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: C1617072
Disease: Infection caused by Lassa virus
Infection caused by Lassa virus 		disease Infections Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C0029877
Disease: Ear Inflammation
Ear Inflammation 		disease Otorhinolaryngologic Diseases Disease or Syndrome 12 2 0.010 None 1.000 1 2018 2018
CUI: C0699744
Disease: Infection of ear
Infection of ear 		group Otorhinolaryngologic Diseases Disease or Syndrome 16 0.010 None 1.000 1 2018 2018
CUI: C0026780
Disease: Mumps
Mumps 		disease Infections; Stomatognathic Diseases Disease or Syndrome 21 0.010 None 1.000 1 2017 2017
CUI: C0023092
Disease: Lassa Fever
Lassa Fever 		disease Infections Disease or Syndrome 22 0.010 None 1.000 1 2018 2018
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 26 129 0.010 None 1.000 1 2019 2019
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 35 111 0.010 None 1.000 1 2016 2016
CUI: C0272199
Disease: Familial Hemophagocytic Lymphocytosis
Familial Hemophagocytic Lymphocytosis 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 35 6 0.010 None 1.000 1 2006 2006
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 41 14 0.010 None 1.000 1 2016 2016
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 48 61 0.010 None 1.000 1 2018 2018
CUI: C4284413
Disease: Severe Fever with Thrombocytopenia Syndrome
Severe Fever with Thrombocytopenia Syndrome 		disease Hemic and Lymphatic Diseases Disease or Syndrome 55 1 0.010 None 1.000 1 2019 2019
CUI: C0019104
Disease: Hemorrhagic Fevers, Viral
Hemorrhagic Fevers, Viral 		disease Infections Disease or Syndrome 57 0.010 None 1.000 1 2018 2018
CUI: C4285693
Disease: HIV-associated neurocognitive disorder
HIV-associated neurocognitive disorder 		disease Infections; Immune System Diseases Disease or Syndrome 61 5 0.010 None 1.000 1 2018 2018
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 73 36 0.010 None 1.000 1 2015 2015
CUI: C0278721
Disease: Adult Lymphoblastic Lymphoma
Adult Lymphoblastic Lymphoma 		disease Neoplastic Process 85 4 0.010 None 1.000 1 2019 2019
CUI: C0279525
Disease: Childhood Lymphoblastic Lymphoma
Childhood Lymphoblastic Lymphoma 		disease Neoplastic Process 85 4 0.010 None 1.000 1 2019 2019
CUI: C0079748
Disease: Precursor cell lymphoblastic lymphoma
Precursor cell lymphoblastic lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 88 4 0.010 None 1.000 1 2019 2019
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 92 32 0.020 None 1.000 2 2012 2018
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 92 10 0.010 None 1.000 1 2016 2016
CUI: C0023283
Disease: Leishmaniasis, Cutaneous
Leishmaniasis, Cutaneous 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 102 17 0.010 None 1.000 1 2017 2017
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 102 38 0.010 None 1.000 1 2014 2014
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 105 23 0.010 None 1.000 1 2017 2017
CUI: C0023646
Disease: Lichen Planus
Lichen Planus 		disease Skin and Connective Tissue Diseases Disease or Syndrome 106 4 0.010 None 1.000 1 2016 2016
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 108 206 0.010 None 1.000 1 2014 2014
CUI: C0242994
Disease: Hantavirus Infections
Hantavirus Infections 		group Infections Disease or Syndrome 108 10 0.010 None 1.000 1 2000 2000