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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking CLPP and Perrault syndrome in Homo sapiens.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Clpp (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 14 RGD objects have been annotated to Perrault syndrome  (DOID:0050857)
  • 5 papers in RGD have been used to annotate CLPP
  • Curation Notes: OMIM:233400 | OMIM:614129 | OMIM:614926 | OMIM:615300


    • An association has been curated linking CLPP and Perrault syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8572512 (Homo sapiens)
  • 14 RGD objects have been annotated to Perrault syndrome  (DOID:0050857)
  • 5 papers in RGD have been used to annotate CLPP
  • Curation Notes: ClinVar Annotator: match by term: Perrault syndrome
  • Original References(s): PMID:17690910 PMID:21660509 PMID:23541340 PMID:24824130


    • An association has been curated linking CLPP and Perrault syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8572511 (Homo sapiens)
  • 14 RGD objects have been annotated to Perrault syndrome  (DOID:0050857)
  • 5 papers in RGD have been used to annotate CLPP
  • Curation Notes: ClinVar Annotator: match by term: Perrault syndrome
  • Original References(s): PMID:22037954 PMID:23541340 PMID:24824130


    • An association has been curated linking CLPP and Perrault syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8572513 (Homo sapiens)
  • 14 RGD objects have been annotated to Perrault syndrome  (DOID:0050857)
  • 5 papers in RGD have been used to annotate CLPP
  • Curation Notes: ClinVar Annotator: match by term: Perrault syndrome
  • Original References(s): PMID:23541340 PMID:24824130


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