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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking GMPPB and muscular dystrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11087837 (Homo sapiens)
  • 849 RGD objects have been annotated to muscular dystrophy  (DOID:9884)
  • 7 papers in RGD have been used to annotate GMPPB
  • Curation Notes: ClinVar Annotator: match by term: Muscular dystrophy
  • Original References(s): PMID:24033266 PMID:24780531 PMID:25741868 PMID:26133662 PMID:26310427 PMID:27147698 PMID:27527004 PMID:27766311 PMID:27874200 PMID:28478914 PMID:28492532 PMID:29437916 PMID:30060766 PMID:30684953


    • An association has been curated linking GMPPB and muscular dystrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8621301 (Homo sapiens)
  • 849 RGD objects have been annotated to muscular dystrophy  (DOID:9884)
  • 7 papers in RGD have been used to annotate GMPPB
  • Curation Notes: ClinVar Annotator: match by term: Muscular dystrophy
  • Original References(s): PMID:23768512 PMID:24033266 PMID:25681410 PMID:25741868 PMID:25770200 PMID:26133662 PMID:26310427 PMID:27147698 PMID:27766311 PMID:27874200 PMID:28478914 PMID:28492532 PMID:29437916 PMID:30257713 PMID:32115343 PMID:34106991 PMID:35006422


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