Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9568
Gene Symbol: GABBR2
GABBR2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.410 Biomarker GENOMICS_ENGLAND "Reply to ""a novel mutation in the transmembrane 6 domain of GABBR2 leads to a rett-like phenotype""." 29377213

2018
Entrez Id: 9568
Gene Symbol: GABBR2
GABBR2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.410 Biomarker GENOMICS_ENGLAND GABBR2 is a genetic factor that determines RTT- or EE-like phenotype expression depending on the variant positions. 28856709

2017
Entrez Id: 9568
Gene Symbol: GABBR2
GABBR2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.410 Biomarker GENOMICS_ENGLAND De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651

2014