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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Hexb and Sandhoff Disease, Infantile Type 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 HEXB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Sandhoff Disease, Infantile Type  (DOID:9003926)
  • 15 papers in RGD have been used to annotate Hexb
  • Curation Notes: ClinVar Annotator: match by term: Sandhoff disease, infantile type
  • Original References(s): PMID:10982028 PMID:18758829 PMID:19823769 PMID:21483992 PMID:23010210 PMID:23046579 PMID:24613245 PMID:25741868 PMID:26582265 PMID:28492532 PMID:29448188 PMID:7550345 PMID:7633435 PMID:8045559 PMID:8162015 PMID:9888387


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