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: 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: C0015826
Disease: Fenestration (morphologic abnormality)
Fenestration (morphologic abnormality) 		disease Acquired Abnormality 43 0.010 None 1.000 1 2018 2018
CUI: C0271083
Disease: Nonexudative age-related macular degeneration
Nonexudative age-related macular degeneration 		disease Eye Diseases Acquired Abnormality 3 0.010 None 1.000 1 2006 2006
CUI: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 626 0.010 None 1.000 1 2012 2012
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis 		disease Acquired Abnormality 115 15 0.010 None 1.000 1 1 2006 2006
CUI: C0031094
Disease: Periodontal Pocket
Periodontal Pocket 		disease Stomatognathic Diseases Anatomical Abnormality 28 0.020 None 1.000 2 2013 2014
CUI: C3888461
Disease: Dry age-related macular degeneration
Dry age-related macular degeneration 		phenotype Anatomical Abnormality 11 1 0.020 None 1.000 2 1 2006 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: C4476539
Disease: Glomerular subendothelial electron-dense deposits
Glomerular subendothelial electron-dense deposits 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C0042834
Disease: Vital capacity
Vital capacity 		phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2019 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2019 2019
CUI: C0266292
Disease: Congenital anomaly of the kidney
Congenital anomaly of the kidney 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 63 4 0.010 None 1.000 1 2015 2015
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 69 7 0.010 None 1.000 1 1 2009 2009
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease Eye Diseases Disease or Syndrome 685 663 0.500 None 0.961 486 85 2005 2019
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 0.700 None 0.983 175 14 1999 2019
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 0.400 None 0.989 94 1 1988 2019
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 194 269 0.100 None 0.950 60 5 2006 2019
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		disease Eye Diseases Disease or Syndrome 158 109 0.200 None 0.982 57 9 2005 2018
CUI: C0017662
Disease: Glomerulonephritis, Membranoproliferative
Glomerulonephritis, Membranoproliferative 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 57 3 0.600 None 1.000 26 3 1994 2015
CUI: C1260959
Disease: Drusen
Drusen 		disease Disease or Syndrome 57 18 0.200 None 1.000 25 3 2005 2019
CUI: C2717961
Disease: Thrombotic Microangiopathies
Thrombotic Microangiopathies 		group Hemic and Lymphatic Diseases Disease or Syndrome 62 8 0.100 None 0.958 24 2 2002 2019
CUI: C0268743
Disease: Membranoproliferative Glomerulonephritis, Type II
Membranoproliferative Glomerulonephritis, Type II 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 10 3 0.700 strong 1.000 23 3 1994 2016
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		disease Disease or Syndrome 56 67 0.100 None 0.864 22 7 2008 2017
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 456 130 0.200 None 0.952 21 2 1991 2020
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