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: 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 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 Lectin pathway of complement activation in a Polish woman with MASP-2 deficiency. 24332888 2014
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: 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 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 Mannan-binding lectin insufficiency in children with recurrent infections of the respiratory system. 15086395 2004
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: 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: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.400 Biomarker group 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: 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: 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: 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: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. 29273807 2018
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
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