MBL2, mannose binding lectin 2, 4153

N. diseases: 563; N. variants: 21
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C4021751
Disease: Recurrent Klebsiella infections
Recurrent Klebsiella infections
phenotype Finding 5 0.100 None 0
Disseminated cryptosporidium infection
disease Infections Disease or Syndrome 1 0.100 None 0
CUI: C1853193
Disease: Recurrent skin infections
Recurrent skin infections
phenotype Infections; Skin and Connective Tissue Diseases Disease or Syndrome 95 2 0.100 None 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
CUI: C1970263
Disease: Recurrent meningococcal disease
Recurrent meningococcal disease
phenotype Finding 5 0.100 None 0
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1175 145 0.020 None 1.000 2 1991 2013
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
disease Neoplasms; Endocrine System Diseases Neoplastic Process 949 103 0.020 None 1.000 2 1991 2013
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1164 135 0.020 None 1.000 2 1991 2013
Multiple Endocrine Neoplasia Type 2a
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process 69 44 0.010 None 1.000 1 1991 1991
CUI: C0029882
Disease: Otitis Media
Otitis Media
disease Otorhinolaryngologic Diseases Disease or Syndrome 175 8 0.060 None 0.833 6 1993 2018
CUI: C2827407
Disease: Infectious Otitis Media
Infectious Otitis Media
disease Otorhinolaryngologic Diseases Disease or Syndrome 146 6 0.060 None 0.833 6 1993 2018
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 25 3 0.700 moderate 0.935 62 2 1994 2019
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
disease Infections Disease or Syndrome 1256 328 0.100 None 0.951 41 4 1994 2019
CUI: C0343458
Disease: Borderline lepromatous leprosy
Borderline lepromatous leprosy
disease Infections Disease or Syndrome 7 0.010 None 1.000 1 1994 1994
CUI: C3714514
Disease: Infection
Infection
group Infections Pathologic Function 491 0.400 None 1.000 14 1995 2008
CUI: C0019693
Disease: HIV Infections
HIV Infections
group Infections; Immune System Diseases Disease or Syndrome 807 142 0.400 None 1.000 17 2 1997 2016
CUI: C0275524
Disease: Coinfection
Coinfection
phenotype Infections Disease or Syndrome 252 11 0.060 None 1.000 6 5 1997 2019
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.100 None 0.891 46 4 1998 2018
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.100 None 0.875 32 5 1998 2019
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.100 None 0.900 20 1 1998 2019
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection
disease Disease or Syndrome 695 94 0.100 None 0.824 17 1 1998 2015
CUI: C2747816
Disease: Complicated malaria
Complicated malaria
disease Infections Disease or Syndrome 166 38 0.050 None 1.000 5 1998 2014
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic
disease Digestive System Diseases; Infections Disease or Syndrome 430 80 0.040 None 1.000 4 1998 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.020 None 1.000 2 1 1998 2013
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
group Immune System Diseases Disease or Syndrome 1758 428 0.100 None 1.000 36 1999 2017