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GENE - TERM ANNOTATION REPORT

9 Annotations Found.

An association has been curated linking GABRA2 and developmental and epileptic encephalopathy 78 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 78  (DOID:0112214)
  • 7 papers in RGD have been used to annotate GABRA2
  • Qualifier: susceptibility


    • An association has been curated linking GABRA2 and developmental and epileptic encephalopathy 78 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:14393423 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 78  (DOID:0112214)
  • 7 papers in RGD have been used to annotate GABRA2
  • Curation Notes: ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78
  • Original References(s): PMID:25741868 PMID:29422393


    • An association has been curated linking GABRA2 and developmental and epileptic encephalopathy 78 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:151663420 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 78  (DOID:0112214)
  • 7 papers in RGD have been used to annotate GABRA2
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 78
  • Original References(s): PMID:28492532


    • An association has been curated linking GABRA2 and developmental and epileptic encephalopathy 78 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:127309740|RGD:127309746|RGD:151749926|RGD:152032022|RGD:152098929|RGD:152109895|RGD:156011907|RGD:156021283|RGD:156346062|RGD:156406327|RGD:243052091|RGD:38598165|RGD:401918623|RGD:405205953 (Homo sapiens) & RGD:127309740|RGD:127309746|RGD:151749926|RGD:152032022|RGD:152098929|RGD:152109895|RGD:156011907|RGD:156021283|RGD:156346062|RGD:156406327|RGD:243052091|RGD:38598165|RGD:401918623|RGD:405205953 (Homo sapiens) & RGD:127309740|RGD:127309746|RGD:151749926|RGD:152032022|RGD:152098929|RGD:152109895|RGD:156011907|RGD:156021283|RGD:156346062|RGD:156406327|RGD:243052091|RGD:38598165|RGD:401918623|RGD:405205953 (Homo sapiens) & RGD:127309740|RGD:127309746|RGD:151749926|RGD:152032022|RGD:152098929|RGD:152109895|RGD:156011907|RGD:156021283|RGD:156346062|RGD:156406327|RGD:243052091|RGD:38598165|RGD:401918623|RGD:405205953 (Homo sapiens) & RGD:127309740|RGD:127309746|RGD:151749926|RGD:152032022|RGD:152098929|RGD:152109895|RGD:156011907|RGD:156021283|RGD:156346062|RGD:156406327|RGD:243052091|RGD:38598165|RGD:401918623|RGD:405205953 (Homo sapiens) & RGD:127309740|RGD:127309746|RGD:151749926|RGD:152032022|RGD:152098929|RGD:152109895|RGD:156011907|RGD:156021283|RGD:156346062|RGD:156406327|RGD:243052091|RGD:38598165|RGD:401918623|RGD:405205953 (Homo sapiens) & RGD:127309740|RGD:127309746|RGD:151749926|RGD:152032022|RGD:152098929|RGD:152109895|RGD:156011907|RGD:156021283|RGD:156346062|RGD:156406327|RGD:243052091|RGD:38598165|RGD:401918623|RGD:405205953 (Homo sapiens) & RGD:127309740|RGD:127309746|RGD:151749926|RGD:152032022|RGD:152098929|RGD:152109895|RGD:156011907|RGD:156021283|RGD:156346062|RGD:156406327|RGD:243052091|RGD:38598165|RGD:401918623|RGD:405205953 (Homo sapiens) & RGD:127309740|RGD:127309746|RGD:151749926|RGD:152032022|RGD:152098929|RGD:152109895|RGD:156011907|RGD:156021283|RGD:156346062|RGD:156406327|RGD:243052091|RGD:38598165|RGD:401918623|RGD:405205953 (Homo sapiens) & RGD:127309740|RGD:127309746|RGD:151749926|RGD:152032022|RGD:152098929|RGD:152109895|RGD:156011907|RGD:156021283|RGD:156346062|RGD:156406327|RGD:243052091|RGD:38598165|RGD:401918623|RGD:405205953 (Homo sapiens) & RGD:127309740|RGD:127309746|RGD:151749926|RGD:152032022|RGD:152098929|RGD:152109895|RGD:156011907|RGD:156021283|RGD:156346062|RGD:156406327|RGD:243052091|RGD:38598165|RGD:401918623|RGD:405205953 (Homo sapiens) & RGD:127309740|RGD:127309746|RGD:151749926|RGD:152032022|RGD:152098929|RGD:152109895|RGD:156011907|RGD:156021283|RGD:156346062|RGD:156406327|RGD:243052091|RGD:38598165|RGD:401918623|RGD:405205953 (Homo sapiens) & RGD:127309740|RGD:127309746|RGD:151749926|RGD:152032022|RGD:152098929|RGD:152109895|RGD:156011907|RGD:156021283|RGD:156346062|RGD:156406327|RGD:243052091|RGD:38598165|RGD:401918623|RGD:405205953 (Homo sapiens) & RGD:127309740|RGD:127309746|RGD:151749926|RGD:152032022|RGD:152098929|RGD:152109895|RGD:156011907|RGD:156021283|RGD:156346062|RGD:156406327|RGD:243052091|RGD:38598165|RGD:401918623|RGD:405205953 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 78  (DOID:0112214)
  • 7 papers in RGD have been used to annotate GABRA2
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 78 | ClinVar Annotator: match by term: GABRA2-related condition
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking GABRA2 and developmental and epileptic encephalopathy 78 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:401726658 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 78  (DOID:0112214)
  • 7 papers in RGD have been used to annotate GABRA2
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 78
  • Original References(s): PMID:29758562


    • An association has been curated linking GABRA2 and developmental and epileptic encephalopathy 78 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:152983004|RGD:155643047|RGD:243059745 (Homo sapiens) & RGD:152983004|RGD:155643047|RGD:243059745 (Homo sapiens) & RGD:152983004|RGD:155643047|RGD:243059745 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 78  (DOID:0112214)
  • 7 papers in RGD have been used to annotate GABRA2
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 78
  • Original References(s): PMID:25741868


    • An association has been curated linking GABRA2 and developmental and epileptic encephalopathy 78 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:150545641|RGD:152078499|RGD:38598892 (Homo sapiens) & RGD:150545641|RGD:152078499|RGD:38598892 (Homo sapiens) & RGD:150545641|RGD:152078499|RGD:38598892 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 78  (DOID:0112214)
  • 7 papers in RGD have been used to annotate GABRA2
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 78


    • An association has been curated linking GABRA2 and developmental and epileptic encephalopathy 78 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:14976031 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 78  (DOID:0112214)
  • 7 papers in RGD have been used to annotate GABRA2
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 78
  • Original References(s): PMID:28492532 PMID:29961870


    • An association has been curated linking GABRA2 and developmental and epileptic encephalopathy 78 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:14976032|RGD:14976033|RGD:14976034 (Homo sapiens) & RGD:14976032|RGD:14976033|RGD:14976034 (Homo sapiens) & RGD:14976032|RGD:14976033|RGD:14976034 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 78  (DOID:0112214)
  • 7 papers in RGD have been used to annotate GABRA2
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 78
  • Original References(s): PMID:31032849


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