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 Nephrogenic diabetes insipidus is caused by mutations of the arginine vasopressin receptor (AVPR2) or aquaporin-II (AQP2) genes. 19294427 2009
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 GeneticVariation disease BEFREE Alterations in AQP2 function induce nephrogenic diabetes insipidus (NDI), a condition characterized by severe polyuria and polydipsia. 19458121 2009
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 GeneticVariation disease BEFREE Dominant nephrogenic diabetes insipidus (NDI), a disease in which the kidney is unable to concentrate urine in response to vasopressin, is caused by AQP2 gene mutations. 19585583 2009
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 GeneticVariation disease BEFREE Mutations in AQP2 cause autosomal nephrogenic diabetes insipidus (NDI), a disease that renders the kidney unresponsive to vasopressin, resulting in polyuria and polydipsia. 19701945 2009
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 Therapeutic disease CTD_human Hsp90 inhibitor partially corrects nephrogenic diabetes insipidus in a conditional knock-in mouse model of aquaporin-2 mutation. 18854434 2009
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 Biomarker disease CTD_human Hsp90 inhibitor partially corrects nephrogenic diabetes insipidus in a conditional knock-in mouse model of aquaporin-2 mutation. 18854434 2009
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 Biomarker disease CTD_human V2R mutations and nephrogenic diabetes insipidus. 20374732 2009
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 Therapeutic disease CTD_human V2R mutations and nephrogenic diabetes insipidus. 20374732 2009
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 GeneticVariation disease LHGDN Aquaporin 2 mutations in nephrogenic diabetes insipidus. 18519086 2008
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 Biomarker disease BEFREE Novel treatment for lithium-induced nephrogenic diabetes insipidus rat model using the Sendai-virus vector carrying aquaporin 2 gene. 18653713 2008
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 Biomarker disease RGD Proteomic analysis of lithium-induced nephrogenic diabetes insipidus: mechanisms for aquaporin 2 down-regulation and cellular proliferation. 18296634 2008
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 GeneticVariation disease BEFREE This review describes the current knowledge on AQP2 mutations in nephrogenic diabetes insipidus. 18519086 2008
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 Biomarker disease CTD_human Novel treatment for lithium-induced nephrogenic diabetes insipidus rat model using the Sendai-virus vector carrying aquaporin 2 gene. 18653713 2008
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 Therapeutic disease CTD_human Novel treatment for lithium-induced nephrogenic diabetes insipidus rat model using the Sendai-virus vector carrying aquaporin 2 gene. 18653713 2008
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 GeneticVariation disease BEFREE Characterization of two novel missense mutations in the AQP2 gene causing nephrogenic diabetes insipidus. 17192724 2007
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 Biomarker disease BEFREE Correlation between AVPR2 mutations and urinary AQP2 excretion in patients with nephrogenic diabetes insipidus. 17550212 2007
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 GeneticVariation disease BEFREE Recent studies show that genetic forms of nephrogenic diabetes insipidus are due to mutations in the genes coding for the vasopressin V2 receptor (V2R) or aquaporin-2 (AQP2). 17954951 2007
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 Biomarker disease MGD Nephrogenic diabetes insipidus in mice caused by deleting COOH-terminal tail of aquaporin-2. 17229678 2007
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 GeneticVariation disease LHGDN Novel mutations underlying nephrogenic diabetes insipidus in Arab families. 16845277 2006
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 Biomarker disease BEFREE An analysis of the pathological mechanism involved in nephrogenic diabetes insipidus suggests that molecular chaperones may improve the intracellular trafficking of AQP2 and V2R, and, in the near future, such chaperones may become a new clinical tool for treating nephrogenic diabetes insipidus. 17009073 2006
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 Biomarker disease BEFREE Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus. 16825342 2006
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 Biomarker disease MGD Pathogenesis and treatment of autosomal-dominant nephrogenic diabetes insipidus caused by an aquaporin 2 mutation. 16968783 2006
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 Biomarker disease MGD Congenital progressive hydronephrosis (cph) is caused by an S256L mutation in aquaporin-2 that affects its phosphorylation and apical membrane accumulation. 16641094 2006
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 GeneticVariation disease LHGDN Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus. 16825342 2006
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 Biomarker disease MGD Diabetes insipidus in mice with a mutation in aquaporin-2. 16121255 2005