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: C1709781
Disease: Pyothorax-Associated Lymphoma
Pyothorax-Associated Lymphoma 		disease Neoplastic Process 26 0.010 None 1.000 1 2005 2005
CUI: C1959635
Disease: Parvovirus B19 (disease)
Parvovirus B19 (disease) 		disease Disease or Syndrome 59 0.010 None 1.000 1 2004 2004
CUI: C2745900
Disease: Promyelocytic leukemia
Promyelocytic leukemia 		disease Neoplastic Process 255 2 0.010 None 1.000 1 2018 2018
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood 		disease Neoplastic Process 264 3 0.010 None 1.000 1 2010 2010
CUI: C2895206
Disease: Autoimmune disease (systemic) NOS
Autoimmune disease (systemic) NOS 		disease Disease or Syndrome 37 3 0.010 None 1.000 1 2007 2007
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		disease Disease or Syndrome 384 40 0.010 None 1.000 1 2019 2019
CUI: C3714772
Disease: Recurrent fevers
Recurrent fevers 		phenotype Sign or Symptom 48 4 0.010 None 1.000 1 1999 1999
CUI: C3854333
Disease: Narrowing
Narrowing 		disease Anatomical Abnormality 8 0.010 None 1.000 1 2010 2010
CUI: C4520732
Disease: Stage IV Cutaneous Melanoma AJCC v6 and v7
Stage IV Cutaneous Melanoma AJCC v6 and v7 		disease Neoplastic Process 26 4 0.010 None 1.000 1 2007 2007
CUI: C4521396
Disease: Hunger Vital Sign
Hunger Vital Sign 		phenotype Sign or Symptom 4 0.010 None 1.000 1 1996 1996
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		disease Disease or Syndrome 741 81 0.010 None 1.000 1 2018 2018
CUI: C0024054
Disease: Lown-Ganong-Levine Syndrome
Lown-Ganong-Levine Syndrome 		disease Cardiovascular Diseases Disease or Syndrome 9 0.020 None 1.000 2 2008 2012
CUI: C0026269
Disease: Mitral Valve Stenosis
Mitral Valve Stenosis 		disease Cardiovascular Diseases Disease or Syndrome 170 7 0.020 None 1.000 2 1995 2006
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		disease Cardiovascular Diseases Disease or Syndrome 278 19 0.010 None 1.000 1 1998 1998
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2015 2015
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2015 2015
CUI: C0340629
Disease: Aortic aneurysm without mention of rupture NOS
Aortic aneurysm without mention of rupture NOS 		disease Cardiovascular Diseases Disease or Syndrome 100 4 0.010 None 1.000 1 1998 1998
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		disease Cardiovascular Diseases Disease or Syndrome 773 243 0.010 None 1.000 1 2001 2001
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.100 None 1.000 12 1990 2011
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 138 6 0.020 None 0.500 2 2007 2011
CUI: C1840311
Disease: Laryngeal cleft
Laryngeal cleft 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 72 4 0.010 None 1.000 1 2004 2004
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 852 704 0.030 None 1.000 3 1986 1989
CUI: C1862382
Disease: SVEINSSON CHORIORETINAL ATROPHY
SVEINSSON CHORIORETINAL ATROPHY 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 139 30 0.010 None 1.000 1 2018 2018
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 1987 1987
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome 502 243 0.010 None 1.000 1 1997 1997