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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Npc1 and Niemann-Pick disease type B 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 NPC1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to Niemann-Pick disease type B  (DOID:0070112)
  • 8 papers in RGD have been used to annotate Npc1
  • Curation Notes: ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
  • Original References(s): PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 PMID:12401890 PMID:12955717 PMID:14639697 PMID:16098014 PMID:16126423 PMID:18216017 PMID:19744920 PMID:20301473 PMID:20521171 PMID:21436030 PMID:22505584 PMID:23430855 PMID:24928400 PMID:25149939 PMID:25236789 PMID:25590979 PMID:25637190 PMID:25741868 PMID:25873482 PMID:26019327 PMID:26666848 PMID:27139891 PMID:27923633 PMID:28413817 PMID:28492532 PMID:28710748 PMID:28776642 PMID:28865947 PMID:29476731 PMID:29631617 PMID:30487145 PMID:30556376 PMID:30665703 PMID:31589614 PMID:31639011 PMID:31980526 PMID:32138288 PMID:33027564 PMID:33099109 PMID:36007526


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