Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4477077
Disease: Abnormal cardiac exercise stress test
Abnormal cardiac exercise stress test 		0.100 Biomarker phenotype HPO
CUI: C1839341
Disease: Abnormal T-wave
Abnormal T-wave 		0.100 Biomarker phenotype HPO
CUI: C4025797
Disease: Abnormality of prenatal development or birth
Abnormality of prenatal development or birth 		0.100 Biomarker disease HPO
CUI: C4021637
Disease: Abnormality of the nares
Abnormality of the nares 		0.100 GeneticVariation disease CLINVAR
CUI: C0001075
Disease: Achlorhydria
Achlorhydria 		0.200 Biomarker phenotype RGD WTC-dfk rats carried intragenic deletion at the Kcnq1 gene and showed impaired gain of weight, deafness, and imbalance resulting from the marked reduction of endolymph, prolonged QT interval in the electrocardiogram (ECG), and gastric achlorhydria associated with hypertrophic gastric mucosa. 16368876 2006
CUI: C2732979
Disease: Acquired long QT syndrome
Acquired long QT syndrome 		0.020 GeneticVariation disease BEFREE KvLQT1 and HERG mutations (one each) reduced K+ currents in vitro, consistent with the idea that they augment risk for aLQTS. 11997281 2002
CUI: C2732979
Disease: Acquired long QT syndrome
Acquired long QT syndrome 		0.020 GeneticVariation disease BEFREE DNA samples were screened for the four common Finnish founder mutations (KCNQ1 G589D and IVS7-2A-->G, HERG L552S, and R176W), which are known to account for the majority of inherited LQTS in Finland. 17467628 2007
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.010 Biomarker disease BEFREE However, little is known about the role of KCNQ1 and KCNH2 in AMI with VA (AMI_VA). 31751991 2020
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.310 Biomarker group CTD_human Results demonstrated that Kcnq1 is a tumor suppressor gene as Kcnq1 mutant mice developed significantly more intestinal tumors, especially in the proximal small intestine and colon, and some of these tumors progressed to become aggressive adenocarcinomas. 23975432 2014
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.310 Biomarker group BEFREE Results demonstrated that Kcnq1 is a tumor suppressor gene as Kcnq1 mutant mice developed significantly more intestinal tumors, especially in the proximal small intestine and colon, and some of these tumors progressed to become aggressive adenocarcinomas. 23975432 2014
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 AlteredExpression disease BEFREE Because K+ channel overexpression has been encountered in some cancers, we assessed KvLQT1 expression levels in tumor tissues from patients with lung AD. 24366043 2014
CUI: C0205641
Disease: Adenocarcinoma, Basal Cell
Adenocarcinoma, Basal Cell 		0.300 Biomarker disease CTD_human The role of KCNQ1 in mouse and human gastrointestinal cancers. 23975432 2014
CUI: C0205642
Disease: Adenocarcinoma, Oxyphilic
Adenocarcinoma, Oxyphilic 		0.300 Biomarker disease CTD_human The role of KCNQ1 in mouse and human gastrointestinal cancers. 23975432 2014
CUI: C0205645
Disease: Adenocarcinoma, Tubular
Adenocarcinoma, Tubular 		0.300 Biomarker disease CTD_human The role of KCNQ1 in mouse and human gastrointestinal cancers. 23975432 2014
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		0.100 Biomarker disease HPO
CUI: C1851720
Disease: Adrenocortical cytomegaly
Adrenocortical cytomegaly 		0.100 Biomarker phenotype HPO
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		0.100 Biomarker phenotype HPO
CUI: C1560249
Disease: Adverse Event Associated with Cardiac Arrhythmia
Adverse Event Associated with Cardiac Arrhythmia 		0.060 GeneticVariation phenotype BEFREE Here, positional cloning methods establish KVLQT1 as the chromosome 11-linked LQT1 gene responsible for the most common inherited cardiac arrhythmia. 8528244 1996
CUI: C1560249
Disease: Adverse Event Associated with Cardiac Arrhythmia
Adverse Event Associated with Cardiac Arrhythmia 		0.060 GeneticVariation phenotype BEFREE KCNQ1 and KCNH2 are the two most common potassium channel genes causing long QT syndrome (LQTS), an inherited cardiac arrhythmia featured by QT prolongation and increased risks of developing torsade de pointes and sudden death. 18808722 2008
CUI: C1560249
Disease: Adverse Event Associated with Cardiac Arrhythmia
Adverse Event Associated with Cardiac Arrhythmia 		0.060 GeneticVariation phenotype BEFREE Mutations in KvLQT1 underlie the dominantly transmitted Ward-Romano long QT syndrome, which causes cardiac arrhythmia, and the recessively transmitted Jervell and Lange-Nielsen syndrome, which causes both cardiac arrhythmia and congenital deafness. 11120752 2000
CUI: C1560249
Disease: Adverse Event Associated with Cardiac Arrhythmia
Adverse Event Associated with Cardiac Arrhythmia 		0.060 GeneticVariation phenotype BEFREE Inherited Long QT Syndrome (LQTS), a cardiac arrhythmia that predisposes to the often lethal ventricular fibrillation, is commonly linked to mutations in KCNQ1. 20688187 2010
CUI: C1560249
Disease: Adverse Event Associated with Cardiac Arrhythmia
Adverse Event Associated with Cardiac Arrhythmia 		0.060 GeneticVariation phenotype BEFREE To detect single nucleotide polymorphisms (SNP) in SCN5A, KCNQ1 and KCNE1 of post-MI patients, and to assess whether they are related to electrophysiological markers of cardiac arrhythmia (QT interval) and the clinical course. 18803136 2008
CUI: C1560249
Disease: Adverse Event Associated with Cardiac Arrhythmia
Adverse Event Associated with Cardiac Arrhythmia 		0.060 GeneticVariation phenotype BEFREE Our data suggest that use of NPSs, particularly synthetic cathinones, is associated with elevated risk of serious cardiac arrhythmia and sudden death for subjects carrying KCNQ1 G643S. 29855564 2018
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.100 GeneticVariation phenotype GWASDB Genetic variation and reproductive timing: African American women from the Population Architecture using Genomics and Epidemiology (PAGE) Study. 23424626 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 GeneticVariation disease BEFREE KCNQ1 SNP rs163182 showed the strongest association with AD, but it was not significant after Bonferroni correction (OR = 1.30, 95% CI = 1.07-1.59, Pcorrected = 0.32). 26499758 2015