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: C1852581
Disease: EPILEPSY, BENIGN NEONATAL, 2
EPILEPSY, BENIGN NEONATAL, 2 		0.200 CausalMutation CLINVAR Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes. 19464834

2009
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C1852581
Disease: EPILEPSY, BENIGN NEONATAL, 2
EPILEPSY, BENIGN NEONATAL, 2 		0.200 CausalMutation CLINVAR KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. 18625963

2008
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C1852581
Disease: EPILEPSY, BENIGN NEONATAL, 2
EPILEPSY, BENIGN NEONATAL, 2 		0.200 CausalMutation CLINVAR Benign familial neonatal convulsions: always benign? 17129708

2007
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C1852581
Disease: EPILEPSY, BENIGN NEONATAL, 2
EPILEPSY, BENIGN NEONATAL, 2 		0.200 CausalMutation CLINVAR A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. 15249611

2004
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C1852581
Disease: EPILEPSY, BENIGN NEONATAL, 2
EPILEPSY, BENIGN NEONATAL, 2 		0.200 CausalMutation CLINVAR Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. 12742592

2003