Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 50506
Gene Symbol: DUOX2
DUOX2
0.010 Biomarker disease BEFREE A significant difference in nicotinamide adenine dinucleotide phosphate oxidase 2 concentrations was observed between T0 and T2 only in ADPKD patients treated with ALA (P = 0.039, P = 0.039; respectively), although we did not find a significant difference in interleukin-6, interleukin -1β, and tumor necrosis factor-α concentrations in either group. 31790890 2020
Entrez Id: 53905
Gene Symbol: DUOX1
DUOX1
0.010 Biomarker disease BEFREE A significant difference in nicotinamide adenine dinucleotide phosphate oxidase 2 concentrations was observed between T0 and T2 only in ADPKD patients treated with ALA (P = 0.039, P = 0.039; respectively), although we did not find a significant difference in interleukin-6, interleukin -1β, and tumor necrosis factor-α concentrations in either group. 31790890 2020
Entrez Id: 9943
Gene Symbol: OXSR1
OXSR1
0.010 Biomarker disease BEFREE Therefore, we aimed to investigate the potential role of OSR-1 in ADPKD patients. 31020807 2020
Entrez Id: 1506
Gene Symbol: CTRL
CTRL
0.010 GeneticVariation disease BEFREE To this end, peri-adventitial innervation of renal arteries was studied using morphological methods from 49 patients in total: 29 underwent surgical nephrectomies for ADPKD and 20 non-dialysis patients (CTRL group) undergoing nephrectomy for other diseases. 31025246 2020
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
0.010 Biomarker disease BEFREE Several Nrf2 activators are at various stages of clinical development and are being tested in clinical trials for chronic kidney disease (CKD) including diabetic kidney disease, Alport syndrome, autosomal dominant polycystic kidney disease and focal segmental glomerulosclerosis. 31592832 2020
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
0.010 GeneticVariation disease BEFREE We reported a very early-onset autosomal dominant polycystic kidney disease (ADPKD) family caused by a novel heterozygous PKD1 mutation; another fetus with DYNC2H1 compound heterozygous missense mutations showed mainly kidney dysplasia instead of skeletal abnormalities; and a novel PKD1 mutation, c.12445-3C > G, was confirmed to cause two wrong splicing modes. 31730820 2020
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
0.010 GeneticVariation disease BEFREE This study demonstrates that the urinary proteome of pediatric RCAD patients differs from autosomal dominant polycystic kidney disease (PKD1, PKD2), congenital nephrotic syndrome (NPHS1, NPHS2, NPHS4, NPHS9) as well as from chronic kidney disease conditions, suggesting differences between the pathophysiology behind these disorders. 30778115 2019
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
0.010 AlteredExpression disease BEFREE Stromal interaction molecule 1 (STIM1) protein expression was 15-fold higher in PC1-null proximal tubule cells (PN) than in heterozygote (PH) controls and 2-fold higher in an inducible, PC1 knockout, mouse model of ADPKD compared to a non-cystic match control. 30296477 2019
Entrez Id: 54
Gene Symbol: ACP5
ACP5
0.010 GeneticVariation disease BEFREE Laboratory parameters of bone mineral metabolism (fibroblast growth factor 23 and sclerostin), bone turnover markers (bone alkaline phosphatase, tartrate-resistant acid phosphatase 5b) and bone mineral density (BMD, by dual energy x-ray absorptiometry, DXA) were assessed in 518 patients with ESRD, including 99 with ADPKD. 30665572 2019
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.010 AlteredExpression disease BEFREE Present findings suggested that low levels of serum 25(OH)D and VDR expression are associated with a higher kidney volume in ADPKD patients, but do not represent independent risk factors for htTKV. 31179282 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.010 PosttranslationalModification disease BEFREE JAK2 inhibition led to significantly reduced tyrosine phosphorylation of STAT3 and markedly reduced cystic growth of human and mouse ADPKD-derived cells in cystogenesis assays. 30872773 2019
