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: C0263680
Disease: Chronic arthritis
Chronic arthritis
disease Musculoskeletal Diseases Disease or Syndrome 30 1 0.010 None < 0.001 1 2013 2013
CUI: C1258104
Disease: Diffuse Scleroderma
Diffuse Scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 56 5 0.020 None 1.000 2 2 2009 2010
CUI: C0242380
Disease: Libman-Sacks Disease
Libman-Sacks Disease
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 59 0.300 None 1.000 1 2008 2008
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 74 0.010 None 1.000 1 2019 2019
CUI: C0424574
Disease: Duration of sleep
Duration of sleep
phenotype Finding 104 203 0.100 None 1.000 2 1 2019 2019
CUI: C0178468
Disease: Autoimmune thyroid disease
Autoimmune thyroid disease
disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 107 15 0.010 None 1.000 1 2013 2013
CUI: C0005823
Disease: Blood Pressure
Blood Pressure
phenotype Organism Function 109 220 0.100 None 1.000 1 1 2012 2012
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 120 122 0.100 None 1.000 2 2 2016 2017
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement
phenotype Laboratory Procedure 135 624 0.100 None 1.000 1 1 2013 2013
CUI: C0949690
Disease: Spondylarthritis
Spondylarthritis
disease Musculoskeletal Diseases Disease or Syndrome 158 23 0.010 None 1.000 1 2013 2013
CUI: C0085409
Disease: Polyendocrinopathies, Autoimmune
Polyendocrinopathies, Autoimmune
group Immune System Diseases; Endocrine System Diseases Disease or Syndrome 166 21 0.020 None 0.500 2 2009 2015
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease Digestive System Diseases Disease or Syndrome 188 276 0.100 None 1.000 1 1 2016 2016
Platelet mean volume determination (procedure)
phenotype Laboratory Procedure 223 371 0.100 None 1.000 1 1 2016 2016
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
group Endocrine System Diseases Disease or Syndrome 230 26 0.010 None 1.000 1 1 2013 2013
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 235 34 0.010 None 1.000 1 1 2019 2019
CUI: C0021670
Disease: insulinoma
insulinoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 258 8 0.010 None 1.000 1 2009 2009
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis
disease Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 260 78 0.010 None 1.000 1 1 2010 2010
CUI: C0014060
Disease: Encephalitis, St. Louis
Encephalitis, St. Louis
disease Infections; Nervous System Diseases Disease or Syndrome 272 34 0.010 None 1.000 1 2 2016 2016
CUI: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome
disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome 312 42 0.010 None < 0.001 1 3 2013 2013
CUI: C0011644
Disease: Scleroderma
Scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 316 5 0.010 None 1.000 1 2010 2010
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
group Respiratory Tract Diseases Disease or Syndrome 319 144 0.010 None 1.000 1 2016 2016
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease
disease Endocrine System Diseases Disease or Syndrome 335 131 0.010 None 1.000 1 1 2013 2013
CUI: C0018133
Disease: Graft-vs-Host Disease
Graft-vs-Host Disease
disease Immune System Diseases Disease or Syndrome 447 25 0.010 None 1.000 1 1 2016 2016
Precursor B-cell lymphoblastic leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 478 23 0.010 None 1.000 1 2016 2016
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 1 2018 2018