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: C3825592
Disease: Thromboembolism in children
Thromboembolism in children 		disease Disease or Syndrome 1 0.010 None 1.000 1 1999 1999
CUI: C1879279
Disease: adult nasal type extranodal NK/T-cell lymphoma
adult nasal type extranodal NK/T-cell lymphoma 		disease Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2017 2017
CUI: C1879280
Disease: childhood nasal type extranodal NK/T-cell lymphoma
childhood nasal type extranodal NK/T-cell lymphoma 		disease Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2017 2017
CUI: C4289946
Disease: B Acute Lymphoblastic Leukemia, Philadelphia Chromosome Negative
B Acute Lymphoblastic Leukemia, Philadelphia Chromosome Negative 		disease Neoplastic Process 8 0.010 None 1.000 1 2018 2018
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 9 57 0.010 None 1.000 1 2005 2005
CUI: C1848200
Disease: SUBCORTICAL BAND HETEROTOPIA, X-LINKED
SUBCORTICAL BAND HETEROTOPIA, X-LINKED 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 10 0.010 None 1.000 1 2018 2018
CUI: C4021028
Disease: Pseudo-fractures
Pseudo-fractures 		disease Anatomical Abnormality 10 0.010 None 1.000 1 2018 2018
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 12 76 0.020 None 1.000 2 2002 2005
CUI: C0205823
Disease: Pleomorphic Lipoma
Pleomorphic Lipoma 		disease Neoplasms Neoplastic Process 13 0.010 None 1.000 1 2000 2000
CUI: C2047886
Disease: (Idiopathic) normal pressure hydrocephalus
(Idiopathic) normal pressure hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 14 0.010 None 1.000 1 2018 2018
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 16 13 0.010 None 1.000 1 2007 2007
CUI: C1260403
Disease: prothrombin gene mutation
prothrombin gene mutation 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 23 5 0.010 None 1.000 1 2010 2010
CUI: C1842402
Disease: TROPICAL CALCIFIC PANCREATITIS
TROPICAL CALCIFIC PANCREATITIS 		disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 24 13 0.010 None 1.000 1 2018 2018
CUI: C1955760
Disease: Idiopathic normal pressure hydrocephalus (INPH)
Idiopathic normal pressure hydrocephalus (INPH) 		disease Disease or Syndrome 25 0.010 None 1.000 1 2018 2018
CUI: C3887558
Disease: Hemophagocytic Syndrome
Hemophagocytic Syndrome 		disease Hemic and Lymphatic Diseases Disease or Syndrome 25 3 0.010 None 1.000 1 2018 2018
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 27 29 0.100 None 1.000 10 1988 2018
CUI: C1292777
Disease: Aggressive natural killer-cell leukemia
Aggressive natural killer-cell leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 30 0.010 None 1.000 1 2005 2005
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 30 3 0.010 None 1.000 1 2018 2018
CUI: C1955906
Disease: Lymphoma, Extranodal NK-T-Cell
Lymphoma, Extranodal NK-T-Cell 		disease Neoplasms Neoplastic Process 33 2 0.020 None 1.000 2 2018 2018
CUI: C0432123
Disease: Sagittal craniosynostosis
Sagittal craniosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 35 13 0.010 None 1.000 1 2015 2015
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 43 8 0.010 None 1.000 1 2015 2015
CUI: C0151798
Disease: Hepatic necrosis
Hepatic necrosis 		phenotype Digestive System Diseases Disease or Syndrome 44 0.020 None 1.000 2 2019 2020
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		disease Nutritional and Metabolic Diseases Disease or Syndrome 46 58 0.020 None 1.000 2 1987 2009
CUI: C0520739
Disease: Hereditary pyropoikilocytosis
Hereditary pyropoikilocytosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 47 23 0.050 None 1.000 5 2007 2019
CUI: C1510420
Disease: Cavitation
Cavitation 		disease Anatomical Abnormality 47 0.010 None 1.000 1 2019 2019