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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking SBF1 and metachromatic leukodystrophy 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:156441239 (Homo sapiens)
  • 50 RGD objects have been annotated to metachromatic leukodystrophy  (DOID:10581)
  • 5 papers in RGD have been used to annotate SBF1
  • Curation Notes: ClinVar Annotator: match by term: Metachromatic leukodystrophy
  • Original References(s): PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 PMID:8962139


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