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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Hexa and Tay-Sachs Disease, Variant B1 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 HEXA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Tay-Sachs Disease, Variant B1  (DOID:9003240)
  • 13 papers in RGD have been used to annotate Hexa
  • Curation Notes: ClinVar Annotator: match by term: Tay-Sachs disease, B1 variant
  • Original References(s): PMID:10584247 PMID:1302612 PMID:1318511 PMID:14577003 PMID:16088929 PMID:17015493 PMID:1831451 PMID:1832817 PMID:1833974 PMID:18490185 PMID:20100466 PMID:20301350 PMID:2137287 PMID:22441121 PMID:22789865 PMID:23359698 PMID:24088041 PMID:24953648 PMID:25041270 PMID:2521932 PMID:25741868 PMID:25741876 PMID:27896118 PMID:28359061 PMID:28492532 PMID:2961848 PMID:2973311 PMID:30506202 PMID:31367523 PMID:34288098 PMID:7551830 PMID:8081943 PMID:8111418 PMID:8730294 PMID:9272736


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