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: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases Congenital Abnormality 21 19 0.010 None 1.000 1 2016 2016
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 414 16 0.010 None 1.000 1 2019 2019
CUI: C0042029
Disease: Urinary tract infection
Urinary tract infection 		group Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 219 14 0.010 None 1.000 1 2015 2015
CUI: C0039240
Disease: Supraventricular tachycardia
Supraventricular tachycardia 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 50 7 0.010 None 1.000 1 2017 2017
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 284 46 0.010 None 1.000 1 2008 2008
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis 		disease Musculoskeletal Diseases Disease or Syndrome 82 1 0.010 None < 0.001 1 2007 2007
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2019 2019
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1171 66 0.010 None 1.000 1 1996 1996
CUI: C1318485
Disease: Liver regeneration disorder
Liver regeneration disorder 		phenotype Digestive System Diseases Disease or Syndrome 346 0.010 None 1.000 1 2019 2019
CUI: C1301355
Disease: Myelodysplastic-Myeloproliferative Diseases
Myelodysplastic-Myeloproliferative Diseases 		group Hemic and Lymphatic Diseases Neoplastic Process 38 1 0.010 None 1.000 1 2013 2013
CUI: C1292769
Disease: Precursor B-cell lymphoblastic leukemia
Precursor B-cell lymphoblastic leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 478 23 0.010 None 1.000 1 1996 1996
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1169 66 0.010 None 1.000 1 1996 1996
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 0.010 None 1.000 1 2017 2017
CUI: C0398639
Disease: Amegakaryocytic thrombocytopenia
Amegakaryocytic thrombocytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 7 0.110 None 1.000 1 2008 2008
CUI: C0033027
Disease: Preleukemia
Preleukemia 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 19 0.010 None 1.000 1 2012 2012
CUI: C1275668
Disease: Melanotic medulloblastoma
Melanotic medulloblastoma 		disease Neoplasms Neoplastic Process 43 0.300 None 1.000 1 2009 2009
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 138 6 0.010 None 1.000 1 1994 1994
CUI: C0085278
Disease: Antiphospholipid Syndrome
Antiphospholipid Syndrome 		disease Immune System Diseases Disease or Syndrome 99 17 0.010 None 1.000 1 2018 2018
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 639 50 0.110 None 1.000 1 2020 2020
CUI: C0272282
Disease: Thrombocytopenia, cyclic
Thrombocytopenia, cyclic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C0272293
Disease: Chronic idiopathic thrombocytopenic purpura
Chronic idiopathic thrombocytopenic purpura 		disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		disease Neoplasms Neoplastic Process 771 25 0.300 None 1.000 1 2009 2009
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		disease Neoplasms Neoplastic Process 762 24 0.300 None 1.000 1 2009 2009
CUI: C0410719
Disease: Deformity of bone
Deformity of bone 		group Musculoskeletal Diseases Anatomical Abnormality 17 2 0.010 None 1.000 1 2019 2019
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1395 73 0.010 None 1.000 1 2016 2016