SEPHS1, selenophosphate synthetase 1, 22929

N. diseases: 31; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.020 Biomarker group BEFREE Abnormal activation of the signal cascade of with-no-lysine kinase (WNK) with OSR1 (oxidative stress-responsive kinase 1)/SPAK (STE20/SPS1-related proline/alanine-rich kinase) and NCC (NaCl cotransporter) results in characteristic salt-sensitive hypertension. 28566208 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.020 Biomarker group BEFREE Increased interactions between STE20/SPS1-related proline/alanine-rich kinase and the target cation-chloride cotransporters may be responsible for hypertension susceptibility in individuals with this polymorphism. 26416847 2015