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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Actn2 and Distal Myopathy 6 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 ACTN2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Distal Myopathy 6  (DOID:9004033)
  • 14 papers in RGD have been used to annotate Actn2


    • An association has been curated linking Actn2 and Distal Myopathy 6 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 ACTN2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Distal Myopathy 6  (DOID:9004033)
  • 14 papers in RGD have been used to annotate Actn2
  • Curation Notes: ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant
  • Original References(s): PMID:14567970 PMID:17576681 PMID:20022194 PMID:20474083 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24082139 PMID:24503780 PMID:25611685 PMID:25626705 PMID:25741868 PMID:26688388 PMID:26899768 PMID:27287556 PMID:27532257 PMID:27896284 PMID:27930701 PMID:28492532 PMID:28771489 PMID:28790153 PMID:28798025 PMID:29247119 PMID:29386531 PMID:30847666 PMID:30900782 PMID:31110529 PMID:31333075 PMID:31568572 PMID:31737537 PMID:31983221 PMID:32527005 PMID:32746448 PMID:32826072 PMID:34935411 PMID:35026164 PMID:37477868 PMID:9536098


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