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: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		phenotype Finding 100 26 0.100 None 0
CUI: C1858312
Disease: Megakaryocytopenia
Megakaryocytopenia 		phenotype Finding 3 0.100 None 0
CUI: C1860320
Disease: Bone marrow hypercellularity
Bone marrow hypercellularity 		phenotype Finding 26 0.100 None 0
CUI: C1963099
Disease: Myelodysplasia, CTCAE
Myelodysplasia, CTCAE 		phenotype Finding 68 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C3277190
Disease: THROMBOCYTHEMIA 2, SOMATIC
THROMBOCYTHEMIA 2, SOMATIC 		disease Finding 1 1 0.100 None 0 1
CUI: C4023026
Disease: Abnormal megakaryocyte morphology
Abnormal megakaryocyte morphology 		disease Finding 10 0.100 None 0
CUI: C4025187
Disease: Increased megakaryocyte count
Increased megakaryocyte count 		phenotype Finding 7 0.100 None 0
CUI: C4025272
Disease: Peripheral arterial stenosis
Peripheral arterial stenosis 		disease Disease or Syndrome 124 5 0.100 None 0
CUI: C4477095
Disease: Increased lactate dehydrogenase activity
Increased lactate dehydrogenase activity 		phenotype Finding 27 0.100 None 0
CUI: C4552670
Disease: Portal Vein Thrombosis, CTCAE
Portal Vein Thrombosis, CTCAE 		phenotype Finding 7 0.100 None 0
CUI: C0040053
Disease: Thrombosis
Thrombosis 		phenotype Cardiovascular Diseases Pathologic Function 98 0.020 None 1.000 2 2005 2008
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis 		disease Cardiovascular Diseases Disease or Syndrome 59 8 0.110 None 1.000 1 2019 2019
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		disease Cardiovascular Diseases Disease or Syndrome 152 16 0.010 None 1.000 1 2017 2017
CUI: C4022560
Disease: Splanchnic vein thrombosis
Splanchnic vein thrombosis 		disease Cardiovascular Diseases Disease or Syndrome 15 2 0.010 None 1.000 1 2008 2008
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.100 None 0
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis 		phenotype Cardiovascular Diseases Pathologic Function 117 218 0.100 None 0
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.010 None 1.000 1 2006 2006
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: C0018816
Disease: Heart Septal Defects
Heart Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 77 12 0.100 None 0
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: C1327915
Disease: Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Congenital Abnormality 7 25 1.000 strong 1.000 34 23 1994 2018
CUI: C4273671
Disease: Inherited predisposition to essential thrombocythemia
Inherited predisposition to essential thrombocythemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.020 None 1.000 2 2004 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 0.010 None 1.000 1 2017 2017
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0