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: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 1756 711 0.010 None 1.000 1 2019 2019
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.010 None 1.000 1 2014 2014
CUI: C0037952
Disease: Spinocerebellar Degeneration
Spinocerebellar Degeneration
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 14 1 0.010 None 1.000 1 2015 2015
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 156 4 0.010 None 1.000 1 2015 2015
CUI: C0270749
Disease: Marie Cerebellar Ataxia
Marie Cerebellar Ataxia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 0.010 None 1.000 1 2012 2012
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect
disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 59 123 0.010 None 1.000 1 2019 2019
CUI: C0751772
Disease: REM Sleep Behavior Disorder
REM Sleep Behavior Disorder
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 46 16 0.010 None 1.000 1 2019 2019
Dentatorubral-Pallidoluysian Atrophy
disease Nervous System Diseases Disease or Syndrome 95 0.010 None 1.000 1 2012 2012
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction
phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2020 2020
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 434 138 0.010 None 1.000 1 2019 2019