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: 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: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.460 Biomarker GENOMICS_ENGLAND

Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0036572
Disease: Seizures
Seizures 		0.430 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: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		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: 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: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		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: 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: 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
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: 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: 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: C0241210
Disease: Speech Delay
Speech 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: C0270824
Disease: Visual seizure
Visual 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: C0270844
Disease: Tonic Seizures
Tonic 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: 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: C0422850
Disease: Seizures, Somatosensory
Seizures, Somatosensory 		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: C0422852
Disease: Seizures, Auditory
Seizures, Auditory 		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: C0422853
Disease: Olfactory seizure
Olfactory seizure 		0.300 Biomarker CTD_human De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015