Send us a Message



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

GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Gabrb3 and Childhood Absence Epilepsy 1 in Mus musculus.        

  • 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 GABRB3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to Childhood Absence Epilepsy 1   (DOID:9009060)
  • 12 papers in RGD have been used to annotate Gabrb3
  • Curation Notes: ClinVar Annotator: match by term: Epilepsy, childhood absence 1 | ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1
  • Original References(s): PMID:11198279 PMID:11742254 PMID:12189488 PMID:16199547 PMID:17576681 PMID:18514161 PMID:19935738 PMID:20550555 PMID:22303015 PMID:23495136 PMID:23934111 PMID:24909990 PMID:24999380 PMID:25533962 PMID:25726841 PMID:25741868 PMID:25741909 PMID:25849321 PMID:26068938 PMID:26467025 PMID:26645412 PMID:26704558 PMID:26845707 PMID:26950270 PMID:26993267 PMID:27476654 PMID:27622563 PMID:27864847 PMID:28053010 PMID:2828157 PMID:28281572 PMID:28492532 PMID:28544625 PMID:28607477 PMID:29162865 PMID:29852413 PMID:29961870 PMID:30185235 PMID:30728247 PMID:31164858 PMID:31435640 PMID:33287870 PMID:33585817 PMID:34120799 PMID:34698933 PMID:34782754 PMID:34906499 PMID:35383156 PMID:35718920 PMID:8382702 PMID:9536098


  • Go Back to source page   Continue to Ontology report