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: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.100 CausalMutation CLINVAR Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy. 27779742

2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.100 CausalMutation CLINVAR Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits. 25740509

2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.100 CausalMutation CLINVAR Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 25982755

2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.100 CausalMutation CLINVAR Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. 25473036

2014
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.100 CausalMutation CLINVAR Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2. 23692823

2013
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.100 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.100 CausalMutation CLINVAR Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction. 14985406

2004
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.100 GeneticVariation CLINVAR KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. 14534157

2003