P2RX6, purinergic receptor P2X 6, 9127

N. diseases: 85; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0341106
Disease: Eosinophilic esophagitis
Eosinophilic esophagitis
0.100 GeneticVariation disease GWASCAT Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. 25017104 2014
CUI: C0027796
Disease: Neuralgia
Neuralgia
0.040 Biomarker phenotype BEFREE Purinergic receptor P2Y<sub>12</sub> (P2Y<sub>12</sub> ), a G protein-coupled purinergic receptor, is widely distributed in nervous system and involved in the progression of neurological diseases such as multiple sclerosis and neuropathic pain. 29341465 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE The effects of purinergic receptor stimulation or agonism tend to produce inflammatory responses that may aid immune stimulation but may also provoke various immune suppression mechanisms, particularly in the tumor microenvironment. 30209547 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE Preclinical studies in several tumour models have shown that P2X7R targeting is potentially a very effective anticancer treatment, and many pharmaceutical companies have now developed potent and selective small molecule inhibitors of P2X7R. 30006588 2018
CUI: C0027796
Disease: Neuralgia
Neuralgia
0.040 AlteredExpression phenotype BEFREE The present study demonstrated that dexmedetomidine attenuates the neuropathic pain induced by CCI of the sciatic nerve in rats by inhibiting spinal P2X7R expression and ERK phosphorylation, indicating the potential therapeutic implications of dexmedetomidine administration for the treatment of neuropathic pain. 30181689 2018
CUI: C0027796
Disease: Neuralgia
Neuralgia
0.040 Biomarker phenotype BEFREE We based this hypothesis on evidence that microglia preferentially contribute to neuropathic pain in male mice via ionotropic purinergic receptor (P2XR) or p38 mitogen-activated protein kinase (p38) signaling. 29913243 2018
CUI: C0027796
Disease: Neuralgia
Neuralgia
0.040 Biomarker phenotype BEFREE A role for the purinergic receptor P2X<sub>3</sub> in astrocytes in the mechanism of craniofacial neuropathic pain. 29051582 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE These results suggest that the efficacy of BBG in inhibiting tumor growth is primarily mediated by direct actions of the compound on P2X7R in glioma cells and that pharmacological inhibition of this purinergic receptor might serve as a strategy to slow the progression of brain tumors. 21157381 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 AlteredExpression group BEFREE We also looked for p53 mutations and mdm2 overexpression in the same panel of tumours and found them in 13 tumours, all but three of which had shown altered expression of P2XM. 10376970 1999
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.030 GeneticVariation disease BEFREE Genome-wide association analysis shows a strong association between narcolepsy and polymorphisms in the TCRα locus and weaker associations within TNFSF4 (also called OX40L), Cathepsin H and the P2RY11-DNMT1 (purinergic receptor subtype P2Y11 to DNMT1, a DNA methytransferase) loci, suggesting an autoimmune basis. 23497937 2013
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.030 GeneticVariation disease BEFREE Genome-wide association studies have strengthened the association between narcolepsy and immune system gene polymorphisms, including the identification of polymorphisms in the T cell receptor alpha locus, TNFSF4 (also called OX40L), Cathepsin H (CTSH) the purinergic receptor P2RY11, and the DNA methyltransferase DNMT1. 23725858 2013
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.030 GeneticVariation disease BEFREE We identify a SNP in the 3' untranslated region of P2RY11, the purinergic receptor subtype P2Y₁₁ gene, which is associated with narcolepsy (rs2305795, combined P = 6.1 × 10⁻¹⁰, odds ratio = 1.28, 95% CI 1.19-1.39, n = 5689). 21170044 2011
CUI: C0018801
Disease: Heart failure
Heart failure
0.020 AlteredExpression disease BEFREE Our results reveal a significant putative HCM causative gene, P2X7, for the first time and show that germ-line mutations in P2X7 may cause a defective phenotype, suggesting purinergic receptor involvement in heart failure mediated through arrhythmias which need further investigations to be targeted for therapeutic interventions. 31152337 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.020 AlteredExpression disease BEFREE Our results reveal a significant putative HCM causative gene, P2X7, for the first time and show that germ-line mutations in P2X7 may cause a defective phenotype, suggesting purinergic receptor involvement in heart failure mediated through arrhythmias which need further investigations to be targeted for therapeutic interventions. 31152337 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.020 AlteredExpression disease BEFREE In the neuroinflammatory foci of MS there is increased expression of a purinergic receptor, P2X7R. 30908981 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.020 Biomarker disease BEFREE Purinergic receptor P2Y<sub>12</sub> (P2Y<sub>12</sub> ), a G protein-coupled purinergic receptor, is widely distributed in nervous system and involved in the progression of neurological diseases such as multiple sclerosis and neuropathic pain. 29341465 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.020 AlteredExpression disease BEFREE Modulation of purinergic receptor subtypes, the activity of ectonucleotidases and ATP transporters could be beneficial in the treatment of PD. 31054067 2019
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction
0.020 Biomarker phenotype BEFREE These data suggest that endothelial dysfunction caused by exposure to acidic, non-buffered NS is associated with loss of membrane integrity, release of ATP, and is modulated by P2X7R-mediated inflammatory responses. 31412063 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation disease BEFREE Cutaneous vascular conductance and sweat rate were evaluated in 12 healthy non-diabetic older adults (Control, 60 ± 8 years) and 13 older adults with T2D (62 ± 10 years) at three intradermal forearm skin sites perfused with the following: (i) methacholine (muscarinic receptor agonist, five doses: 0.0125, 0.25, 5, 100 and 2000 mm); (ii) nicotine (nicotinic receptor agonist, five doses: 1.2, 3.6, 11, 33 and 100 mm); or (iii) ATP (purinergic receptor agonist, five doses: 0.03, 0.3, 3, 30 and 300 mm). 29210478 2018
Diabetes Mellitus, Non-Insulin-Dependent
0.020 Biomarker disease BEFREE Altered Purinergic Receptor Sensitivity in Type 2 Diabetes-Associated Endothelial Dysfunction and Up₄A-Mediated Vascular Contraction. 30544633 2018
CUI: C0029453
Disease: Osteopenia
Osteopenia
0.020 Biomarker disease BEFREE The purinergic receptor P2X5 contributes to bone loss in experimental periodontitis. 30103845 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.020 GeneticVariation disease BEFREE In neurological disorders with associated motor symptoms, including Parkinson's disease (PD), motor neuron diseases (MND), multiple sclerosis (MS), amyotrophic lateral sclerosis (ALS), Huntington's Disease (HD), restless leg syndrome (RLS), and ataxias, alterations in purinergic receptor expression and activity have been noted, indicating a potential role for this system in disease etiology and progression. 29692728 2018
Autosomal Recessive Polycystic Kidney Disease
0.020 AlteredExpression disease BEFREE Characterization of purinergic receptor expression in ARPKD cystic epithelia. 30417216 2018
CUI: C0150055
Disease: Chronic pain
Chronic pain
0.020 Biomarker phenotype BEFREE In mice and humans, the release of eATP during inflammation or injury stimulates both innate immune activation and chronic pain through the purinergic receptor P2RX7<sup>2-4</sup>. 29973721 2018
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
0.020 GeneticVariation group BEFREE Various studies have investigated whether single nucleotide polymorphisms (SNPs) in the gene purinergic receptor P2X7 (P2RX7), and rs2230912 specifically, were associated with mood disorders. 29122639 2018