Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.300 Biomarker CTD_human De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0751123
Disease: Atonic Absence Seizures
Atonic Absence Seizures 		0.300 Biomarker CTD_human De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0751257
Disease: Auditory Processing Disorder, Central
Auditory Processing Disorder, Central 		0.300 Biomarker CTD_human De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0234535
Disease: Clonic Seizures
Clonic Seizures 		0.300 Biomarker CTD_human De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures 		0.300 Biomarker CTD_human De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4048158
Disease: Convulsions
Convulsions 		0.310 Biomarker CTD_human De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0751494
Disease: Convulsive Seizures
Convulsive Seizures 		0.300 Biomarker CTD_human De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia 		0.300 Biomarker CTD_human Decreased expression of voltage-gated K+ channels in pulmonary artery smooth muscles cells in nitrofen-induced congenital diaphragmatic hernia in rats. 15088113

2004
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		0.300 Biomarker CTD_human De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.460 Biomarker GENOMICS_ENGLAND

Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		0.700 Biomarker GENOMICS_ENGLAND A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia. 27543892

2016
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		0.700 Biomarker GENOMICS_ENGLAND A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia. 27543892

2016
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		0.700 GeneticVariation UNIPROT Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy. 25477152

2015
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		0.700 GeneticVariation UNIPROT De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		0.700 Biomarker CTD_human

Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures 		0.300 Biomarker CTD_human De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4505436
Disease: Generalized Absence Seizures
Generalized Absence Seizures 		0.300 Biomarker CTD_human De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0.300 Biomarker CTD_human De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0422854
Disease: Gustatory seizure
Gustatory seizure 		0.300 Biomarker CTD_human De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker CTD_human De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0022333
Disease: Jacksonian Seizure
Jacksonian Seizure 		0.300 Biomarker CTD_human De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0023012
Disease: Language Delay
Language Delay 		0.300 Biomarker CTD_human De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0023014
Disease: Language Development Disorders
Language Development Disorders 		0.300 Biomarker CTD_human De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		0.300 Biomarker CTD_human De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.300 Biomarker CTD_human De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015