CFHR3, complement factor H related 3, 10878

N. diseases: 55; N. variants: 5
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: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease Eye Diseases Disease or Syndrome 685 663 0.500 moderate 1.000 17 2 2006 2019
CUI: C0025303
Disease: Meningococcal Infections
Meningococcal Infections 		group Infections Disease or Syndrome 69 32 0.420 None 1.000 3 1 2010 2015
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 0.400 None 1.000 13 1 2007 2019
CUI: C1864205
Disease: Macular Degeneration, Age-Related, 1
Macular Degeneration, Age-Related, 1 		disease Eye Diseases Disease or Syndrome 6 3 0.400 None 0 1
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 0.370 None 1.000 8 2011 2020
CUI: C2749604
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 		disease Finding 4 24 0.300 strong 1.000 1 2007 2007
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 42 0.300 moderate 0
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 0.130 None 1.000 3 2007 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.120 None 0.500 2 2012 2018
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		disease Eye Diseases Disease or Syndrome 85 81 0.110 None 1.000 1 2012 2012
CUI: C0700225
Disease: Serum creatinine raised
Serum creatinine raised 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 27 2 0.100 None 0
CUI: C0206160
Disease: Reticulocytosis
Reticulocytosis 		phenotype Pathological Conditions, Signs and Symptoms Finding 40 1 0.100 None 0
CUI: C0221021
Disease: Microangiopathic hemolytic anemia
Microangiopathic hemolytic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 31 0.100 None 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		phenotype Finding 77 11 0.100 None 0
CUI: C1837512
Disease: Decreased serum complement C3
Decreased serum complement C3 		phenotype Finding 12 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: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0
CUI: C0344386
Disease: Schistocytosis
Schistocytosis 		phenotype Laboratory or Test Result 5 0.100 None 0
CUI: C1969222
Disease: Decreased serum complement factor H
Decreased serum complement factor H 		phenotype Finding 4 0.100 None 0
CUI: C0973461
Disease: Dysphasia
Dysphasia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 63 4 0.100 None 0
CUI: C0677628
Disease: Macular drusen
Macular drusen 		phenotype Eye Diseases Finding 4 0.100 None 0
CUI: C0151539
Disease: Blood urea increased
Blood urea increased 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 12 0.100 None 0
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Injury or Poisoning 185 3 0.100 None 0
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 472 83 0.100 None 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.100 None 0