Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.010 Biomarker disease BEFREE We also found increased anti-EXTL3 antibodies in endometriosis patients' sera. 31467315 2019
CUI: C0036690
Disease: Septicemia
Septicemia
0.010 Biomarker disease BEFREE Neonates born to RPR non-reactive mothers were 80% less likely to have sepsis [Relative risk (RR) = 0.20; 95% Confidence interval (CI) = 0.04-0.92] and 9% more likely to be discharged [RR = 1.09; 95% CI = 1.00-1.18] compared to those of RPR-reactive mothers. 31416437 2019
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.010 Biomarker disease BEFREE HBsAg positivity was 12.2%, HCVAb 3.3%, HIVAb 1.6%, TPPA+RPR positivity in the 0.7%; 10.2% had a positive Mantoux test; 5.6% had Chest X-rays positive for signs of infection and 6 patients had an active tuberculosis. 30377049 2019
CUI: C0042164
Disease: Uveitis
Uveitis
0.010 Biomarker disease BEFREE <i>Methods</i>: We retrospectively reviewed the records of CSF analysis of 14 patients with syphilitic uveitis with treponemal analysis - chemiluminescent immunoassay and TPHA- and non-treponemal analysis - Rapid Plasma Reagin test - RPR. 31647700 2019
CUI: C0151332
Disease: Active tuberculosis
Active tuberculosis
0.010 Biomarker disease BEFREE HBsAg positivity was 12.2%, HCVAb 3.3%, HIVAb 1.6%, TPPA+RPR positivity in the 0.7%; 10.2% had a positive Mantoux test; 5.6% had Chest X-rays positive for signs of infection and 6 patients had an active tuberculosis. 30377049 2019
CUI: C0243026
Disease: Sepsis
Sepsis
0.010 Biomarker disease BEFREE Neonates born to RPR non-reactive mothers were 80% less likely to have sepsis [Relative risk (RR) = 0.20; 95% Confidence interval (CI) = 0.04-0.92] and 9% more likely to be discharged [RR = 1.09; 95% CI = 1.00-1.18] compared to those of RPR-reactive mothers. 31416437 2019
CUI: C0600427
Disease: Cocaine Dependence
Cocaine Dependence
0.010 Biomarker disease BEFREE Overall, this pilot study suggests that RPR 102681 would be unlikely candidate, as an agonist medication for the treatment for cocaine addiction but worth investigating further for possible role in reducing craving. 29923314 2019
CUI: C0015967
Disease: Fever
Fever
0.010 Biomarker phenotype BEFREE EXTL3ΔN is quite stable, as high temperature (∼59 °C) was required for denaturation. 29346724 2018
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency
0.010 Biomarker disease BEFREE EXTL3 was most abundant in hematopoietic stem cells and early progenitor T cells, which is in line with a SCID phenotype at the level of early T cell development in the thymus. 28132690 2017
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
0.010 Biomarker disease BEFREE In conclusion, GPR does not show advantages than APRI, FIB-4 and RPR in identifying significant liver fibrosis, advanced liver fibrosis and liver cirrhosis in both HBeAg positive CHB and HBeAg negative CHB in China. 28819319 2017
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.010 Biomarker disease BEFREE We analyzed diagnostic values of GPR for detecting liver fibrosis and compared diagnostic performances of GPR with APRI (aspartate aminotransferase-to-platelet ratio index), FIB-4 (fibrosis index based on the four factors), NLR (neutrophil-to-lymphocyte ratio), AAR (aspartate aminotransferase/alanine aminotransferase ratio) and RPR (red cell distribution width-to-platelet ratio) in HBeAg positive CHB and HBeAg negative CHB. 28819319 2017
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
0.010 GeneticVariation phenotype BEFREE These data identify <i>EXTL3</i> mutations as a novel cause of severe immune deficiency with skeletal dysplasia and developmental delay and underline a crucial role of HS in thymopoiesis and skeletal and brain development. 28148688 2017
CUI: C2882221
Disease: Acute pulmonary embolism
Acute pulmonary embolism
0.010 Biomarker disease BEFREE Upon evaluation of the diagnostic differentiation of these risk factors for massive APE by employing receiver operating characteristic curve analysis, it was determined that PLR (AUC±SE=0.877±0.015; P<.001), and NLR (AUC±SE=0.893±0.013; P<.001) have similar diagnostic differentiation in diagnosing massive APE and these two parameters are superior over PASP, MPR, WMR, and RPR. 27709684 2017
Human immunodeficiency virus (HIV) II infection category B1
0.010 Biomarker disease BEFREE From 2013 to 2014, MSM and transwomen seeking human immunodeficiency virus (HIV) or sexually transmitted infection (STI) testing and/or treatment were recruited into a 2-year observational cohort study to determine predictors of recently acquired syphilis infection (defined as a rapid plasma reagin [RPR] titer ≥1:16 and a reactive treponemal antibody test) in Lima, Peru. 28399798 2017
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.010 AlteredExpression group BEFREE Here, we asked whether CHSY1 or EXTL3 expression correlates with malignant potential of soft tissue sarcomas with myxoid substance. 26997434 2016
CUI: C4551687
Disease: Sarcoma of soft tissue
Sarcoma of soft tissue
0.010 AlteredExpression group BEFREE Here, we asked whether CHSY1 or EXTL3 expression correlates with malignant potential of soft tissue sarcomas with myxoid substance. 26997434 2016
CUI: C0086649
Disease: MPS III C
MPS III C
0.010 Biomarker disease BEFREE Here we use different siRNAs targeting EXTL2 and EXTL3 genes, which are important for HS synthesis, as SRT in Sanfilippo C patients' fibroblasts in order to decrease glycosaminoglycan (GAG) storage inside the lysosomes. 26347037 2015
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.010 GeneticVariation disease BEFREE We screened patients with stable coronary artery disease for cytochrome P450 (CYP) 2C19 genotypes and enrolled 103 patients who lacked CYP2C19*2 or *3 loss-of-function allele to minimize the effect of this gene on high RPR. 23922147 2013
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.010 GeneticVariation disease BEFREE We screened patients with stable coronary artery disease for cytochrome P450 (CYP) 2C19 genotypes and enrolled 103 patients who lacked CYP2C19*2 or *3 loss-of-function allele to minimize the effect of this gene on high RPR. 23922147 2013
CUI: C0020452
Disease: Hyperemia
Hyperemia
0.010 Biomarker disease BEFREE Multivariable logistic regression analysis identified reactive hyperemia index as an independent and significant determinant of high RPR (odds ratio, 0.55; 95% confidence interval, 0.39-0.78; P=0.001). 23922147 2013
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction
0.010 Biomarker phenotype BEFREE We hypothesized that endothelial dysfunction could be associated with high RPR after dual antiplatelet therapy in patients with stable coronary artery disease. 23922147 2013
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.010 GeneticVariation disease BEFREE We screened patients with stable coronary artery disease for cytochrome P450 (CYP) 2C19 genotypes and enrolled 103 patients who lacked CYP2C19*2 or *3 loss-of-function allele to minimize the effect of this gene on high RPR. 23922147 2013
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses
0.010 Biomarker disease BEFREE Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses. 19690583 2010
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA
0.010 AlteredExpression disease BEFREE Lysosomal gag levels in MPS IIIA and MPS I fibroblasts were also reduced by EXTL2 and EXTL3-specific shRNA. 19690583 2010
CUI: C0015302
Disease: External exotoses
External exotoses
0.010 Biomarker disease BEFREE Exostoses like-3 (EXTL3) is a putative tumour suppressor gene but its involvement in colorectal cancer (CRC) is unclear. 18543267 2008