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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Acta1 and nemaline myopathy 3 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 ACTA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to nemaline myopathy 3  (DOID:0110927)
  • 26 papers in RGD have been used to annotate Acta1


    • An association has been curated linking Acta1 and nemaline myopathy 3 in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Acta1 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to nemaline myopathy 3  (DOID:0110927)
  • 26 papers in RGD have been used to annotate Acta1
  • Curation Notes: OMIM:161800


    • An association has been curated linking Acta1 and nemaline myopathy 3 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with ACTA1 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to nemaline myopathy 3  (DOID:0110927)
  • 26 papers in RGD have been used to annotate Acta1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Acta1 and nemaline myopathy 3 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 ACTA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to nemaline myopathy 3  (DOID:0110927)
  • 26 papers in RGD have been used to annotate Acta1
  • Curation Notes: ClinVar Annotator: match by term: Nemaline myopathy 3, autosomal dominant or recessive | ClinVar Annotator: match by term: Nemaline myopathy 3, with intranuclear rods | ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the alpha-actin gene
  • Original References(s): PMID:10508519 PMID:12921789 PMID:1351946 PMID:15226407 PMID:15236405 PMID:15468086 PMID:18059071 PMID:18414213 PMID:19562689 PMID:20301436 PMID:22095987 PMID:22825594 PMID:23394784 PMID:24356988 PMID:24642510 PMID:25635128 PMID:25741868 PMID:25938801 PMID:26172852 PMID:26337181 PMID:27447704 PMID:28492532 PMID:29288010 PMID:30732915 PMID:30792901 PMID:4952447 PMID:9401010


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