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: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		phenotype Organism Attribute 565 1138 0.100 None 1.000 1 1 2019 2019
CUI: C0549523
Disease: Oropharynx (excludes nasopharynx)
Oropharynx (excludes nasopharynx) 		disease Disease or Syndrome 94 5 0.010 None 1.000 1 2019 2019
CUI: C0860040
Disease: BCG infection
BCG infection 		disease Disease or Syndrome 37 0.010 None 1.000 1 2018 2018
CUI: C3889112
Disease: Autoimmune adrenal insufficiency
Autoimmune adrenal insufficiency 		disease Disease or Syndrome 2 0.010 None 1.000 1 2006 2006
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: C0850715
Disease: Abnormality of blood and blood-forming tissues
Abnormality of blood and blood-forming tissues 		disease Finding 23 1 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: C4018871
Disease: Abnormality of the respiratory system
Abnormality of the respiratory system 		disease Anatomical Abnormality 16 0.100 None 0
CUI: C4021753
Disease: Abnormality of the immune system
Abnormality of the immune system 		disease Pathologic Function 34 3 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: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		disease Cardiovascular Diseases Disease or Syndrome 440 139 0.030 None 1.000 3 1 2013 2016