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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking RLBP1 and Alpers-Huttenlocher syndrome in Sus scrofa.        

  • 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 RLBP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to Alpers-Huttenlocher syndrome  (DOID:0080122)
  • 0 papers in RGD have been used to annotate RLBP1
  • Curation Notes: ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
  • Original References(s): PMID:11301032 PMID:21447491 PMID:2392416 PMID:25429852 PMID:28492532


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