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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Pkd1 and tuberous sclerosis 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 PKD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 183 RGD objects have been annotated to tuberous sclerosis  (DOID:13515)
  • 18 papers in RGD have been used to annotate Pkd1
  • Curation Notes: ClinVar Annotator: match by term: Tuberous sclerosis syndrome
  • Original References(s): PMID:10205261 PMID:10533067 PMID:10570911 PMID:11112665 PMID:11208653 PMID:12111193 PMID:12136241 PMID:14508401 PMID:15024740 PMID:15595939 PMID:15798777 PMID:16114042 PMID:16237225 PMID:16981987 PMID:17304050 PMID:18032745 PMID:20633017 PMID:21510812 PMID:22558107 PMID:22703879 PMID:22903760 PMID:24033266 PMID:24271014 PMID:24728327 PMID:25180276 PMID:25741868 PMID:25782670 PMID:26467025 PMID:26563443 PMID:27176796 PMID:28492532 PMID:28623545 PMID:28968464 PMID:29344138 PMID:32502382 PMID:32830346 PMID:8824881 PMID:9076719 PMID:9242607 PMID:9829910


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