Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020507
Disease: Hyperplasia
Hyperplasia
0.300 Therapeutic phenotype CTD_human Thus, KCNK1 suppresses phenobarbital-induced hyperplasia. 23291559 2013
CUI: C0011053
Disease: Deafness
Deafness
0.200 Biomarker phenotype RGD TWIK-1 was significantly decreased at 3 weeks and 3 months following deafness and TREK-2 was only significantly decreased at 3 days. 17884299 2007
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.110 GeneticVariation disease BEFREE We identified suggestive association with BDR among COPD subjects for variants near two potassium channel genes (KCNK1 and KCNJ2). 26503814 2016
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.110 GeneticVariation disease GWASCAT A genome-wide analysis of the response to inhaled β2-agonists in chronic obstructive pulmonary disease. 26503814 2016
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.100 GeneticVariation disease GWASCAT Shared genetic susceptibility of vascular-related biomarkers with ischemic and recurrent stroke. 26718567 2016
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.020 GeneticVariation disease BEFREE To determine whether genetic variants in KCNK1 might cause atrial fibrillation (AF), we sequenced protein-coding regions in two independent cohorts of patients (373 subjects) and identified three non-synonymous variants, p.R171H, p.I198M and p.G236S, that were all located in highly conserved amino acid residues. 27103460 2016
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.020 AlteredExpression disease BEFREE For example, phospholamban, the beta-subunit MinK (KCNE1) and MIRP2 (KCNE3), and the 2-pore potassium channel TWIK-1 were upregulated in AF-VHD compared with SR-VHD, whereas the T-type calcium-channel Cav3.1 and the transient-outward potassium channel Kv4.3 were downregulated. 16027256 2005
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 GeneticVariation disease BEFREE The HOHO European protocol is a prospective multicenter cohort study of young women with newly diagnosed breast cancer, about fertility, psychosocial and quality of life concerns. 31362134 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 GeneticVariation disease BEFREE The HOHO European protocol is a prospective multicenter cohort study of young women with newly diagnosed breast cancer, about fertility, psychosocial and quality of life concerns. 31362134 2019
Pancreatic intraepithelial neoplasia
0.010 Biomarker disease BEFREE In this study, by screening a GEO dataset containing 36 microdissected PDAC and matching normal pancreatic tissue samples, four differentially expressed K<sup>+</sup> channels (KCNJ5, KCNJ16, KCNN4 and KCNK1) were identified in PDAC. by immunohistochemical analysis of pancreatic tissue sections from Pdx1-Cre; LSL-Kras<sup>G12D/+</sup> mice (KC), Pdx1-Cre; LSL-Kras<sup>G12D/+</sup>; LSL-Trp53<sup>R172H/+</sup> mice (KPC) and human PDAC tissue microarrays, we found that Ca<sup>2+</sup>-activated K<sup>+</sup> channel KCNN4 was significantly elevated in pancreatic intraepithelial neoplasia (PanIN) and PDAC epithelia compared with untransformed pancreas tissues. 29050937 2017
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.010 Biomarker disease BEFREE In this study, by screening a GEO dataset containing 36 microdissected PDAC and matching normal pancreatic tissue samples, four differentially expressed K<sup>+</sup> channels (KCNJ5, KCNJ16, KCNN4 and KCNK1) were identified in PDAC. by immunohistochemical analysis of pancreatic tissue sections from Pdx1-Cre; LSL-Kras<sup>G12D/+</sup> mice (KC), Pdx1-Cre; LSL-Kras<sup>G12D/+</sup>; LSL-Trp53<sup>R172H/+</sup> mice (KPC) and human PDAC tissue microarrays, we found that Ca<sup>2+</sup>-activated K<sup>+</sup> channel KCNN4 was significantly elevated in pancreatic intraepithelial neoplasia (PanIN) and PDAC epithelia compared with untransformed pancreas tissues. 29050937 2017
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis
0.010 Biomarker disease BEFREE Six genes showed evidence of statistically significant association: 4 with severe CP (NIN, p = 1.6 × 10(-7); ABHD12B, p = 3.6 × 10(-7); WHAMM, p = 1.7 × 10(-6); AP3B2, p = 2.2 × 10(-6)) and 2 with high periodontal pathogen colonization (red complex-KCNK1, p = 3.4 × 10(-7); Porphyromonas gingivalis-DAB2IP, p = 1.0 × 10(-6)). 25056994 2014
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.010 AlteredExpression disease BEFREE Nav1.5 and K(+)-channels Kv4.3 and Kir3.4 were more weakly expressed, whereas the Na(+)-channel Nav2.1 and the K(+)-channel TWIK1 were more strongly expressed, in Brugada syndrome. 19029124 2009
CUI: C0017638
Disease: Glioma
Glioma
0.010 AlteredExpression disease BEFREE An essential suppressor of anchorage-independent growth is KCNK1, which is directly transactivated by TAp73 and commonly downregulated in glioma, melanoma and ovarian cancer. 18239687 2008
CUI: C0018824
Disease: Heart valve disease
Heart valve disease
0.010 AlteredExpression group BEFREE For example, phospholamban, the beta-subunit MinK (KCNE1) and MIRP2 (KCNE3), and the 2-pore potassium channel TWIK-1 were upregulated in AF-VHD compared with SR-VHD, whereas the T-type calcium-channel Cav3.1 and the transient-outward potassium channel Kv4.3 were downregulated. 16027256 2005
CUI: C0001849
Disease: AIDS Dementia Complex
AIDS Dementia Complex
0.010 Biomarker disease BEFREE Nucleotide sequence analysis of the two cDNAs identified known genes not previously associated with the pathogenesis of AIDS dementia, including the neurotrophin receptor tyrosine kinase receptor B (TrkB) and the potassium channel human open rectifyer K+ channel (ORK) homologous open reading frame (HOHO1). 11471556 2001