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: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
group Hemic and Lymphatic Diseases Neoplastic Process 365 43 0.010 None 1.000 1 2008 2008
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
disease Cardiovascular Diseases Disease or Syndrome 445 293 0.010 None 1.000 1 2006 2006
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.010 None 1.000 1 2006 2006
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 52 7 0.010 None 1.000 1 2018 2018
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 25 12 0.010 None 1.000 1 2019 2019
CUI: C0156847
Disease: Anaemia, postpartum
Anaemia, postpartum
disease Hemic and Lymphatic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 86 30 0.010 None 1.000 1 2019 2019
CUI: C0206172
Disease: Diabetic Foot
Diabetic Foot
disease Skin and Connective Tissue Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 39 13 0.010 None 1.000 1 2019 2019
CUI: C0206369
Disease: Splenosis
Splenosis
disease Hemic and Lymphatic Diseases; Wounds and Injuries Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C0221021
Disease: Microangiopathic hemolytic anemia
Microangiopathic hemolytic anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 31 0.010 None 1.000 1 2017 2017
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
group Nutritional and Metabolic Diseases Disease or Syndrome 471 184 0.010 None 1.000 1 2019 2019
CUI: C0242510
Disease: Drug usage
Drug usage
phenotype Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 170 21 0.010 None 1.000 1 2019 2019
CUI: C0264490
Disease: Acute respiratory failure
Acute respiratory failure
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Respiratory Tract Diseases Disease or Syndrome 78 5 0.010 None 1.000 1 2018 2018
CUI: C0265808
Disease: Cyanotic congenital heart disease
Cyanotic congenital heart disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 14 0.010 None 1.000 1 2001 2001
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 32 233 0.010 None 1.000 1 2008 2008
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 53 8 0.010 None 1.000 1 2000 2000
CUI: C0272405
Disease: Functional asplenia
Functional asplenia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.010 None 1.000 1 1976 1976
CUI: C0278061
Disease: Abnormal mental state
Abnormal mental state
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 24 2 0.010 None 1.000 1 2019 2019
CUI: C0085578
Disease: Thalassemia Minor
Thalassemia Minor
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 18 1 0.010 None 1.000 1 2017 2017
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 179 61 0.010 None 1.000 1 2003 2003
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.010 None 1.000 1 2018 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.010 None 1.000 1 2016 2016
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 304 122 0.010 None 1.000 1 2003 2003
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 389 97 0.010 None 1.000 1 2006 2006
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.010 None 1.000 1 2019 2019