Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3887499
Disease: Renal cyst
Renal cyst
0.200 GeneticVariation phenotype BEFREE Three hTERT-immortalized RC cell lines were characterized as proximal epithelial cells with germline and somatic PKD1 mutations. 31186083 2019
CUI: C3887499
Disease: Renal cyst
Renal cyst
0.200 Biomarker phenotype BEFREE Previous studies have demonstrated that further postnatal reductions in PKD1 (or PKD2) dose are required for kidney cyst formation, but the exact triggering factors are not clear. 31767049 2019
CUI: C3887499
Disease: Renal cyst
Renal cyst
0.200 Biomarker phenotype BEFREE Mutations in polycystin-1 (PC1) and polycystin-2 (PC2) result in a commonly occurring genetic disorder, called Autosomal Dominant Polycystic Kidney Disease (ADPKD), that is characterized by the formation and development of kidney cysts. 28601384 2018
CUI: C3887499
Disease: Renal cyst
Renal cyst
0.200 AlteredExpression phenotype BEFREE Growing evidence supports the theory that the severity and rate of progression of kidney cysts is correlated with the level of functional PC1 expressed in the primary cilia. 30073588 2018
CUI: C3887499
Disease: Renal cyst
Renal cyst
0.200 GeneticVariation phenotype BEFREE We have recently shown in the Pkd1 mouse that Gen 2 antisense oligonucleotide (ASO), which suppresses angiotensinogen (Agt) synthesis, is efficacious in slowing kidney cyst formation compared with lisinopril. 29021226 2018
CUI: C3887499
Disease: Renal cyst
Renal cyst
0.200 GeneticVariation phenotype BEFREE SMYD2 deficiency delayed renal cyst growth in postnatal kidneys from Pkd1 mutant mice. 28604386 2017
CUI: C3887499
Disease: Renal cyst
Renal cyst
0.200 GeneticVariation phenotype BEFREE Unique somatic mutations in PKD1 were also detected in 80% of the renal cysts analyzed, but not in the pRCC. 26718059 2016
CUI: C3887499
Disease: Renal cyst
Renal cyst
0.200 Biomarker phenotype BEFREE Interaction of polycystin-1 (PC1) and Gα12 is important for development of kidney cysts in autosomal dominant polycystic kidney disease (ADPKD). 25492927 2015
CUI: C3887499
Disease: Renal cyst
Renal cyst
0.200 GeneticVariation phenotype BEFREE Mutations of PKD1 cause autosomal dominant polycystic kidney disease (ADPKD), a syndrome characterized by kidney cysts and progressive renal failure. 19331813 2009
CUI: C3887499
Disease: Renal cyst
Renal cyst
0.200 GeneticVariation phenotype 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
CUI: C3887499
Disease: Renal cyst
Renal cyst
0.200 Biomarker phenotype BEFREE The PKD1 children had, in comparison with those with PKD2, significantly greater total of renal cysts (13.3 +/- 12.5 vs 3.0 +/- 2.1, P = 0.004), larger kidneys [right/left kidney length 0.89 +/- 1.22 standard deviation score (SDS) vs 0.17 +/- 1.03 SDS, P = 0.045, and 1.19 +/- 1.42 SDS vs 0.12 +/- 1.09 SDS, P = 0.014, successively] and higher ambulatory day-time and night-time systolic BP (day-time/night-time BP index 0.93 +/- 0.10 vs 0.86 +/- 0.05, P = 0.021 and 0.94 +/- 0.07 vs 0.89 +/- 0.04, P = 0.037, successively). 19194729 2009
CUI: C3887499
Disease: Renal cyst
Renal cyst
0.200 Biomarker phenotype BEFREE The formation of renal cysts in ADPKD has been attributed to dysfunction of primary cilia and the primary cilia-related proteins polycystin-1 (in 85% of cases) and polycystin-2 in renal epithelial cells. 18263686 2008
CUI: C3887499
Disease: Renal cyst
Renal cyst
0.200 GeneticVariation phenotype BEFREE Genotype/phenotype analysis showed that all (21 of 21) patients with TSC2 deletions extending 3' into the PKD1 gene had kidney cysts. 17287951 2007
CUI: C3887499
Disease: Renal cyst
Renal cyst
0.200 Biomarker phenotype BEFREE Daily administration of AG825 to PKD1 null heterozygous mice significantly inhibited the development of renal cysts. 16797938 2006
CUI: C3887499
Disease: Renal cyst
Renal cyst
0.200 GeneticVariation phenotype BEFREE The PKD1 and PKD2 genes are mutated in patients with autosomal dominant polycystic kidney disease (ADPKD), a systemic disease, with the formation of renal cysts as main clinical feature. 15770226 2005
CUI: C3887499
Disease: Renal cyst
Renal cyst
0.200 GeneticVariation phenotype BEFREE We have previously shown that in the case of PKD1, renal cyst development is likely to require somatic inactivation of the normal allele coupled to a germline PKD1 mutation. 9734362 1998
CUI: C3887499
Disease: Renal cyst
Renal cyst
0.200 Biomarker phenotype BEFREE In 2 families in which ADPKD is not co-inherited with PKD1 markers, only 11% of members aged less than 30 years had kidney cysts. 1605247 1992
CUI: C3887499
Disease: Renal cyst
Renal cyst
0.200 GeneticVariation phenotype BEFREE All subjects over the age of 30 years carrying a mutation at the PKD1 locus showed renal ultrasonographic cysts, but 40% of carriers of the PKD1 mutation younger than 30 years did not have renal cysts. 1583643 1992
CUI: C3887499
Disease: Renal cyst
Renal cyst
0.200 GeneticVariation phenotype BEFREE Forty of 48 members (83 percent) less than 30 years old who inherited the PKD1 mutation had renal cysts. 2215575 1990
CUI: C3887499
Disease: Renal cyst
Renal cyst
0.200 GeneticVariation phenotype CLINVAR