Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
PARKINSONISM WITH SPASTICITY, X-LINKED
0.710 AlteredExpression disease BEFREE Reduction of the full-size ATP6AP2 transcript in XPDS cells and decreased level of ATP6AP2 protein in XPDS brain may compromise V-ATPase function, as seen with siRNA knockdown in HEK293 cells, and may ultimately be responsible for the pathology. 23595882 2013
PARKINSONISM WITH SPASTICITY, X-LINKED
0.710 GermlineCausalMutation disease ORPHANET Reduction of the full-size ATP6AP2 transcript in XPDS cells and decreased level of ATP6AP2 protein in XPDS brain may compromise V-ATPase function, as seen with siRNA knockdown in HEK293 cells, and may ultimately be responsible for the pathology. 23595882 2013
PARKINSONISM WITH SPASTICITY, X-LINKED
0.710 Biomarker disease GENOMICS_ENGLAND Reduction of the full-size ATP6AP2 transcript in XPDS cells and decreased level of ATP6AP2 protein in XPDS brain may compromise V-ATPase function, as seen with siRNA knockdown in HEK293 cells, and may ultimately be responsible for the pathology. 23595882 2013
PARKINSONISM WITH SPASTICITY, X-LINKED
0.710 Biomarker disease GENOMICS_ENGLAND Reduction of the full-size ATP6AP2 transcript in XPDS cells and decreased level of ATP6AP2 protein in XPDS brain may compromise V-ATPase function, as seen with siRNA knockdown in HEK293 cells, and may ultimately be responsible for the pathology. 23595882 2013
PARKINSONISM WITH SPASTICITY, X-LINKED
0.710 Biomarker disease GENOMICS_ENGLAND Reduction of the full-size ATP6AP2 transcript in XPDS cells and decreased level of ATP6AP2 protein in XPDS brain may compromise V-ATPase function, as seen with siRNA knockdown in HEK293 cells, and may ultimately be responsible for the pathology. 23595882 2013
PARKINSONISM WITH SPASTICITY, X-LINKED
0.710 Biomarker disease CTD_human
PARKINSONISM WITH SPASTICITY, X-LINKED
0.710 CausalMutation disease CLINVAR
Mental Retardation, X-Linked, with Epilepsy
0.700 Biomarker disease GENOMICS_ENGLAND Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). 23595882 2013
Mental Retardation, X-Linked, with Epilepsy
0.700 Biomarker disease GENOMICS_ENGLAND Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). 23595882 2013
Mental Retardation, X-Linked, with Epilepsy
0.700 Biomarker disease GENOMICS_ENGLAND Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). 23595882 2013
Mental Retardation, X-Linked, with Epilepsy
0.700 GermlineCausalMutation disease ORPHANET A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor. 15746149 2005
Mental Retardation, X-Linked, with Epilepsy
0.700 Biomarker disease GENOMICS_ENGLAND Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4. 11782983 2002
Mental Retardation, X-Linked, with Epilepsy
0.700 Biomarker disease CTD_human
Mental Retardation, X-Linked, with Epilepsy
0.700 CausalMutation disease CLINVAR
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.300 Biomarker group BEFREE Downregulated microRNA‑133a induces HUVECs injury: Potential role of the (pro) renin receptor in angiotensin II‑dependent hypertension. 31524252 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.300 Biomarker group BEFREE Aortic constriction induces hypertension and cardiac hypertrophy via (pro)renin receptor activation and the PLC‑β3 signaling pathway. 30431106 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.300 AlteredExpression group BEFREE Soluble (pro)renin receptor [s(P)RR], which is generated from cleavage of (P)RR, can be detected in plasma and urine. s(P)RR levels can reflect the severity of some diseases, such as renal lesions, gestational diabetes mellitus or hypertension, and obstructive sleep apnea syndrome. 29660382 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.300 Biomarker group BEFREE <b>NEW & NOTEWORTHY</b> PRR knockdown in PVN neurons attenuates the development of DOCA-salt hypertension and autonomic dysfunction through a decrease in ERK1/2 activation in the PVN and RVLM during hypertension. 30925093 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.300 Biomarker group BEFREE A Poisson regression model showed that histories of diabetes and hypertension were associated with a larger number of teeth with a PPD ≥5 mm (diabetes: prevalence rate ratio [PRR] 1.36, 95% confidence interval [CI] 1.00-1.85; hypertension: PRR 1.27, 95% CI 1.02-1.58) after adjusting for potential periodontal risk factors. 31217373 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.300 AlteredExpression group BEFREE The aim of the present study was to explore the mechanisms of depression and hypertension by examining the expression and interaction of renin/prorenin receptor (PRR) and heme oxygenase 1 (HO-1) in vascular endothelial cells. 31410134 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.300 Biomarker group BEFREE In addition, the (P)RR has been reported to contribute to the pathogenesis of diseases such as fibrosis, hypertension, pre-eclampsia, diabetic microangiopathy, acute kidney injury, cardiovascular disease, cancer and obesity. 31164719 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.300 Biomarker group BEFREE Herein, we review PRR function in health and disease, with particular emphasis on hypertension and the metabolic syndrome. 30819554 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.300 Biomarker group BEFREE Here, we examined the expression level and cellular distribution of PRR in the SFO of postmortem human brains to assess its association with the pathogenesis of human hypertension. 29351470 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.300 Biomarker group BEFREE This review concludes with a unifying concept proposing the blood origin of angiotensin in the brain, possibly resulting in increased levels following blood-brain barrier disruption (e.g. due to hypertension), and suggesting that interfering with either intracellular renin or the (pro)renin receptor has consequences in an RAS-independent manner. 29712882 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.300 AlteredExpression group BEFREE In ANG II-induced hypertension, there is increased expression of the prorenin receptor (PRR) in the collecting duct (CD), which has been implicated in the stimulation of the sodium transporters and resultant hypertension. 28814438 2017