have been used to annotate PIEZO1
  • Curation Notes: ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH
  • Original References(s): PMID:16898969 PMID:17253968 PMID:21944700 PMID:22529292 PMID:23479567 PMID:23487776 PMID:23581886 PMID:23695678 PMID:23973043 PMID:24033266 PMID:24314002 PMID:25741868 PMID:25741909 PMID:28492532 PMID:28518170 PMID:28716860 PMID:28971506 PMID:29449963 PMID:29952828 PMID:5559828 PMID:89283 PMID:9827909


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