Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.350 AlteredExpression disease BEFREE Immunohistochemical studies have shown that polycystin 1 and polycystin 2 are developmentally regulated and are overexpressed in polycystic kidneys. 9529618 1998
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.350 Biomarker disease BEFREE Homozygous Pkd1(nl) mice are viable, showing bilaterally enlarged polycystic kidneys. 15496422 2004
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.350 Biomarker disease BEFREE A contiguous gene syndrome involving PKD1 and TSC2 should be suspected in children with TSC and enlarged polycystic kidneys at birth. 9631851 1998
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.350 Biomarker disease BEFREE Here, we report a sustained activation of the transcription factor signal transducer and activator of transcription 3 (STAT3) in ischemic injured and uninjured Pkd1 knockout polycystic kidneys and in human ADPKD kidneys. 21821671 2011
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.350 GeneticVariation disease BEFREE Patients with TSC often develop renal cysts and those with inherited co-deletions of the autosomal dominant polycystic kidney disease (ADPKD) 1 gene (PKD1) develop severe, early onset, polycystic kidneys. 19321600 2009
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
0.060 GeneticVariation disease BEFREE Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p. 10607948 2000
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
0.060 Biomarker disease BEFREE Mutation in the Pkhd1 gene that encodes a ciliary protein, fibrocystin, causes multiple cysts in the kidneys and liver in the polycystic kidney (PCK) rat, a model for human autosomal recessive PCK disease. 22647734 2012
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
0.060 AlteredExpression disease BEFREE Microarray expression analysis of kidneys from 30-day-old PCK rats revealed increased expression of genes previously identified in PKD renal expression profiles, such as inflammatory response, extracellular matrix synthesis, and cell proliferation genes among others, whereas the FHH.Pkhd1 did not show activation of these common markers of disease. 22669842 2012
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
0.060 GeneticVariation disease BEFREE Mutations in PKHD1 (polycystic kidney and hepatic disease gene 1) gene cause the autosomal recessive polycystic kidney disease (ARPKD). 20709014 2010
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
0.060 GeneticVariation disease BEFREE Mutations in PKHD1 (polycystic kidney and hepatic disease gene 1) gene cause the autosomal recessive polycystic kidney disease (ARPKD). 21300060 2011
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
0.060 Biomarker disease BEFREE Mutation of the polycystic kidney and hepatic disease gene 1 (PKHD1) was identified as the cause of ARPKD. 19524688 2009
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: 5587
Gene Symbol: PRKD1
PRKD1
0.030 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: 5587
Gene Symbol: PRKD1
PRKD1
0.030 AlteredExpression disease BEFREE To overcome this problem, we previously demonstrated that folate-conjugated rapamycin (FC-rapa) targets polycystic kidneys due to the high expression of the folate receptor (FRα) and that treatment of a nonortholgous PKD mouse model leads to inhibition of renal cyst growth. 29717938 2018
Entrez Id: 5587
Gene Symbol: PRKD1
PRKD1
0.030 AlteredExpression disease BEFREE Microarray expression analysis of kidneys from 30-day-old PCK rats revealed increased expression of genes previously identified in PKD renal expression profiles, such as inflammatory response, extracellular matrix synthesis, and cell proliferation genes among others, whereas the FHH.Pkhd1 did not show activation of these common markers of disease. 22669842 2012
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: 2056
Gene Symbol: EPO
EPO
0.020 Biomarker disease BEFREE Erythropoietin in polycystic kidneys. 2794053 1989
Entrez Id: 4601
Gene Symbol: MXI1
MXI1
0.020 PosttranslationalModification disease BEFREE These results indicate that expression of proteins related with inflammation and renal fibrosis changes by Mxi1 inactivation in polycystic kidney. 19637234 2009
Entrez Id: 6343
Gene Symbol: SCT
SCT
0.020 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: 5311
Gene Symbol: PKD2
PKD2
0.020 Biomarker disease BEFREE In PCK rats and Pkd2(ws25/-) mice, VK3 reduced liver and kidney weights and hepato-renal cystic and fibrotic areas by 18%-34%. 22155366 2012
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: 5311
Gene Symbol: PKD2
PKD2
0.020 AlteredExpression disease BEFREE Immunohistochemical studies have shown that polycystin 1 and polycystin 2 are developmentally regulated and are overexpressed in polycystic kidneys. 9529618 1998
Entrez Id: 6343
Gene Symbol: SCT
SCT
0.020 Biomarker disease BEFREE Pancreatic fluid secretion stimulated with a physiological dose of secretin (0.03 nmol/kg per hour) in PCK rats was significantly smaller than that in WT, but the differences were not significant at higher doses. 22647734 2012
Entrez Id: 4601
Gene Symbol: MXI1
MXI1
0.020 AlteredExpression disease BEFREE Inactivation of Mxi1 induces Il-8 secretion activation in polycystic kidney. 17350592 2007