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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Ppp1r13l and ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES 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 PPP1R13L (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES  (DOID:9006177)
  • 7 papers in RGD have been used to annotate Ppp1r13l


    • An association has been curated linking Ppp1r13l and ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES 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 PPP1R13L (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES  (DOID:9006177)
  • 7 papers in RGD have been used to annotate Ppp1r13l
  • Curation Notes: ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities
  • Original References(s): PMID:25741868 PMID:28069640 PMID:32666529 PMID:35924320 PMID:35933355


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