WNK1, WNK lysine deficient protein kinase 1, 65125

N. diseases: 460; N. variants: 26
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		0.600 Biomarker disease GENOMICS_ENGLAND Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2. 16946995 2006
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		0.600 Biomarker disease GENOMICS_ENGLAND New HSN2 mutation in Japanese patient with hereditary sensory and autonomic neuropathy type 2. 16636245 2006
CUI: C1840391
Disease: Pseudohypoaldosteronism, Type IIc
Pseudohypoaldosteronism, Type IIc 		0.600 CausalMutation disease CLINVAR Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians. 15911806 2005
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		0.600 CausalMutation disease CLINVAR Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians. 15911806 2005
CUI: C1840391
Disease: Pseudohypoaldosteronism, Type IIc
Pseudohypoaldosteronism, Type IIc 		0.600 Biomarker disease GENOMICS_ENGLAND Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. 15060842 2004
CUI: C1840391
Disease: Pseudohypoaldosteronism, Type IIc
Pseudohypoaldosteronism, Type IIc 		0.600 CausalMutation disease CLINVAR Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. 15060842 2004
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		0.600 CausalMutation disease CLINVAR Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. 15060842 2004
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		0.600 Biomarker disease GENOMICS_ENGLAND Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. 15060842 2004
CUI: C1840391
Disease: Pseudohypoaldosteronism, Type IIc
Pseudohypoaldosteronism, Type IIc 		0.600 Biomarker disease GENOMICS_ENGLAND Human hypertension caused by mutations in WNK kinases. 11498583 2001
CUI: C1840391
Disease: Pseudohypoaldosteronism, Type IIc
Pseudohypoaldosteronism, Type IIc 		0.600 Biomarker disease GENOMICS_ENGLAND Human hypertension caused by mutations in WNK kinases. 11498583 2001
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		0.600 Biomarker disease GENOMICS_ENGLAND Human hypertension caused by mutations in WNK kinases. 11498583 2001
CUI: C1840391
Disease: Pseudohypoaldosteronism, Type IIc
Pseudohypoaldosteronism, Type IIc 		0.600 Biomarker disease CTD_human
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		0.600 Biomarker disease CTD_human
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.500 Biomarker group BEFREE Mutations in the gene of WNK family, especially in WNK1 and WNK4 are responsible for pseudohypoaldosteronism type II (PHAII), characterized by hypertension. 31017050 2020
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.500 AlteredExpression group BEFREE We also found that WNK4 (its mutations lead to hypertension) expression, but not WNK1, was significantly increased in CLDN7<sup>-/-</sup> CD cell lines as well as in primary CLDN7<sup>-/-</sup> CD cells, suggesting that the expression of WNK4 was modulated by CLDN7. 31382627 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.500 GeneticVariation group BEFREE Variants of WNK1 (lysine deficient protein kinase 1), ADRB2 (β2 adrenergic receptor), NEDD4L (ubiquitin-protein ligase NEDD4-like), KLK1 (kallikrein 1) contribute to hypertension, and AKR1C3 (aldo-keto reductase family1 member C3), is associated with preeclampsia. 29777907 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.500 GeneticVariation group BEFREE The aim of this study was to investigate the association between With-No-Lysine (K) Kinase 1 (WNK1), Serine/Threonine kinase 39(STK39) genes variants and hypertension in the Tibetan population. 28945285 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.500 Biomarker group BEFREE In the untreated hypertensive group, increased levels (<i>P</i><0.05) of the proinflammatory molecules p65 NF-κB, vascular cell adhesion molecule 1 and interleukin-6 antibody in the myocardium, aortic wall and PBMC were observed and were reduced with fasudil (<i>P</i><0.05).In conclusion, in this hypertension model, Rho-kinase and its pathway activation determined in circulating leukocytes reflect the activation of this pathway in the myocardium and in the aortic wall and are significantly related to myocardial remodeling (hypertrophy, fibrosis and inflammation). 30065083 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.500 Biomarker group BEFREE Mutations in the with-no-lysine kinase 1 (WNK1), WNK4, Kelch-like 3 (KLHL3), and Cullin3 (CUL3) genes were identified as being responsible for hereditary hypertensive disease pseudohypoaldosteronism type II (PHAII). 28414128 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.500 GeneticVariation group BEFREE Mutations in WNK1 and WNK4 are linked to a hereditary form of hypertension, and WNKs have been extensively investigated pertaining to their roles in renal epithelial ion homeostasis. 27131446 2016
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.500 GeneticVariation group BEFREE Single nucleotide polymorphisms rs3754777 (STK39) and rs1468326 (WNK1) were associated with hypertension and BP in our multicenter Belgian case-control study, which supports the role of STK39 and WNK1 as potential hypertension susceptibility genes. 27082544 2016
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.500 Biomarker group BEFREE Of those mRNAs, seven mRNAs in five genes (MME, PTPRO, REN, SLC12A3, and WNK1) had strong prior annotation to BP or hypertension. 25918036 2015
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.500 GeneticVariation group BEFREE Consistent with previous reports, rs11064560 in WNK1 was also associated with bevacizumab-induced hypertension (OR 1.41 [95 % CI 1.04-1.92], P = 0.028). 24558090 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.500 Biomarker group BEFREE Mutations in the novel serine/threonine WNK [With No lysine (=K)] kinases WNK1 and WNK4 cause PHAII (pseudohypoaldosteronism type II or Gordon's syndrome), a rare monogenic syndrome which causes hypertension and hyperkalaemia on a background of a normal glomerular filtration rate. 23336180 2013
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.500 GeneticVariation group BEFREE Common variations in the gene with no-lysine kinase 1 (WNK1) are associated with hypertension, but because of gene-environment interaction, it is difficult to fully identify the genetic contribution of WNK1 gene polymorphism to blood pressure (BP) variability. 23059770 2013