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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking PIGS and developmental and epileptic encephalopathy 95 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:13802084 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 95  (DOID:0070382)
  • 3 papers in RGD have been used to annotate PIGS
  • Curation Notes: ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 18
  • Original References(s): PMID:30269814


    • An association has been curated linking PIGS and developmental and epileptic encephalopathy 95 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 95  (DOID:0070382)
  • 3 papers in RGD have been used to annotate PIGS


    • An association has been curated linking PIGS and developmental and epileptic encephalopathy 95 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:126728229|RGD:126740951|RGD:126740956|RGD:405690646 (Homo sapiens) & RGD:126728229|RGD:126740951|RGD:126740956|RGD:405690646 (Homo sapiens) & RGD:126728229|RGD:126740951|RGD:126740956|RGD:405690646 (Homo sapiens) & RGD:126728229|RGD:126740951|RGD:126740956|RGD:405690646 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 95  (DOID:0070382)
  • 3 papers in RGD have been used to annotate PIGS
  • Curation Notes: ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 18
  • Original References(s): PMID:25741868


    • An association has been curated linking PIGS and developmental and epileptic encephalopathy 95 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:13802079|RGD:13802081|RGD:13802082 (Homo sapiens) & RGD:13802079|RGD:13802081|RGD:13802082 (Homo sapiens) & RGD:13802079|RGD:13802081|RGD:13802082 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 95  (DOID:0070382)
  • 3 papers in RGD have been used to annotate PIGS
  • Curation Notes: ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 18
  • Original References(s): PMID:25741868 PMID:30269814


    • An association has been curated linking PIGS and developmental and epileptic encephalopathy 95 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:127284550|RGD:127284551|RGD:127284552|RGD:127284553|RGD:127284554 (Homo sapiens) & RGD:127284550|RGD:127284551|RGD:127284552|RGD:127284553|RGD:127284554 (Homo sapiens) & RGD:127284550|RGD:127284551|RGD:127284552|RGD:127284553|RGD:127284554 (Homo sapiens) & RGD:127284550|RGD:127284551|RGD:127284552|RGD:127284553|RGD:127284554 (Homo sapiens) & RGD:127284550|RGD:127284551|RGD:127284552|RGD:127284553|RGD:127284554 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 95  (DOID:0070382)
  • 3 papers in RGD have been used to annotate PIGS
  • Curation Notes: ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 18
  • Original References(s): PMID:33410539


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