Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.100 GeneticVariation disease BEFREE Homozygous Pkd1-targeted deletion in WD-derived tissues resulted in mice with large cystic kidneys and serologic evidence of renal failure. 31412963 2020
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.100 Biomarker disease BEFREE We generated zebrafish mutants for pkd1 and noted cystic kidney and mTOR activation in pkd1a mutants, suggesting a conserved ADPKD model. 28007903 2017
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.100 AlteredExpression disease BEFREE Here, we showed that the overexpression of CFB in cystic kidneys is associated with increased JAK2/STAT1 activity and enhanced expression of the polycystin-1 C-terminal tail (PC1-CTT). 26984954 2016
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.100 Biomarker disease BEFREE Although the relationship between defective PC-1 with renal cystic disease initiation and progression remains to be fully elucidated, there are numerous clinical studies that have focused upon the control of effector systems involving heterotrimeric G protein regulation. 27199453 2016
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.100 Biomarker disease BEFREE The present studies aim to examine whether and how cilia function (Pkd1 or Pkd2) and structure (Tg737) play a role in cystic kidney and aneurysm through survivin downregulation. 24235270 2014
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.100 GeneticVariation disease BEFREE Consistently, Ca(2+) oscillations and cell proliferation are increased in PC1-mutated kidney cystic cell lines, but both abnormal features are reduced in cells that exogenously express PC1. 18422703 2008
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.100 Biomarker disease BEFREE The severity of renal cystic disease in the major form of autosomal dominant polycystic kidney disease (PKD1) is highly variable. 11961010 2002
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.100 GeneticVariation disease BEFREE Recently, a deletion mutation disrupting both TSC2 and PKD1 has been described in young children with tuberous sclerosis complex with severe renal cystic disease. 11812941 2002
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.100 Biomarker disease BEFREE Major genes for tuberous sclerosis and autosomal dominant polycystic kidney disease, TSC2 and PKD1, respectively, lie adjacent to each other at chromosome 16p13.3, suggesting a role for PKD1 in the etiology of renal cystic disease in tuberous sclerosis. 9382094 1997
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.100 Biomarker disease BEFREE Pkd1- heterozygotes have no discernible phenotype, whereas homozygotes die during the perinatal period with massively enlarged cystic kidneys, pancreatic ductal cysts and pulmonary hypoplasia. 9326937 1997
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.100 GeneticVariation disease BEFREE The recent characterization of the PKD1 gene product and of other genes involved in murine polycystic models underscores the complexity of the pathways that lead to renal cystic disease. 8796859 1996