Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6263
Gene Symbol: RYR3
RYR3
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.300 Biomarker GENOMICS_ENGLAND Novel West syndrome candidate genes in a Chinese cohort. 29667327

2018
Entrez Id: 6263
Gene Symbol: RYR3
RYR3
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.300 Biomarker GENOMICS_ENGLAND De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651

2014