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GENE - TERM ANNOTATION REPORT

18 Annotations Found.

An association has been curated linking GABRB3 and developmental and epileptic encephalopathy 43 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 43  (DOID:0080447)
  • 8 papers in RGD have been used to annotate GABRB3
  • Qualifier: susceptibility


    • An association has been curated linking GABRB3 and developmental and epileptic encephalopathy 43 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:8565485 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 43  (DOID:0080447)
  • 8 papers in RGD have been used to annotate GABRB3
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 43
  • Original References(s): PMID:11742254 PMID:12189488 PMID:25741868 PMID:28492532


    • An association has been curated linking GABRB3 and developmental and epileptic encephalopathy 43 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:26900892 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 43  (DOID:0080447)
  • 8 papers in RGD have been used to annotate GABRB3
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 43
  • Original References(s): PMID:23934111 PMID:25741868 PMID:28053010 PMID:28492532


    • An association has been curated linking GABRB3 and developmental and epileptic encephalopathy 43 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:156048701 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 43  (DOID:0080447)
  • 8 papers in RGD have been used to annotate GABRB3
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 43
  • Original References(s): PMID:25741868 PMID:28492532 PMID:33287870


    • An association has been curated linking GABRB3 and developmental and epileptic encephalopathy 43 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:13478596 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 43  (DOID:0080447)
  • 8 papers in RGD have been used to annotate GABRB3
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 43
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking GABRB3 and developmental and epileptic encephalopathy 43 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:155682526 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 43  (DOID:0080447)
  • 8 papers in RGD have been used to annotate GABRB3
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 43
  • Original References(s): PMID:26950270 PMID:28053010 PMID:28492532 PMID:33585817


    • An association has been curated linking GABRB3 and developmental and epileptic encephalopathy 43 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:126761443 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 43  (DOID:0080447)
  • 8 papers in RGD have been used to annotate GABRB3
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 43
  • Original References(s): PMID:25741868 PMID:28492532 PMID:34782754


    • An association has been curated linking GABRB3 and developmental and epileptic encephalopathy 43 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:14707197 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 43  (DOID:0080447)
  • 8 papers in RGD have been used to annotate GABRB3
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 43
  • Original References(s): PMID:25741868 PMID:28053010 PMID:28492532 PMID:33585817


    • An association has been curated linking GABRB3 and developmental and epileptic encephalopathy 43 in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 43  (DOID:0080447)
  • 8 papers in RGD have been used to annotate GABRB3
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking GABRB3 and developmental and epileptic encephalopathy 43 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:11542157 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 43  (DOID:0080447)
  • 8 papers in RGD have been used to annotate GABRB3
  • Curation Notes: ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 43
  • Original References(s): PMID:23934111 PMID:25741868 PMID:26950270 PMID:27476654 PMID:28492532


    • An association has been curated linking GABRB3 and developmental and epileptic encephalopathy 43 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:151842102 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 43  (DOID:0080447)
  • 8 papers in RGD have been used to annotate GABRB3
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 43
  • Original References(s): PMID:26645412 PMID:26993267 PMID:28492532


    • An association has been curated linking GABRB3 and developmental and epileptic encephalopathy 43 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:11544267|RGD:127322538|RGD:12882042|RGD:13618523|RGD:13786174|RGD:156290756|RGD:40815524 (Homo sapiens) & RGD:11544267|RGD:127322538|RGD:12882042|RGD:13618523|RGD:13786174|RGD:156290756|RGD:40815524 (Homo sapiens) & RGD:11544267|RGD:127322538|RGD:12882042|RGD:13618523|RGD:13786174|RGD:156290756|RGD:40815524 (Homo sapiens) & RGD:11544267|RGD:127322538|RGD:12882042|RGD:13618523|RGD:13786174|RGD:156290756|RGD:40815524 (Homo sapiens) & RGD:11544267|RGD:127322538|RGD:12882042|RGD:13618523|RGD:13786174|RGD:156290756|RGD:40815524 (Homo sapiens) & RGD:11544267|RGD:127322538|RGD:12882042|RGD:13618523|RGD:13786174|RGD:156290756|RGD:40815524 (Homo sapiens) & RGD:11544267|RGD:127322538|RGD:12882042|RGD:13618523|RGD:13786174|RGD:156290756|RGD:40815524 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 43  (DOID:0080447)
  • 8 papers in RGD have been used to annotate GABRB3
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 43 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 43
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking GABRB3 and developmental and epileptic encephalopathy 43 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:8565486 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 43  (DOID:0080447)
  • 8 papers in RGD have been used to annotate GABRB3
  • Curation Notes: ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 43
  • Original References(s): PMID:18514161 PMID:19935738 PMID:20550555 PMID:25726841 PMID:25741868 PMID:26467025 PMID:26845707 PMID:26950270 PMID:28492532


