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: C0043119
Disease: Werner Syndrome
Werner Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 130 71 0.010 None 1.000 1 2007 2007
CUI: C0744483
Disease: growth hormone treatment
growth hormone treatment
disease Disease or Syndrome 20 1 0.010 None 1.000 1 2018 2018
CUI: C0085077
Disease: Sweet Syndrome
Sweet Syndrome
disease Skin and Connective Tissue Diseases Disease or Syndrome 104 3 0.010 None 1.000 1 2006 2006
CUI: C0085109
Disease: Corneal Neovascularization
Corneal Neovascularization
disease Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome 117 0.010 None 1.000 1 2019 2019
CUI: C0741281
Disease: atrial fibrillation new onset
atrial fibrillation new onset
disease Disease or Syndrome 18 0.010 None 1.000 1 2019 2019
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 333 115 0.010 None 1.000 1 2013 2013
CUI: C0085278
Disease: Antiphospholipid Syndrome
Antiphospholipid Syndrome
disease Immune System Diseases Disease or Syndrome 99 17 0.010 None 1.000 1 2019 2019
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 196 76 0.010 None 1.000 1 2008 2008
CUI: C0748355
Disease: Acute respiratory distress
Acute respiratory distress
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 147 6 0.010 None 1.000 1 2014 2014
CUI: C0751007
Disease: Intracranial Atherosclerosis
Intracranial Atherosclerosis
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 12 2 0.010 None 1.000 1 2017 2017
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
disease Neoplasms Neoplastic Process 299 4 0.010 None 1.000 1 2006 2006
Multiple Sclerosis, Primary Progressive
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 37 2 0.010 None 1.000 1 2018 2018
CUI: C0751633
Disease: Carotid Artery Plaque
Carotid Artery Plaque
disease Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 41 3 0.010 None 1.000 1 1 2008 2008
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
disease Infections Disease or Syndrome 1256 328 0.010 None 1.000 1 2019 2019
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
disease Infections; Respiratory Tract Diseases Disease or Syndrome 358 171 0.010 None < 0.001 1 2018 2018
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 289 55 0.010 None 1.000 1 2010 2010
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 162 21 0.010 None 1.000 1 2019 2019
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
group Neoplasms Neoplastic Process 569 154 0.010 None 1.000 1 2005 2005
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 2019 2019
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 2006 2006
CUI: C0033300
Disease: Progeria
Progeria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 118 41 0.010 None 1.000 1 2005 2005
CUI: C1332184
Disease: Adult Atypical Meningioma
Adult Atypical Meningioma
disease Neoplastic Process 9 1 0.010 None 1.000 1 2001 2001
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 280 67 0.010 None 1.000 1 2019 2019
CUI: C1262313
Disease: Invasive Fungal Infections
Invasive Fungal Infections
group Infections Disease or Syndrome 52 5 0.010 None 1.000 1 2019 2019
Diarrhoea predominant irritable bowel syndrome
disease Disease or Syndrome 57 8 0.010 None 1.000 1 2013 2013