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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking CCDC78 and centronuclear myopathy 4 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 CCDC78 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to centronuclear myopathy 4  (DOID:0111224)
  • 0 papers in RGD have been used to annotate CCDC78


    • An association has been curated linking CCDC78 and centronuclear myopathy 4 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 CCDC78 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to centronuclear myopathy 4  (DOID:0111224)
  • 0 papers in RGD have been used to annotate CCDC78
  • Curation Notes: ClinVar Annotator: match by term: Myopathy, centronuclear, 4
  • Original References(s): PMID:16199547 PMID:17576681 PMID:18414213 PMID:22818856 PMID:25741868 PMID:26467025 PMID:26633542 PMID:28492532 PMID:9536098


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