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: C1969799
Disease: Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases Disease or Syndrome 2 6 0.710 None 1.000 4 6 2006 2012
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 0.310 strong 1.000 1 2017 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.140 None 1.000 4 2007 2017
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		group Immune System Diseases Disease or Syndrome 973 31 0.120 None 1.000 2 2015 2017
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 4 3 2008 2019
CUI: C0489786
Disease: Height
Height 		phenotype Organism Attribute 249 517 0.100 None 1.000 1 1 2008 2008
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.100 None 0
CUI: C1855067
Disease: B lymphocytopenia
B lymphocytopenia 		phenotype Immune System Diseases; Hemic and Lymphatic Diseases Finding 13 0.100 None 0
CUI: C1844383
Disease: Recurrent bacterial infection
Recurrent bacterial infection 		phenotype Infections Finding 69 0.100 None 0
CUI: C1837758
Disease: Bird-like facies
Bird-like facies 		phenotype Finding 12 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 244 40 0.100 None 0
CUI: C1837066
Disease: Recurrent viral infection
Recurrent viral infection 		phenotype Infections Finding 32 0.100 None 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		phenotype Finding 123 13 0.100 None 0
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		phenotype Finding 69 8 0.100 None 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		phenotype Finding 149 5 0.100 None 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.100 None 0
CUI: C2931322
Disease: T-Lymphocytopenia
T-Lymphocytopenia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Finding 17 0.100 None 0
CUI: C0004368
Disease: Autoimmune state
Autoimmune state 		phenotype Pathologic Function 70 0.100 None 0
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood 		phenotype Finding 75 5 0.100 None 0
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.020 None 1.000 2 2019 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 2017 2017
CUI: C4303792
Disease: Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome 		disease Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		disease Neoplasms Neoplastic Process 3197 186 0.010 None 1.000 1 2019 2019
CUI: C1368107
Disease: Aplastic bone marrow
Aplastic bone marrow 		disease Hemic and Lymphatic Diseases Disease or Syndrome 6 0.010 None 1.000 1 2017 2017
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 238 30 0.010 None 1.000 1 2017 2017