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: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		group Digestive System Diseases; Neoplasms Neoplastic Process 538 154 0.300 None 1.000 1 2016 2016
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.300 None 1.000 1 2008 2008
CUI: C0278161
Disease: Ataxia, Motor
Ataxia, Motor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 16 0.300 None 1.000 1 2011 2011
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 74 0.300 None 1.000 1 2016 2016
CUI: C0006309
Disease: Brucellosis
Brucellosis 		disease Infections Disease or Syndrome 92 30 0.300 None 1.000 1 2002 2002
CUI: C2231324
Disease: Brucellosis, Pulmonary
Brucellosis, Pulmonary 		disease Infections Disease or Syndrome 1 0.300 None 1.000 1 2002 2002
CUI: C0028064
Disease: Niemann-Pick Diseases
Niemann-Pick Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 25 23 0.240 None 1.000 4 2006 2019
CUI: C0348489
Disease: Other sphingolipidosis
Other sphingolipidosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 7 0.200 None 1.000 1 2017 2017
CUI: C1850363
Disease: Niemann-Pick Disease, Nova Scotian Type
Niemann-Pick Disease, Nova Scotian Type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.200 None 1.000 1 2017 2017
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.150 None 1.000 5 2 1999 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.120 None 1.000 3 1 2010 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.110 None 1.000 2 1 2013 2019
CUI: C0497327
Disease: Dementia
Dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.110 None 1.000 1 2016 2016
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.110 None 1.000 1 3 2018 2018
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 1553 320 0.100 None 0.973 73 3 1998 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.947 19 1989 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.100 None 1.000 17 2006 2019
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 130 8 0.100 None 1.000 14 2010 2020
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.100 None 1.000 14 2002 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.100 None 1.000 11 2007 2018
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 9 7 2015 2019
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 7 2 1997 2012
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.100 None 1.000 7 2 1997 2012
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		phenotype Laboratory Procedure 563 1418 0.100 None 1.000 2 2 2012 2018
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		phenotype Laboratory Procedure 545 1440 0.100 None 1.000 2 2 2012 2018