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: C0272290
Disease: Drug-induced immune thrombocytopenia
Drug-induced immune thrombocytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2003 2003
CUI: C1282968
Disease: von Willebrand Disease, Type 2A
von Willebrand Disease, Type 2A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 4 17 0.020 None 1.000 2 1992 2004
CUI: C3641106
Disease: Congenital Bleeding Disorder
Congenital Bleeding Disorder 		disease Hemic and Lymphatic Diseases Disease or Syndrome 4 2 0.010 None 1.000 1 1990 1990
CUI: C0751484
Disease: Sporadic Retinoblastoma
Sporadic Retinoblastoma 		disease Neoplasms; Eye Diseases Neoplastic Process 7 0.010 None 1.000 1 2005 2005
CUI: C1280798
Disease: Von Willebrand disease, platelet type
Von Willebrand disease, platelet type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 8 2 0.060 None 0.833 6 1991 2009
CUI: C1282971
Disease: von Willebrand Disease, Type 2B
von Willebrand Disease, Type 2B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 8 12 0.030 None 1.000 3 1996 2013
CUI: C2826321
Disease: Refractory Thrombocytopenia
Refractory Thrombocytopenia 		disease Hemic and Lymphatic Diseases Neoplastic Process 22 1 0.010 None 1.000 1 2015 2015
CUI: C3853779
Disease: Neonatal Alloimmune Thrombocytopenia
Neonatal Alloimmune Thrombocytopenia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 29 1 0.010 None 1.000 1 2000 2000
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 34 31 0.030 None 1.000 3 2002 2019
CUI: C0343640
Disease: African Burkitt's lymphoma
African Burkitt's lymphoma 		disease Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 36 5 0.010 None 1.000 1 2011 2011
CUI: C0085090
Disease: Lymphoma, AIDS-Related
Lymphoma, AIDS-Related 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 37 0.010 None 1.000 1 2002 2002
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 46 23 0.100 None 0.964 28 2 1988 2019
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 48 61 0.010 None 1.000 1 2013 2013
CUI: C0221269
Disease: Pseudolymphoma
Pseudolymphoma 		disease Hemic and Lymphatic Diseases Neoplastic Process 58 0.010 None 1.000 1 2011 2011
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 62 78 0.010 None 1.000 1 2010 2010
CUI: C2717836
Disease: Steroid Sulfatase Deficiency Disease
Steroid Sulfatase Deficiency Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 181 5 0.010 None 1.000 1 2008 2008
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 199 10 0.010 None 1.000 1 2008 2008
CUI: C4551687
Disease: Sarcoma of soft tissue
Sarcoma of soft tissue 		group Neoplasms Neoplastic Process 258 6 0.010 None 1.000 1 2008 2008
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		group Hemic and Lymphatic Diseases Disease or Syndrome 267 31 0.090 None 1.000 9 1999 2012
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain 		disease Neoplasms; Nervous System Diseases Neoplastic Process 294 16 0.010 None 1.000 1 2010 2010
CUI: C0398650
Disease: Immune thrombocytopenic purpura
Immune thrombocytopenic purpura 		disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 338 35 0.030 None 1.000 3 1995 2018
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		disease Neoplastic Process 356 40 0.010 None 1.000 1 2003 2003
CUI: C0376618
Disease: Endotoxemia
Endotoxemia 		phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 401 5 0.010 None 1.000 1 2013 2013
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 539 19 0.010 None 1.000 1 2004 2004
CUI: C0025500
Disease: Mesothelioma
Mesothelioma 		disease Neoplasms Neoplastic Process 560 4 0.010 None 1.000 1 1997 1997