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: C1860127
Disease: Impaired T cell function
Impaired T cell function 		phenotype Cell or Molecular Dysfunction 18 0.100 None 0
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases Congenital Abnormality 37 253 0.010 None 1.000 1 2018 2018
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 139 9 0.100 None 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 20 0.100 None 0
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		disease Immune System Diseases Disease or Syndrome 207 85 0.700 limited 1.000 46 4 1986 2019
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		disease Disease or Syndrome 1 9 0.600 None 1.000 20 9 2005 2017
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		disease Immune System Diseases Disease or Syndrome 89 4 0.400 None 1.000 19 2 1999 2014
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.100 None 1.000 13 2 1986 2018
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.280 None 1.000 10 2 2001 2019
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 72 25 0.070 None 1.000 7 2005 2009
CUI: C0086438
Disease: Hypogammaglobulinemia
Hypogammaglobulinemia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 76 2 0.050 None 1.000 5 2 1999 2019
CUI: C0003257
Disease: Antibody Deficiency Syndrome
Antibody Deficiency Syndrome 		disease Immune System Diseases Disease or Syndrome 21 0.040 None 1.000 4 2008 2016
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.030 None 1.000 3 2007 2012
CUI: C1836032
Disease: Immunoglobulin a deficiency 2
Immunoglobulin a deficiency 2 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 3 0.700 limited 1.000 3 3 2005 2017
CUI: C4049006
Disease: Selective immunoglobulin A deficiency
Selective immunoglobulin A deficiency 		disease Disease or Syndrome 45 23 0.320 limited 1.000 3 2009 2017
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 503 64 0.020 None 1.000 2 2011 2018
CUI: C0036690
Disease: Septicemia
Septicemia 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1285 141 0.020 None 1.000 2 1 2015 2018
CUI: C0243026
Disease: Sepsis
Sepsis 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.020 None 1.000 2 1 2015 2018
CUI: C0398650
Disease: Immune thrombocytopenic purpura
Immune thrombocytopenic purpura 		disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 338 35 0.120 None 1.000 2 1 2014 2017
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 47 8 0.020 None 1.000 2 2011 2015
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections 		group Infections Disease or Syndrome 616 17 0.010 None 1.000 1 1999 1999
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		disease Respiratory Tract Diseases Disease or Syndrome 190 15 0.110 None 1.000 1 2014 2014
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 311 150 0.010 None 1.000 1 2006 2006
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 389 50 0.010 None 1.000 1 2019 2019
CUI: C0014070
Disease: Encephalomyelitis
Encephalomyelitis 		disease Infections; Nervous System Diseases Disease or Syndrome 865 7 0.010 None 1.000 1 2017 2017