Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.010 Biomarker phenotype BEFREE Blockage of some ion channels and in particular, the hERG (human Ether-a'-go-go-Related Gene) cardiac potassium channel delays cardiac repolarization and can induce arrhythmia. 29297274 2017
CUI: C1720983
Disease: Channelopathies
Channelopathies 		0.010 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 2005
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C0151564
Disease: Cogwheel Rigidity
Cogwheel Rigidity 		0.100 Biomarker phenotype HPO
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.020 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 2005
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 2003
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 AlteredExpression disease BEFREE HK-I/II expression and their activities increased in the synovium of RA compared with osteoarthritis (OA). 30944034 2019
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		0.010 Biomarker disease BEFREE In addition, we detected ten potential novel drug targets (e.g., KCNA1, KCNA4-6, KCNC3, KCND2, KCNMA1, CAMK2G, CACNB4 and GRM1) located in three RE related disease modules, which might provide novel insights into the new drug discovery for RE therapy. 28388656 2017
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
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 2000
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 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 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: 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: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		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: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 Biomarker group BEFREE Since there is no other available probe in this region, pCN2 should prove very useful in studying abnormalities of chromosome 9p in human malignancies. 1879830 1991
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C4748984
Disease: MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM
MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM 		0.300 GeneticVariation disease UNIPROT KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability. 27582084 2016
CUI: C1854301
Disease: Motor delay
Motor delay 		0.100 Biomarker phenotype HPO
CUI: C0231528
Disease: Myalgia
Myalgia 		0.010 GeneticVariation phenotype BEFREE We evaluated the hypothesis that vibration induces an interleukin 6 (IL-6)-mediated downregulation of the potassium voltage-gated channel subfamily A member 4 (KV1.4) in nociceptors leading to muscle pain. 31335655 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 AlteredExpression disease BEFREE HK-I/II expression and their activities increased in the synovium of RA compared with osteoarthritis (OA). 30944034 2019