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: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2005 2005
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 489 123 0.010 None 1.000 1 2019 2019
CUI: C2931208
Disease: Usher syndrome, type 1D
Usher syndrome, type 1D 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C0220644
Disease: Childhood Hodgkin Lymphoma
Childhood Hodgkin Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 399 29 0.010 None 1.000 1 2017 2017
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 399 27 0.010 None 1.000 1 2017 2017
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.010 None < 0.001 1 2018 2018
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 900 148 0.010 None 1.000 1 2017 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.010 None 1.000 1 2014 2014
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 118 37 0.010 None 1.000 1 2015 2015
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 766 118 0.010 None 1.000 1 2018 2018
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.010 None < 0.001 1 2018 2018
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.010 None 1.000 1 2014 2014
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		phenotype Neoplastic Process 384 40 0.010 None 1.000 1 2005 2005
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 714 56 0.010 None 1.000 1 2015 2015
CUI: C0339530
Disease: Progressive cone-rod dystrophy
Progressive cone-rod dystrophy 		disease Disease or Syndrome 6 0.010 None 1.000 1 2015 2015
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.010 None 1.000 1 2013 2013
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		disease Disease or Syndrome 384 40 0.010 None 1.000 1 2005 2005
CUI: C0271972
Disease: Thiamine-responsive megaloblastic anemia
Thiamine-responsive megaloblastic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 4 0.010 None 1.000 1 2017 2017
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 194 33 0.020 None 1.000 2 2015 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.020 None 1.000 2 2006 2017
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.020 None 1.000 2 2006 2017
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 191 67 0.030 None 1.000 3 2005 2018
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.030 None 1.000 3 2017 2020
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 254 51 0.040 None 1.000 4 2015 2019
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 4 5 2016 2019