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: C1861194
Disease: Thrombasthenia-Thrombocytopenia, Hereditary
Thrombasthenia-Thrombocytopenia, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1 4 0.710 definitive 1.000 13 4 2002 2019
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.150 None 1.000 5 1 2017 2019
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		phenotype Laboratory or Test Result 593 988 0.100 None 1.000 3 1 2016 2019
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 302 5 0.030 None 1.000 3 2007 2019
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 34 31 0.030 None 1.000 3 1 2016 2019
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		phenotype Laboratory Procedure 593 988 0.100 None 1.000 3 1 2016 2019
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		group Hemic and Lymphatic Diseases Disease or Syndrome 267 31 0.030 None 1.000 3 2013 2019
CUI: C4520840
Disease: Erythroleukemia (Erythroid/Myeloid)
Erythroleukemia (Erythroid/Myeloid) 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 237 4 0.020 None 1.000 2 2018 2019
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia 		disease Neoplastic Process 236 4 0.020 None 1.000 2 2018 2019
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		phenotype Finding 653 1206 0.100 None 1.000 1 1 2019 2019
CUI: C0242584
Disease: Autoimmune thrombocytopenia
Autoimmune thrombocytopenia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 115 7 0.010 None 1.000 1 2019 2019
CUI: C0272286
Disease: Thrombocytopenia due to platelet alloimmunization
Thrombocytopenia due to platelet alloimmunization 		disease Hemic and Lymphatic Diseases Disease or Syndrome 111 7 0.010 None 1.000 1 2019 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 1 2019 2019
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 0.010 None 1.000 1 2019 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 3111 6892 0.040 None 1.000 4 2007 2018
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.130 None 1.000 3 2007 2018
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome 		disease Hemic and Lymphatic Diseases Neoplastic Process 335 20 0.010 None 1.000 1 2018 2018
CUI: C4304021
Disease: Autosomal dominant macrothrombocytopenia
Autosomal dominant macrothrombocytopenia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 9 0.300 None 1.000 1 2018 2018
CUI: C0334070
Disease: Maturation defect
Maturation defect 		phenotype Acquired Abnormality 43 2 0.010 None < 0.001 1 2018 2018
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome 		disease Hemic and Lymphatic Diseases Neoplastic Process 332 20 0.010 None 1.000 1 2018 2018
CUI: C1854520
Disease: SEBASTIAN SYNDROME
SEBASTIAN SYNDROME 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 42 13 0.010 None 1.000 1 2018 2018
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome 		disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 24 4 0.010 None 1.000 1 2017 2017
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		disease Hemic and Lymphatic Diseases Disease or Syndrome 22 1 0.410 None 1.000 1 1 2017 2017
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis 		disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 23 4 0.010 None 1.000 1 2017 2017
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 972 125 0.010 None 1.000 1 2017 2017