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: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease Eye Diseases Disease or Syndrome 685 663 0.500 moderate 1.000 16 4 2006 2017
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: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 456 130 0.350 None 1.000 6 2011 2017
CUI: C4087273
Disease: C3 glomerulopathy
C3 glomerulopathy
disease Disease or Syndrome 16 1 0.320 strong 1.000 4 2007 2017
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
disease Finding 4 24 0.300 strong 1.000 2 2007 2016
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: C3553720
Disease: CFHR5 DEFICIENCY
CFHR5 DEFICIENCY
disease Disease or Syndrome 2 3 0.300 None 1.000 1 2013 2013
Macular Degeneration, Age-Related, 1
disease Eye Diseases Disease or Syndrome 6 3 0.300 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: 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 0.140 None 1.000 4 2007 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: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.110 None 1.000 1 2012 2012
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss
phenotype Finding 77 11 0.100 None 0
CUI: C0677628
Disease: Macular drusen
Macular drusen
phenotype Eye Diseases Finding 4 0.100 None 0
CUI: C1837512
Disease: Decreased serum complement C3
Decreased serum complement C3
phenotype Finding 12 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: C0034150
Disease: Purpura
Purpura
disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 68 1 0.100 None 0
CUI: C0344386
Disease: Schistocytosis
Schistocytosis
phenotype Laboratory or Test Result 5 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: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 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: C0206160
Disease: Reticulocytosis
Reticulocytosis
phenotype Pathological Conditions, Signs and Symptoms Finding 40 1 0.100 None 0
CUI: C1969222
Disease: Decreased serum complement factor H
Decreased serum complement factor H
phenotype Finding 4 0.100 None 0