Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151085
Disease: MASP2 Deficiency
MASP2 Deficiency
0.710 Biomarker disease BEFREE Cumulative evidence suggests that MASP-2, and even other components of the LP, are largely redundant in human defenses and that individuals with MASP-2 deficiency do not seem to be particularly prone to infectious or autoimmune diseases. 31828694 2020
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.060 GeneticVariation disease BEFREE Both genotype GC at rs7096206 of MBL genes and genotype TC at rs2273346 and rs6695096 of MASP-2 genes were more prevalent in the TB patient group than the healthy control group (P<0.05, OR 1.393, 1.302 and 1.426 respectively). 25887173 2015
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.060 Biomarker disease BEFREE Those findings provided an evidence that MASP-2 may be as a newly immunomodulatory in targeting granuloma formation, which displayed a potential protective role in control of tuberculosis. 28536447 2017
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.060 GeneticVariation disease BEFREE Tuberculosis (TB) has been linked with mannose-binding lectin and MASP-2 gene polymorphism. 31383674 2019
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.060 GeneticVariation disease BEFREE Genotype CG at rs7096206 of MBL genes (OR 2.02) and genotype TC at rs6695096 of MASP-2 genes (OR 1.67) were more prevalent in the TB patients than in healthy controls (p<0.05). 25312983 2014
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.060 GeneticVariation disease BEFREE No relationship between Ficolin-2, Ficolin-3 or MASP-2 genotypes or serum levels and TB were observed. 25761428 2015
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.060 Biomarker disease BEFREE Many genes involved in tuberculosis susceptibility (e.g., NRAMP1 (SLC11A1), IFNG, NOS2A, VDR, ISG15, TACO, TLR1, TLR, IL18R1, chemokines, PADI, DUSP14, MBL, and MASP-2) have been subjected to epigenetic modification. 26559095 2015
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.030 AlteredExpression disease BEFREE The haplotype block MASP2*ARDP was associated with protection against HCV infection (OR = 0.49, p = .044) and lower MASP-2 levels in controls (p = .021), while haplotype block AGTDVRC was significantly increased in patients (OR = 7.58, p = .003). 29675993 2018
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.030 Biomarker disease BEFREE However, further functional investigations are necessary to understand the degree of involvement between MASP2 and the HCV susceptibility. 21843573 2011
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.030 GeneticVariation disease BEFREE Our data do not seem to suggest a role for MBL2 and MASP2 polymorphisms in HCC susceptibility either for HBV-HCV infection-dependent HCC or for HCC raised as a consequence of exposure to different risk factors. 18221301 2008
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.020 GeneticVariation group BEFREE Mannan-binding lectin serine protease 2 (MASP-2) mutation was associated with recurrent infections and autoimmune diseases. 31383674 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.020 Biomarker group BEFREE Cumulative evidence suggests that MASP-2, and even other components of the LP, are largely redundant in human defenses and that individuals with MASP-2 deficiency do not seem to be particularly prone to infectious or autoimmune diseases. 31828694 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 Biomarker group BEFREE A SMAP in the face for cancer. 28504652 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 AlteredExpression group BEFREE This was partly a reflection of higher MBL concentrations and MBL-MASP-2 activity in cancer patients compared with healthy women carrying corresponding genotypes. 17131120 2007
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.020 AlteredExpression disease BEFREE However, MBL or MASP-2 levels in serum did not affect the clinical outcome in the cohort of CF patients studied. 15654829 2005
CUI: C0032285
Disease: Pneumonia
Pneumonia
0.020 Biomarker disease BEFREE Polymorphisms at genes coding for mannose binding lectin (MBL), MBL-associated serine protease 2, Fc-gamma receptors, and surfactant proteins A1, A2, and D were determined, and their potential association with pneumonia was analyzed. 25086072 2014
CUI: C0032285
Disease: Pneumonia
Pneumonia
0.020 AlteredExpression disease BEFREE In patients with colorectal cancer (CRC), the MBL and MASP-2 serum levels are increased and high MASP-2 levels are associated with recurrence and poor survival, whereas low MBL levels predict post-operative pneumonia. 21198752 2011
CUI: C0035436
Disease: Rheumatic Fever
Rheumatic Fever
0.020 GeneticVariation disease BEFREE These results suggest that the D105G mutation in the MASP2 gene does not play a major role in the pathogenesis of RF. 18295674 2008
CUI: C0035436
Disease: Rheumatic Fever
Rheumatic Fever
0.020 GeneticVariation disease BEFREE MASP2 gene polymorphisms and protein levels seem to play an important role in the development of RF and establishment of RHD. 25318078 2014
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease
0.020 GeneticVariation disease BEFREE MASP2 gene polymorphisms and protein levels seem to play an important role in the development of RF and establishment of RHD. 25318078 2014
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease
0.020 GeneticVariation disease BEFREE The Asp105Gly MASP2 mutation (D105G) was detected by polymerase chain reaction-restriction fragment length polymorphism in 148 patients (43 men and 105 women; mean age 39.1 +/- 14.4 years) with a history of RF, including 106 (73%) with RHD and 42 (27%) without cardiac sequelae, and 129 control subjects (52 men and 77 women, mean age 38.4 +/- 12.2 years). 18295674 2008
CUI: C0036690
Disease: Septicemia
Septicemia
0.020 AlteredExpression disease BEFREE Among neonates, ficolin-1 and MASP-2 levels were elevated in sepsis relative to healthy, but not disease, controls. 26850322 2016
CUI: C0036690
Disease: Septicemia
Septicemia
0.020 AlteredExpression disease BEFREE On day 7 of life, MASP2 levels in infants developing late-onset sepsis measured before the onset of symptoms were found to be lower, as compared to non-LOS infants. 29807983 2018
Systemic Inflammatory Response Syndrome
0.020 GeneticVariation disease BEFREE No differences were observed regarding the frequencies of low-MBL genotypes (O/O and XA/O) and MASP2 polymorphisms between patients with SIRS and healthy controls. 20042521 2010
Systemic Inflammatory Response Syndrome
0.020 GeneticVariation disease BEFREE A MASP2 Y371D DD genotype predisposed to SIRS (OR 4·78, 1·06 to 21·59; P = 0·042) and septic shock (OR 2·53, 1·12 to 4·33; P = 0·003). 24227370 2013