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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Actn2 and Dilated Cardiomyopathy with Left Ventricular Noncompaction 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 ACTN2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 94 RGD objects have been annotated to Dilated Cardiomyopathy with Left Ventricular Noncompaction  (DOID:9000497)
  • 9 papers in RGD have been used to annotate Actn2
  • Curation Notes: ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy
  • Original References(s): PMID:25741868 PMID:28492532 PMID:29447731 PMID:31110529 PMID:31333075 PMID:31568572 PMID:31737537 PMID:33500567 PMID:34540771


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