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: C0032584
Disease: polyps
polyps 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 390 18 0.020 None 1.000 2 1983 2019
CUI: C0302142
Disease: Deformity
Deformity 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 2017 2017
CUI: C3888580
Disease: Malignant Bowel Obstruction
Malignant Bowel Obstruction 		phenotype Digestive System Diseases Anatomical Abnormality 6 0.010 None 1.000 1 2019 2019
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 559 48 0.030 None 1.000 3 2014 2017
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 2017 2017
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 59 6 0.010 None 1.000 1 2017 2017
CUI: C0266526
Disease: Norrie disease
Norrie disease 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality 55 28 0.010 None 1.000 1 1987 1987
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.070 None 0.857 7 2017 2020
CUI: C0032227
Disease: Pleural effusion disorder
Pleural effusion disorder 		group Respiratory Tract Diseases Disease or Syndrome 227 14 0.030 None 1.000 3 2016 2019
CUI: C1851585
Disease: MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA 		disease Hemic and Lymphatic Diseases Disease or Syndrome 119 5 0.030 None 1.000 3 2017 2017
CUI: C0016034
Disease: Breast Fibrocystic Disease
Breast Fibrocystic Disease 		disease Skin and Connective Tissue Diseases Disease or Syndrome 114 12 0.020 None 1.000 2 2018 2019
CUI: C0016629
Disease: Fowlpox
Fowlpox 		disease Infections; Animal Diseases Disease or Syndrome 24 0.020 None 1.000 2 2002 2005
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group Digestive System Diseases Disease or Syndrome 1019 100 0.020 None 1.000 2 2016 2019
CUI: C1519680
Disease: Tumor Immunity
Tumor Immunity 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 337 2 0.020 None 1.000 2 1998 2005
CUI: C0005683
Disease: Urinary Bladder Calculi (disorder)
Urinary Bladder Calculi (disorder) 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 10 0.010 None 1.000 1 2017 2017
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		disease Digestive System Diseases Disease or Syndrome 1458 827 0.010 None 1.000 1 1988 1988
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 2019 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.010 None 1.000 1 2017 2017
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 29 13 0.010 None 1.000 1 1983 1983
CUI: C0017178
Disease: Gastrointestinal Diseases
Gastrointestinal Diseases 		group Digestive System Diseases Disease or Syndrome 144 14 0.010 None 1.000 1 1999 1999
CUI: C0018021
Disease: Goiter
Goiter 		phenotype Endocrine System Diseases Disease or Syndrome 142 19 0.010 None 1.000 1 2001 2001
CUI: C0023518
Disease: Leukocytosis
Leukocytosis 		phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 168 4 0.010 None 1.000 1 2019 2019
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1182 189 0.010 None 1.000 1 2019 2019
CUI: C0024115
Disease: Lung diseases
Lung diseases 		group Respiratory Tract Diseases Disease or Syndrome 700 50 0.010 None 1.000 1 2008 2008
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.010 None 1.000 1 2001 2001