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
0.010 AlteredExpression disease BEFREE Among these, CD133 was upregulated in exosomes from autosomal dominant polycystic kidney disease and validated by ELISA. 31018934 2019
Entrez Id: 133308
Gene Symbol: SLC9B2
SLC9B2
0.010 AlteredExpression disease BEFREE Finally, we observed robust induction of NHA2 by vasopressin, which is physiologically consistent with increased levels of circulating vasopressin and up-regulation of vasopressin V2 receptors in ADPKD. 30242840 2019
Entrez Id: 2108
Gene Symbol: ETFA
ETFA
0.010 Biomarker disease BEFREE • TKV is a prognostic indicator in ADPKD and the only imaging biomarker approved by the FDA and EMA. 30666443 2019
Entrez Id: 10014
Gene Symbol: HDAC5
HDAC5
0.010 Biomarker disease BEFREE These results suggest that HDAC5 nucleocytoplasmic shuttling may be modulated to impede disease progression in ADPKD and uncovers an unexpected role for a class of dopamine receptors in renal epithelial morphogenesis. 31059522 2019
Entrez Id: 567
Gene Symbol: B2M
B2M
0.010 Biomarker disease BEFREE At baseline, albumin, immunoglobulin G, kidney injury molecule 1, β2 microglobulin (β2MG), heart-type fatty acid-binding protein, neutrophil gelatinase-associated lipocalin, and monocyte chemotactic protein-1 -(MCP-1) were measured in 24-h urine samples of patients participating in a study investigating the therapeutic efficacy of lanreotide in ADPKD. 31600749 2019
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
0.010 Biomarker disease BEFREE • TKV is a prognostic indicator in ADPKD and the only imaging biomarker approved by the FDA and EMA. 30666443 2019
Entrez Id: 407014
Gene Symbol: MIR25
MIR25
0.010 GeneticVariation disease BEFREE We designed anti-miRs to individually inhibit miR-17, miR-18, miR-19 or miR-25 families in an orthologous ADPKD model. 30760828 2019
Entrez Id: 4513
Gene Symbol: COX2
COX2
0.010 Biomarker disease BEFREE Therefore, we examined whether a COX2 inhibitor would reduce disease progression in the Pkd2<sup>WS25/-</sup> mouse model of autosomal dominant polycystic kidney disease (ADPKD). 30671914 2019
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
0.010 AlteredExpression disease BEFREE Patients with ADPKD had higher podocin and podocalyxin levels compared to the control group. 31117091 2019
Entrez Id: 5420
Gene Symbol: PODXL
PODXL
0.010 AlteredExpression disease BEFREE The levels of podocin and podocalyxin were higher in ADPKD patients with eGFR <60 mL/min/1.73 m2 than in ADPKD patients with eGFR ≥60 mL/min/1.73 m2. 31117091 2019
Entrez Id: 9097
Gene Symbol: USP14
USP14
0.010 Biomarker disease BEFREE Moreover, we show that pharmacological inhibition of Usp14 positively affects Hh signal transduction in a model of autosomal dominant polycystic kidney disease. 30388222 2019
Entrez Id: 26762
Gene Symbol: HAVCR1
HAVCR1
0.010 Biomarker disease BEFREE At baseline, albumin, immunoglobulin G, kidney injury molecule 1, β2 microglobulin (β2MG), heart-type fatty acid-binding protein, neutrophil gelatinase-associated lipocalin, and monocyte chemotactic protein-1 -(MCP-1) were measured in 24-h urine samples of patients participating in a study investigating the therapeutic efficacy of lanreotide in ADPKD. 31600749 2019
Entrez Id: 360
Gene Symbol: AQP3
AQP3
0.010 Biomarker disease BEFREE These findings implicate AQP3 as a novel determinant of renal cyst enlargement and hence a potential drug target in ADPKD.-Wang, W., Geng, X., Lei, L., Jia, Y., Li, Y., Zhou, H., Verkman, A. S., Yang, B. Aquaporin-3 deficiency slows cyst enlargement in experimental mouse models of autosomal dominant polycystic kidney disease. 30768374 2019
Entrez Id: 50964
Gene Symbol: SOST
SOST
0.010 AlteredExpression disease BEFREE Circulating sclerostin levels were significantly higher in ADPKD patients (2.20 vs 1.84 ng/L). 30665572 2019