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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking ACTA1 and Fetal akinesia sequence in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 94 RGD objects have been annotated to Fetal akinesia sequence  (HP:0001989)
  • 13 papers in RGD have been used to annotate ACTA1
  • Original References(s): ORPHA:171439


    • An association has been curated linking ACTA1 and Fetal akinesia sequence in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:401856032 (Homo sapiens)
  • 94 RGD objects have been annotated to Fetal akinesia sequence  (HP:0001989)
  • 13 papers in RGD have been used to annotate ACTA1
  • Curation Notes: ClinVar Annotator: match by term: Fetal akinesia
  • Original References(s): PMID:25741868 PMID:33060286


    • An association has been curated linking ACTA1 and Fetal akinesia sequence in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:15040413 (Homo sapiens)
  • 94 RGD objects have been annotated to Fetal akinesia sequence  (HP:0001989)
  • 13 papers in RGD have been used to annotate ACTA1
  • Curation Notes: ClinVar Annotator: match by term: Fetal akinesia sequence
  • Original References(s): PMID:19562689 PMID:25741868 PMID:28492532 PMID:31680123


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