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: C3809781
Disease: Cole disease
Cole disease
disease Disease or Syndrome 1 4 0.720 None 1.000 4 4 2009 2018
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.700 moderate 0.814 59 8 2000 2019
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.700 moderate 0.786 28 5 2001 2019
CUI: C1859727
Disease: Arterial calcification of infancy
Arterial calcification of infancy
disease Nutritional and Metabolic Diseases Disease or Syndrome 3 2 0.700 None 1.000 17 2 2003 2018
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE
disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 26 9 0.700 None 1.000 4 1 1981 1999
Hypophosphatemic Rickets, Autosomal Recessive, 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 2 7 0.700 None 1.000 4 7 2005 2015
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
disease Nutritional and Metabolic Diseases Disease or Syndrome 1 28 0.600 None 1.000 8 28 2003 2016
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 0.400 None 1.000 11 1 2012 2019
Autosomal recessive hypophosphatemic vitamin D refractory rickets
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 11 2 0.370 None 1.000 7 2010 2020
CUI: C0014175
Disease: Endometriosis
Endometriosis
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1188 274 0.310 None 1.000 2 2011 2018
CUI: C0269102
Disease: Endometrioma
Endometrioma
disease Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 279 4 0.310 None 1.000 2 2011 2018
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve
disease Cardiovascular Diseases Congenital Abnormality 154 23 0.210 None 1.000 2 2012 2014
CUI: C0428791
Disease: Aortic valve calcification
Aortic valve calcification
disease Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome 79 4 0.210 None 1.000 2 2012 2018
CUI: C0029882
Disease: Otitis Media
Otitis Media
disease Otorhinolaryngologic Diseases Disease or Syndrome 175 8 0.200 None 1.000 4 2013 2017
CUI: C0949691
Disease: Spondylarthropathies
Spondylarthropathies
group Musculoskeletal Diseases Disease or Syndrome 92 7 0.200 None 1.000 3 1981 1997
Osteoarthrosis, localized, not specified whether primary or secondary
disease Musculoskeletal Diseases Disease or Syndrome 28 0.200 None 1.000 3 1981 1997
CUI: C1260873
Disease: Aortic valve disorder
Aortic valve disorder
disease Cardiovascular Diseases Disease or Syndrome 58 0.200 None 1.000 1 2012 2012
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 6 25 0.200 None 1.000 1 2012 2012
Tympanosclerosis involving other combination of structures
disease Otorhinolaryngologic Diseases Disease or Syndrome 1 0.200 None 0
CUI: C1704375
Disease: Hypophosphatemic Rickets
Hypophosphatemic Rickets
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 29 6 0.160 None 1.000 6 2010 2015
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.140 None 0.750 4 2002 2011
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.140 None 1.000 4 2002 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.130 None 1.000 3 2004 2015
CUI: C3887650
Disease: Adult Rickets
Adult Rickets
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 47 0.110 None 1.000 1 2011 2011
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
disease Eye Diseases Disease or Syndrome 13 90 0.110 None 1.000 1 2012 2012