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: C0009917
Disease: Contracture
Contracture 		disease Musculoskeletal Diseases Anatomical Abnormality 111 12 0.010 None 1.000 1 2010 2010
CUI: C4025579
Disease: Large beaked nose
Large beaked nose 		disease Anatomical Abnormality 13 0.100 None 0
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: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 60 11 0.100 None 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.100 None 0
CUI: C0078982
Disease: Arhinencephaly
Arhinencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 35 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 74 12 0.100 None 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 385 49 0.100 None 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease Male Urogenital Diseases Congenital Abnormality 217 11 0.100 None 0
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 117 12 0.800 strong 0.978 45 3 2009 2019
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		disease Disease or Syndrome 695 94 0.100 None 0.862 29 1 2011 2019
CUI: C2749659
Disease: AICARDI-GOUTIERES SYNDROME 5 (disorder)
AICARDI-GOUTIERES SYNDROME 5 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 2 22 0.700 None 1.000 18 22 2009 2018
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		disease Disease or Syndrome 985 56 0.100 None 1.000 14 2012 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.100 None 1.000 11 2011 2018
CUI: C0019693
Disease: HIV Infections
HIV Infections 		group Infections; Immune System Diseases Disease or Syndrome 807 142 0.070 None 1.000 7 2012 2019
CUI: C0035369
Disease: Retroviridae Infections
Retroviridae Infections 		group Infections Disease or Syndrome 112 1 0.070 None 1.000 7 2013 2017
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		group Infections Disease or Syndrome 1471 42 0.070 None 1.000 7 2013 2019
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		group Immune System Diseases Disease or Syndrome 973 31 0.060 None 1.000 6 2013 2018
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.040 None 1.000 4 2011 2015
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.040 None 1.000 4 1 2010 2015
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group Nervous System Diseases Disease or Syndrome 457 64 0.040 None 1.000 4 2011 2017
CUI: C0375021
Disease: Human immunodeficiency virus, type 2 [HIV-2] infection in conditions classified elsewhere and of unspecified site
Human immunodeficiency virus, type 2 [HIV-2] infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 38 0.040 None 1.000 4 2013 2019
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 688 40 0.030 None 1.000 3 2010 2017
CUI: C0456097
Disease: Congenital viral disease
Congenital viral disease 		group Infections Disease or Syndrome 1 0.030 None 1.000 3 2011 2015