CLCN2, chloride voltage-gated channel 2, 1181

N. diseases: 67; N. variants: 30
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750893
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11 		0.600 Biomarker disease GENOMICS_ENGLAND Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. 23707145 2013
CUI: C2750893
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11 		0.600 Biomarker disease GENOMICS_ENGLAND CLCN2 variants in idiopathic generalized epilepsy. 19710712 2009
CUI: C2750893
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11 		0.600 GeneticVariation disease UNIPROT CLCN2 variants in idiopathic generalized epilepsy. 19710712 2009
CUI: C2750893
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11 		0.600 GeneticVariation disease UNIPROT Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. 19191339 2009
CUI: C2750893
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11 		0.600 Biomarker disease GENOMICS_ENGLAND Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. 19191339 2009
CUI: C2750893
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11 		0.600 Biomarker disease GENOMICS_ENGLAND Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. 19191339 2009
CUI: C2750893
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11 		0.600 SusceptibilityMutation disease CLINVAR