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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking CEP63 and myofibrillar myopathy 7 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:11541257 (Homo sapiens)
  • 3 RGD objects have been annotated to myofibrillar myopathy 7  (DOID:0080098)
  • 4 papers in RGD have been used to annotate CEP63
  • Curation Notes: ClinVar Annotator: match by term: Myofibrillar myopathy 7
  • Original References(s): PMID:27484770


    • An association has been curated linking CEP63 and myofibrillar myopathy 7 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:11541251 (Homo sapiens)
  • 3 RGD objects have been annotated to myofibrillar myopathy 7  (DOID:0080098)
  • 4 papers in RGD have been used to annotate CEP63
  • Curation Notes: ClinVar Annotator: match by term: Myofibrillar myopathy 7
  • Original References(s): PMID:27485408


    • An association has been curated linking CEP63 and myofibrillar myopathy 7 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:126728629 (Homo sapiens)
  • 3 RGD objects have been annotated to myofibrillar myopathy 7  (DOID:0080098)
  • 4 papers in RGD have been used to annotate CEP63
  • Curation Notes: ClinVar Annotator: match by term: Myofibrillar myopathy 7
  • Original References(s): PMID:30591934


    • An association has been curated linking CEP63 and myofibrillar myopathy 7 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:126729273|RGD:126734768|RGD:150336485|RGD:150336749|RGD:150458914|RGD:150503762|RGD:243058162|RGD:243058308|RGD:404998514 (Homo sapiens) & RGD:126729273|RGD:126734768|RGD:150336485|RGD:150336749|RGD:150458914|RGD:150503762|RGD:243058162|RGD:243058308|RGD:404998514 (Homo sapiens) & RGD:126729273|RGD:126734768|RGD:150336485|RGD:150336749|RGD:150458914|RGD:150503762|RGD:243058162|RGD:243058308|RGD:404998514 (Homo sapiens) & RGD:126729273|RGD:126734768|RGD:150336485|RGD:150336749|RGD:150458914|RGD:150503762|RGD:243058162|RGD:243058308|RGD:404998514 (Homo sapiens) & RGD:126729273|RGD:126734768|RGD:150336485|RGD:150336749|RGD:150458914|RGD:150503762|RGD:243058162|RGD:243058308|RGD:404998514 (Homo sapiens) & RGD:126729273|RGD:126734768|RGD:150336485|RGD:150336749|RGD:150458914|RGD:150503762|RGD:243058162|RGD:243058308|RGD:404998514 (Homo sapiens) & RGD:126729273|RGD:126734768|RGD:150336485|RGD:150336749|RGD:150458914|RGD:150503762|RGD:243058162|RGD:243058308|RGD:404998514 (Homo sapiens) & RGD:126729273|RGD:126734768|RGD:150336485|RGD:150336749|RGD:150458914|RGD:150503762|RGD:243058162|RGD:243058308|RGD:404998514 (Homo sapiens) & RGD:126729273|RGD:126734768|RGD:150336485|RGD:150336749|RGD:150458914|RGD:150503762|RGD:243058162|RGD:243058308|RGD:404998514 (Homo sapiens)
  • 3 RGD objects have been annotated to myofibrillar myopathy 7  (DOID:0080098)
  • 4 papers in RGD have been used to annotate CEP63
  • Curation Notes: ClinVar Annotator: match by term: Myofibrillar myopathy 7
  • Original References(s): PMID:25741868


    • An association has been curated linking CEP63 and myofibrillar myopathy 7 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:151662833|RGD:401867704 (Homo sapiens) & RGD:151662833|RGD:401867704 (Homo sapiens)
  • 3 RGD objects have been annotated to myofibrillar myopathy 7  (DOID:0080098)
  • 4 papers in RGD have been used to annotate CEP63
  • Curation Notes: ClinVar Annotator: match by term: Myofibrillar myopathy 7


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