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GENE - TERM ANNOTATION REPORT

5 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 CRRD objects have been annotated to nemaline myopathy 3  (DOID:0110927)
  • 24 papers in CRRD 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 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 CRRD objects have been annotated to nemaline myopathy 3  (DOID:0110927)
  • 24 papers in CRRD have been used to annotate Acta1
  • Curation Notes: ClinVar Annotator: match by term: Nemaline myopathy 3, autosomal dominant or recessive
  • Original References(s): PMID:18414213


  • 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 CRRD objects have been annotated to nemaline myopathy 3  (DOID:0110927)
  • 24 papers in CRRD have been used to annotate Acta1
  • Curation Notes: ClinVar Annotator: match by synonym: Myopathy, actin, congenital, with cores
  • Original References(s): PMID:15520409


  • 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 CRRD objects have been annotated to nemaline myopathy 3  (DOID:0110927)
  • 24 papers in CRRD have been used to annotate Acta1
  • Curation Notes: ClinVar Annotator: match by term: Nemaline myopathy 3, autosomal dominant or recessive
  • Original References(s): PMID:25741868


  • 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 CRRD objects have been annotated to nemaline myopathy 3  (DOID:0110927)
  • 24 papers in CRRD have been used to annotate Acta1
  • Curation Notes: ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the alpha-actin gene
  • Original References(s): PMID:19562689, PMID:24642510, PMID:26172852, PMID:28492532, PMID:30311386


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.