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: 554
Gene Symbol: AVPR2
AVPR2
0.900 GeneticVariation disease BEFREE Identification of a novel X-linked arginine-vasopressin receptor 2 mutation in nephrogenic diabetes insipidus: Case report and pedigree analysis. 31577731 2019
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: 554
Gene Symbol: AVPR2
AVPR2
0.900 GeneticVariation disease BEFREE A novel AVPR2 missense mutation in an Asian family with inherited nephrogenic diabetes insipidus: A case report. 31027113 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: 554
Gene Symbol: AVPR2
AVPR2
0.900 GeneticVariation disease BEFREE Functional characterization of AVPR2 mutants found in Turkish patients with nephrogenic diabetes insipidus. 29117938 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: 554
Gene Symbol: AVPR2
AVPR2
0.900 GeneticVariation disease BEFREE Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree. 29394883 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: 554
Gene Symbol: AVPR2
AVPR2
0.900 GeneticVariation disease BEFREE This chapter will first review various forms of DI focusing on central diabetes insipidus (CDI) and nephrogenic diabetes insipidus (NDI ) . 28258576 2017
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
0.900 GeneticVariation disease BEFREE • X-linked nephrogenic diabetes insipidus is caused by AVPR2 mutations, and disease severity can vary depending on the functional effect of the mutation. 26795631 2016
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
0.900 GeneticVariation disease BEFREE Novel large deletion in AVPR2 gene causing copy number variation in a patient with X-linked nephrogenic diabetes insipidus. 26828532 2016
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
0.900 Biomarker disease GENOMICS_ENGLAND Novel large deletion in AVPR2 gene causing copy number variation in a patient with X-linked nephrogenic diabetes insipidus. 26828532 2016
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