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 CTD_human
CUI: C3151085
Disease: MASP2 Deficiency
MASP2 Deficiency 		0.710 CausalMutation disease CLINVAR
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.400 Biomarker disease HPO
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.400 Biomarker group HPO
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: 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 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 UNIPROT Inherited deficiency of mannan-binding lectin-associated serine protease 2. 12904520 2003
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: C0020951
Disease: Immune Complex Diseases
Immune Complex Diseases 		0.300 Biomarker group CTD_human Inherited deficiency of mannan-binding lectin-associated serine protease 2. 12904520 2003
CUI: C0021368
Disease: Inflammation
Inflammation 		0.300 Biomarker phenotype 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: 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: 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: C0033860
Disease: Psoriasis
Psoriasis 		0.010 GeneticVariation disease BEFREE Functional MASP2 single nucleotide polymorphism plays no role in psoriasis. 15948998 2005
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: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.020 GeneticVariation disease LHGDN The mannan-binding lectin pathway and lung disease in cystic fibrosis--disfunction of mannan-binding lectin-associated serine protease 2 (MASP-2) may be a major modifier. 17045845 2006
CUI: C0018133
Disease: Graft-vs-Host Disease
Graft-vs-Host Disease 		0.010 GeneticVariation disease BEFREE Factors associated with a higher probability of IFIs were donor's MBL-low genotype (38% vs 12%, p = 0.01), recipient's MASP2 variant (67% vs 14%, p = 0.01), and acute graft-versus-host disease (GVHD) grades II to IV (27% vs 11%, p = 0.04); in the multivariate analysis MBL-low genotype (relative risk [RR] 7.3, p = 0.003), MASP2 variant (RR 6.4, p = 0.002), and acute GVHD II to IV (RR 3.8, p = 0.02) retained independent prognostic value. 16982337 2006
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		0.010 Biomarker disease BEFREE C1 inhibitor deficiency and deficiencies of MBL and MASP-2 were not included in the assessment. 16026838 2006
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 AlteredExpression disease BEFREE To determine the expression of MASP-2 protein, we raised a polyclonal antibody to human MASP-2 and used it for immunohistochemical analysis of MASP-2 in ESCCs. 16395704 2006
CUI: C0856825
Disease: Acute GVH disease
Acute GVH disease 		0.010 GeneticVariation disease BEFREE Factors associated with a higher probability of IFIs were donor's MBL-low genotype (38% vs 12%, p = 0.01), recipient's MASP2 variant (67% vs 14%, p = 0.01), and acute graft-versus-host disease (GVHD) grades II to IV (27% vs 11%, p = 0.04); in the multivariate analysis MBL-low genotype (relative risk [RR] 7.3, p = 0.003), MASP2 variant (RR 6.4, p = 0.002), and acute GVHD II to IV (RR 3.8, p = 0.02) retained independent prognostic value. 16982337 2006
CUI: C1262313
Disease: Invasive Fungal Infections
Invasive Fungal Infections 		0.010 GeneticVariation group BEFREE Factors associated with a higher probability of IFIs were donor's MBL-low genotype (38% vs 12%, p = 0.01), recipient's MASP2 variant (67% vs 14%, p = 0.01), and acute graft-versus-host disease (GVHD) grades II to IV (27% vs 11%, p = 0.04); in the multivariate analysis MBL-low genotype (relative risk [RR] 7.3, p = 0.003), MASP2 variant (RR 6.4, p = 0.002), and acute GVHD II to IV (RR 3.8, p = 0.02) retained independent prognostic value. 16982337 2006
CUI: C3714514
Disease: Infection
Infection 		0.010 GeneticVariation group LHGDN The mannan-binding lectin pathway and lung disease in cystic fibrosis--disfunction of mannan-binding lectin-associated serine protease 2 (MASP-2) may be a major modifier. 17045845 2006