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 GENOMICS_ENGLAND Mannan-binding lectin-associated serine protease-2 (MASP-2) deficiency in two patients with pulmonary tuberculosis and one healthy control. 24658431 2015
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: C3151085
Disease: MASP2 Deficiency
MASP2 Deficiency 		0.710 GermlineCausalMutation disease ORPHANET Inherited deficiency of mannan-binding lectin-associated serine protease 2. 12904520 2003
CUI: C3151085
Disease: MASP2 Deficiency
MASP2 Deficiency 		0.710 Biomarker disease CTD_human
CUI: C3151085
Disease: MASP2 Deficiency
MASP2 Deficiency 		0.710 GeneticVariation disease CLINVAR Low clinical penetrance of mannose-binding lectin-associated serine protease 2 deficiency. 17137870 2006
CUI: C3151085
Disease: MASP2 Deficiency
MASP2 Deficiency 		0.710 GeneticVariation disease CLINVAR Inherited deficiency of mannan-binding lectin-associated serine protease 2. 12904520 2003
CUI: C3151085
Disease: MASP2 Deficiency
MASP2 Deficiency 		0.710 GeneticVariation disease CLINVAR Lectin pathway of complement activation in a Polish woman with MASP-2 deficiency. 24332888 2014
CUI: C3151085
Disease: MASP2 Deficiency
MASP2 Deficiency 		0.710 CausalMutation disease CLINVAR
CUI: C3151085
Disease: MASP2 Deficiency
MASP2 Deficiency 		0.710 GeneticVariation disease UNIPROT Inherited deficiency of mannan-binding lectin-associated serine protease 2. 12904520 2003
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: C3151085
Disease: MASP2 Deficiency
MASP2 Deficiency 		0.710 GeneticVariation disease CLINVAR Mannan-binding lectin insufficiency in children with recurrent infections of the respiratory system. 15086395 2004
CUI: C3151085
Disease: MASP2 Deficiency
MASP2 Deficiency 		0.710 GeneticVariation disease CLINVAR Mannan-binding lectin-associated serine protease-2 (MASP-2) deficiency in two patients with pulmonary tuberculosis and one healthy control. 24658431 2015
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: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.400 Biomarker disease HPO
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.400 Biomarker disease CTD_human Inherited deficiency of mannan-binding lectin-associated serine protease 2. 12904520 2003
CUI: C0014742
Disease: Erythema Multiforme
Erythema Multiforme 		0.300 Biomarker disease CTD_human Inherited deficiency of mannan-binding lectin-associated serine protease 2. 12904520 2003
CUI: C0155862
Disease: Streptococcal pneumonia
Streptococcal pneumonia 		0.300 Biomarker disease CTD_human Inherited deficiency of mannan-binding lectin-associated serine protease 2. 12904520 2003
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.100 Biomarker disease HPO
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		0.100 Biomarker disease HPO
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