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: C0221248
Disease: Tophus
Tophus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Acquired Abnormality 14 3 0.010 None 1.000 1 2 2017 2017
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 2 2 2019 2019
CUI: C0018816
Disease: Heart Septal Defects
Heart Septal Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 77 12 0.010 None 1.000 1 2 2014 2014
Autosomal recessive retinitis pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 82 31 0.010 None 1.000 1 2000 2000
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Congenital Abnormality 11 20 0.010 None 1.000 1 2000 2000
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 1 1 2018 2018
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 196 76 0.500 None 1.000 34 4 2011 2019
CUI: C0018099
Disease: Gout
Gout
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 205 2354 0.450 None 1.000 19 53 2008 2019
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 206 2356 0.120 None 1.000 15 52 2008 2019
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42 0.100 None 1.000 11 2005 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.080 None 0.875 8 1 2005 2019
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 294 116 0.080 None 1.000 8 2003 2018
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.080 None 1.000 8 2012 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.070 None 1.000 7 1 2008 2019
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 57 323 0.070 None 1.000 7 2000 2017
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 852 704 0.060 None 1.000 6 1 2005 2015
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.250 None 1.000 6 1 2012 2019
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
phenotype Disease or Syndrome 45 24 0.060 None 1.000 6 1997 2010
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1074 306 0.060 None 1.000 6 2015 2018
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.240 None 1.000 5 1 2012 2019
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
disease Infections Disease or Syndrome 1256 328 0.050 None 1.000 5 2009 2020
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 141 13 0.050 None 1.000 5 1996 2002
CUI: C0008370
Disease: Cholestasis
Cholestasis
disease Digestive System Diseases Disease or Syndrome 420 15 0.040 None 1.000 4 2006 2019
CUI: C0023530
Disease: Leukopenia
Leukopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 440 153 0.040 None 1.000 4 1 2007 2018
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 389 97 0.040 None 1.000 4 1 2007 2018