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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Acta1 and congenital myopathy 4A in Mus musculus.        

  • 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 ACTA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to congenital myopathy 4A  (DOID:0080102)
  • 13 papers in RGD have been used to annotate Acta1
  • Curation Notes: ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders
  • Original References(s): PMID:10508519 PMID:10528865 PMID:12921789 PMID:15226407 PMID:15236405 PMID:15468086 PMID:17387733 PMID:17576681 PMID:18059071 PMID:18414213 PMID:19206168 PMID:19562689 PMID:20301436 PMID:21520333 PMID:22825594 PMID:23757202 PMID:24033266 PMID:24356988 PMID:24642510 PMID:25741868 PMID:26172852 PMID:26467025 PMID:27447704 PMID:28492532 PMID:29172004 PMID:30195123 PMID:32746448 PMID:9536098


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