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: 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: 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
Exudative age-related macular degeneration
disease Eye Diseases Disease or Syndrome 158 109 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: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
disease Eye Diseases Disease or Syndrome 85 81 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: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 3197 186 0.010 None 1.000 1 2019 2019
CUI: C4048329
Disease: Immunosuppression
Immunosuppression
disease Disease or Syndrome 632 9 0.010 None 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
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: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 12 9 0.010 None 1.000 1 2013 2013
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease
phenotype Neoplastic Process 384 40 0.010 None 1.000 1 2017 2017
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD
disease Disease or Syndrome 384 40 0.010 None 1.000 1 2017 2017
CUI: C1305904
Disease: Familial hematuria
Familial hematuria
disease Disease or Syndrome 23 7 0.010 None 1.000 1 2012 2012
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: 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 0.010 None 1.000 1 2007 2007
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis
disease Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 503 64 0.010 None 1.000 1 2019 2019
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: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 477 83 0.010 None 1.000 1 2012 2012
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 384 45 0.010 None 1.000 1 2014 2014
CUI: C0035585
Disease: Rickettsia Infections
Rickettsia Infections
group Infections Disease or Syndrome 22 0.010 None 1.000 1 2017 2017
CUI: C0038395
Disease: Streptococcal Infections
Streptococcal Infections
group Infections Disease or Syndrome 34 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