Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5743
Gene Symbol: PTGS2
PTGS2
0.010 Biomarker disease BEFREE Cyclooxygenase 2 inhibition slows disease progression and improves the altered renal lipid mediator profile in the Pkd2<sup>WS25/-</sup> mouse model of autosomal dominant polycystic kidney disease. 30671914 2019
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
0.010 AlteredExpression disease BEFREE Increased expression of STAT3 and RUNX1 is observed in the nuclei of renal epithelial cells, also in human ADPKD samples. 31773180 2019
Entrez Id: 406967
Gene Symbol: MIR192
MIR192
0.010 Biomarker disease BEFREE Restoring these miRs by injection of precursors influenced the reduced size of cysts in Pkd1 conditional knockout mice. miR-192 and -194 may act as potential therapeutic targets to control the expansion and progression of cysts in patients with ADPKD.-Kim, D. Y., Woo, Y. M., Lee, S., Oh, S., Shin, Y., Shin, J.-O., Park, E. Y., Ko, J. Y., Lee, E. J., Bok, J., Yoo, K. H., Park, J. H. Impact of miR-192 and miR-194 on cyst enlargement through EMT in autosomal dominant polycystic kidney disease. 30332302 2019
Entrez Id: 1634
Gene Symbol: DCN
DCN
0.010 AlteredExpression disease BEFREE Specifically, abnormal decorin expression in different stages of ADPKD may represent a new therapeutic target in ADPKD, and regulation of metabolism and mitochondrial function in ADPKD may become a focus of future research. 31330507 2019
Entrez Id: 5340
Gene Symbol: PLG
PLG
0.010 Biomarker disease BEFREE Soluble Urokinase Plasminogen Activator Receptor and Decline in Kidney Function in Autosomal Dominant Polycystic Kidney Disease. 31171572 2019
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
0.010 AlteredExpression disease BEFREE We then examined CXCL12 levels in RC fluids from patients with ADPKD and found increased CXCL12 levels. 31186083 2019
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
0.010 Biomarker disease BEFREE For the first patient, a liver biopsy confirmed the pathological features of CHF, and genetic testing revealed three heterozygous missense mutations, which were classified as "undetermined" in the public Wilson's disease/ATP7B and ADPKD/PKD1 databases. 31096464 2019
Entrez Id: 780
Gene Symbol: DDR1
DDR1
0.010 Biomarker disease BEFREE In spite of the negative results, our studies will be of interest to the nephrology community as it will prevent others from potentially conducting similar experiments on DDR1 and reinforces the potential of performing unbiased screens coupled with in vivo gene editing using CRISPR/Cas9 to rapidly identify and confirm new potential drug targets for ADPKD. 31260458 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.010 Biomarker disease BEFREE Consequently, the stimulation of cell death in ADPKD cells may occur through the inhibition of mTOR/MDM2 signaling and the restoring of p53 function. 29323708 2018
Entrez Id: 406899
Gene Symbol: MIR106A
MIR106A
0.010 AlteredExpression disease BEFREE Taken together, we suggest that the induction of miR-20b-5p or miR-106a-5p or the down-regulation of KLF12 could be used as potential novel therapies for inhibiting cyst growth in patients with ADPKD.-Shin, Y., Kim, D. Y., Ko, J. Y., Woo, Y. M., Park, J. H. Regulation of KLF12 by microRNA-20b and microRNA-106a in cystogenesis. 29475398 2018
Entrez Id: 10413
Gene Symbol: YAP1
YAP1
0.010 Biomarker disease BEFREE Taken together, our findings implicate the RhoA-YAP-c-Myc signaling axis as a critical mediator and potential drug target in ADPKD. 29891559 2018
Entrez Id: 2744
Gene Symbol: GLS
GLS
0.010 Biomarker disease BEFREE Inhibiting GLS1 in vivo with CB-839 led to variable outcomes in two mouse models of ADPKD. 29420817 2018
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
