CFI, complement factor I, 3426

N. diseases: 133; N. variants: 25
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 Factor I (C3 inactivator) deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 6 12 0.720 strong 1.000 6 3 1996 2017
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
disease Finding 1 13 0.600 strong 1.000 8 13 2004 2016
MACULAR DEGENERATION, AGE-RELATED, 13
disease Disease or Syndrome 1 1 0.600 strong 1.000 2 1 2013 2013
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease Eye Diseases Disease or Syndrome 685 663 0.500 None 0.960 25 4 2009 2019
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 56 4 0.400 strong 1.000 1 2013 2013
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 56 42 0.390 None 1.000 9 2005 2018
CUI: C0162739
Disease: HELLP Syndrome
HELLP Syndrome
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 77 10 0.320 None 1.000 2 2008 2012
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease
group Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 42 0.310 strong 0.500 2 2013 2016
CUI: C1852021
Disease: Drusen, Radial, Autosomal Dominant
Drusen, Radial, Autosomal Dominant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 0.300 None 1.000 1 2015 2015
CUI: C1832174
Disease: DOYNE HONEYCOMB RETINAL DYSTROPHY
DOYNE HONEYCOMB RETINAL DYSTROPHY
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 9 1 0.300 None 1.000 1 2015 2015
CUI: C1852020
Disease: Malattia Leventinese
Malattia Leventinese
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 7 1 0.300 None 1.000 1 2015 2015
CUI: C4087273
Disease: C3 glomerulopathy
C3 glomerulopathy
disease Disease or Syndrome 16 1 0.300 strong 1.000 1 2016 2016
CUI: C0018781
Disease: Noise-induced hearing loss
Noise-induced hearing loss
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Injury or Poisoning 33 1 0.200 None 1.000 1 2013 2013
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 110 7 0.160 None 1.000 6 2005 2012
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
disease Eye Diseases Disease or Syndrome 85 81 0.120 None 1.000 3 2 2016 2018
Exudative age-related macular degeneration
disease Eye Diseases Disease or Syndrome 158 109 0.110 None 0.500 2 2 2014 2016
CUI: C0042384
Disease: Vasculitis
Vasculitis
disease Cardiovascular Diseases Disease or Syndrome 294 24 0.110 None 1.000 1 2018 2018
Vasculitis, Leukocytoclastic, Cutaneous
disease Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 18 1 0.110 None 1.000 1 1 2015 2015
CUI: C2973529
Disease: Leukocytoclastic vasculitis
Leukocytoclastic vasculitis
disease Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 11 1 0.110 None 1.000 1 1 2015 2015
CUI: C2237660
Disease: exudative macular degeneration
exudative macular degeneration
disease Eye Diseases Disease or Syndrome 49 69 0.100 None 1.000 1 2 2016 2016
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia
disease Disease or Syndrome 60 14 0.100 None 0
CUI: C0423428
Disease: Scarred macula
Scarred macula
phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 4 0.100 None 0
CUI: C0565599
Disease: Maternal hypertension
Maternal hypertension
disease Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases Disease or Syndrome 52 22 0.100 None 0
CUI: C0581354
Disease: Recurrent sinusitis
Recurrent sinusitis
disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 41 3 0.100 None 0
CUI: C0427437
Disease: MCH - low
MCH - low
phenotype Finding 5 0.100 None 0