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: C4509017
Disease: Blastic plasmacytoid dendritic cell neoplasm (BPDCN)
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) 		disease Neoplastic Process 9 0.060 None 1.000 6 2011 2019
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		disease Neoplastic Process 860 154 0.030 None 1.000 3 2016 2018
CUI: C0279593
Disease: Adult B Acute Lymphoblastic Leukemia
Adult B Acute Lymphoblastic Leukemia 		disease Neoplastic Process 74 0.010 None 1.000 1 2019 2019
CUI: C0349636
Disease: Pre B-cell acute lymphoblastic leukemia
Pre B-cell acute lymphoblastic leukemia 		disease Neoplastic Process 90 5 0.010 None 1.000 1 2019 2019
CUI: C0948192
Disease: Primary infection NOS
Primary infection NOS 		disease Disease or Syndrome 65 0.010 None 1.000 1 2017 2017
CUI: C1275321
Disease: Primary cutaneous marginal zone B-cell lymphoma
Primary cutaneous marginal zone B-cell lymphoma 		disease Neoplastic Process 9 0.010 None 1.000 1 2009 2009
CUI: C1333171
Disease: Primary Cutaneous Follicle Center Lymphoma
Primary Cutaneous Follicle Center Lymphoma 		disease Neoplastic Process 19 0.010 None 1.000 1 2009 2009
CUI: C1334657
Disease: Mediastinal B-Cell Lymphoma, Unclassifiable, with Features Intermediate between Diffuse Large B-Cell Lymphoma and Classic Hodgkin Lymphoma
Mediastinal B-Cell Lymphoma, Unclassifiable, with Features Intermediate between Diffuse Large B-Cell Lymphoma and Classic Hodgkin Lymphoma 		disease Neoplastic Process 8 0.010 None 1.000 1 2019 2019
CUI: C1709656
Disease: Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type
Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type 		disease Neoplastic Process 23 4 0.010 None 1.000 1 2009 2009
CUI: C2697636
Disease: Hyperdiploid B Acute Lymphoblastic Leukemia
Hyperdiploid B Acute Lymphoblastic Leukemia 		disease Neoplastic Process 32 13 0.010 None 1.000 1 2016 2016
CUI: C4288891
Disease: Infant T Acute Lymphoblastic Leukemia
Infant T Acute Lymphoblastic Leukemia 		disease Neoplastic Process 75 1 0.010 None 1.000 1 2019 2019
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 1996 1996
CUI: C0238478
Disease: Transient erythroblastopenia of childhood
Transient erythroblastopenia of childhood 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 23 0.010 None 1.000 1 2018 2018
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.010 None 1.000 1 1996 1996
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 394 173 0.010 None 1.000 1 2011 2011
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 360 194 0.010 None 1.000 1 2011 2011
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		disease Digestive System Diseases Disease or Syndrome 1382 1147 0.010 None 1.000 1 2008 2008
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.030 None 1.000 3 2017 2019
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome 		disease Hemic and Lymphatic Diseases Neoplastic Process 335 20 0.020 None 1.000 2 2018 2019
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome 		disease Hemic and Lymphatic Diseases Neoplastic Process 332 20 0.020 None 1.000 2 2018 2019
CUI: C0018939
Disease: Hematological Disease
Hematological Disease 		group Hemic and Lymphatic Diseases Disease or Syndrome 255 16 0.010 None 1.000 1 2019 2019
CUI: C0024205
Disease: Lymphadenitis
Lymphadenitis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 55 2 0.010 None 1.000 1 2016 2016
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 253 15 0.010 None < 0.001 1 2016 2016
CUI: C0221269
Disease: Pseudolymphoma
Pseudolymphoma 		disease Hemic and Lymphatic Diseases Neoplastic Process 58 0.010 None 1.000 1 2009 2009
CUI: C0398367
Disease: Histiocytic Necrotizing Lymphadenitis
Histiocytic Necrotizing Lymphadenitis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 14 0.010 None 1.000 1 2020 2020