Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Benign Rolandic Epilepsy
CUI: C2363129
Disease: Benign Rolandic Epilepsy
0.700 CausalMutation CLINVAR KCNQ2 abnormality in BECTS: benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2. 22884718 2012
Benign Rolandic Epilepsy
CUI: C2363129
Disease: Benign Rolandic Epilepsy
0.700 CausalMutation CLINVAR A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions. 18640800 2009