Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4302111
Disease: Familial Ménière disease
Familial Ménière disease
0.300 Biomarker disease GENOMICS_ENGLAND A network-based method using a random walk with restart algorithm and screening tests to identify novel genes associated with Menière's disease. 28787010 2017
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.050 GeneticVariation disease BEFREE Type-1 long-QT syndrome (LQTS) is caused by loss-of-function mutations in the KCNQ1-encoded I(Ks) cardiac potassium channel. 17470695 2007
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.050 GeneticVariation disease BEFREE Mutations in the cardiac potassium channel HERG (KCNH2) cause chromosome 7-linked long QT syndrome (LQT2) characterized by a prolonged QT interval, recurrent syncope and sudden cardiac death. 11113008 2001
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.050 GeneticVariation disease BEFREE KCNE2 encodes MinK-related peptide 1 (MiRP1), a subunit of the cardiac potassium channel I(Kr) that has been associated previously with inherited LQTS. 10984545 2000
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.050 GeneticVariation disease BEFREE An exercise stress test was performed in 23 patients with a pore region mutation and in 22 patients with a C-terminal end mutation of the cardiac potassium channel gene causing LQT1 type of long QT syndrome (KVLQT1 gene), as well as in 20 patients with mutations of the cardiac potassium channel gene causing LQT2 type of long QT syndrome (HERG gene) and in 33 healthy relatives. 10483966 1999
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.050 GeneticVariation disease BEFREE KVLQT1, the gene encoding the alpha-subunit of a cardiac potassium channel, is the most common cause of the dominant form of long-QT syndrome (LQT1-type), the Romano-Ward syndrome (RWS). 9386136 1997
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
0.020 GeneticVariation disease BEFREE Rare mutations in KCNH2 provide the pathogenic substrate for type 2 congenital long QT syndrome (LQTS), thus placing this cardiac potassium channel squarely in the intersection between congenital LQTS (the "Rosetta stone" of the heritable channelopathies) and acquired LQTS (drug-induced TdP). 16253929 2006
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
0.020 GeneticVariation disease BEFREE Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. 14661677 2004
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
0.020 GeneticVariation disease BEFREE Mutations of the KVLQT1 gene, a cardiac potassium channel, generate two allelic diseases: the Romano-Ward syndrome, inherited as a dominant trait, and the Jervell and Lange-Nielsen syndrome, inherited as an autosomal recessive trait. 9641694 1998
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
0.020 GeneticVariation disease BEFREE KVLQT1, the gene encoding the alpha-subunit of a cardiac potassium channel, is the most common cause of the dominant form of long-QT syndrome (LQT1-type), the Romano-Ward syndrome (RWS). 9386136 1997
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome
0.010 Biomarker disease BEFREE Cardiac potassium channel dysfunction in sudden infant death syndrome. 18222468 2008
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes
0.010 Biomarker disease BEFREE Rare mutations in KCNH2 provide the pathogenic substrate for type 2 congenital long QT syndrome (LQTS), thus placing this cardiac potassium channel squarely in the intersection between congenital LQTS (the "Rosetta stone" of the heritable channelopathies) and acquired LQTS (drug-induced TdP). 16253929 2006
CUI: C1720983
Disease: Channelopathies
Channelopathies
0.010 GeneticVariation group BEFREE Rare mutations in KCNH2 provide the pathogenic substrate for type 2 congenital long QT syndrome (LQTS), thus placing this cardiac potassium channel squarely in the intersection between congenital LQTS (the "Rosetta stone" of the heritable channelopathies) and acquired LQTS (drug-induced TdP). 16253929 2006