Disease: SHORT QT SYNDROME 2 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865019
Disease: SHORT QT SYNDROME 2 (disorder)
SHORT QT SYNDROME 2 (disorder) 		0.720 Biomarker disease GENOMICS_ENGLAND Emerging therapeutic targets in the short QT syndrome. 29697308 2018
CUI: C1865019
Disease: SHORT QT SYNDROME 2 (disorder)
SHORT QT SYNDROME 2 (disorder) 		0.720 Biomarker disease 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
CUI: C1865019
Disease: SHORT QT SYNDROME 2 (disorder)
SHORT QT SYNDROME 2 (disorder) 		0.720 Biomarker disease 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
CUI: C1865019
Disease: SHORT QT SYNDROME 2 (disorder)
SHORT QT SYNDROME 2 (disorder) 		0.720 GeneticVariation disease UNIPROT Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. 15159330 2004
CUI: C1865019
Disease: SHORT QT SYNDROME 2 (disorder)
SHORT QT SYNDROME 2 (disorder) 		0.720 Biomarker disease GENOMICS_ENGLAND Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. 8528244 1996
CUI: C1865019
Disease: SHORT QT SYNDROME 2 (disorder)
SHORT QT SYNDROME 2 (disorder) 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C1865019
Disease: SHORT QT SYNDROME 2 (disorder)
SHORT QT SYNDROME 2 (disorder) 		0.720 GeneticVariation disease CLINVAR
CUI: C1865019
Disease: SHORT QT SYNDROME 2 (disorder)
SHORT QT SYNDROME 2 (disorder) 		0.720 CausalMutation disease CLINVAR
CUI: C1865019
Disease: SHORT QT SYNDROME 2 (disorder)
SHORT QT SYNDROME 2 (disorder) 		0.720 Biomarker disease CTD_human