    • An association has been curated linking GABRB3 and developmental and epileptic encephalopathy 43 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:150406854 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 43  (DOID:0080447)
  • 8 papers in RGD have been used to annotate GABRB3
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 43
  • Original References(s): PMID:25741868 PMID:27622563 PMID:28492532


    • An association has been curated linking GABRB3 and developmental and epileptic encephalopathy 43 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:126740328|RGD:126740335|RGD:12895354|RGD:13704889|RGD:150540590|RGD:150557075|RGD:152981433|RGD:153000719|RGD:155643476|RGD:155800162|RGD:243052105|RGD:26903034|RGD:329848873|RGD:329953316|RGD:38464467|RGD:38466156|RGD:38597721|RGD:40815525 (Homo sapiens) & RGD:126740328|RGD:126740335|RGD:12895354|RGD:13704889|RGD:150540590|RGD:150557075|RGD:152981433|RGD:153000719|RGD:155643476|RGD:155800162|RGD:243052105|RGD:26903034|RGD:329848873|RGD:329953316|RGD:38464467|RGD:38466156|RGD:38597721|RGD:40815525 (Homo sapiens) & RGD:126740328|RGD:126740335|RGD:12895354|RGD:13704889|RGD:150540590|RGD:150557075|RGD:152981433|RGD:153000719|RGD:155643476|RGD:155800162|RGD:243052105|RGD:26903034|RGD:329848873|RGD:329953316|RGD:38464467|RGD:38466156|RGD:38597721|RGD:40815525 (Homo sapiens) & RGD:126740328|RGD:126740335|RGD:12895354|RGD:13704889|RGD:150540590|RGD:150557075|RGD:152981433|RGD:153000719|RGD:155643476|RGD:155800162|RGD:243052105|RGD:26903034|RGD:329848873|RGD:329953316|RGD:38464467|RGD:38466156|RGD:38597721|RGD:40815525 (Homo sapiens) & RGD:126740328|RGD:126740335|RGD:12895354|RGD:13704889|RGD:150540590|RGD:150557075|RGD:152981433|RGD:153000719|RGD:155643476|RGD:155800162|RGD:243052105|RGD:26903034|RGD:329848873|RGD:329953316|RGD:38464467|RGD:38466156|RGD:38597721|RGD:40815525 (Homo sapiens) & RGD:126740328|RGD:126740335|RGD:12895354|RGD:13704889|RGD:150540590|RGD:150557075|RGD:152981433|RGD:153000719|RGD:155643476|RGD:155800162|RGD:243052105|RGD:26903034|RGD:329848873|RGD:329953316|RGD:38464467|RGD:38466156|RGD:38597721|RGD:40815525 (Homo sapiens) & RGD:126740328|RGD:126740335|RGD:12895354|RGD:13704889|RGD:150540590|RGD:150557075|RGD:152981433|RGD:153000719|RGD:155643476|RGD:155800162|RGD:243052105|RGD:26903034|RGD:329848873|RGD:329953316|RGD:38464467|RGD:38466156|RGD:38597721|RGD:40815525 (Homo sapiens) & RGD:126740328|RGD:126740335|RGD:12895354|RGD:13704889|RGD:150540590|RGD:150557075|RGD:152981433|RGD:153000719|RGD:155643476|RGD:155800162|RGD:243052105|RGD:26903034|RGD:329848873|RGD:329953316|RGD:38464467|RGD:38466156|RGD:38597721|RGD:40815525 (Homo sapiens) & RGD:126740328|RGD:126740335|RGD:12895354|RGD:13704889|RGD:150540590|RGD:150557075|RGD:152981433|RGD:153000719|RGD:155643476|RGD:155800162|RGD:243052105|RGD:26903034|RGD:329848873|RGD:329953316|RGD:38464467|RGD:38466156|RGD:38597721|RGD:40815525 (Homo sapiens) & RGD:126740328|RGD:126740335|RGD:12895354|RGD:13704889|RGD:150540590|RGD:150557075|RGD:152981433|RGD:153000719|RGD:155643476|RGD:155800162|RGD:243052105|RGD:26903034|RGD:329848873|RGD:329953316|RGD:38464467|RGD:38466156|RGD:38597721|RGD:40815525 (Homo sapiens) & RGD:126740328|RGD:126740335|RGD:12895354|RGD:13704889|RGD:150540590|RGD:150557075|RGD:152981433|RGD:153000719|RGD:155643476|RGD:155800162|RGD:243052105|RGD:26903034|RGD:329848873|RGD:329953316|RGD:38464467|RGD:38466156|RGD:38597721|RGD:40815525 (Homo