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: C1865019
Disease: SHORT QT SYNDROME 2 (disorder)
SHORT QT SYNDROME 2 (disorder) 		0.720 Biomarker BEFREE To determine genotype-specific phenotypes in SQT1 (KCNH2), SQT2 (KCNQ1), and other subtypes SQT3-6, we analyzed clinical variables in 65 mutation-positive patients among all the 132 SQTS cases previously reported. 25974115

2015
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1865019
Disease: SHORT QT SYNDROME 2 (disorder)
SHORT QT SYNDROME 2 (disorder) 		0.720 Biomarker BEFREE A few families have been identified with specific genotypes: 3 with mutations in potassium channels called SQT1 (Iks), SQT2 (Ikr) and SQT3 (Ik1). 23677719

2013