RYR3, ryanodine receptor 3, 6263

N. diseases: 40; N. variants: 9
Disease: Epileptic encephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.300 Biomarker disease GENOMICS_ENGLAND Novel West syndrome candidate genes in a Chinese cohort. 29667327 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.300 Biomarker disease GENOMICS_ENGLAND De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651 2014