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: C0023223
Disease: Leg Ulcer
Leg Ulcer
disease Skin and Connective Tissue Diseases Disease or Syndrome 40 0.010 None 1.000 1 1991 1991
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 53 13 0.040 None 1.000 4 1992 2019
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
disease Hemic and Lymphatic Diseases Disease or Syndrome 154 31 0.030 None 1.000 3 1992 2019
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 577 441 0.010 None 1.000 1 1992 1992
CUI: C0398568
Disease: Blood group deletion syndrome
Blood group deletion syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 3 0.010 None 1.000 1 1994 1994
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection
disease Disease or Syndrome 695 94 0.020 None 1.000 2 1996 2003
Human immunodeficiency virus (HIV) II infection category B1
disease Disease or Syndrome 985 56 0.010 None 1.000 1 1996 1996
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.040 None 1.000 4 1997 2019
CUI: C1861821
Disease: CATARACT, MARNER TYPE
CATARACT, MARNER TYPE
disease Eye Diseases Disease or Syndrome 63 5 0.010 None 1.000 1 1999 1999
CUI: C2919945
Disease: Cavernous Hemangioma of Brain
Cavernous Hemangioma of Brain
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Anatomical Abnormality 127 43 0.010 None 1.000 1 1999 1999
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.040 None 1.000 4 2000 2019
CUI: C0011847
Disease: Diabetes
Diabetes
disease Endocrine System Diseases Disease or Syndrome 2359 710 0.040 None 1.000 4 2000 2019
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.030 None 0.667 3 2000 2019
Transfusion associated graft versus host disease
disease Disease or Syndrome 3 0.010 None < 0.001 1 2000 2000
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2000 2000
CUI: C0001430
Disease: Adenoma
Adenoma
group Neoplasms Neoplastic Process 1183 103 0.010 None 1.000 1 2000 2000
CUI: C0023493
Disease: Adult T-Cell Lymphoma/Leukemia
Adult T-Cell Lymphoma/Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 540 11 0.010 None 1.000 1 2000 2000
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: C0282193
Disease: Iron Overload
Iron Overload
disease Nutritional and Metabolic Diseases Disease or Syndrome 241 53 0.020 None 1.000 2 2001 2016
Autoimmune Lymphoproliferative Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 65 22 0.010 None 1.000 1 2001 2001
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: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
group Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 827 60 0.010 None 1.000 1 2001 2001
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 852 704 0.010 None 1.000 1 2001 2001
CUI: C0037054
Disease: Sickle Cell Trait
Sickle Cell Trait
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 75 16 0.020 None 1.000 2 2002 2018
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
disease Digestive System Diseases Disease or Syndrome 1382 1147 0.020 None 1.000 2 2003 2016