0.010 Biomarker disease BEFREE We propose that TRPV4 stimulation may be beneficial for restoring [Ca<sup>2+</sup>]<sub>i</sub> homeostasis in cyst cells, thereby interfering with ADPKD progression.-Tomilin, V., Reif, G. A., Zaika, O., Wallace, D. P., Pochynyuk, O. Deficient transient receptor potential vanilloid type 4 function contributes to compromised [Ca<sup>2+</sup>]<sub>i</sub> homeostasis in human autosomal-dominant polycystic kidney disease cells. 29553832 2018
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
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: 23513
Gene Symbol: SCRIB
SCRIB
0.010 Biomarker disease BEFREE Altogether, our data indicate that Scribble induces the phosphorylation of YAP and, consequently, influences cyst formation in ADPKD by mediating YAP nucleocytoplasmic shuttling.-Xu, D., Lv, J., He, L., Fu, L., Hu, R., Cao, Y., Mei, C. Scribble influences cyst formation in autosomal-dominant polycystic kidney disease by regulating Hippo signaling pathway. 29529391 2018
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.010 GeneticVariation disease BEFREE The effect of HH pathway hyperactivation (due to c.573C>G mutation on PTCH1 gene that cause NBCCS) on renal ADPKD progression in the proband was compared to 18 age- and sex-matched ADPKD patients in a 9-year, prospective, follow-up study. 30368514 2018
Entrez Id: 11278
Gene Symbol: KLF12
KLF12
0.010 Biomarker disease BEFREE Taken together, we suggest that the induction of miR-20b-5p or miR-106a-5p or the down-regulation of KLF12 could be used as potential novel therapies for inhibiting cyst growth in patients with ADPKD.-Shin, Y., Kim, D. Y., Ko, J. Y., Woo, Y. M., Park, J. H. Regulation of KLF12 by microRNA-20b and microRNA-106a in cystogenesis. 29475398 2018
Entrez Id: 574032
Gene Symbol: MIR20B
MIR20B
0.010 AlteredExpression disease BEFREE Taken together, we suggest that the induction of miR-20b-5p or miR-106a-5p or the down-regulation of KLF12 could be used as potential novel therapies for inhibiting cyst growth in patients with ADPKD.-Shin, Y., Kim, D. Y., Ko, J. Y., Woo, Y. M., Park, J. H. Regulation of KLF12 by microRNA-20b and microRNA-106a in cystogenesis. 29475398 2018
Entrez Id: 5465
Gene Symbol: PPARA
PPARA
0.010 AlteredExpression disease BEFREE We report that expression of PPARα and FAO/OXPHOS genes is downregulated, and in vivo β-oxidation rate of <sup>3</sup>H-labeled triolein is reduced in Pkd1<sup>RC/RC</sup> mice, a slowly progressing orthologous model of ADPKD that closely mimics the human ADPKD phenotype. 28903946 2018
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
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: 8482
Gene Symbol: SEMA7A
SEMA7A
0.010 AlteredExpression disease BEFREE Sema7a is required for renal fibrosis.SEMA7A shows robust expression in ADPKD kidneys, localizing to cysts derived from distal tubules. 29453607 2018
Entrez Id: 3596
Gene Symbol: IL13
IL13
0.010 Biomarker disease BEFREE High levels of IL-13, a STAT6-activating cytokine, are found in the cyst fluid of PKD mouse models and increased IL-13 receptors in ADPKD patient tissue, suggesting that a positive feedback loop exists between IL-13 and STAT6 is activated in cystic epithelial cells and contributes to disease progression. 29513071 2018
Entrez Id: 383
Gene Symbol: ARG1
ARG1
0.010 Biomarker disease BEFREE ARG1 is a key molecule involved in this process and is a potential therapeutic target to help delay ADPKD progression. 30042193 2018
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
0.010 Biomarker disease BEFREE Additionally, 3 patients with disease-causing mutations in NPHP4, PKHD1, and OFD1 were diagnosed with an inherited renal cystic disease other than ADPKD. 29520754 2018
Entrez Id: 6901
Gene Symbol: TAZ
TAZ
0.010 Biomarker disease BEFREE While transgenic overexpression of YAP promotes proliferation and tubule dilation in mouse kidneys, loss of YAP/TAZ or c-Myc suppresses cystogenesis in a mouse ADPKD model resulting from <i>Pkd1</i> deficiency. 29891559 2018