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: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		disease Neoplasms Neoplastic Process 651 21 0.530 None 1.000 3 2015 2019
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		disease Immune System Diseases Disease or Syndrome 207 85 0.320 limited 1.000 2 2016 2016
CUI: C4540380
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 14
IMMUNODEFICIENCY, COMMON VARIABLE, 14 		disease Disease or Syndrome 1 1 0.300 None 1.000 1 1 2016 2016
CUI: C0596887
Disease: mathematical ability
mathematical ability 		phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
CUI: C4552938
Disease: Productive Cough, CTCAE
Productive Cough, CTCAE 		phenotype Finding 17 0.100 None 0
CUI: C0241144
Disease: Petechiae of skin
Petechiae of skin 		phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Sign or Symptom 54 2 0.100 None 0
CUI: C0239134
Disease: Productive Cough
Productive Cough 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 17 0.100 None 0
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 102 3 0.100 None 0
CUI: C0151825
Disease: Bone pain
Bone pain 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 139 0.100 None 0
CUI: C1963077
Disease: Bone Pain, CTCAE 3.0
Bone Pain, CTCAE 3.0 		phenotype Finding 67 0.100 None 0
CUI: C0042571
Disease: Vertigo
Vertigo 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 173 35 0.100 None 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.100 None 0
CUI: C0038362
Disease: Stomatitis
Stomatitis 		disease Stomatognathic Diseases Disease or Syndrome 109 22 0.100 None 0
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 253 15 0.100 None 0
CUI: C0262985
Disease: Psoriasiform eczema
Psoriasiform eczema 		disease Skin and Connective Tissue Diseases Disease or Syndrome 62 0.100 None 0
CUI: C0376480
Disease: Gingival Overgrowth
Gingival Overgrowth 		phenotype Stomatognathic Diseases Finding 100 5 0.100 None 0
CUI: C4476767
Disease: Diffuse alveolar hemorrhage
Diffuse alveolar hemorrhage 		disease Disease or Syndrome 21 0.100 None 0
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 56 4 0.100 None 0
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood 		phenotype Finding 75 5 0.100 None 0
CUI: C4022608
Disease: Oral cavity bleeding
Oral cavity bleeding 		phenotype Pathologic Function 18 0.100 None 0
CUI: C1860320
Disease: Bone marrow hypercellularity
Bone marrow hypercellularity 		phenotype Finding 26 0.100 None 0
CUI: C1262477
Disease: Weight decreased
Weight decreased 		phenotype Pathological Conditions, Signs and Symptoms Finding 271 3 0.100 None 0
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia 		disease Disease or Syndrome 60 14 0.100 None 0
CUI: C4554063
Disease: Bone Pain, CTCAE 5.0
Bone Pain, CTCAE 5.0 		phenotype Finding 67 0.100 None 0
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 277 5 0.100 None 0