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: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 75 37 0.110 None 1.000 1 2018 2018
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 613 283 0.110 None 1.000 1 2018 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.110 None 1.000 1 2 2013 2013
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		group Respiratory Tract Diseases Disease or Syndrome 319 144 0.100 None 1.000 38 1 2009 2019
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 218 31 0.100 None 1.000 37 1 2010 2020
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 235 34 0.100 None 1.000 37 1 2010 2020
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		group Infections Disease or Syndrome 1471 42 0.100 None 1.000 26 1 2007 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.100 None 0.962 26 1 2007 2019
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.100 None 0.846 13 2002 2019
CUI: C0014378
Disease: Enterovirus Infections
Enterovirus Infections 		group Infections Disease or Syndrome 237 12 0.100 None 0.700 10 6 2010 2019
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		phenotype Pathologic Function 41 56 0.100 None 1.000 1 1 2020 2020
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		group Digestive System Diseases Disease or Syndrome 1577 605 0.100 None 1.000 1 1 2015 2015
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases Sign or Symptom 127 21 0.100 None 1.000 1 1 2020 2020
CUI: C0031256
Disease: Petechiae
Petechiae 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 11 5 0.100 None 1.000 1 1 2020 2020
CUI: C0202202
Disease: Protein measurement
Protein measurement 		group Laboratory Procedure 75 422 0.100 None 1.000 1 1 2010 2010
CUI: C0202083
Disease: Immunoglobulin A measurement
Immunoglobulin A measurement 		phenotype Laboratory Procedure 4 5 0.100 None 1.000 1 1 2010 2010
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		disease Digestive System Diseases Disease or Syndrome 188 276 0.100 None 1.000 1 3 2016 2016
CUI: C0751740
Disease: Lenticulostriate Vasculopathy
Lenticulostriate Vasculopathy 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1 1 0.100 None 1.000 1 1 2020 2020
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		disease Digestive System Diseases Disease or Syndrome 1458 827 0.100 None 1.000 1 3 2016 2016
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.100 None 1.000 1 1 2020 2020
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		disease Digestive System Diseases Disease or Syndrome 1382 1147 0.100 None 1.000 1 3 2016 2016
CUI: C0151526
Disease: Premature Birth
Premature Birth 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 192 50 0.100 None 1.000 1 1 2020 2020
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		phenotype Laboratory Procedure 27 52 0.100 None 1.000 1 1 2011 2011
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		disease Musculoskeletal Diseases Disease or Syndrome 710 609 0.100 None 1.000 1 3 2016 2016
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 413 70 0.100 None 1.000 1 1 2020 2020