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: 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: C1567741
Disease: Alport Syndrome
Alport Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 51 314 0.010 None 1.000 1 2013 2013
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: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 2 2 2018 2018
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: C4087273
Disease: C3 glomerulopathy
C3 glomerulopathy 		disease Disease or Syndrome 16 1 0.370 None 1.000 9 2011 2018
CUI: C3553720
Disease: CFHR5 DEFICIENCY
CFHR5 DEFICIENCY 		disease Disease or Syndrome 2 3 0.700 None 1.000 7 3 2010 2017
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease Digestive System Diseases Disease or Syndrome 420 15 0.300 None 1.000 1 2016 2016
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: 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: C1167912
Disease: Coagulation factor measurement
Coagulation factor measurement 		phenotype Laboratory Procedure 14 26 0.100 None 1.000 1 1 2013 2013
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: C0272240
Disease: Disorder of complement
Disorder of complement 		group Immune System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2011 2011
CUI: C3714534
Disease: dowling-degos disease
dowling-degos disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 53 7 0.020 None 1.000 2 2006 2013
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: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.020 None 1.000 2 2011 2017
CUI: C1305904
Disease: Familial hematuria
Familial hematuria 		disease Disease or Syndrome 23 7 0.010 None 1.000 1 2012 2012
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: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		disease Eye Diseases Disease or Syndrome 85 81 0.100 None 1.000 1 1 2016 2016
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		disease Neoplasms Neoplastic Process 3197 186 0.010 None 1.000 1 2019 2019
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: 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 2006 2006
CUI: C3888104
Disease: Glomerulopathy with fibronectin deposits
Glomerulopathy with fibronectin deposits 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2017 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