Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C2363129
Disease: Benign Rolandic Epilepsy
Benign Rolandic Epilepsy 		0.120 CausalMutation CLINVAR KCNQ2 abnormality in BECTS: benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2. 22884718

2012
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C2363129
Disease: Benign Rolandic Epilepsy
Benign Rolandic Epilepsy 		0.120 CausalMutation CLINVAR A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions. 18640800

2009
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C2363129
Disease: Benign Rolandic Epilepsy
Benign Rolandic Epilepsy 		0.120 CausalMutation CLINVAR KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. 18625963

2008