CFHR1, complement factor H related 1, 3078

N. diseases: 90; N. variants: 4
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: C3553720
Disease: CFHR5 DEFICIENCY
CFHR5 DEFICIENCY 		disease Disease or Syndrome 2 3 0.300 None 1.000 1 2013 2013
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 2 2007 2016
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 3 0.010 None 1.000 1 2017 2017
CUI: C0677628
Disease: Macular drusen
Macular drusen 		phenotype Eye Diseases Finding 4 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: C4022807
Disease: Foveal hypopigmentation
Foveal hypopigmentation 		phenotype Finding 4 0.100 None 0
CUI: C0344386
Disease: Schistocytosis
Schistocytosis 		phenotype Laboratory or Test Result 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: C1864205
Disease: Macular Degeneration, Age-Related, 1
Macular Degeneration, Age-Related, 1 		disease Eye Diseases Disease or Syndrome 6 3 0.300 None 0
CUI: C1970257
Disease: Decreased serum complement factor I
Decreased serum complement factor I 		phenotype Finding 7 0.100 None 0
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 0.300 None 1.000 1 2013 2013
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: C1837512
Disease: Decreased serum complement C3
Decreased serum complement C3 		phenotype Finding 12 0.100 None 0
CUI: C4087273
Disease: C3 glomerulopathy
C3 glomerulopathy 		disease Disease or Syndrome 16 1 0.320 strong 1.000 4 2007 2017
CUI: C0003460
Disease: Anuria
Anuria 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 18 0.100 None 0
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: C0221021
Disease: Microangiopathic hemolytic anemia
Microangiopathic hemolytic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 31 0.100 None 0
CUI: C0206160
Disease: Reticulocytosis
Reticulocytosis 		phenotype Pathological Conditions, Signs and Symptoms Finding 40 1 0.100 None 0
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: 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 0.966 29 2006 2019
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 0.010 None 1.000 1 2009 2009
CUI: C1260959
Disease: Drusen
Drusen 		disease Disease or Syndrome 57 18 0.010 None < 0.001 1 2010 2010
CUI: C2717961
Disease: Thrombotic Microangiopathies
Thrombotic Microangiopathies 		group Hemic and Lymphatic Diseases Disease or Syndrome 62 8 0.040 None 1.000 4 2013 2018
CUI: C0973461
Disease: Dysphasia
Dysphasia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 63 4 0.100 None 0
CUI: C0034150
Disease: Purpura
Purpura 		disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 68 1 0.100 None 0