Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.900 Biomarker disease MGD We show further that del34 homozygotes continue to produce mutant polycystin-1, thereby providing a possible explanation for increased immunoreactive polycystin-1 in ADPKD cyst epithelia in the context of the two-hit model. 11689485 2001
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE We screened for mutations in PKD1 and PKD2 with HRM in 37 unrelated patients with ADPKD. 22008521 2011
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.900 GeneticVariation disease BEFREE We screened for mutations in PKD1 and PKD2 with HRM in 37 unrelated patients with ADPKD. 22008521 2011
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: 5310
Gene Symbol: PKD1
PKD1
0.900 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: 5310
Gene Symbol: PKD1
PKD1
0.900 GeneticVariation disease BEFREE We report the case of a 32-year-old male diagnosed with TSC2/PKD1 contiguous gene syndrome, presenting with tuberous sclerosis (TS) and autosomal dominant polycystic kidney disease simultaneously. 27595512 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: 5589
Gene Symbol: PRKCSH
PRKCSH
0.030 GeneticVariation disease BEFREE We report here a family (a mother and her daughter) with a severe form of ADPLD not associated with ADPKD produced by a novel missense protein kinase C substrate 80K-H (PRKCSH) mutation (R281W). 16437702 2005
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 CausalMutation disease CLINVAR We report a systematic screening for mutations covering the 15 exons of the PKD2 gene in eight unrelated families with ADPKD type 2, using the heteroduplex technique. 10411676 1999
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE We report a systematic screening for mutations covering the 15 exons of the PKD2 gene in eight unrelated families with ADPKD type 2, using the heteroduplex technique. 10411676 1999
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 Biomarker disease CLINGEN We report a systematic screening for mutations covering the 15 exons of the PKD2 gene in eight unrelated families with ADPKD type 2, using the heteroduplex technique. 10411676 1999
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: 1080
Gene Symbol: CFTR
CFTR
0.090 GeneticVariation disease BEFREE We previously reported that two patients with ADPKD coexisting with cystic fibrosis (CF) had a milder cystic phenotype than that of kindred without CFTR mutations. 17048214 2006
Entrez Id: 1366
Gene Symbol: CLDN7
CLDN7
0.020 Biomarker disease BEFREE We postulate that the role of claudin-7 in ADPKD is to seal the paracellular route in Cl(-)-secreting cyst epithelium, preventing backleak of Cl(-), and that it thereby plays a permissive role in fluid secretion and cyst growth. 18666097 2008
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: 1950
Gene Symbol: EGF
EGF
0.060 Biomarker disease BEFREE We now show by microarray analysis, luciferase assay, mutagenesis, and chromatin immunoprecipitation that CREB and AP1 contribute to increased expression of the amphiregulin gene, which codifies for an epidermal growth factor-like peptide, in ADPKD cystic cells, thereby promoting their cell growth. 22570239 2012
Entrez Id: 2353
Gene Symbol: FOS
FOS
0.020 AlteredExpression disease BEFREE We now show by microarray analysis, luciferase assay, mutagenesis, and chromatin immunoprecipitation that CREB and AP1 contribute to increased expression of the amphiregulin gene, which codifies for an epidermal growth factor-like peptide, in ADPKD cystic cells, thereby promoting their cell growth. 22570239 2012
Entrez Id: 3727
Gene Symbol: JUND
JUND
0.020 AlteredExpression disease BEFREE We now show by microarray analysis, luciferase assay, mutagenesis, and chromatin immunoprecipitation that CREB and AP1 contribute to increased expression of the amphiregulin gene, which codifies for an epidermal growth factor-like peptide, in ADPKD cystic cells, thereby promoting their cell growth. 22570239 2012
Entrez Id: 3725
Gene Symbol: JUN
JUN
0.020 AlteredExpression disease BEFREE We now show by microarray analysis, luciferase assay, mutagenesis, and chromatin immunoprecipitation that CREB and AP1 contribute to increased expression of the amphiregulin gene, which codifies for an epidermal growth factor-like peptide, in ADPKD cystic cells, thereby promoting their cell growth. 22570239 2012
Entrez Id: 2354
Gene Symbol: FOSB
FOSB
0.020 AlteredExpression disease BEFREE We now show by microarray analysis, luciferase assay, mutagenesis, and chromatin immunoprecipitation that CREB and AP1 contribute to increased expression of the amphiregulin gene, which codifies for an epidermal growth factor-like peptide, in ADPKD cystic cells, thereby promoting their cell growth. 22570239 2012
Entrez Id: 3726
Gene Symbol: JUNB
JUNB
0.020 AlteredExpression disease BEFREE We now show by microarray analysis, luciferase assay, mutagenesis, and chromatin immunoprecipitation that CREB and AP1 contribute to increased expression of the amphiregulin gene, which codifies for an epidermal growth factor-like peptide, in ADPKD cystic cells, thereby promoting their cell growth. 22570239 2012
Entrez Id: 1385
Gene Symbol: CREB1
CREB1
0.010 AlteredExpression disease BEFREE We now show by microarray analysis, luciferase assay, mutagenesis, and chromatin immunoprecipitation that CREB and AP1 contribute to increased expression of the amphiregulin gene, which codifies for an epidermal growth factor-like peptide, in ADPKD cystic cells, thereby promoting their cell growth. 22570239 2012
Entrez Id: 966
Gene Symbol: CD59
CD59
0.010 Biomarker disease BEFREE We now report that forskolin, which stimulates adenylate cyclase, increased the efflux rate constant for 36Cl in monolayers of ADPKD cells in vitro from 0.23 +/- 0.02 min-1 to 0.44 +/- 0.05 min-1 (N = 4) and that diphenylamine 2-carboxylate (DPC), which blocks chloride channels, eliminated the forskolin-stimulated chloride efflux from these cells. 8807590 1996
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 GeneticVariation disease BEFREE We measured the K0.5 of the interaction between the C-terminal tails of PC1 and PC2 and showed that the direct interaction of these proteins is abrogated by a PC1 point mutation that was identified in ADPKD patients. 19726544 2009
Entrez Id: 8516
Gene Symbol: ITGA8
ITGA8
0.010 GeneticVariation disease BEFREE We investigated whether the -414 T/C polymorphism in the promoter region of the alpha 8 integrin chain gene (ITGA8) is associated with the progression of renal disease in ADPKD. 18277079 2008