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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Actn1 and platelet-type bleeding disorder 15 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 ACTN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to platelet-type bleeding disorder 15  (DOID:0111053)
  • 25 papers in RGD have been used to annotate Actn1


  • An association has been curated linking Actn1 and platelet-type bleeding disorder 15 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 ACTN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to platelet-type bleeding disorder 15  (DOID:0111053)
  • 25 papers in RGD have been used to annotate Actn1
  • Curation Notes: ClinVar Annotator: match by term: ACTN1-related condition | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15
  • Original References(s): PMID:17576681 PMID:23434115 PMID:24069336 PMID:25361813 PMID:25741868 PMID:25949529 PMID:26312134 PMID:26453073 PMID:26879394 PMID:27348543 PMID:28492532 PMID:28562514 PMID:28856919 PMID:30351444 PMID:31064749 PMID:31237726 PMID:31365757 PMID:32478077 PMID:32581362 PMID:32757236 PMID:34355501 PMID:38158197 PMID:9536098


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