Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4153
Gene Symbol: MBL2
MBL2
0.200 Biomarker disease BEFREE MBL insufficiency is linked to an increased risk of lung infection and to declines in lung function in patients with cystic fibrosis. 31012247 2019
Entrez Id: 4153
Gene Symbol: MBL2
MBL2
0.200 GeneticVariation disease BEFREE When we used the dominant model, the MBL2 allele rs11003125 (MBL2-550; p = 0.022, Odds Ratio (OR) 2.87, 95% CI 1.14-7.27) was significantly associated with CF patients as risk factor, and the ADRB2 allele rs1042713 (p.Arg16Gly; p = 0.005, Odds Ratio (OR) 0.37, 95% CI 0.19-0.75) was significantly associated with CF patients as protect factor. 29703608 2018
Entrez Id: 4153
Gene Symbol: MBL2
MBL2
0.200 Biomarker disease BEFREE Mannose-binding lectin (MBL) plays an important role in innate immunity and has been reported to be associated with the age-related decline in lung function in cystic fibrosis. 24753481 2015
Entrez Id: 4153
Gene Symbol: MBL2
MBL2
0.200 GeneticVariation disease BEFREE MBL2 variants were studied in 106 Argentinean pediatric CF patients carrying two severe CFTR mutations. 25178872 2015
Entrez Id: 4153
Gene Symbol: MBL2
MBL2
0.200 Biomarker disease BEFREE The role of the MBL2 gene in lung disease severity in CF patients represents a very complex phenomenon where both genetic and environmental factors play an important role in addition to that of the MBL2 gene. 22131319 2011
Entrez Id: 4153
Gene Symbol: MBL2
MBL2
0.200 Biomarker disease BEFREE MBL has been proposed as a possible modulator of clinical severity in CF. 21045008 2011
Entrez Id: 4153
Gene Symbol: MBL2
MBL2
0.200 GeneticVariation disease BEFREE Thus, use of a modeling framework that identified confounding among disease variables revealed that variation in MBL2 associates with age at infection with Pa and age at conversion to mucoid Pa in CF. 20068595 2010
Entrez Id: 4153
Gene Symbol: MBL2
MBL2
0.200 GeneticVariation disease BEFREE The MBL2 gene polymorphisms were not associated with disease severity in the CF patients. 19466271 2009
Entrez Id: 4153
Gene Symbol: MBL2
MBL2
0.200 Biomarker disease BEFREE We therefore evaluated the association of MBL2 with CF pulmonary phenotype in a cohort of 1,019 Canadian pediatric CF patients. 18292811 2008
Entrez Id: 4153
Gene Symbol: MBL2
MBL2
0.200 AlteredExpression disease BEFREE Low serum MBL levels were shown to be associated with serious infectious complications, mainly in patients in whom other non-specific immune system barriers were disturbed (granulocytopenia, cystic fibrosis). 18637104 2008
Entrez Id: 4153
Gene Symbol: MBL2
MBL2
0.200 GeneticVariation disease BEFREE TNFalpha-238 G/A and MBL2 O/O genotypes appear to be genetic modifiers of survival of cystic fibrosis. 17158822 2007
Entrez Id: 4153
Gene Symbol: MBL2
MBL2
0.200 GeneticVariation disease BEFREE The structural and promoter (-221x/y) variants of MBL2, variants at codons 19, 50, 62, and 219 of SFTPA1, and at codons 9, 91, and 223 for SFTPA2, were studied in 135 adults with CF and compared to their forced expired volume in 1 sec (FEV1), diffusion of CO (DLCO), and other pulmonary scores. 16429424 2006
Entrez Id: 4153
Gene Symbol: MBL2
MBL2
0.200 GeneticVariation disease BEFREE Concentrations and genotypes of MASP-2 and MBL in 109 CF patients were correlated to lung function and chronic infections. 17045845 2006
Entrez Id: 4153
Gene Symbol: MBL2
MBL2
0.200 Biomarker disease BEFREE Mannan-binding lectin (MBL) deficiency has been reported to be associated with poor outcome in CF lung disease. 15654829 2005
Entrez Id: 4153
Gene Symbol: MBL2
MBL2
0.200 Biomarker disease BEFREE We performed MBL2 genotyping in 47 CF patients-cared of at the regional CF Centre of Trieste-trying to establish a correlation within allelic variants of MBL2 and modification of patients' clinical outcome. 16046196 2005
Entrez Id: 4153
Gene Symbol: MBL2
MBL2
0.200 GeneticVariation disease BEFREE Impaired pulmonary status in cystic fibrosis adults with two mutated MBL-2 alleles. 15516675 2004
Entrez Id: 4153
Gene Symbol: MBL2
MBL2
0.200 Biomarker disease BEFREE Moreover, purified mannose-binding lectin can safely be administered to chronically ill patients, and may be a potential treatment in CF and other diseases in which mannose-binding lectin deficiency plays a pathophysiological role. 11836800 2002
Entrez Id: 4153
Gene Symbol: MBL2
MBL2
0.200 GeneticVariation disease BEFREE In another multicenter study mutations in alpha-1 antitrypsin (A1AT) and mannose binding lectin genes were found to be independent risk factors for liver disease in CF patients. 12124743 2002
Entrez Id: 4153
Gene Symbol: MBL2
MBL2
0.200 Biomarker disease BEFREE Moreover, MBL appears to have a significant influence on the course of certain chronic diseases like rheumatoid arthritis and cystic fibrosis. 12473150 2002
Entrez Id: 4153
Gene Symbol: MBL2
MBL2
0.200 Biomarker disease BEFREE These data highlight the crucial role of mannose binding lectin in the clinical outcome of cystic fibrosis, as it has recently been shown that the mannose binding lectin gene is a modulating gene of the respiratory involvement in cystic fibrosis patients. 11333866 2001
Entrez Id: 4153
Gene Symbol: MBL2
MBL2
0.200 Biomarker disease BEFREE The role of MBL in human pulmonary disease is less well established, although accumulating evidence suggests that it is a modifier for lung disease in tuberculosis and cystic fibrosis. 16263483 2001
Entrez Id: 4153
Gene Symbol: MBL2
MBL2
0.200 Biomarker disease BEFREE Differential binding of mannose-binding lectin to respiratory pathogens in cystic fibrosis. 10866448 2000
Entrez Id: 4153
Gene Symbol: MBL2
MBL2
0.200 GeneticVariation disease BEFREE Presence of MBL variant alleles is therefore associated with poor prognosis and early death in patients with CF. 10449435 1999
Entrez Id: 4153
Gene Symbol: MBL2
MBL2
0.200 SusceptibilityMutation disease CLINVAR