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GENE - TERM ANNOTATION REPORT

11 Annotations Found.

An association has been curated linking SYNGAP1 and developmental and epileptic encephalopathy 11 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:13212958|RGD:8621338 (Homo sapiens) & RGD:13212958|RGD:8621338 (Homo sapiens)
  • 46 RGD objects have been annotated to developmental and epileptic encephalopathy 11  (DOID:0080421)
  • 6 papers in RGD have been used to annotate SYNGAP1
  • Curation Notes: ClinVar Annotator: match by term: Complex neurodevelopmental disorder
  • Original References(s): PMID:23161826 PMID:23708187 PMID:25741868 PMID:26989088 PMID:28492532 PMID:30541864


    • An association has been curated linking SYNGAP1 and developmental and epileptic encephalopathy 11 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:12906206|RGD:40887604 (Homo sapiens) & RGD:12906206|RGD:40887604 (Homo sapiens)
  • 46 RGD objects have been annotated to developmental and epileptic encephalopathy 11  (DOID:0080421)
  • 6 papers in RGD have been used to annotate SYNGAP1
  • Curation Notes: ClinVar Annotator: match by term: Complex neurodevelopmental disorder
  • Original References(s): PMID:28492532


    • An association has been curated linking SYNGAP1 and developmental and epileptic encephalopathy 11 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:12888171 (Homo sapiens)
  • 46 RGD objects have been annotated to developmental and epileptic encephalopathy 11  (DOID:0080421)
  • 6 papers in RGD have been used to annotate SYNGAP1
  • Curation Notes: ClinVar Annotator: match by term: Complex neurodevelopmental disorder
  • Original References(s): PMID:23161826 PMID:23708187 PMID:25326635 PMID:25741868 PMID:26989088 PMID:28492532


    • An association has been curated linking SYNGAP1 and developmental and epileptic encephalopathy 11 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:12742048 (Homo sapiens)
  • 46 RGD objects have been annotated to developmental and epileptic encephalopathy 11  (DOID:0080421)
  • 6 papers in RGD have been used to annotate SYNGAP1
  • Curation Notes: ClinVar Annotator: match by term: Complex neurodevelopmental disorder
  • Original References(s): PMID:23161826 PMID:23708187 PMID:25741868 PMID:26989088 PMID:28492532 PMID:28708303 PMID:30541864


    • An association has been curated linking SYNGAP1 and developmental and epileptic encephalopathy 11 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:11060069 (Homo sapiens)
  • 46 RGD objects have been annotated to developmental and epileptic encephalopathy 11  (DOID:0080421)
  • 6 papers in RGD have been used to annotate SYNGAP1
  • Curation Notes: ClinVar Annotator: match by term: Complex neurodevelopmental disorder
  • Original References(s): PMID:25326635 PMID:25741868 PMID:28492532 PMID:30541864 PMID:31395010 PMID:31440721 PMID:31572294 PMID:33308442 PMID:34948243 PMID:35814954 PMID:37149717


    • An association has been curated linking SYNGAP1 and developmental and epileptic encephalopathy 11 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:13517768|RGD:38464668|RGD:40886501|RGD:40887601 (Homo sapiens) & RGD:13517768|RGD:38464668|RGD:40886501|RGD:40887601 (Homo sapiens) & RGD:13517768|RGD:38464668|RGD:40886501|RGD:40887601 (Homo sapiens) & RGD:13517768|RGD:38464668|RGD:40886501|RGD:40887601 (Homo sapiens)
  • 46 RGD objects have been annotated to developmental and epileptic encephalopathy 11  (DOID:0080421)
  • 6 papers in RGD have been used to annotate SYNGAP1
  • Curation Notes: ClinVar Annotator: match by term: Complex neurodevelopmental disorder
  • Original References(s): PMID:25741868


    • An association has been curated linking SYNGAP1 and developmental and epileptic encephalopathy 11 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:40815187 (Homo sapiens)
  • 46 RGD objects have been annotated to developmental and epileptic encephalopathy 11  (DOID:0080421)
  • 6 papers in RGD have been used to annotate SYNGAP1
  • Curation Notes: ClinVar Annotator: match by term: Complex neurodevelopmental disorder
  • Original References(s): PMID:25741868 PMID:28492532 PMID:29778030 PMID:30541864


    • An association has been curated linking SYNGAP1 and developmental and epileptic encephalopathy 11 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:40887785|RGD:40887939|RGD:40887941 (Homo sapiens) & RGD:40887785|RGD:40887939|RGD:40887941 (Homo sapiens) & RGD:40887785|RGD:40887939|RGD:40887941 (Homo sapiens)
  • 46 RGD objects have been annotated to developmental and epileptic encephalopathy 11  (DOID:0080421)
  • 6 papers in RGD have been used to annotate SYNGAP1
  • Curation Notes: ClinVar Annotator: match by term: Complex neurodevelopmental disorder


    • An association has been curated linking SYNGAP1 and developmental and epileptic encephalopathy 11 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:8604632 (Homo sapiens)
  • 46 RGD objects have been annotated to developmental and epileptic encephalopathy 11  (DOID:0080421)
  • 6 papers in RGD have been used to annotate SYNGAP1
  • Curation Notes: ClinVar Annotator: match by term: Complex neurodevelopmental disorder
  • Original References(s): PMID:23161826 PMID:25741868 PMID:26989088 PMID:28492532


    • An association has been curated linking SYNGAP1 and developmental and epileptic encephalopathy 11 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:13617936 (Homo sapiens)
  • 46 RGD objects have been annotated to developmental and epileptic encephalopathy 11  (DOID:0080421)
  • 6 papers in RGD have been used to annotate SYNGAP1
  • Curation Notes: ClinVar Annotator: match by term: Complex neurodevelopmental disorder
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking SYNGAP1 and developmental and epileptic encephalopathy 11 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:13476220 (Homo sapiens)
  • 46 RGD objects have been annotated to developmental and epileptic encephalopathy 11  (DOID:0080421)
  • 6 papers in RGD have been used to annotate SYNGAP1
  • Curation Notes: ClinVar Annotator: match by term: Complex neurodevelopmental disorder
  • Original References(s): PMID:16199547 PMID:21237447 PMID:23161826 PMID:23708187 PMID:26989088 PMID:28492532


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