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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking Acta2 and Multisystemic Smooth Muscle Dysfunction Syndrome 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 ACTA2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to Multisystemic Smooth Muscle Dysfunction Syndrome  (DOID:9007900)
  • 16 papers in CRRD have been used to annotate Acta2


  • An association has been curated linking Acta2 and Multisystemic Smooth Muscle Dysfunction Syndrome 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 ACTA2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to Multisystemic Smooth Muscle Dysfunction Syndrome  (DOID:9007900)
  • 16 papers in CRRD have been used to annotate Acta2
  • Curation Notes: ClinVar Annotator: match by OMIM:613834


  • An association has been curated linking Acta2 and Multisystemic Smooth Muscle Dysfunction Syndrome 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 ACTA2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to Multisystemic Smooth Muscle Dysfunction Syndrome  (DOID:9007900)
  • 16 papers in CRRD have been used to annotate Acta2
  • Curation Notes: ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome
  • Original References(s): PMID:25741868, PMID:28492532


  • An association has been curated linking Acta2 and Multisystemic Smooth Muscle Dysfunction Syndrome 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 ACTA2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to Multisystemic Smooth Muscle Dysfunction Syndrome  (DOID:9007900)
  • 16 papers in CRRD have been used to annotate Acta2
  • Curation Notes: ClinVar Annotator: match by term: MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY
  • Original References(s): PMID:10532176, PMID:13129918, PMID:14730227, PMID:15138499, PMID:15472996, PMID:19409525, PMID:20734336, PMID:20970362, PMID:22302747, PMID:22543189, PMID:22752479, PMID:22790431, PMID:22831780, PMID:22946110, PMID:23253043, PMID:23613326, PMID:24033266, PMID:24293535, PMID:24621862, PMID:24998021, PMID:25326635, PMID:25741868, PMID:25759435, PMID:25944730, PMID:26034244, PMID:26637293, PMID:27176728, PMID:27481187, PMID:27549731, PMID:27551047, PMID:28492532, PMID:29300374, PMID:30311386


  • An association has been curated linking Acta2 and Multisystemic Smooth Muscle Dysfunction Syndrome 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 ACTA2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to Multisystemic Smooth Muscle Dysfunction Syndrome  (DOID:9007900)
  • 16 papers in CRRD have been used to annotate Acta2
  • Curation Notes: ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome
  • Original References(s): PMID:19409525, PMID:25741868, PMID:28492532


  • An association has been curated linking Acta2 and Multisystemic Smooth Muscle Dysfunction Syndrome 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 ACTA2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to Multisystemic Smooth Muscle Dysfunction Syndrome  (DOID:9007900)
  • 16 papers in CRRD have been used to annotate Acta2
  • Curation Notes: ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome
  • Original References(s): PMID:29300374


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