Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 358
Gene Symbol: AQP1
AQP1
0.010 AlteredExpression disease BEFREE AQP1, CFTR, and AE2 were localized preferentially to the apical membrane in normal rats while overexpressed at the basolateral membrane in PCK rats. 18988797 2008
Entrez Id: 282679
Gene Symbol: AQP11
AQP11
0.010 GeneticVariation disease BEFREE Interestingly, polycystic kidneys develop in AQP11-null mice. 26798062 2017
Entrez Id: 383
Gene Symbol: ARG1
ARG1
0.010 AlteredExpression disease BEFREE Multiple-stage macrophage depletion verified that macrophages expressing high ARG1 levels accounted for late-stage cyst enlargement, and inhibiting ARG1 activity significantly retarded cyst growth and effectively lowered the proliferative indices in polycystic kidneys. 30042193 2018
Entrez Id: 80114
Gene Symbol: BICC1
BICC1
0.010 Biomarker disease BEFREE Bicc1 links the regulation of cAMP signaling in polycystic kidneys to microRNA-induced gene silencing. 22641646 2012
Entrez Id: 57448
Gene Symbol: BIRC6
BIRC6
0.010 Biomarker disease BEFREE Six genes, baculoviral inhibitors of apoptosis protein repeat containing 6 (BIRC6), CD2, luteinizing hormone/choriogonadotropin receptor (LHCGR), polycystic kidney and hepatic disease gene 1 (PKHD1), phenylalanine hydroxylase (PAH) and fucosyltransferase 7 (FUT7), which might be associated with POAG, were identified. 24597656 2014
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B
0.010 Biomarker disease BEFREE Patients with the syndrome often develop Dandy-Walker complex and polycystic kidneys; implying a critical role of BUBR1 in morphogenesis. 21389084 2011
Entrez Id: 846
Gene Symbol: CASR
CASR
0.010 GeneticVariation disease BEFREE On the other hand, liver weight and biliary cystogenesis revealed no differences between PCK and FHH.Pkdh1, indicating that genes within the FHH genetic background prevent the development of renal, but not hepatic, manifestations of ARPKD. 22669842 2012
Entrez Id: 993
Gene Symbol: CDC25A
CDC25A
0.010 Biomarker disease BEFREE We examined effects of pharmacologic inhibition of Cdc25A with vitamin K3 (VK3) on the cell cycle, proliferation, and cyst expansion in vitro; hepato-renal cystogenesis in PCK rats and Pkd2(ws25/-)mice; and expression of Cdc25A and the cell-cycle proteins regulated by Cdc25A. 22155366 2012
Entrez Id: 201161
Gene Symbol: CENPV
CENPV
0.010 AlteredExpression disease BEFREE Comparisons of gene expression profiles in kidney tissues at P22 and P30 in PKD and WT mice revealed that arginine metabolism was significantly activated; 204 differentially expressed genes (DEGs), including <i>Arg1</i>, an arginine metabolism-associated gene, were identified in late-stage polycystic kidneys. 30042193 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.030 Biomarker disease BEFREE On the basis of these results we suggest that CFTR is a major mediator of forskolin-stimulated chloride and fluid secretion by epithelial cells of human polycystic kidneys in vitro. 8807590 1996
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.030 Biomarker disease BEFREE Exposure of the cholangiocyte basolateral membrane to CFTR inhibitors [5-nitro-2-(3-phenylpropylamino)-benzoic acid and CFTRinh172], or Cl(-)/HCO(3)(-) exchange inhibitors (4,4'-diisothiocyanatostilbene-2,2'-disulfonic acid disodium salt hydrate and 4-acetamido-4'-isothiocyanato-2,2'-stilbenedisulfonic acid disodium salt hydrate) blocked secretin-stimulated fluid accumulation in PCK but not in normal cysts. 18988797 2008
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.030 Biomarker disease BEFREE In addition, CFTR is responsible for Cl- secretion into the lumen of cysts in polycystic kidneys and, therefore, contributes to cyst enlargement. 9261986 1997
