AQP2, aquaporin 2, 359

N. diseases: 114; N. variants: 41
Disease: Equilibration disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0575090
Disease: Equilibration disorder
Equilibration disorder 		0.050 GeneticVariation phenotype BEFREE Many water balance disorders are associated with defects in AQP2 gene expression regulated by the peptide hormone vasopressin. 31681015 2019
CUI: C0575090
Disease: Equilibration disorder
Equilibration disorder 		0.050 Biomarker phenotype BEFREE Dynamic regulation and dysregulation of the water channel aquaporin-2: a common cause of and promising therapeutic target for water balance disorders. 24129558 2014
CUI: C0575090
Disease: Equilibration disorder
Equilibration disorder 		0.050 Biomarker phenotype BEFREE Finally, it has become increasingly clear that AQP2 is greatly involved in many human abnormal water balance disorders that await new therapies and clinical markers. 23078817 2013
CUI: C0575090
Disease: Equilibration disorder
Equilibration disorder 		0.050 AlteredExpression phenotype BEFREE The finding of changed AQP2 expression in several acquired water balance disorders may pave the way toward developing treatments for these clinical problems. 9757370 1998
CUI: C0575090
Disease: Equilibration disorder
Equilibration disorder 		0.050 Biomarker phenotype BEFREE Pathophysiology of aquaporin-2 in water balance disorders. 9822111 1998