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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking GBE1 and Familial Cirrhosis with Deposition of Abnormal Glycogen in Pan paniscus.        

  • 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 GBE1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Familial Cirrhosis with Deposition of Abnormal Glycogen  (DOID:9007811)
  • 0 papers in RGD have been used to annotate GBE1
  • Curation Notes: ClinVar Annotator: match by term: Cirrhosis, familial, with deposition of abnormal glycogen
  • Original References(s): PMID:10384399 PMID:10762170 PMID:11949934 PMID:15019703 PMID:15452297 PMID:16199547 PMID:16528737 PMID:17576681 PMID:17662246 PMID:20058079 PMID:20301758 PMID:20655781 PMID:22106711 PMID:22305237 PMID:23034915 PMID:23607684 PMID:24082139 PMID:24248152 PMID:25133958 PMID:25356970 PMID:25665141 PMID:25741868 PMID:26147564 PMID:26166723 PMID:26199317 PMID:26385640 PMID:26886200 PMID:27243974 PMID:27546458 PMID:27747161 PMID:28265589 PMID:28492532 PMID:29379554 PMID:30228975 PMID:31589614 PMID:32455116 PMID:33060286 PMID:33141444 PMID:33332610 PMID:8059607 PMID:8247964 PMID:8613547 PMID:9536098 PMID:9851430


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