Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 GeneticVariation UNIPROT Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 25982755

2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 GeneticVariation UNIPROT Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. 23360469

2013
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 GeneticVariation UNIPROT A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. 15249611

2004
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 Biomarker GENOMICS_ENGLAND Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. 12742592

2003
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 GeneticVariation UNIPROT KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. 14534157

2003
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 GeneticVariation UNIPROT Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. 11572947

2001
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 GeneticVariation UNIPROT Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor. 11175290

2000
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 GeneticVariation UNIPROT A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. 9425895

1998
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 Biomarker CTD_human