C3, complement C3, 718

N. diseases: 343; N. variants: 49
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.
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 1 2 0.700 strong 1.000 5 2 1972 2016
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
disease Finding 1 8 0.600 strong 1.000 4 8 2005 2016
Macular Degeneration, Age-Related, 9
disease Eye Diseases Disease or Syndrome 1 1 0.500 None 1.000 2 1 2007 2013
CUI: C0153092
Disease: Mumps meningitis
Mumps meningitis
disease Infections; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 1 0.010 None 1.000 1 1993 1993
CUI: C1400417
Disease: Immune complex nephritis
Immune complex nephritis
disease Disease or Syndrome 1 0.010 None 1.000 1 1993 1993
CUI: C2699419
Disease: Complement C3 Measurement
Complement C3 Measurement
phenotype Laboratory Procedure 1 2 0.100 None 1.000 1 1 2012 2012
MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO
phenotype Finding 1 1 0.100 None 0 1
CUI: C0042386
Disease: Vasculitis, Hemorrhagic
Vasculitis, Hemorrhagic
phenotype Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.300 None 1.000 1 1992 1992
CUI: C0086922
Disease: Rheumatoid Purpura
Rheumatoid Purpura
phenotype Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.300 None 1.000 1 1992 1992
CUI: C0242461
Disease: Purpura, Nonthrombocytopenic
Purpura, Nonthrombocytopenic
phenotype Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.300 None 1.000 1 1992 1992
CUI: C0376362
Disease: Purpura Hemorrhagica
Purpura Hemorrhagica
phenotype Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.300 None 1.000 1 1992 1992
CUI: C0043349
Disease: Xerophthalmia
Xerophthalmia
disease Eye Diseases Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C0264774
Disease: Mitral and aortic incompetence
Mitral and aortic incompetence
disease Cardiovascular Diseases Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
Hypersensitivity reaction mediated by immune complex
disease Immune System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C0941057
Disease: Ulcerative colitis, quiescent
Ulcerative colitis, quiescent
disease Digestive System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C1735608
Disease: SLE flare
SLE flare
disease Disease or Syndrome 5 0.010 None 1.000 1 2020 2020
CUI: C1332655
Disease: Complement component 3 deficiency
Complement component 3 deficiency
disease Disease or Syndrome 6 1 0.630 strong 1.000 15 1 1972 2013
CUI: C4015286
Disease: MACULAR DEGENERATION, EARLY-ONSET
MACULAR DEGENERATION, EARLY-ONSET
disease Disease or Syndrome 6 3 0.010 None 1.000 1 2010 2010
CUI: C4055342
Disease: C3 Glomerulonephritis
C3 Glomerulonephritis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 7 4 0.010 None 1.000 1 2014 2014
CUI: C0242338
Disease: HTLV Infections
HTLV Infections
group Infections; Immune System Diseases Disease or Syndrome 8 0.010 None 1.000 1 1990 1990
CUI: C0268732
Disease: Nephritic syndrome
Nephritic syndrome
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 8 0.010 None 1.000 1 2018 2018
CUI: C0156221
Disease: Acute glomerulonephritis
Acute glomerulonephritis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 9 0.010 None 1.000 1 1993 1993
CUI: C0271073
Disease: Eales disease
Eales disease
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Cardiovascular Diseases Disease or Syndrome 9 0.010 None 1.000 1 2017 2017
CUI: C0009730
Disease: Spinal meningocele
Spinal meningocele
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 10 0.010 None 1.000 1 1996 1996
Membranoproliferative Glomerulonephritis, Type II
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 10 3 0.010 None 1.000 1 2014 2014