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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Chkb and megaconial type congenital muscular dystrophy 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 CHKB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 11 RGD objects have been annotated to megaconial type congenital muscular dystrophy  (DOID:0110632)
  • 18 papers in RGD have been used to annotate Chkb


  • An association has been curated linking Chkb and megaconial type congenital muscular dystrophy 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 CHKB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 11 RGD objects have been annotated to megaconial type congenital muscular dystrophy  (DOID:0110632)
  • 18 papers in RGD have been used to annotate Chkb
  • Curation Notes: ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy
  • Original References(s): PMID:16199547 PMID:17576681 PMID:21665002 PMID:23692895 PMID:23945283 PMID:24997086 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26782016 PMID:28005197 PMID:28492532 PMID:28902413 PMID:7767093 PMID:9427222 PMID:9536098


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