Entrez Id: 11261
Gene Symbol: CHP1
CHP1
0.010 GeneticVariation disease BEFREE Comparisons of gene expression profiles in kidney tissues at P22 and P30 in PKD and WT mice revealed that arginine metabolism was significantly activated; 204 differentially expressed genes (DEGs), including <i>Arg1</i>, an arginine metabolism-associated gene, were identified in late-stage polycystic kidneys. 30042193 2018
Entrez Id: 11258
Gene Symbol: DCTN3
DCTN3
0.010 GeneticVariation disease BEFREE Comparisons of gene expression profiles in kidney tissues at P22 and P30 in PKD and WT mice revealed that arginine metabolism was significantly activated; 204 differentially expressed genes (DEGs), including <i>Arg1</i>, an arginine metabolism-associated gene, were identified in late-stage polycystic kidneys. 30042193 2018
Entrez Id: 51726
Gene Symbol: DNAJB11
DNAJB11
0.010 GeneticVariation disease BEFREE WES identified a DNAJB11 missense variant (p.Pro54Arg) in two family members presenting with non-enlarged polycystic kidneys and a frameshifting change (c.166_167insTT) in a second family with small renal and liver cysts. 29706351 2018
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
0.010 GeneticVariation disease BEFREE Comparisons of gene expression profiles in kidney tissues at P22 and P30 in PKD and WT mice revealed that arginine metabolism was significantly activated; 204 differentially expressed genes (DEGs), including <i>Arg1</i>, an arginine metabolism-associated gene, were identified in late-stage polycystic kidneys. 30042193 2018
Entrez Id: 9844
Gene Symbol: ELMO1
ELMO1
0.010 Biomarker disease BEFREE In human samples, immunohistochemical staining of ELMO1 in nondiabetic, diabetic and polycystic kidneys localized ELMO1 in glomerular podocytes and in the tubules. 27849017 2016
Entrez Id: 2056
Gene Symbol: EPO
EPO
0.020 Biomarker disease BEFREE Erythropoietin in polycystic kidneys. 2794053 1989
Entrez Id: 2056
Gene Symbol: EPO
EPO
0.020 GeneticVariation disease BEFREE Gene therapy for renal anemia in mice with polycystic kidney using an adenovirus vector encoding the human erythropoietin gene. 10200985 1999
Entrez Id: 2252
Gene Symbol: FGF7
FGF7
0.010 AlteredExpression disease BEFREE Expression of keratinocyte growth factor in embryonic liver of transgenic mice causes changes in epithelial growth and differentiation resulting in polycystic kidneys and other organ malformations. 8668336 1996
Entrez Id: 57600
Gene Symbol: FNIP2
FNIP2
0.010 Biomarker disease BEFREE Recent studies indicated that FNIP1/FNIP2 double knockout mice display enlarged polycystic kidneys and renal carcinoma, which phenocopies FLCN knockout mice, suggesting that these two proteins function together to suppress renal cancer. 28039480 2017
Entrez Id: 2735
Gene Symbol: GLI1
GLI1
0.010 AlteredExpression disease BEFREE The treatment of PCK cholangiocytes with cyclopamine inhibited cell proliferative activity that was associated with the inhibition of nuclear translocation of Gli1 and Gli2, and reduced cyclin D1 expression. 30036521 2018
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
0.010 AlteredExpression disease BEFREE The treatment of PCK cholangiocytes with cyclopamine inhibited cell proliferative activity that was associated with the inhibition of nuclear translocation of Gli1 and Gli2, and reduced cyclin D1 expression. 30036521 2018
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
0.010 Biomarker disease BEFREE The nuclear expression of Gli1, Gli2, and Gli3 was observed in PCK cholangiocytes by immunocytochemistry. 30036521 2018
Entrez Id: 169792
Gene Symbol: GLIS3
GLIS3
0.300 Biomarker disease GENOMICS_ENGLAND Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. 16715098 2006