P2RX7, purinergic receptor P2X 7, 5027

N. diseases: 337; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.320 GeneticVariation disease UNIPROT
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia 		0.010 Biomarker disease BEFREE Chronic treatment with P2-purinergic receptor agonists induces phenotypic modulation of the HL-60 and U937 human myelogenous leukemia cell lines. 1649238 1991
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.590 Biomarker disease CTD_human Expression of P2X(7) purinoceptors on human lymphocytes and monocytes: evidence for nonfunctional P2X(7) receptors. 11003599 2000
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.590 AlteredExpression disease BEFREE P2X7 receptor expression in evolutive and indolent forms of chronic B lymphocytic leukemia. 11781259 2002
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.590 GeneticVariation disease BEFREE Activation of the P2X7 receptor leads to apoptosis of lymphocytes in individuals with CLL, and reduced function of this receptor has an anti-apoptotic effect, resulting in an increase in B-cell numbers. 11943260 2002
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.590 GeneticVariation disease LHGDN Activation of the P2X7 receptor leads to apoptosis of lymphocytes in individuals with CLL, and reduced function of this receptor has an anti-apoptotic effect, resulting in an increase in B-cell numbers. 11943260 2002
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		0.320 Biomarker disease CTD_human Evidence that ATP participates in the pathophysiology of pilocarpine-induced temporal lobe epilepsy: fluorimetric, immunohistochemical, and Western blot studies. 12121326 2002
CUI: C0014558
Disease: Uncinate Epilepsy
Uncinate Epilepsy 		0.300 Biomarker disease CTD_human Evidence that ATP participates in the pathophysiology of pilocarpine-induced temporal lobe epilepsy: fluorimetric, immunohistochemical, and Western blot studies. 12121326 2002
CUI: C0393672
Disease: Epilepsy, Benign Psychomotor, Childhood
Epilepsy, Benign Psychomotor, Childhood 		0.300 Biomarker disease CTD_human Evidence that ATP participates in the pathophysiology of pilocarpine-induced temporal lobe epilepsy: fluorimetric, immunohistochemical, and Western blot studies. 12121326 2002
CUI: C0393682
Disease: Epilepsy, Lateral Temporal
Epilepsy, Lateral Temporal 		0.300 Biomarker disease CTD_human Evidence that ATP participates in the pathophysiology of pilocarpine-induced temporal lobe epilepsy: fluorimetric, immunohistochemical, and Western blot studies. 12121326 2002
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.100 GeneticVariation disease BEFREE Five single-nucleotide polymorphisms (SNPs) previously identified in a putative 1.8-kb promoter region upstream of P2RX7 exon 1 were screened for associations with clinical tuberculosis. 12404161 2002
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.590 GeneticVariation disease BEFREE We investigated tumour DNA in 170 patients with CLL using PCR-RFLP analysis with HhaI restriction enzyme cleavage to screen for the polymorphism in the P2X7 receptor gene. 12493261 2002
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.590 Biomarker disease ORPHANET We investigated tumour DNA in 170 patients with CLL using PCR-RFLP analysis with HhaI restriction enzyme cleavage to screen for the polymorphism in the P2X7 receptor gene. 12493261 2002
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE 		0.310 Biomarker disease ORPHANET Polymorphism in the P2X7 receptor gene and survival in chronic lymphocytic leukaemia. 12493261 2002
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		0.300 Biomarker disease ORPHANET Polymorphism in the P2X7 receptor gene and survival in chronic lymphocytic leukaemia. 12493261 2002
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE We investigated tumour DNA in 170 patients with CLL using PCR-RFLP analysis with HhaI restriction enzyme cleavage to screen for the polymorphism in the P2X7 receptor gene. 12493261 2002
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.010 PosttranslationalModification disease BEFREE Mechanisms of P2X7 receptor-mediated ERK1/2 phosphorylation in human astrocytoma cells. 12529254 2003
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		0.010 PosttranslationalModification disease BEFREE Mechanisms of P2X7 receptor-mediated ERK1/2 phosphorylation in human astrocytoma cells. 12529254 2003
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.090 AlteredExpression disease BEFREE P2X7 mediates superoxide production in primary microglia and is up-regulated in a transgenic mouse model of Alzheimer's disease. 12551918 2003
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms 		0.010 AlteredExpression group LHGDN Expression of purinergic receptors in non-melanoma skin cancers and their functional roles in A431 cells. 12880424 2003
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.590 GeneticVariation disease BEFREE We conclude that the influence, if any, of P2X7 genotype on susceptibility to CLL or clinical outcome is small. 12931211 2003
CUI: C0432408
Disease: Trisomy 12
Trisomy 12 		0.010 GeneticVariation phenotype BEFREE Finally, no association was found between trisomy 12 and P2X7 genotype. 12931211 2003
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.590 GeneticVariation disease BEFREE These results indicate that the 1513 A-->C polymorphism of the P2X7 gene is unlikely to play a significant role in the pathogenesis or disease progression of B-CLL. 14510944 2003
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE 		0.310 GeneticVariation disease BEFREE These results indicate that the 1513 A-->C polymorphism of the P2X7 gene is unlikely to play a significant role in the pathogenesis or disease progression of B-CLL. 14510944 2003
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.010 AlteredExpression disease BEFREE Zinc and ATP induced a sustained, reversible, and reproducible increase in cytosolic Ca(2+) in CF and non-CF cells with chemistry and pharmacology most consistent with activation of P2X purinergic receptor channels. 14701827 2004