Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 GeneticVariation disease BEFREE Molecular characterization of an aquaporin-2 mutation causing a severe form of nephrogenic diabetes insipidus. 31302751 2020
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 GeneticVariation disease BEFREE Mutation or functional deficiency of AQP2 leads to severe nephrogenic diabetes insipidus. 30654539 2019
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 Biomarker disease BEFREE Our data provide a potential explanation to lithium-induced nephrogenic diabetes insipidus where lithium reduces Elf3 and hence AQP2 abundance. 31681015 2019
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 AlteredExpression disease BEFREE Consistently, we previously demonstrated that tamoxifen (TAM), a selective estrogen receptor modulator, attenuates the downregulation of AQP2 in lithium-induced nephrogenic diabetes insipidus (NDI). 31447686 2019
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 AlteredExpression disease BEFREE GYY4137, a slow H<sub>2</sub>S donor, markedly improved urine concentration and prevented the down-regulation of renal AQP-2 protein expression in mice with lithium-induced nephrogenic diabetes insipidus (NDI). 30036087 2019
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 AlteredExpression disease BEFREE In conclusion, adenine acts on renal tubules as a signaling molecule and causes nephrogenic diabetes insipidus with salt wasting, at least, by directly interfering with AVP V2 receptor signaling with subsequent downregulation of NKCC2 and AQP2 in the kidney. 30623725 2019
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 AlteredExpression disease BEFREE AKAPs-PKA disruptors increase AQP2 activity independently of vasopressin in a model of nephrogenic diabetes insipidus. 29650969 2018
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 Biomarker disease BEFREE They affect AQP2, AQP5 and AQP8, where they are associated with nephrogenic diabetes insipidus, keratoderma and colorectal cancer, respectively. 29799470 2018
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 Biomarker disease BEFREE AQP2 = aquaporin-2; AVP = vasopressin; CDI = central diabetes insipidus; cCDI = complete central diabetes insipidus; DDAVP = desmopressin; DI = diabetes insipidus; IQR = interquartile range; MRI = magnetic resonance imaging; Na<sup>+</sup> = sodium; NDI = nephrogenic diabetes insipidus; pCDI = partial central diabetes insipidus; PP = primary polydipsia; PPS = polyuria-polydipsia syndrome; S_osm = serum osmolality; U_osm = urine osmolality; WDT = water deprivation test. 30106630 2018
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 AlteredExpression disease BEFREE Inhibition of aerobic glycolysis with 2-deoxyglucose (2DG) attenuated lithium-induced AQP2 downregulation in mpkCCD cells but did not attenuate Li-NDI in mice. 29070571 2018
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 AlteredExpression disease BEFREE We used tubule suspensions of inner medullary collecting duct (IMCD) cells from rat kidneys to investigate the effect of TGR5 signaling on aquaporin-2 (AQP2) expression, and examined the <i>in vivo</i> effects of TGR5 in mice with lithium-induced nephrogenic diabetes insipidus (NDI) and <i>Tgr5</i> knockout (<i>Tgr5</i><sup>-/-</sup>) mice. 30305310 2018
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 AlteredExpression disease BEFREE In conclusion, the direct renin inhibitor aliskiren upregulates AQP2 protein expression in inner medullary collecting duct principal cells and prevents lithium-induced nephrogenic diabetes insipidus likely via cAMP-PKA pathways. 28228402 2017
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 AlteredExpression disease BEFREE Two processes are associated with progressive loss of renal function: 1) decreased aquaporin-2 (AQP2) expression and urinary concentrating capacity (Nephrogenic Diabetes Insipidus, NDI); and 2) changes in extracellular matrix (ECM) composition, e.g. increased collagen I (Col I) deposition, characteristic of tubule-interstitial fibrosis. 28736155 2017
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 GeneticVariation disease BEFREE AQP4-targeted therapies for neuromyelitis optica, enhancement of AQP2 function for nephrogenic diabetes insipidus and AQP1-5 gene transfer for the Sjogren's syndrome represent promising therapies that deserve further investigation by clinical trials. 27622909 2017
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 Biomarker disease BEFREE Hypercalcemia induces targeted autophagic degradation of aquaporin-2 at the onset of nephrogenic diabetes insipidus. 28139295 2017
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 Biomarker disease BEFREE Human aquaporin 2 (AQP2) from the family of aquaporins assumes great physiological importance, owing to its association with nephrogenic diabetes insipidus (NDI). 27793629 2017
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 Biomarker disease BEFREE We present a simple graphical visualization medium for the representation of evolutionary influenced interaction pattern pairs (EIPPs) adapted to mutagen investigations of aquaporin-2, a protein whose mutants are involved in the rare endocrine disorder known as nephrogenic diabetes insipidus, and membrane proteins in general. 26180540 2015
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 Biomarker disease BEFREE X-ray structure of human aquaporin 2 and its implications for nephrogenic diabetes insipidus and trafficking. 24733887 2014
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 AlteredExpression disease BEFREE Disrupted function or regulation of AQP2 or the AVPR2 results in nephrogenic diabetes insipidus (NDI), a common clinical condition of renal origin characterized by polydipsia and polyuria. 23360744 2013
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 GeneticVariation disease BEFREE Familial form of nephrogenic diabetes insipidus (NDI) is a rare hereditary disease caused by arginine vasopressin type 2 receptor (AVPR2) or water channel aquaporin 2 (AQP2) gene mutations. 23150186 2013
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 GeneticVariation disease BEFREE Investigations into primary inherited nephrogenic diabetes insipidus (NDI) have contributed enormously to our understanding of the mechanisms of urinary concentration and identified the vasopressin receptor AVPR2, as well as the water channel aquaporin-2 (AQP2), as key players in water reabsorption in the collecting duct. 23364801 2013
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 Biomarker disease BEFREE The critical importance of AQP2 in the urine concentrating ability is demonstrated by a human disease, nephrogenic diabetes insipidus (NDI), and by gene targeting of AQP2 in mice. 23078817 2013
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 GeneticVariation disease BEFREE The aim of this study was to identify mutations in three different genes, the arginine-vasopressin-neurophysin II (AVP-NPII) gene, the arginine-vasopressin receptor 2 (AVPR2) gene, and the vasopressin-sensitive water channel aquaporin-2 (AQP2) gene in Turkish patients affected by central diabetes insipidus or nephrogenic diabetes insipidus. 22644838 2012
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 Biomarker disease BEFREE The syndrome can also result from resistance to the antidiuretic effects of vasopressin on the kidney, either at the level of the vasopressin 2 receptor or the aquaporin 2 water channel (which mediates the re-absorption of water from urine), and is referred to as renal or nephrogenic diabetes insipidus. 21727914 2011
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 GeneticVariation disease BEFREE New autosomal recessive mutations in aquaporin-2 causing nephrogenic diabetes insipidus through deficient targeting display normal expression in Xenopus oocytes. 20403973 2010