MBL2, mannose binding lectin 2, 4153

N. diseases: 563; N. variants: 21
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 Biomarker disease BEFREE Our study revealed an unexpected function of MBL in drug metabolism, thus providing new insight into the drug-induced liver injury in patients with MBL deficiency. 30706943 2019
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 Biomarker disease BEFREE We propose that MBL may be exploited as a new therapeutic approach in the treatment of chemical-induced sterile liver injury in patients with MBL deficiency. 30351498 2019
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 Biomarker disease BEFREE MBL deficiency has been linked to a more severe course of several infectious diseases and humans with detectable antibodies against B. burgdorferi are significantly more often MBL deficient compared to humans without antibodies against B. burgdorferi. 30723261 2019
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 GeneticVariation disease BEFREE MBL-deficiency, which is associated with MBL2 mutations, was associated with a lower age at diagnosis and with steeper declines in FEV<sub>1</sub> in patients with PCD. 31012247 2019
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 Biomarker disease BEFREE Our study revealed an unexpected function of MBL in osteoclastogenesis, thus providing new insight into inflammatory arthritis and other bone-related diseases in patients with MBL deficiency. 31214191 2019
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 Biomarker disease BEFREE The aim of this study was to ascertain whether mannose binding lectin deficiency is implicated in coexistent rheumatoid arthritis and bronchiectasis and to determine whether undetectable mannose binding lectin confers poorer long-term survival in coexistent rheumatoid arthritis and bronchiectasis or in rheumatoid arthritis in general. 30970022 2019
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 AlteredExpression disease BEFREE In MBL2 variant-type, mannose-binding lectin levels were significantly lower and incidences of mannose-binding lectin deficiency (MBL level<700ng/mL) were higher (p<0.001). 31029683 2019
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 AlteredExpression disease BEFREE Immunoglobulin replacement therapy reduced the rate of infectious complications in PID patients; however, these reductions were more apparent in patients with normal MBL levels than patients with MBL deficiency. 29119939 2018
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 Biomarker disease BEFREE Furthermore, infants born to Group A mothers with MBL deficiency (n = 13, MBL ≤100 ng/mL) had significantly lower birthweights, compared to those born to Group A women with normal MBL serum concentrations (P < .0001). 29758096 2018
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 Biomarker disease BEFREE In conclusion, MBL deficiency and MBL excess may both have deleterious effects on IgAN progression, which suggests that MBL contributes to IgAN pathogenesis through multiple mechanisms. 28698271 2017
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 GeneticVariation disease BEFREE The results suggest that MBL deficiency and the presence of MBL2 gene polymorphisms that lead to MBL deficiency are risk factors for the occurrence of miscarriage in patients with RA. 28898115 2017
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 GeneticVariation disease BEFREE MBL deficiency is usually caused by mutations in exon 1 of the MBL structural gene (MBL2). 27624657 2017
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND Long-term Clinical Outcome of Antibody Replacement Therapy in Humoral Immunodeficient Adults With Respiratory Tract Infections. 28347655 2017
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 GeneticVariation disease BEFREE Genetic sequencing in 77 consecutive patients with IMN identified four patients with MBL2 promoter and coding region variations associated with MBL deficiency and the same complement pattern in immune deposits as the index patient. 27153925 2016
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 GeneticVariation disease BEFREE Furthermore, cardiac patients with genotypes causing MBL deficiency presented less heart damage (P = 0.003, OR = 0.23), compared with cardiac patients having the XA haplotype causing low MBL levels, but fully capable of activating complement (P = 0.005, OR = 7.07). 26745156 2016
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 GeneticVariation disease BEFREE However, there was no association of MBL deficiency (<0.5 μg/ml), MBL2 haplo- or genotypes with IAC. 26730718 2016
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 GeneticVariation disease BEFREE These haplotypes comprise polymorphisms in the MBL2 gene and promoter region and are known to result in varying levels of MBL deficiency. 27315016 2016
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 Biomarker disease BEFREE Prevalence of plasma MBL deficiency (less than 100 μg/L) and MBL2 deficient genetic variants (A/O and O/O genotypes) was 21% (42 out of 197) and 39% (74 out of 190), respectively. 26348711 2015
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 GeneticVariation disease BEFREE We calculated and compared the proportions of plasma MBL deficiency, MBL2 structural variant alleles B (codon 54A>G), C (codon 57A>G), and D (codon 52T>C) as well as MBL2 promoter variants -550(H/L), -221(X/Y) and +4(P/Q) between HIV-1 and schistosoma co-infection and control groups using Chi Square test. 25830474 2015
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 AlteredExpression disease BEFREE Our study further supports the notion that neonates with MBL deficiency and low MBL serum levels at birth may be at higher risk of developing severe respiratory complications. 25879044 2015
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 AlteredExpression disease BEFREE However, there was a trend towards higher median MBL levels in cases with late AMD compared to cases with early AMD (1.0 vs. 0.4 μg/ml, p = 0.09) and MBL deficiency (<0.5 μg/ml) was encountered less frequently in the late AMD group (35% vs 56%, p = 0.03). 26207622 2015
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 Biomarker disease BEFREE Individuals homozygous or heterozygous for any of three variant alleles of MBL2 (O/O or A/O genotypes) have deficient concentrations of MBL2 in circulating blood, but previous studies linking MBL deficiency to susceptibility to meningococcal disease have not revealed a consistent association. 24977653 2014
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 GeneticVariation disease BEFREE As mannose-binding lectin (MBL) is involved in such processes, we hypothesized that the variants in the MBL2 gene resulting in MBL deficiency confer an increased risk of nephritis in systemic lupus erythematosus (SLE). 24850777 2014
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 Biomarker disease BEFREE Significant differences in MBL and MASP-2 concentrations were observed between cohorts, especially an intriguing finding associating panic disorder with MBL deficiency. 24856568 2014
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.700 GeneticVariation disease BEFREE We used the Nigerian cohort from our recently published study, which included 163 Schistosoma haematobium-infected individuals and 183 matched healthy subjects, and investigated whether MBL deficiency and MBL2 polymorphisms are associated with schistosomiasis. 23448728 2013