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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Bltp1 and Alkuraya-Kucinskas 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 BLTP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Alkuraya-Kucinskas syndrome  (DOID:0111555)
  • 3 papers in RGD have been used to annotate Bltp1


    • An association has been curated linking Bltp1 and Alkuraya-Kucinskas 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 BLTP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Alkuraya-Kucinskas syndrome  (DOID:0111555)
  • 3 papers in RGD have been used to annotate Bltp1
  • Curation Notes: ClinVar Annotator: match by term: Alkuraya-Kucinskas syndrome | ClinVar Annotator: match by term: BLTP1-related condition
  • Original References(s): PMID:25558065 PMID:25741868 PMID:28492532 PMID:29290337


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