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: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 105 49 0.620 limited 1.000 2 2009 2013
CUI: C0751356
Disease: Idiopathic Inflammatory Myopathies
Idiopathic Inflammatory Myopathies 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 106 4 0.010 None 1.000 1 2015 2015
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 2018 2018
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE 		phenotype Finding 108 0.100 None 0
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 114 7 0.100 None 0
CUI: C0086981
Disease: Sicca Syndrome
Sicca Syndrome 		disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome 132 4 0.010 None 1.000 1 2009 2009
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		disease Disease or Syndrome 133 54 0.020 None 1.000 2 2 2018 2019
CUI: C1842981
Disease: NEUROTICISM
NEUROTICISM 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 141 54 0.010 None 1.000 1 2017 2017
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: C3887499
Disease: Renal cyst
Renal cyst 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 170 17 0.100 None 0
CUI: C0085655
Disease: Polymyositis
Polymyositis 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 183 22 0.020 None 1.000 2 2 2014 2015
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		disease Immune System Diseases Disease or Syndrome 207 85 0.010 None 1.000 1 2015 2015
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 0.020 None 1.000 2 1 2014 2015
CUI: C0027055
Disease: Myocardial Reperfusion Injury
Myocardial Reperfusion Injury 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 226 0.200 None 1.000 1 2008 2008
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 235 34 0.020 None 1.000 2 1 2014 2015
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 < 0.001 1 1 2010 2010
CUI: C0014060
Disease: Encephalitis, St. Louis
Encephalitis, St. Louis 		disease Infections; Nervous System Diseases Disease or Syndrome 272 34 0.030 None 1.000 3 1 2009 2017
CUI: C0042384
Disease: Vasculitis
Vasculitis 		disease Cardiovascular Diseases Disease or Syndrome 294 24 0.010 None 1.000 1 2015 2015
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 0.030 None 1.000 3 2 2011 2013
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		group Respiratory Tract Diseases Disease or Syndrome 319 144 0.020 None 1.000 2 2014 2015
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		disease Endocrine System Diseases Disease or Syndrome 335 131 0.010 None 1.000 1 1 2019 2019
CUI: C0079773
Disease: Lymphoma, T-Cell, Cutaneous
Lymphoma, T-Cell, Cutaneous 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 367 5 0.010 None 1.000 1 2017 2017
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		disease Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 370 195 0.460 None 1.000 7 44 2012 2017
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 1 1 2019 2019
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		disease Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 446 176 0.020 None 1.000 2 2 2016 2017