Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
0.300 Biomarker disease BEFREE Dysfunction of polycystin-1 or polycystin-2, the proteins encoded by polycystic kidney disease 1 (<i>PKD1</i>) and <i>PKD2</i>, respectively, are the cause of autosomal dominant PKD (ADPKD). 31160911 2019
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
0.010 AlteredExpression disease BEFREE The present study provides evidence that H19 recruits CTCF to downregulate the expression of PKD1, thereby promoting vulnerable plaque formation and intraplaque angiogenesis in mice with atherosclerosis. 31757932 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: 5310
Gene Symbol: PKD1
PKD1
1.000 GeneticVariation disease BEFREE ADPKD is caused by mutations in the gene encoding either polycystic kidney disease 1 ( PKD1) or polycystic kidney disease 2 ( PKD2). 29475398 2018
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
1.000 GeneticVariation disease BEFREE Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common, potentially lethal, monogenic diseases and is caused predominantly by mutations in polycystic kidney disease 1 (PKD1) and PKD2, which encode polycystin 1 (PC1) and PC2, respectively. 30120380 2018
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
1.000 Biomarker disease BEFREE Human conditionally immortalized Proximal Tubular Epithelial cells (ciPTEC) with stable knockdown of PKD1 (ciPTEC-PC1KD) and ciPTEC generated from an ADPKD1 patient (ciPTEC-PC1Pt) were used as experimental tools. 29632324 2018
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
0.300 GeneticVariation disease BEFREE ADPKD is caused by mutations in the gene encoding either polycystic kidney disease 1 ( PKD1) or polycystic kidney disease 2 ( PKD2). 29475398 2018
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
0.300 GeneticVariation disease BEFREE Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common, potentially lethal, monogenic diseases and is caused predominantly by mutations in polycystic kidney disease 1 (PKD1) and PKD2, which encode polycystin 1 (PC1) and PC2, respectively. 30120380 2018
Entrez Id: 948
Gene Symbol: CD36
CD36
0.020 AlteredExpression disease BEFREE We observed that VEGF/PKD-1 signaling axis significantly stimulated the expression of arteriogenic genes and promoted EC proliferation, along with downregulation of CD36 expression. 29380239 2018
Entrez Id: 594857
Gene Symbol: NPS
NPS
0.010 AlteredExpression disease BEFREE Of note, NPS-R568 treatment significantly reduced intracellular cAMP and mTOR activity in ciPTEC-PC1KD and ciPTEC-PC1Pt. 29632324 2018
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.010 Biomarker disease BEFREE We observed that VEGF/PKD-1 signaling axis significantly stimulated the expression of arteriogenic genes and promoted EC proliferation, along with downregulation of CD36 expression. 29380239 2018
Entrez Id: 56950
Gene Symbol: SMYD2
SMYD2
0.010 Biomarker disease BEFREE Targeting SMYD2 with its specific inhibitor, AZ505, delayed cyst growth in both early- and later-stage Pkd1 conditional knockout mouse models. 28604386 2017
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
1.000 GeneticVariation disease CLINVAR Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease. 26139440 2016
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
1.000 Biomarker disease BEFREE Among the patients included, 221 (50.9%) had truncating PKD1 (PKD1-T), 141 (32.5%) nontruncating PKD1 (PKD1-NT) and 72 (16.6%) PKD2 mutations. 26932689 2016
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
1.000 CausalMutation disease CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
0.300 GeneticVariation disease BEFREE Annualized median liver growth rates were 1.68, 1.5 and 1.24% for PKD1-T, PKD1-NT and PKD2 mutations, respectively (P = 0.49), and remained unaffected by the ADPKD genotype when adjusted for age, gender and baseline HtLV. 26932689 2016
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
0.300 GeneticVariation disease BEFREE Forty patients occurred in 39 families with known ADPKD and were associated with PKD1 mutation in 36 families and with PKD2 mutation in two families (no mutation identified in one family). 26139440 2016
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
0.300 Biomarker disease BEFREE Autosomal dominant polycystic kidney disease (ADPKD) is a signalopathy of renal tubular epithelial cells caused by naturally occurring mutations in two distinct genes, polycystic kidney disease 1 (PKD1) and 2 (PKD2). 27199453 2016
Entrez Id: 5587
Gene Symbol: PRKD1
PRKD1
0.030 GeneticVariation disease BEFREE Genetic variants in PKD1, which encodes the polycystin-1 (PC-1) protein, remain the predominant factor associated with the pathogenesis of nearly two-thirds of all patients diagnosed with PKD. 27199453 2016
Entrez Id: 948
Gene Symbol: CD36
CD36
0.020 AlteredExpression disease BEFREE Lysophosphatidic acid, a phospholipid signaling mediator, abolishes endothelial cell responses to antiangiogenic proteins containing thrombospondin type 1 homology domains by downregulating endothelial CD36 transcription via protein kinase D1 (PKD-1) signaling. 27013613 2016
Entrez Id: 353
Gene Symbol: APRT
APRT
0.010 AlteredExpression disease BEFREE We also found that tubacin reduced cyst growth by inhibiting proliferation of cyst-lining epithelial cells, downregulated cyclic AMP levels, and improved renal function in a Pkd1-conditional mouse model of ADPKD. 27165822 2016
Entrez Id: 51564
Gene Symbol: HDAC7
HDAC7
0.010 Biomarker disease BEFREE Lysophosphatidic acid/PKD-1 signaling leads to nuclear accumulation of histone deacetylase 7, where it interacts with forkhead box protein O1 to suppress endothelial CD36 transcription and mediates silencing of antiangiogenic switch, resulting in proangiogenic and proarteriogenic reprogramming. 27013613 2016
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
0.010 GeneticVariation disease BEFREE Few patients have been reported carrying, in addition to the familial mutation, variation(s) in polycystic kidney disease 1 (PKD1) or HNF1 homeobox B (HNF1B), inherited from the unaffected parent, or biallelic polycystic kidney and hepatic disease 1 (PKHD1) mutations. 26139440 2016
Entrez Id: 1948
Gene Symbol: EFNB2
EFNB2
0.010 AlteredExpression disease BEFREE A mouse tumor angiogenesis model revealed enhanced PKD-1 signaling and expression of ephrin B2 and smooth muscle actin in neovessels of Lewis Lung Carcinomas, along with low-CD36 expression or CD36 deficiency. 27013613 2016
Entrez Id: 4236
Gene Symbol: MFAP1
MFAP1
0.010 AlteredExpression disease BEFREE We also found that tubacin reduced cyst growth by inhibiting proliferation of cyst-lining epithelial cells, downregulated cyclic AMP levels, and improved renal function in a Pkd1-conditional mouse model of ADPKD. 27165822 2016