Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2 		0.700 CausalMutation disease CLINVAR Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. 27457812 2017
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2 		0.700 CausalMutation disease CLINVAR De novo KCNA2 mutations cause hereditary spastic paraplegia. 28032718 2017
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2 		0.700 Biomarker disease 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 		0.700 CausalMutation disease CLINVAR Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. 27733563 2016
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2 		0.700 CausalMutation disease CLINVAR A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia. 27543892 2016
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2 		0.700 CausalMutation disease CLINVAR De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627 2015
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2 		0.700 CausalMutation disease CLINVAR 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 		0.700 GeneticVariation disease 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 		0.700 GeneticVariation disease UNIPROT De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627 2015
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2 		0.700 GeneticVariation disease CLINVAR
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2 		0.700 Biomarker disease CTD_human