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 GeneticVariation disease UNIPROT Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms. 17252003 2007
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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		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: C0010346
Disease: Crohn Disease
Crohn Disease 		0.010 GeneticVariation disease LHGDN Genetic polymorphisms of mannan binding lectin (MBL), serum levels of MBL, the MBL associated serine protease and H-ficolin in patients with Crohn's disease. 17303612 2007
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 AlteredExpression disease BEFREE Aspects of gene-environment interactions in multiple sclerosis (MS) were analysed in serum samples from 46 MS families (25 sporadic MS cases and 42 familial MS cases): antibodies to the MS-associated human endogenous retrovirus HERV-H, and levels of three components in the innate pathogen-associated molecular pattern recognition: mannan-binding lectin (MBL), and MASP-2 and MASP-3. 17113160 2007
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.010 AlteredExpression disease BEFREE We investigated mbl2 genotypes, MBL concentrations, and MBL-MASP-2 complex activity in patients with ovarian cancer. 17131120 2007
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 AlteredExpression disease BEFREE We investigated mbl2 genotypes, MBL concentrations, and MBL-MASP-2 complex activity in patients with ovarian cancer. 17131120 2007
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 AlteredExpression disease BEFREE We investigated mbl2 genotypes, MBL concentrations, and MBL-MASP-2 complex activity in patients with ovarian cancer. 17131120 2007
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: 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: 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: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.010 AlteredExpression group LHGDN Pre- and postoperative levels in serum of mannan-binding lectin associated serine protease-2 -a prognostic marker in colorectal cancer. 18638656 2008
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		0.010 GeneticVariation group BEFREE No significant association was found between MBL2 or MASP2 alleles or genotypes, neither comparing the total patients with HCC and healthy controls nor between the different groups of HCC subjects divided for type of viral infection. 18221301 2008
CUI: C0175708
Disease: Chronic rheumatic heart disease
Chronic rheumatic heart disease 		0.010 GeneticVariation disease BEFREE In this study we investigated whether partial or total MASP-2 deficiencies resulting from Asp105Gly mutation are associated with rheumatic fever (RF) and chronic rheumatic heart disease (RHD). 18295674 2008
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 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: C3151085
Disease: MASP2 Deficiency
MASP2 Deficiency 		0.710 GeneticVariation disease CLINVAR Polymorphisms in mannan-binding lectin (MBL)-associated serine protease 2 affect stability, binding to MBL, and enzymatic activity. 19234189 2009
CUI: C0015674
Disease: Chronic Fatigue Syndrome
Chronic Fatigue Syndrome 		0.010 AlteredExpression disease BEFREE At 1 hour postexercise, C4, mannan-binding lectin serine protease 2 (MASP2) and ficolin 1 (FCN1) transcripts were detected at higher levels (> or = 2-fold) in at least 50% (4 of 8) of CFS subjects and were detected in 88% (7 of 8) CFS subjects when subjects with overexpression of either C4 or MASP2 were combined. 19015737 2009
CUI: C0206750
Disease: Coronavirus Infections
Coronavirus Infections 		0.010 GeneticVariation group BEFREE Lack of association between polymorphisms of MASP2 and susceptibility to SARS coronavirus infection. 19405982 2009
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.010 GeneticVariation disease BEFREE To investigate the role of the TDP-43 gene in sporadic forms of frontotemporal dementia (FTD), we genotyped 10 single nucleotide polymorphisms covering the entire TDP-43 genomic region, including the MASP2 gene in 173 patients with sporadic FTD (including 7 patients that were diagnosed with FTD and ALS) and 184 matched controls from Germany. 17614162 2009
CUI: C1142127
Disease: Pneumococcal bacteraemia
Pneumococcal bacteraemia 		0.010 GeneticVariation disease BEFREE Polymorphic receptors of the innate immune system (MBL/MASP-2 and TLR2/4) and susceptibility to pneumococcal bacteremia in HIV-infected patients: a case-control study. 19275590 2009
CUI: C1175175
Disease: Severe Acute Respiratory Syndrome
Severe Acute Respiratory Syndrome 		0.010 GeneticVariation disease BEFREE As the downstream protein of MBL, variants of the MBL-associated serine protease-2 (MASP2) gene may be associated with SARS coronavirus (SARS-CoV) infection in the same population. 19405982 2009
CUI: C2732413
Disease: Postexertional fatigue
Postexertional fatigue 		0.010 AlteredExpression phenotype BEFREE MASP2 down-regulation may act as an antiinflammatory acute-phase response in healthy subjects, whereas its elevated level may account for increased C4a and inflammation-mediated postexertional malaise in CFS subjects. 19015737 2009
CUI: C0242966
Disease: Systemic Inflammatory Response Syndrome
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
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: 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