Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0036572
Disease: Seizures
Seizures 		0.130 Biomarker BEFREE In flurothyl-induced seizure tests, KCNQ activation decreased seizure latency by ≥50% in Kcnq1 strain mice but had no effect in the Kcna1 strain, suggesting the influence of genetic background. 29265344

2018
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0036572
Disease: Seizures
Seizures 		0.130 GeneticVariation BEFREE We identified compound heterozygous mutations in KCNQ1 in a 5-yr-old child with JLNS, who visited the hospital due to recurrent syncope and seizures and had congenital sensorineural deafness. 20890437

2010
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0036572
Disease: Seizures
Seizures 		0.130 GeneticVariation BEFREE A seizure phenotype was more common in LQT2 (36/77, 47%) than LQT1 (16/72, 22%, p < 0.002) and LQT3 (7/28, 25%, p < 0.05, NS). 19038855

2009