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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking LOC103242383 and congenital myopathy 6 in Chlorocebus sabaeus.        

  • 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 MYH2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 12 RGD objects have been annotated to congenital myopathy 6  (DOID:0080719)
  • 0 papers in RGD have been used to annotate LOC103242383


    • An association has been curated linking LOC103242383 and congenital myopathy 6 in Chlorocebus sabaeus.        

  • 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 MYH2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 12 RGD objects have been annotated to congenital myopathy 6  (DOID:0080719)
  • 0 papers in RGD have been used to annotate LOC103242383
  • Curation Notes: ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
  • Original References(s): PMID:11114175 PMID:11889243 PMID:15548556 PMID:15741996 PMID:16130113 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 PMID:20418530 PMID:22349865 PMID:22406018 PMID:23388406 PMID:23489661 PMID:24033266 PMID:24193343 PMID:25617006 PMID:25640679 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29934118 PMID:31127727 PMID:31321302 PMID:31407473 PMID:32578970 PMID:33250842 PMID:34459418 PMID:35239206 PMID:36774715 PMID:9536098


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