Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria
0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.100 Biomarker disease HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex
0.100 Biomarker phenotype HPO
CUI: C0151564
Disease: Cogwheel Rigidity
Cogwheel Rigidity
0.100 Biomarker phenotype HPO
CUI: C0231687
Disease: Spastic gait
Spastic gait
0.100 Biomarker phenotype HPO
CUI: C0349588
Disease: Short stature
Short stature
0.100 Biomarker phenotype HPO
Delayed speech and language development
0.100 Biomarker phenotype HPO
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay
0.100 Biomarker disease HPO
CUI: C1262477
Disease: Weight decreased
Weight decreased
0.100 Biomarker phenotype HPO
CUI: C1854301
Disease: Motor delay
Motor delay
0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
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
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
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: 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: C0206525
Disease: Tuberculosis, Drug-Resistant
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
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: C0040479
Disease: Torsades de Pointes
Torsades de Pointes
0.020 Biomarker disease BEFREE Drugs which cause TdP block the hERG cardiac potassium channel. 29456831 2017
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: C0038644
Disease: Sudden infant death syndrome
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
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: 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 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 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