Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.200 GeneticVariation group BEFREE Additionally, body mass index (BMI), FMD, PKD1 truncating mutation, endothelin and triglyceride levels were independently associated with hypertension. 30022320 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.200 GeneticVariation group BEFREE We conducted a longitudinal retrospective cohort study to assess the association between sex of the affected parent and time to hypertension diagnosis, end-stage renal disease (ESRD), and death in patients with the PKD1 genotype. 29035198 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.200 GeneticVariation group BEFREE In the post hoc analysis, PKD1 and PKD2 were screened in 770 subjects and the PROPKD score was calculated in mutation-positive subjects (male: 1 point; hypertension <35 years: 2 points; first urologic event <35 years: 2 points; nontruncating PKD1 mutation: 2 points; truncating PKD1 mutation: 4 points). 28992127 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.200 GeneticVariation group BEFREE Hypertension and aneurysm are frequently associated with autosomal dominant polycystic kidney disease (ADPKD) caused by polycystin-1 (PC1) mutations, which is closely related to endothelial dysfunction. 29472562 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.200 Biomarker group BEFREE To elucidate their pathogenesis, we analyzed the cardiac phenotype in Pkd1(cond/cond)Nestin(cre) (CYG+) cystic mice exposed to increased blood pressure, at 5 to 6 and 20 to 24 weeks of age, and Pkd1(+/-) (HTG+) noncystic mice at 5-6 and 10-13 weeks. 27475230 2016
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.200 GeneticVariation group BEFREE These factors include PKD1 mutation (particularly truncating mutation), men, early onset of hypertension, early and frequent gross hematuria, and among women, three or more pregnancies. 24925719 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.200 GeneticVariation group BEFREE Prenatal renal cysts (14%), hypertension defined by ambulatory BP (27%) and enlarged kidneys (32%) were observed only in the PKD1 children. 19194729 2009
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.200 Biomarker group BEFREE In PKD1 median age to hypertension treatment was 46 yr, to CKD stage 3 was 50 yr, to ESRD was 53 yr, and to death was 67 yr. 17699277 2006
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.200 GeneticVariation group BEFREE ADPKD, often caused by mutations in the PKD1 gene, is associated with life-threatening vascular abnormalities that are commonly attributed to the frequent occurrence of hypertension. 15545151 2004
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.200 GeneticVariation group BEFREE We conclude that the interaction between the K121Q polymorphism of the PC-1 gene and birth length affects insulin sensitivity and increases susceptibility to type 2 diabetes and hypertension in adulthood. 15126519 2004
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.200 GeneticVariation group BEFREE Autosomal dominant polycystic kidney disease (ADPKD), often caused by mutations in the PKD1 gene, is associated with life-threatening vascular abnormalities that are commonly attributed to the frequent occurrence of hypertension. 10677526 2000
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.200 GeneticVariation group CLINVAR
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.200 Biomarker group HPO
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.200 CausalMutation group CLINVAR