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.
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
disease Eye Diseases Disease or Syndrome 1 5 0.800 31 5 1995 2015
CUI: C0398777
Disease: Complement Factor H Deficiency
Complement Factor H Deficiency
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 4 7 0.790 0.889 27 7 1987 2015
Membranoproliferative Glomerulonephritis, Type II
disease Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Male Urogenital Diseases Disease or Syndrome 9 4 0.700 0.955 23 3 1995 2014
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome
disease Female Urogenital Diseases and Pregnancy Complications; Hemic and Lymphatic Diseases; Male Urogenital Diseases Disease or Syndrome 38 19 0.600 strong 0.971 106 8 2000 2018
Glomerulonephritis, Membranoproliferative
disease Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Male Urogenital Diseases Disease or Syndrome 36 0.600 1.000 25 1995 2016
Membranoproliferative Glomerulonephritis, Type I
disease Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Male Urogenital Diseases Disease or Syndrome 7 0.510 1.000 2 2004 2016
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease Eye Diseases Disease or Syndrome 381 551 0.500 0.963 413 78 2005 2018
Membranoproliferative Glomerulonephritis, Type III
disease Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Male Urogenital Diseases Disease or Syndrome 6 0.500 1 2004 2004
CUI: C0730295
Disease: BASAL LAMINAR DRUSEN (disorder)
BASAL LAMINAR DRUSEN (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 4 0.460 1.000 26 4 2005 2016
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
phenotype Finding 3 17 0.400 22 14 1978 2015
CUI: C0025303
Disease: Meningococcal Infections
Meningococcal Infections
group Bacterial Infections and Mycoses Disease or Syndrome 66 23 0.380 1.000 8 2006 2016
CUI: C0162739
Disease: HELLP Syndrome
HELLP Syndrome
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 43 4 0.320 1.000 2 2009 2013
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome
disease Female Urogenital Diseases and Pregnancy Complications; Hemic and Lymphatic Diseases; Male Urogenital Diseases Disease or Syndrome 61 3 0.300 1.000 60 1 1988 2018
CUI: C1856143
Disease: HEMOLYTIC UREMIC SYNDROME, TYPICAL
HEMOLYTIC UREMIC SYNDROME, TYPICAL
disease Disease or Syndrome 3 4 0.300 8 4 1998 2010
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
group Immune System Diseases Disease or Syndrome 640 10 0.300 1 2004 2004
CUI: C0003257
Disease: Antibody Deficiency Syndrome
Antibody Deficiency Syndrome
disease Immune System Diseases Disease or Syndrome 22 0.300 1 2004 2004
CUI: C1852021
Disease: Drusen, Radial, Autosomal Dominant
Drusen, Radial, Autosomal Dominant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 1 0.300 0
CUI: C1852020
Disease: Malattia Leventinese
Malattia Leventinese
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 6 1 0.300 0
CUI: C1832174
Disease: DOYNE HONEYCOMB RETINAL DYSTROPHY
DOYNE HONEYCOMB RETINAL DYSTROPHY
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 4 1 0.300 0
CUI: C0017665
Disease: Membranous glomerulonephritis
Membranous glomerulonephritis
disease Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Male Urogenital Diseases Disease or Syndrome 94 26 0.210 2 2003 2005
CUI: C0027720
Disease: Nephrosis
Nephrosis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 49 0.200 1 2012 2012
CUI: C0022354
Disease: Jaundice, Obstructive
Jaundice, Obstructive
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 19 0.200 1 2010 2010
Amphetamine or related acting sympathomimetic abuse
disease Mental or Behavioral Dysfunction 2 0.200 1 2012 2012
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration
phenotype Eye Diseases Pathologic Function 88 1 0.200 1 2011 2011
CUI: C0033687
Disease: Proteinuria
Proteinuria
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms Finding 183 5 0.200 1 2012 2012