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 |
Dwarfism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Dysarthria
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Microcephaly
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Clumsiness - motor delay
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
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 |
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 |
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 |
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 |
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 |
Torsades de Pointes
|
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 |
Torsades de Pointes
|
0.020 |
Biomarker
|
disease |
BEFREE |
Drugs which cause TdP block the hERG cardiac potassium channel.
|
29456831 |
2017 |
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 |
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 |
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 |
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 |
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 |
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 |
Romano-Ward Syndrome
|
0.010 |
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 |
Sudden infant death syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
However, the functional consequences of cardiac potassium channel gene mutations associated with SIDS and how these alleles might mechanistically predispose to sudden death are unknown.
|
18222468 |
2008 |
Ventricular Fibrillation
|
0.010 |
Biomarker
|
disease |
BEFREE |
Recent studies have revealed that mutation in KCNE1, β-subunits of cardiac potassium channel, involved in ventricular fibrillation.
|
29395134 |
2018 |
Tuberculosis, Drug-Resistant
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Bedaquiline is a new drug of the diarylquinoline class that has proven to be clinically effective against drug-resistant tuberculosis, but has a cardiac liability (prolongation of the QT interval) due to its potent inhibition of the cardiac potassium channel protein hERG.
|
30803745 |
2019 |
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 |
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 |
Babinski Reflex
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
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|