Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking Gabrb2 and infantile or early childhood epileptic encephalopathy 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with GABRB2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 CRRD objects have been annotated to infantile or early childhood epileptic encephalopathy 2  (DOID:0080471)
  • 20 papers in CRRD have been used to annotate Gabrb2
  • Curation Notes: ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
  • Original References(s): PMID:27789573


  • An association has been curated linking Gabrb2 and infantile or early childhood epileptic encephalopathy 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with GABRB2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 CRRD objects have been annotated to infantile or early childhood epileptic encephalopathy 2  (DOID:0080471)
  • 20 papers in CRRD have been used to annotate Gabrb2
  • Curation Notes: ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
  • Original References(s): PMID:29100083


  • An association has been curated linking Gabrb2 and infantile or early childhood epileptic encephalopathy 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with GABRB2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 CRRD objects have been annotated to infantile or early childhood epileptic encephalopathy 2  (DOID:0080471)
  • 20 papers in CRRD have been used to annotate Gabrb2
  • Curation Notes: ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
  • Original References(s): PMID:25124326


  • An association has been curated linking Gabrb2 and infantile or early childhood epileptic encephalopathy 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with GABRB2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 CRRD objects have been annotated to infantile or early childhood epileptic encephalopathy 2  (DOID:0080471)
  • 20 papers in CRRD have been used to annotate Gabrb2
  • Curation Notes: ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
  • Original References(s): PMID:25741868


  • An association has been curated linking Gabrb2 and infantile or early childhood epileptic encephalopathy 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with GABRB2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 CRRD objects have been annotated to infantile or early childhood epileptic encephalopathy 2  (DOID:0080471)
  • 20 papers in CRRD have been used to annotate Gabrb2


  • An association has been curated linking Gabrb2 and infantile or early childhood epileptic encephalopathy 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with GABRB2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 CRRD objects have been annotated to infantile or early childhood epileptic encephalopathy 2  (DOID:0080471)
  • 20 papers in CRRD have been used to annotate Gabrb2
  • Curation Notes: ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood 2
  • Original References(s): PMID:25741868, PMID:28492532


  • Go Back to source page   Continue to Ontology report



    NHLBI Logo

    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.