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.
CUI: C0398777
Disease: Complement Factor H Deficiency
Complement Factor H Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 5 9 0.800 strong 0.947 19 9 1990 2016
CUI: C0730295
Disease: BASAL LAMINAR DRUSEN (disorder)
BASAL LAMINAR DRUSEN (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 5 5 0.650 strong 1.000 5 5 2007 2016
CUI: C1533060
Disease: Multifocal choroiditis
Multifocal choroiditis 		disease Disease or Syndrome 5 1 0.020 None 1.000 2 1 2008 2013
CUI: C4703391
Disease: Choroidal vascular hyperpermeability
Choroidal vascular hyperpermeability 		phenotype Anatomical Abnormality 5 3 0.020 None 1.000 2 2 2014 2016
CUI: C0398677
Disease: Ocular sarcoidosis
Ocular sarcoidosis 		disease Infections; Eye Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 5 1 0.010 None 1.000 1 1 2013 2013
CUI: C1268936
Disease: Diarrhea-associated hemolytic uremic syndrome
Diarrhea-associated hemolytic uremic syndrome 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 5 0.010 None 1.000 1 2013 2013
CUI: C1956258
Disease: Familial Thrombotic Thrombocytopenic Purpura
Familial Thrombotic Thrombocytopenic Purpura 		disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 5 0.010 None 1.000 1 2005 2005
CUI: C4055018
Disease: Familial Atypical Hemolytic Uremic Syndrome
Familial Atypical Hemolytic Uremic Syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C0344386
Disease: Schistocytosis
Schistocytosis 		phenotype Laboratory or Test Result 5 0.100 None 0
CUI: C0427437
Disease: MCH - low
MCH - low 		phenotype Finding 5 0.100 None 0
CUI: C4021636
Disease: Decreased serum complement factor B
Decreased serum complement factor B 		phenotype Finding 5 0.100 None 0
CUI: C1720821
Disease: Membranoproliferative Glomerulonephritis, Type III
Membranoproliferative Glomerulonephritis, Type III 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 6 0.500 None 1.000 2 2004 2011
CUI: C3463916
Disease: Complement Factor I (C3 inactivator) deficiency
Complement Factor I (C3 inactivator) deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 6 12 0.020 None 1.000 2 1994 2005
CUI: C0035022
Disease: Tick-borne relapsing fever
Tick-borne relapsing fever 		disease Infections Disease or Syndrome 6 0.010 None 1.000 1 2006 2006
CUI: C1332655
Disease: Complement component 3 deficiency
Complement component 3 deficiency 		disease Disease or Syndrome 6 1 0.010 None 1.000 1 2006 2006
CUI: C3280642
Disease: Complement Component 4a Deficiency
Complement Component 4a Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 6 0.010 None 1.000 1 1991 1991
CUI: C4055342
Disease: C3 Glomerulonephritis
C3 Glomerulonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 7 4 0.070 None 1.000 7 1 2011 2020
CUI: C0302810
Disease: Uremia syndrome
Uremia syndrome 		disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 7 1 0.060 None 1.000 6 2006 2019
CUI: C0268742
Disease: Membranoproliferative Glomerulonephritis, Type I
Membranoproliferative Glomerulonephritis, Type I 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 7 0.520 None 1.000 4 2004 2017
CUI: C1720251
Disease: Retinal pigment epithelium atrophy
Retinal pigment epithelium atrophy 		disease Acquired Abnormality 7 2 0.020 None 1.000 2 1 2016 2017
CUI: C0730315
Disease: Acute central serous chorioretinopathy
Acute central serous chorioretinopathy 		disease Infections; Eye Diseases Disease or Syndrome 7 3 0.010 None 1.000 1 3 2019 2019
CUI: C1852020
Disease: Malattia Leventinese
Malattia Leventinese 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 7 1 0.300 None 1.000 1 2008 2008
CUI: C0445347
Disease: Thickening of glomerular basement membrane
Thickening of glomerular basement membrane 		phenotype Finding 7 0.100 None 0
CUI: C1970257
Disease: Decreased serum complement factor I
Decreased serum complement factor I 		phenotype Finding 7 0.100 None 0
CUI: C3280641
Disease: Decreased serum complement C4b
Decreased serum complement C4b 		disease Disease or Syndrome 8 0.010 None 1.000 1 1991 1991