C2, complement C2, 717

N. diseases: 71; N. variants: 39
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.
MACULAR DEGENERATION, AGE-RELATED, 14
disease Disease or Syndrome 2 0.300 None 0
CUI: C4554010
Disease: Isomerism (body)
Isomerism (body)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 9 0.010 None 1.000 1 2018 2018
CUI: C1291077
Disease: Abdominal bloating
Abdominal bloating
phenotype Digestive System Diseases Sign or Symptom 10 0.010 None 1.000 1 2019 2019
CUI: C3150275
Disease: COMPLEMENT COMPONENT 2 DEFICIENCY
COMPLEMENT COMPONENT 2 DEFICIENCY
disease Disease or Syndrome 11 4 0.770 strong 0.900 10 4 1975 2010
CUI: C2698399
Disease: Myeloperoxidase Measurement
Myeloperoxidase Measurement
phenotype Laboratory Procedure 15 16 0.100 None 1.000 1 1 2013 2013
CUI: C0162823
Disease: Dermatitis, Irritant
Dermatitis, Irritant
disease Skin and Connective Tissue Diseases Disease or Syndrome 29 0.300 None 1.000 1 2016 2016
CUI: C0272178
Disease: Drug-induced neutropenia
Drug-induced neutropenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 41 54 0.100 None 1.000 1 1 2018 2018
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease
group Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 42 0.330 strong 1.000 4 1985 2010
CUI: C2237660
Disease: exudative macular degeneration
exudative macular degeneration
disease Eye Diseases Disease or Syndrome 49 69 0.100 None 1.000 1 1 2012 2012
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 54 7 0.020 None 0.500 2 1983 1985
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test)
phenotype Laboratory Procedure 55 427 0.100 None 1.000 1 1 2019 2019
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy
disease Disease or Syndrome 56 67 0.030 None 1.000 3 3 2012 2015
CUI: C0263666
Disease: Dermatomyositis, Childhood Type
Dermatomyositis, Childhood Type
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 62 1 0.300 None 1.000 1 1987 1987
CUI: C0009326
Disease: Collagen Diseases
Collagen Diseases
group Skin and Connective Tissue Diseases Disease or Syndrome 63 10 0.010 None 1.000 1 1976 1976
CUI: C0034150
Disease: Purpura
Purpura
disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 68 1 0.100 None 0
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
disease Eye Diseases Disease or Syndrome 85 81 0.100 None 1.000 1 1 2012 2012
CUI: C0162830
Disease: Dermatitis, Phototoxic
Dermatitis, Phototoxic
disease Skin and Connective Tissue Diseases Disease or Syndrome 89 0.010 None 1.000 1 2017 2017
CUI: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin
group Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 111 4 0.010 None 1.000 1 1979 1979
CUI: C0424678
Disease: Lean body mass
Lean body mass
phenotype Clinical Attribute 144 211 0.100 None 1.000 1 1 2019 2019
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO
phenotype Finding 147 526 0.100 None 1.000 1 1 2010 2010
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
phenotype Finding 147 526 0.100 None 1.000 1 1 2010 2010
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO
phenotype Finding 147 526 0.100 None 1.000 1 1 2010 2010
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
disease Finding 149 527 0.100 None 1.000 1 1 2010 2010
CUI: C0036323
Disease: Schistosomiasis
Schistosomiasis
disease Infections Disease or Syndrome 152 4 0.010 None 1.000 1 2017 2017
Exudative age-related macular degeneration
disease Eye Diseases Disease or Syndrome 158 109 0.100 None 1.000 1 1 2012 2012