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 |
Dwarfism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Dysarthria
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Microcephaly
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Babinski Reflex
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Cogwheel Rigidity
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Spastic gait
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Short stature
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Delayed speech and language development
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Clumsiness - motor delay
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Weight decreased
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Motor delay
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Short Stature, CTCAE
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |