CFH, complement factor H, 3075

N. diseases: 393; N. variants: 150
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, 4 (disorder)
disease Eye Diseases Disease or Syndrome 1 5 0.900 strong 1.000 7 5 2003 2015
Diarrhea-negative hemolytic uremic syndrome
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.020 None 1.000 2 2003 2008
CUI: C0272241
Disease: Complement abnormality
Complement abnormality
disease Disease or Syndrome 1 0.010 None 1.000 1 2009 2009
Verotoxigenic Escherichia coli gastrointestinal tract infection
disease Disease or Syndrome 1 0.010 None 1.000 1 2005 2005
CUI: C0403411
Disease: Endocapillary glomerulonephritis
Endocapillary glomerulonephritis
disease Disease or Syndrome 1 0.010 None 1.000 1 2011 2011
CUI: C0523353
Disease: Complement factor H measurement
Complement factor H measurement
phenotype Laboratory Procedure 1 5 0.100 None 1.000 1 4 2017 2017
CUI: C1444087
Disease: Disease due to Neisseria
Disease due to Neisseria
disease Infections Disease or Syndrome 1 0.010 None 1.000 1 2011 2011
CUI: C1579873
Disease: Retinal thrombosis
Retinal thrombosis
disease Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
Matrix Metalloproteinase 8 Measurement
phenotype Laboratory Procedure 1 2 0.100 None 1.000 1 1 2017 2017
Sepsis caused by Pseudomonas aeruginosa
disease Disease or Syndrome 1 0.010 None 1.000 1 2020 2020
Depletion of components of the alternative complement pathway
phenotype Finding 1 0.100 None 0
Glomerular subendothelial electron-dense deposits
phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C1142126
Disease: Meningococcal bacteraemia
Meningococcal bacteraemia
disease Disease or Syndrome 2 0.010 None 1.000 1 2012 2012
CUI: C1408247
Disease: Renal disease (acute) NOS
Renal disease (acute) NOS
disease Disease or Syndrome 2 0.010 None 1.000 1 1998 1998
CUI: C0152966
Disease: Pneumococcal sepsis
Pneumococcal sepsis
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 3 0.010 None 1.000 1 2011 2011
Amphetamine or related acting sympathomimetic abuse
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 3 0.200 None 1.000 1 2012 2012
CUI: C0242301
Disease: furuncle
furuncle
disease Infections; Skin and Connective Tissue Diseases; Animal Diseases Disease or Syndrome 3 0.010 None 1.000 1 2008 2008
CUI: C0268750
Disease: Necrotizing glomerulonephritis
Necrotizing glomerulonephritis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 3 0.010 None 1.000 1 2012 2012
Nonexudative age-related macular degeneration
disease Eye Diseases Acquired Abnormality 3 0.010 None 1.000 1 2006 2006
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 2008 2008
CUI: C4302342
Disease: Familial hemolytic uremic syndrome
Familial hemolytic uremic syndrome
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2001 2001
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
disease Finding 4 24 0.600 strong 1.000 11 23 1998 2016
CUI: C0398762
Disease: Properdin deficiency disease
Properdin deficiency disease
disease Disease or Syndrome 4 0.010 None 1.000 1 2013 2013
CUI: C0523688
Disease: Hemopexin measurement
Hemopexin measurement
phenotype Laboratory Procedure 4 5 0.100 None 1.000 1 1 2017 2017
CUI: C1969222
Disease: Decreased serum complement factor H
Decreased serum complement factor H
phenotype Finding 4 0.100 None 0