Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 445
Gene Symbol: ASS1
ASS1
0.010 AlteredExpression disease BEFREE We now show that, in a remarkable parallel to RCC, ASS1 expression is reduced in murine and human ADPKD, and arginine depletion results in a dose-dependent compensatory increase in ASS1 levels as well as decreased cystogenesis in vitro and ex vivo with minimal toxicity to normal cells. 30280600 2018
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
0.010 Biomarker disease BEFREE <b>Conclusion:</b><sup>18</sup>F-FDG PET/CT is a useful imaging modality for the evaluation of patients with ADPKD and suspected cyst infection. 29653972 2018
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
0.010 Biomarker disease BEFREE Our findings suggest that multi-target PI3K/mTOR inhibition may represent a potential treatment for ADPKD. 29615724 2018
Entrez Id: 51726
Gene Symbol: DNAJB11
DNAJB11
0.010 GeneticVariation disease BEFREE Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease. 29706351 2018
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.010 GeneticVariation disease BEFREE ADTKD-UMOD was the most common genetic kidney disease after ADPKD with a population prevalence of 9 per million. 30376835 2018
Entrez Id: 4283
Gene Symbol: CXCL9
CXCL9
0.010 Biomarker disease BEFREE By immunofluorescence, T cells specifically localized to cystic lesions and increased levels of T-cell recruiting chemokines (CXCL9/CXCL10) were detected by qPCR/in situ hybridization in the kidneys of mice, patients, and ADPKD epithelial cell lines. 30249452 2018
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.010 Biomarker disease BEFREE Of note, inhibition of vasopressin function using vasopressin 2 receptor (V2R) antagonist which decreased cAMP production along with AQP2 production and function can slow cyst growth in ADPKD. 29524884 2018
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.010 Biomarker disease BEFREE Our findings suggest that multi-target PI3K/mTOR inhibition may represent a potential treatment for ADPKD. 29615724 2018
Entrez Id: 6778
Gene Symbol: STAT6
STAT6
0.010 Biomarker disease BEFREE STAT6 is aberrantly active in PKD mouse models and human ADPKD, and genetic removal or pharmacological inhibition of STAT6 attenuates disease progression. 29513071 2018
Entrez Id: 3627
Gene Symbol: CXCL10
CXCL10
0.010 Biomarker disease BEFREE By immunofluorescence, T cells specifically localized to cystic lesions and increased levels of T-cell recruiting chemokines (CXCL9/CXCL10) were detected by qPCR/in situ hybridization in the kidneys of mice, patients, and ADPKD epithelial cell lines. 30249452 2018
Entrez Id: 2066
Gene Symbol: ERBB4
ERBB4
0.010 Biomarker disease BEFREE Our results implicate ErbB4 activation as functionally relevant in ADPKD, both as a marker of disease activity and as a new therapeutic target in this major kidney disease. 28077374 2017
Entrez Id: 1471
Gene Symbol: CST3
CST3
0.010 Biomarker disease BEFREE The usefulness of cystatin-C as a biomarker to assess renal function according to renal volume has not been studied in ADPKD patients. 28346513 2017
Entrez Id: 2875
Gene Symbol: GPT
GPT
0.010 Biomarker disease BEFREE The frequency of predicted alanine aminotransferase (ALT) elevations, following simulated 90/30  mg split daily dosing, was 7.9% compared with clinical observations of 4.4% in ADPKD trials. 27655350 2017
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
0.010 AlteredExpression disease BEFREE Notably, the mitochondrial DNA copy number and peroxisome proliferator-activated receptor γ coactivator 1α (PGC-1α) expression were decreased in ADPKD model animal kidneys, with PGC-1α expression inversely correlated with oxidative stress levels. 28993480 2017
Entrez Id: 406958
Gene Symbol: MIR182
MIR182
0.010 Biomarker disease BEFREE We verified that miR-182-5p regulates actin cytoskeleton rearrangement and promotes ADPKD cystogenesis by repressing its target genes-Wasf2, Dock1, and Itga4-in vitro and in vivo. 29074972 2017
Entrez Id: 3075
Gene Symbol: CFH
CFH
0.010 GeneticVariation disease BEFREE Highest FHR-1 levels and FHR-1/FH ratios are found in patients with IgAN with disease progression and in patients with ADPKD who have reached chronic kidney disease, suggesting that renal function impairment elevates the FHR-1/FH ratio, which may increase FHR-1/FH competition for activated C3 fragments. 28637589 2017
Entrez Id: 282679
Gene Symbol: AQP11
AQP11
0.010 GeneticVariation disease BEFREE Although ER stress and impairment of polycystin-1, the product of the gene mutated in autosomal-dominant polycystic kidney disease, are possible causes of cystogenesis in AQP11-null mice, the exact mechanism of pathogenesis and the physiological function of AQP11 are yet to be resolved. 26798062 2017
Entrez Id: 5136
Gene Symbol: PDE1A
PDE1A
0.010 Biomarker disease BEFREE These results support an important role of PDE1A in the renal pathogenesis of ADPKD and in the regulation of blood pressure. 28750036 2017
Entrez Id: 6776
Gene Symbol: STAT5A
STAT5A
0.010 AlteredExpression disease BEFREE To study whether STAT5 is abnormally activated in vivo, we analyzed its expression using two independent mouse models of ADPKD. 28104302 2017
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
0.010 GeneticVariation disease BEFREE The pathogenic variants in NCOR2 and LRP2 genes were present in all analysed samples of ADPKD. 29687770 2017
Entrez Id: 406991
Gene Symbol: MIR21
MIR21
0.010 AlteredExpression disease BEFREE In particular two miRNAs, miR-17 family and miR-21, are both upregulated in kidney cysts and promote ADPKD progression in mouse models. miR-17 rewires cyst epithelial metabolism to enhance cyst proliferation. 28399020 2017
Entrez Id: 9076
Gene Symbol: CLDN1
CLDN1
0.010 AlteredExpression disease BEFREE We found that ADPKD cells respond to ouabain with a decrease in expression of the epithelial marker E-cadherin and increase in the expression of the mesenchymal markers N-cadherin, α smooth muscle actin (αSMA) and collagen-I; and the tight junction protein occludin and claudin-1. 28385574 2017
Entrez Id: 9612
Gene Symbol: NCOR2
NCOR2
0.010 GeneticVariation disease BEFREE The pathogenic variants in NCOR2 and LRP2 genes were present in all analysed samples of ADPKD. 29687770 2017
Entrez Id: 6777
Gene Symbol: STAT5B
STAT5B
0.010 AlteredExpression disease BEFREE To study whether STAT5 is abnormally activated in vivo, we analyzed its expression using two independent mouse models of ADPKD. 28104302 2017
Entrez Id: 1523
Gene Symbol: CUX1
CUX1
0.010 Biomarker disease BEFREE Cux1 promotes cell proliferation and polycystic kidney disease progression in an ADPKD mouse model. 28701314 2017