CFHR5, complement factor H related 5, 81494

N. diseases: 43; N. variants: 14
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 0.700 None 1.000 7 3 2010 2017
CUI: C0018965
Disease: Hematuria
Hematuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 235 31 0.420 None 0.750 4 2010 2019
CUI: C4087273
Disease: C3 glomerulopathy
C3 glomerulopathy 		disease Disease or Syndrome 16 1 0.370 None 1.000 9 2011 2018
CUI: C0473237
Disease: Frank hematuria
Frank hematuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 9 1 0.300 None 1.000 2 2013 2014
CUI: C0035078
Disease: Kidney Failure
Kidney Failure 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 378 36 0.300 None 1.000 2 2013 2014
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease Digestive System Diseases Disease or Syndrome 420 15 0.300 None 1.000 1 2016 2016
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 42 0.300 moderate 1.000 1 2017 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.300 None 0 1
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease Eye Diseases Disease or Syndrome 685 663 0.120 None 0.833 6 6 2009 2016
CUI: C0017658
Disease: Glomerulonephritis
Glomerulonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 391 7 0.120 None 1.000 2 2010 2012
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 666 194 0.120 None 1.000 2 2012 2012
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.100 None 0.882 17 1 2010 2019
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 2 2 2018 2018
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		disease Eye Diseases Disease or Syndrome 158 109 0.100 None 1.000 1 1 2016 2016
CUI: C2237660
Disease: exudative macular degeneration
exudative macular degeneration 		disease Eye Diseases Disease or Syndrome 49 69 0.100 None 1.000 1 1 2016 2016
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		phenotype Laboratory Procedure 55 427 0.100 None 1.000 1 5 2013 2013
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		disease Eye Diseases Disease or Syndrome 85 81 0.100 None 1.000 1 1 2016 2016
CUI: C1167912
Disease: Coagulation factor measurement
Coagulation factor measurement 		phenotype Laboratory Procedure 14 26 0.100 None 1.000 1 1 2013 2013
CUI: C4055342
Disease: C3 Glomerulonephritis
C3 Glomerulonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 7 4 0.060 None 1.000 6 2013 2019
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1074 306 0.040 None 1.000 4 2012 2012
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 0.030 None 1.000 3 2011 2013
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 827 425 0.030 None 1.000 3 2011 2012
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 0.030 None 0.667 3 2016 2018
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.030 None 1.000 3 2011 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 0.030 None 1.000 3 2006 2013