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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking MYL1 and congenital myopathy 14 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 MYL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to congenital myopathy 14  (DOID:0081346)
  • 0 papers in RGD have been used to annotate MYL1


    • An association has been curated linking MYL1 and congenital myopathy 14 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 MYL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to congenital myopathy 14  (DOID:0081346)
  • 0 papers in RGD have been used to annotate MYL1
  • Curation Notes: ClinVar Annotator: match by term: Congenital myopathy with reduced type 2 muscle fibers | ClinVar Annotator: match by term: MYL1-related condition | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY
  • Original References(s): PMID:25741868 PMID:30215711


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