Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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
Entrez Id: 3791
Gene Symbol: KDR
KDR
0.010 Biomarker disease BEFREE In summary, we described a novel function of a multiple kinase inhibitor which strongly inhibits the VEGFR2-PKD1 signaling and might be a novel inhibitor of pathological inflammatory pathways. 25874616 2015
Entrez Id: 1958
Gene Symbol: EGR1
EGR1
0.010 AlteredExpression disease BEFREE Conversely, in EGR1 short hairpin RNA lentivirally transduced THP-1 cells, reduced EGR1 led to a significant up-regulation of PKD1, especially after treatment with pioglitazone. 26113112 2015
Entrez Id: 213
Gene Symbol: ALB
ALB
0.010 GeneticVariation disease BEFREE Examples of such pClasper mediated gene modifications include: Claspette-mediated capture of large-insert genomic fragments from BACs-human polycystic kidney disease-1 (PKD1); modification of pClasperA clones by the RareGap method-PKD1 mutations; Claspette-mediated modification of pClasper clones-mouse albumin-1 gene; and, of most relevance to our interest in lymph node vasculature-Claspimer-mediated modification of pClasper clones-high endothelial venule and lymphatic vessel genes. 20961307 2010
Entrez Id: 24147
Gene Symbol: FJX1
FJX1
0.010 AlteredExpression disease BEFREE Indeed, we show here that in Pkd1 conditional deletion mice expression of the PCP component Four-jointed (Fjx1) is decreased while its expression is required during tissue regeneration. 19401297 2009
Entrez Id: 727677
Gene Symbol: CASC8
CASC8
0.010 GeneticVariation disease BEFREE Relevant conditions were inherited cancer susceptibility (8), Huntington disease (3), hereditary hemochromatosis (1), and polycystic kidney disease (1). 19287242 2009
Entrez Id: 7352
Gene Symbol: UCP3
UCP3
0.010 GeneticVariation disease BEFREE Multivariable logistic regression analysis with adjustment for conventional risk factors revealed that the -572G-->C polymorphism of the interleukin-6 (IL-6) gene (IL6) was significantly (P<0.001) associated with both atherothrombotic cerebral infarction and intracerebral hemorrhage and that the -55C-->T polymorphism of the uncoupling protein 3 gene (UCP3), the -863C-->A polymorphism of the tumor necrosis factor (TNF) gene (TNF), and the G-->A (Gly243Asp) polymorphism of the polycystic kidney disease 1-like gene (PKD1-like) were significantly associated with subarachnoid hemorrhage. 16741147 2006
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.010 GeneticVariation disease BEFREE Multivariable logistic regression analysis with adjustment for conventional risk factors revealed that the -572G-->C polymorphism of the interleukin-6 (IL-6) gene (IL6) was significantly (P<0.001) associated with both atherothrombotic cerebral infarction and intracerebral hemorrhage and that the -55C-->T polymorphism of the uncoupling protein 3 gene (UCP3), the -863C-->A polymorphism of the tumor necrosis factor (TNF) gene (TNF), and the G-->A (Gly243Asp) polymorphism of the polycystic kidney disease 1-like gene (PKD1-like) were significantly associated with subarachnoid hemorrhage. 16741147 2006
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.010 GeneticVariation disease BEFREE Multivariable logistic regression analysis with adjustment for conventional risk factors revealed that the -572G-->C polymorphism of the interleukin-6 (IL-6) gene (IL6) was significantly (P<0.001) associated with both atherothrombotic cerebral infarction and intracerebral hemorrhage and that the -55C-->T polymorphism of the uncoupling protein 3 gene (UCP3), the -863C-->A polymorphism of the tumor necrosis factor (TNF) gene (TNF), and the G-->A (Gly243Asp) polymorphism of the polycystic kidney disease 1-like gene (PKD1-like) were significantly associated with subarachnoid hemorrhage. 16741147 2006
Entrez Id: 4846
Gene Symbol: NOS3
NOS3
0.010 AlteredExpression disease BEFREE Although the D298 ENOS allele may be associated with lower vascular activity of eNOS, this did not correlate with severity of renal disease in this PKD1 population. 12500225 2003
Entrez Id: 11073
Gene Symbol: TOPBP1
TOPBP1
0.010 AlteredExpression disease BEFREE Some of these alterations suggest mechanisms by which HGF/SF may exert its protective activity, e.g., up-regulation of polycystic kidney disease-1 (a survival-promoting component of cadherin-catenin complexes), down-regulation of 51C (an inositol polyphosphate-5-phosphatase), and down-regulation of TOPBP1 (a topoisomerase IIB binding protein). 11691828 2001
Entrez Id: 7155
Gene Symbol: TOP2B
TOP2B
0.010 AlteredExpression disease BEFREE Some of these alterations suggest mechanisms by which HGF/SF may exert its protective activity, e.g., up-regulation of polycystic kidney disease-1 (a survival-promoting component of cadherin-catenin complexes), down-regulation of 51C (an inositol polyphosphate-5-phosphatase), and down-regulation of TOPBP1 (a topoisomerase IIB binding protein). 11691828 2001
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.010 GeneticVariation disease BEFREE This study strongly suggests that PKD 1 patients homozygous for the deletion allele of the ACE gene are at increased risk of developing ESRF at a early age. 9291178 1997
Entrez Id: 2671
Gene Symbol: GFER
GFER
0.010 Biomarker disease BEFREE A new human gene located in the PKD1 region of chromosome 16 is a functional homologue to ERV1 of yeast. 8575761 1995
Entrez Id: 5037
Gene Symbol: PEBP1
PEBP1
0.010 GeneticVariation disease BEFREE Further mutations of the PBP gene were found in PKD1 patients, two deletions (one a de novo event) and a splicing defect, confirming that PBP is the PKD1 gene. 8004675 1994
Entrez Id: 5469
Gene Symbol: MED1
MED1
0.010 GeneticVariation disease BEFREE Further mutations of the PBP gene were found in PKD1 patients, two deletions (one a de novo event) and a splicing defect, confirming that PBP is the PKD1 gene. 8004675 1994