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: C0264480
Disease: Bakers' asthma
Bakers' asthma 		disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases; Immune System Diseases; Occupational Diseases Disease or Syndrome 5 0.020 None 1.000 2 2017 2018
CUI: C0271642
Disease: Fibrocalculous pancreatic diabetes
Fibrocalculous pancreatic diabetes 		disease Disease or Syndrome 6 3 0.010 None 1.000 1 1 2002 2002
CUI: C0340537
Disease: Pulmonary fat embolism
Pulmonary fat embolism 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 6 0.010 None 1.000 1 2019 2019
CUI: C4551957
Disease: Epilepsy, Familial Temporal Lobe 1
Epilepsy, Familial Temporal Lobe 1 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome 7 17 0.010 None 1.000 1 2004 2004
CUI: C1838062
Disease: Autosomal Dominant Lateral Temporal Lobe Epilepsy
Autosomal Dominant Lateral Temporal Lobe Epilepsy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome 8 4 0.010 None 1.000 1 2004 2004
CUI: C0341471
Disease: Idiopathic chronic pancreatitis
Idiopathic chronic pancreatitis 		disease Digestive System Diseases Disease or Syndrome 17 16 0.020 None 1.000 2 2002 2005
CUI: C2720436
Disease: Fibrosis of pleura
Fibrosis of pleura 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 19 0.010 None 1.000 1 2018 2018
CUI: C1842402
Disease: TROPICAL CALCIFIC PANCREATITIS
TROPICAL CALCIFIC PANCREATITIS 		disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 24 13 0.010 None 1.000 1 1 2009 2009
CUI: C0264545
Disease: Thickening of pleura
Thickening of pleura 		disease Respiratory Tract Diseases Disease or Syndrome 25 0.010 None 1.000 1 2018 2018
CUI: C0149504
Disease: Encephalopathy, Toxic
Encephalopathy, Toxic 		disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 29 0.300 None 1.000 1 2010 2010
CUI: C0154659
Disease: Toxic Encephalitis
Toxic Encephalitis 		disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 29 0.300 None 1.000 1 2010 2010
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 30 3 0.010 None 1.000 1 2019 2019
CUI: C0235032
Disease: Neurotoxicity Syndromes
Neurotoxicity Syndromes 		group Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 34 0.300 None 1.000 1 2010 2010
CUI: C0263338
Disease: Chronic urticaria
Chronic urticaria 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 39 2 0.010 None 1.000 1 1980 1980
CUI: C0854135
Disease: Pseudomonas aeruginosa infection
Pseudomonas aeruginosa infection 		disease Infections Disease or Syndrome 49 1 0.010 None 1.000 1 2019 2019
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 62 78 0.010 None 1.000 1 2019 2019
CUI: C0086565
Disease: Liver Dysfunction
Liver Dysfunction 		phenotype Digestive System Diseases Finding 73 0.300 None 1.000 1 2010 2010
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		phenotype Anatomical Abnormality 78 37 0.020 None 1.000 2 2 2011 2018
CUI: C4317009
Disease: Diverticular Diseases
Diverticular Diseases 		group Digestive System Diseases Disease or Syndrome 83 88 0.100 None 1.000 1 1 2018 2018
CUI: C4021813
Disease: Oral cleft
Oral cleft 		disease Congenital Abnormality 85 28 0.010 None 1.000 1 2017 2017
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		disease Congenital Abnormality 99 50 0.040 None 1.000 4 4 2010 2018
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		disease Endocrine System Diseases Disease or Syndrome 115 39 0.010 None 1.000 1 3 2008 2008
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		disease Digestive System Diseases Disease or Syndrome 158 108 0.010 None 1.000 1 2 2004 2004
CUI: C0877008
Disease: Enzyme inhibition disorder
Enzyme inhibition disorder 		phenotype Disease or Syndrome 171 1 0.010 None 1.000 1 2018 2018
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 190 75 0.030 None 1.000 3 3 2011 2018