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: C0281710
Disease: Childhood Large Cell Lymphoma
Childhood Large Cell Lymphoma 		disease Neoplastic Process 30 0.010 None 1.000 1 2010 2010
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype Finding 271 106 0.100 None 0
CUI: C0554101
Disease: Villous atrophy
Villous atrophy 		phenotype Finding 19 0.100 None 0
CUI: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia 		phenotype Finding 20 2 0.100 None 0
CUI: C1844384
Disease: Recurrent fungal infections
Recurrent fungal infections 		phenotype Finding 20 2 0.100 None 0
CUI: C1849426
Disease: Lack of T cell function
Lack of T cell function 		phenotype Finding 7 0.100 None 0
CUI: C1854495
Disease: Recurrent infection of the gastrointestinal tract
Recurrent infection of the gastrointestinal tract 		phenotype Finding 16 0.100 None 0
CUI: C1855781
Disease: Cutaneous anergy
Cutaneous anergy 		phenotype Finding 6 0.100 None 0
CUI: C1860128
Disease: Recurrent candida infections
Recurrent candida infections 		phenotype Finding 12 1 0.100 None 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		phenotype Finding 175 0.100 None 0
CUI: C1963279
Disease: Viral Hepatitis, CTCAE 3
Viral Hepatitis, CTCAE 3 		phenotype Finding 4 0.100 None 0
CUI: C2673462
Disease: Recurrent Staphylococcus aureus infections
Recurrent Staphylococcus aureus infections 		phenotype Finding 11 1 0.100 None 0
CUI: C3163798
Disease: Recurrent lower respiratory tract infection
Recurrent lower respiratory tract infection 		phenotype Disease or Syndrome 23 0.100 None 0
CUI: C4025202
Disease: Recurrent protozoan infections
Recurrent protozoan infections 		phenotype Finding 4 0.100 None 0
CUI: C4476717
Disease: Decreased circulating beta-2-microglobulin level
Decreased circulating beta-2-microglobulin level 		phenotype Finding 4 0.100 None 0
CUI: C4531154
Disease: Abnormal CD4:CD8 ratio
Abnormal CD4:CD8 ratio 		phenotype Finding 5 0.100 None 0
CUI: C4531158
Disease: Reduced MHC II surface expression
Reduced MHC II surface expression 		phenotype Cell or Molecular Dysfunction 4 0.100 None 0
CUI: C4531166
Disease: Decreased lymphocyte proliferation in response to mitogen
Decreased lymphocyte proliferation in response to mitogen 		phenotype Cell or Molecular Dysfunction 13 0.100 None 0
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 510 56 0.010 None < 0.001 1 2017 2017
CUI: C2931418
Disease: Bare lymphocyte syndrome 2
Bare lymphocyte syndrome 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 27 6 0.730 None 0.833 6 3 1998 2012
CUI: C0242583
Disease: Bare Lymphocyte Syndrome
Bare Lymphocyte Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 24 0.020 None 1.000 2 1999 2005
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 86 11 0.020 None 1.000 2 2003 2011
CUI: C0451696
Disease: Major histocompatibility complex class II deficiency
Major histocompatibility complex class II deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2010 2010
CUI: C1859535
Disease: Bare Lymphocyte Syndrome, Type II, Complementation Group B
Bare Lymphocyte Syndrome, Type II, Complementation Group B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C0014335
Disease: Enteritis
Enteritis 		disease Digestive System Diseases Disease or Syndrome 85 2 0.010 None 1.000 1 2017 2017