sapiens) & RGD:126740328|RGD:126740335|RGD:12895354|RGD:13704889|RGD:150540590|RGD:150557075|RGD:152981433|RGD:153000719|RGD:155643476|RGD:155800162|RGD:243052105|RGD:26903034|RGD:329848873|RGD:329953316|RGD:38464467|RGD:38466156|RGD:38597721|RGD:40815525 (Homo sapiens) & RGD:126740328|RGD:126740335|RGD:12895354|RGD:13704889|RGD:150540590|RGD:150557075|RGD:152981433|RGD:153000719|RGD:155643476|RGD:155800162|RGD:243052105|RGD:26903034|RGD:329848873|RGD:329953316|RGD:38464467|RGD:38466156|RGD:38597721|RGD:40815525 (Homo sapiens) & RGD:126740328|RGD:126740335|RGD:12895354|RGD:13704889|RGD:150540590|RGD:150557075|RGD:152981433|RGD:153000719|RGD:155643476|RGD:155800162|RGD:243052105|RGD:26903034|RGD:329848873|RGD:329953316|RGD:38464467|RGD:38466156|RGD:38597721|RGD:40815525 (Homo sapiens) & RGD:126740328|RGD:126740335|RGD:12895354|RGD:13704889|RGD:150540590|RGD:150557075|RGD:152981433|RGD:153000719|RGD:155643476|RGD:155800162|RGD:243052105|RGD:26903034|RGD:329848873|RGD:329953316|RGD:38464467|RGD:38466156|RGD:38597721|RGD:40815525 (Homo sapiens) & RGD:126740328|RGD:126740335|RGD:12895354|RGD:13704889|RGD:150540590|RGD:150557075|RGD:152981433|RGD:153000719|RGD:155643476|RGD:155800162|RGD:243052105|RGD:26903034|RGD:329848873|RGD:329953316|RGD:38464467|RGD:38466156|RGD:38597721|RGD:40815525 (Homo sapiens) & RGD:126740328|RGD:126740335|RGD:12895354|RGD:13704889|RGD:150540590|RGD:150557075|RGD:152981433|RGD:153000719|RGD:155643476|RGD:155800162|RGD:243052105|RGD:26903034|RGD:329848873|RGD:329953316|RGD:38464467|RGD:38466156|RGD:38597721|RGD:40815525 (Homo sapiens) & RGD:126740328|RGD:126740335|RGD:12895354|RGD:13704889|RGD:150540590|RGD:150557075|RGD:152981433|RGD:153000719|RGD:155643476|RGD:155800162|RGD:243052105|RGD:26903034|RGD:329848873|RGD:329953316|RGD:38464467|RGD:38466156|RGD:38597721|RGD:40815525 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 43  (DOID:0080447)
  • 8 papers in RGD have been used to annotate GABRB3
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 43
  • Original References(s): PMID:25741868


    • An association has been curated linking GABRB3 and developmental and epileptic encephalopathy 43 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:14707251|RGD:21404284 (Homo sapiens) & RGD:14707251|RGD:21404284 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 43  (DOID:0080447)
  • 8 papers in RGD have been used to annotate GABRB3
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 43
  • Original References(s): PMID:25741868 PMID:26950270 PMID:28053010 PMID:28492532


    • An association has been curated linking GABRB3 and developmental and epileptic encephalopathy 43 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:151233791|RGD:40886383 (Homo sapiens) & RGD:151233791|RGD:40886383 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 43  (DOID:0080447)
  • 8 papers in RGD have been used to annotate GABRB3
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 43


    • An association has been curated linking GABRB3 and developmental and epileptic encephalopathy 43 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:11542152|RGD:11542155|RGD:11542158 (Homo sapiens) & RGD:11542152|RGD:11542155|RGD:11542158 (Homo sapiens) & RGD:11542152|RGD:11542155|RGD:11542158 (Homo sapiens)
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 43  (DOID:0080447)
  • 8 papers in RGD have been used to annotate GABRB3
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 43
  • Original References(s): PMID:23934111


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