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: C0410719
Disease: Deformity of bone
Deformity of bone 		group Musculoskeletal Diseases Anatomical Abnormality 17 2 0.010 None 1.000 1 2019 2019
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype Cell or Molecular Dysfunction 151 0.100 None 0
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: C0026985
Disease: Myelodysplasia
Myelodysplasia 		disease Congenital Abnormality 181 4 0.120 None 1.000 2 2000 2020
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: C0266464
Disease: Polymicrogyria
Polymicrogyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 199 29 0.010 None 1.000 1 2016 2016
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: 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
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: C0432073
Disease: Defect of skull ossification
Defect of skull ossification 		group Congenital Abnormality 23 1 0.100 None 0
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		disease Hemic and Lymphatic Diseases Disease or Syndrome 220 37 0.500 None 0.980 101 10 1994 2020
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 0.100 None 0.984 61 2013 2020
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.400 None 1.000 38 3 1998 2020
CUI: C0242584
Disease: Autoimmune thrombocytopenia
Autoimmune thrombocytopenia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 115 7 0.100 None 1.000 26 2014 2020
CUI: C0272286
Disease: Thrombocytopenia due to platelet alloimmunization
Thrombocytopenia due to platelet alloimmunization 		disease Hemic and Lymphatic Diseases Disease or Syndrome 111 7 0.100 None 1.000 26 2014 2020
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 93 12 0.500 None 0.957 23 3 2004 2018
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 7 5 0.390 None 1.000 9 4 2000 2012
CUI: C0341439
Disease: Chronic liver disease
Chronic liver disease 		group Digestive System Diseases Disease or Syndrome 196 14 0.060 None 1.000 6 2018 2019
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 253 15 0.150 None 1.000 5 2006 2017
CUI: C3275998
Disease: THROMBOCYTHEMIA 2
THROMBOCYTHEMIA 2 		disease Disease or Syndrome 1 4 0.600 strong 1.000 5 4 2004 2015
CUI: C3277671
Disease: THROMBOCYTHEMIA 1
THROMBOCYTHEMIA 1 		disease Disease or Syndrome 5 4 0.100 None 1.000 4 1 2008 2010
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.130 None 1.000 3 1 2007 2013
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.030 None 1.000 3 2005 2017
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 238 30 0.020 None 1.000 2 2013 2019