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 |
|
|
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |