MBL2, mannose binding lectin 2, 4153

N. diseases: 563; N. variants: 21
Disease: Mannose-Binding Protein Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 GeneticVariation disease BEFREE After adjusting for potential confounders, MBL deficiency (<0.5 µg/ml) was found less frequently in cases than controls (26 vs. 41%, OR 0.4, 95% confidence interval (CI) 0.20-0.95, p=0.04) as were low producing MBL genotypes (11 vs. 23%, OR 0.2, 95% CI 0.08-0.75, p=0.01), whereas NOD2 polymorphisms were similarly distributed. 24086711 2013
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 GeneticVariation disease BEFREE Our data suggest a possible influence of MBL deficiency in SLE European-derived although we did not observe any involvement of MBL2 variants in SLE clinical progression. 22206649 2012
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 CausalMutation disease CLINVAR Defective activities, but not secretions, resulting from gene point mutations of human mannan-binding lectin. 22323042 2012
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 AlteredExpression disease BEFREE High serum MBL level as well as polymorphisms in the mannose-binding lectin 2 (MBL2) gene resulting in MBL deficiency are involved in the mechanism of a number of non-infectious diseases such as asthma, conferring either risk or protection in different population studies. 22674410 2012
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 AlteredExpression disease BEFREE Pneumonia, bronchopulmonary dysplasia (BPD) and intraventricular hemorrhage (IVH) were significantly higher in infants with MBL deficiency compared with infants with normal MBL levels. 21681178 2012
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 Biomarker disease BEFREE In a cohort of children with cancer, we investigated (i) how to determine MBL deficiency and (ii) whether MBL is a prognostic factor for disease severity. 21488869 2011
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 GeneticVariation disease BEFREE The frequency of MBL2 gene variants responsible for MBL deficiency (LXPA/O and O/O) is significantly higher in CD patients compared with controls or children with UC. 21702710 2011
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 GeneticVariation disease BEFREE The frequencies of MBL2 gene exon 1 mutations as well as MBL deficiency-associated variants (LXPA/O+O/O) among newborns with confirmed cytomegalovirus infection were not significantly lower than among non-infected individuals. 21722964 2011
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 GeneticVariation disease BEFREE We investigated the impact of MBL2 gene polymorphisms and MBL deficiency on the recurrence of infective exacerbation in patients with COPD. 20688922 2011
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 GeneticVariation disease BEFREE A substantial proportion of all human populations studied to date have MBL deficiency due to MBL2 polymorphisms, which potentially increases susceptibility to infectious disease. 20375630 2010
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 AlteredExpression disease BEFREE Median MBL level was not significantly different between IBDs (Crohn's disease [CD]: 929; ulcerative colitis [UC]: 810 ng/ml) and the control group (1027 ng/ml), as well as the prevalence of absolute MBL deficiency (<100 ng/ml) (CD: 15.0%, UC: 18.4%, controls: 15.6%). 20079790 2010
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 GeneticVariation disease BEFREE MBL deficiency is associated with mutations in the promoter region and in exon 1 of the MBL2 gene. 20504205 2009
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 GeneticVariation disease BEFREE Among all patients with RLPL, 26.7% had MBL2 genotypes associated with MBL deficiency compared with 12.5% in controls [odds ratio (OR) 2.55; 95% confidence interval (CI) 1.17-5.52; P < 0.02]. 18927129 2009
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 GeneticVariation disease BEFREE Single nucleotide polymorphisms (SNPs) in the promoter (wild-type Y versus X) and exon 1 (A versus 0) of the MBL2 gene can lead to MBL deficiency. 19438602 2009
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 Biomarker disease BEFREE Classical pathway interference in functional MBL assays can and should be inhibited to prevent that MBL deficiency is overlooked and patients are misdiagnosed. 19171151 2009
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 GeneticVariation disease BEFREE The aim of our study was to determine whether genetically determined MBL deficiency is associated with susceptibility to juvenile rheumatoid arthritis (JRA) and whether MBL2 genotypes are associated with JRA severity. 18334024 2008
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 Biomarker disease BEFREE MBL replacement therapy to help patients with MBL deficiency has undergone phase I clinical trials. 18653905 2008
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 Biomarker disease BEFREE Because the role of MBL in host defense is still unclear, both f-MBL and haplotype should be measured to determine the clinical implications of MBL deficiency in infants. 18571005 2008
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 GeneticVariation disease BEFREE There was no difference in MBL function, mannan-binding level or increase in the frequency of MBL deficiency or low producing MBL2 genotypes in any of these comparisons. 18415846 2008
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 GeneticVariation disease BEFREE MBL deficiency is associated with mutations in the promoter region and in exon 1 of the MBL2 gene. 18494378 2007
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 GeneticVariation disease BEFREE The variant alleles in the mannose binding lectin-2 (MBL-2) gene have been associated with MBL deficiency and increased susceptibility to sepsis. 17133182 2007
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 Biomarker disease BEFREE Mannan-binding lectin (MBL) is a plasma protein of the innate immune system with the ability to initiate antimicrobial and inflammatory actions.MBL deficiency is common. 16023210 2006
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 GeneticVariation disease BEFREE There were suggestions that the MBL2 polymorphism has been under balancing selection, based on the high global frequency of alleles generating MBL deficiency and on the worldwide distribution of diseases negatively associated with them. 17002903 2006
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 GeneticVariation disease BEFREE The protective role of low-producer mbl-2 genotypes against TBC together with the positive correlation observed between non-producer mbl-2 alleles and TBC incidence, suggest a balancing selection: in spite of an increased susceptibility to respiratory infections associated with MBL deficiency, mbl-2 deficient alleles would have been selected along different populations as a consequence of its selective advantage against intracellular pathogens, such as M. tuberculosis. 16500704 2006
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 Biomarker disease BEFREE Mannan-binding lectin (MBL) is a central molecule of the innate immune system and MBL deficiency is known to predispose to infection. 16277709 2005