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: C4329303
Disease: Anemia due to Decreased Production
Anemia due to Decreased Production
disease Hemic and Lymphatic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2007 2007
Adult Extraskeletal Myxoid Chondrosarcoma
disease Neoplasms Neoplastic Process 23 0.030 None 1.000 3 1999 2002
Transient erythroblastopenia of childhood
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 23 0.020 None 1.000 2 1997 2002
Adult Desmoplastic Small Round Cell Tumor
disease Neoplasms Neoplastic Process 32 0.010 None 1.000 1 1997 1997
Childhood Desmoplastic Small Round Cell Tumor
disease Neoplasms Neoplastic Process 32 0.010 None 1.000 1 1997 1997
CUI: C0281508
Disease: Desmoplastic Small Round Cell Tumor
Desmoplastic Small Round Cell Tumor
disease Neoplasms Neoplastic Process 43 0.010 None 1.000 1 1997 1997
CUI: C0034902
Disease: Pure Red-Cell Aplasia
Pure Red-Cell Aplasia
disease Hemic and Lymphatic Diseases Disease or Syndrome 49 7 0.010 None 1.000 1 2019 2019
CUI: C1275278
Disease: Extraskeletal Myxoid Chondrosarcoma
Extraskeletal Myxoid Chondrosarcoma
disease Neoplasms Neoplastic Process 50 0.050 None 1.000 5 1999 2012
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 86 38 0.010 None 1.000 1 2002 2002
CUI: C0037579
Disease: Soft Tissue Neoplasms
Soft Tissue Neoplasms
group Neoplasms Neoplastic Process 145 0.010 None 1.000 1 1997 1997
CUI: C0024809
Disease: Marijuana Abuse
Marijuana Abuse
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 156 23 0.010 None 1.000 1 2020 2020
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis
disease Digestive System Diseases Disease or Syndrome 190 22 0.010 None 1.000 1 2013 2013
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 194 269 0.010 None 1.000 1 2017 2017
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
Autoimmune Chronic Hepatitis
disease Digestive System Diseases; Immune System Diseases Disease or Syndrome 213 23 0.010 None 1.000 1 2013 2013
CUI: C0040100
Disease: Thymoma
Thymoma
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 291 20 0.010 None 1.000 1 1999 1999
CUI: C1368683
Disease: Epithelioma
Epithelioma
disease Neoplasms Neoplastic Process 326 2 0.010 None 1.000 1 2009 2009
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
disease Hemic and Lymphatic Diseases Neoplastic Process 332 20 0.010 None 1.000 1 1994 1994
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome
disease Hemic and Lymphatic Diseases Neoplastic Process 335 20 0.010 None 1.000 1 1994 1994
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
disease Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome 336 93 0.010 None 1.000 1 1999 1999
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
disease Neoplasms Neoplastic Process 385 8 0.030 None 1.000 3 1999 2012
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 418 117 0.020 None 1.000 2 2019 2020
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
group Digestive System Diseases; Neoplasms Neoplastic Process 538 154 0.010 None 1.000 1 2019 2019
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.010 None 1.000 1 2017 2017
CUI: C0019158
Disease: Hepatitis
Hepatitis
group Digestive System Diseases Disease or Syndrome 656 42 0.010 None 1.000 1 2013 2013
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease Eye Diseases Disease or Syndrome 685 663 0.010 None 1.000 1 2017 2017