NLRP3, NLR family pyrin domain containing 3, 114548

N. diseases: 805; N. variants: 74
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis
0.020 Biomarker disease BEFREE Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis. 12355493 2002
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis
0.020 Biomarker disease BEFREE We investigated the hypothesis that low-penetrance mutations in genes (TNFRSF1A, MEFV and NALP3/CIAS1) associated with hereditary periodic fever syndromes (HPFs) might be risk factors for AA amyloidosis among patients with chronic inflammatory disorders, including rheumatoid arthritis (RA), juvenile idiopathic arthritis (JIA), Crohn's disease, undiagnosed recurrent fevers and HPFs themselves. 15071491 2004
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.110 Biomarker phenotype HPO
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.110 Biomarker phenotype BEFREE No associations between epidemiological information and assemblage was detected, but assemblage B was significantly (P<0.01) more frequently found in children with diarrhea, flatulence or abdominal pain than assemblage A. Sub-assemblage AII accounted for the majority of cases (86.5%). 24462623 2014
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.040 AlteredExpression phenotype BEFREE We assessed the effects of melatonin on behavioral changes and inflammatory cytokine expression in hippocampus of mice in LPS-induced DLB, as well as its effects on NLR Family Pyrin Domain Containing 3 (NLRP3) inflammasome activation, oxidative stress and pyroptotic cell death in murine microglia <i>in vitro</i>. 31327964 2019
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.040 Biomarker phenotype BEFREE Therefore, targeting the NLRP3 inflammasome complex may represent an innovative and consequential approach to limit neuroinflammatory states in psychiatric disorders, such as major depressive disorder. 29902514 2018
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.040 Biomarker phenotype BEFREE Recent data have demonstrated that NLRP3 activation appears to bridge the gap between immune activation and metabolic danger signals or stress exposure, which are key factors in the pathogenesis of psychiatric disorders. 28263786 2017
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.040 Biomarker phenotype BEFREE Recent studies have implicated the NLRP3 inflammasome in various psychiatric disorders, including depression. 29016824 2017
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology
0.100 Biomarker disease HPO
CUI: C0151854
Disease: Abnormal platelets
Abnormal platelets
0.100 Biomarker phenotype HPO
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system
0.100 Biomarker phenotype HPO
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice
0.100 Biomarker disease HPO
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.010 AlteredExpression disease BEFREE 0.1 microM endothelin 3 (ET3), 1 microM angiotensin II (AII), and 10 microM acetylcholine (Ach) significantly increased AVP release; ET3 (C 1.78 +/- 0.20 vs. ET3 6.85 +/- 1.86 pg/2 x 10(6) cells, N = 8, P < 0.02); AII (C 1.29 +/- 0.38 vs. AII 27.80 +/- 7.09 pg/2 x 10(6) cells, N = 5, P < 0.05) and Ach (C 1.14 +/- 0.33 vs. Ach 2.68 +/- 0.58 pg/2 x x10(6) cells, N = 6, P < 0.05). 8961255 1996
CUI: C0702166
Disease: Acne
Acne
0.310 GeneticVariation disease BEFREE A dual luciferase reporter assay was performed to determine whether the SNP rs10754558 might be responsible for the altered NLRP3 gene expression in AV by disrupting the interaction between micro-RNA (miR)-4273 and NLRP3 mRNA. 29888470 2019
CUI: C0702166
Disease: Acne
Acne
0.310 Biomarker disease CTD_human Pyoderma gangrenosum and its syndromic forms: evidence for a link with autoinflammation. 27106250 2016
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris
0.310 GeneticVariation disease BEFREE A dual luciferase reporter assay was performed to determine whether the SNP rs10754558 might be responsible for the altered NLRP3 gene expression in AV by disrupting the interaction between micro-RNA (miR)-4273 and NLRP3 mRNA. 29888470 2019
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris
0.310 Biomarker disease CTD_human Pyoderma gangrenosum and its syndromic forms: evidence for a link with autoinflammation. 27106250 2016
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma
0.010 Biomarker disease BEFREE Therefore, therapeutic development for VS should include considerations for minimizing NLRP3-associated inflammation to best preserve hearing. 31430634 2019
CUI: C0151332
Disease: Active tuberculosis
Active tuberculosis
0.020 GeneticVariation disease BEFREE Our aim was to investigate the association between polymorphisms in CARD8 and NLRP3 and active tuberculosis (TB) as well as their relationship to treatment outcome in a high-endemic setting for TB. 30816317 2019
CUI: C0151332
Disease: Active tuberculosis
Active tuberculosis
0.020 GeneticVariation disease BEFREE Activation of the NLRP3 inflammasome by Mycobacterium tuberculosis is uncoupled from susceptibility to active tuberculosis. 22101787 2012
CUI: C0001306
Disease: Acute alcoholic liver disease
Acute alcoholic liver disease
0.200 Therapeutic disease RGD Dihydroartemisinin protects against alcoholic liver injury through alleviating hepatocyte steatosis in a farnesoid X receptor-dependent manner. 27939985 2017
CUI: C0263678
Disease: Acute arthritis
Acute arthritis
0.010 Biomarker disease BEFREE NLRP3 inflammasome inhibitor OLT1177 suppresses joint inflammation in murine models of acute arthritis. 30075804 2018
CUI: C0275550
Disease: Acute bacterial peritonitis
Acute bacterial peritonitis
0.010 AlteredExpression disease BEFREE Here, we show that the NLRP3 inflammasome is activated during acute bacterial peritonitis in patients on PD, and this activation associates with the release of IL-1<i>β</i> in the dialysate. 28193826 2017
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome
0.020 GeneticVariation disease BEFREE In summary, this study demonstrates that the G+7/in6A and A10370-G polymorphisms of the CASP1 gene are associated with increased risk of developing ACS, whereas the UTR'3 G37562-C polymorphism of the NLRP3 gene is associated with a decreased risk of developing ACS in Mexican population. 28456882 2017
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome
0.020 AlteredExpression disease BEFREE In EAT, mRNA expression of both NALP3 and pro-IL1β was significantly higher in ACS than in SA and MVD (P=0.028 and P=0.005, respectively). 28268083 2017