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: C0543699
Disease: ASA intolerant asthma
ASA intolerant asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2005 2005
CUI: C0157917
Disease: Pauciarticular juvenile rheumatoid arthritis
Pauciarticular juvenile rheumatoid arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 10 0.010 None 1.000 1 1991 1991
CUI: C3854603
Disease: FNAITP
FNAITP 		disease Disease or Syndrome 12 2 0.030 None 1.000 3 2017 2019
CUI: C0409652
Disease: Seronegative rheumatoid arthritis
Seronegative rheumatoid arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 12 0.010 None 1.000 1 2019 2019
CUI: C0014059
Disease: Encephalomyelitis, Acute Disseminated
Encephalomyelitis, Acute Disseminated 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 24 0.010 None 1.000 1 2004 2004
CUI: C0221052
Disease: Chronic berylliosis
Chronic berylliosis 		disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases; Occupational Diseases; Wounds and Injuries Disease or Syndrome 26 0.010 None 1.000 1 2004 2004
CUI: C3853779
Disease: Neonatal Alloimmune Thrombocytopenia
Neonatal Alloimmune Thrombocytopenia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 29 1 0.010 None 1.000 1 2013 2013
CUI: C0040115
Disease: Thymus Hyperplasia
Thymus Hyperplasia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 30 1 0.010 None 1.000 1 1999 1999
CUI: C0340164
Disease: Lofgrens syndrome
Lofgrens syndrome 		disease Hemic and Lymphatic Diseases Disease or Syndrome 30 13 0.010 None 1.000 1 2001 2001
CUI: C0272285
Disease: Heparin-induced thrombocytopenia
Heparin-induced thrombocytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 44 5 0.010 None 1.000 1 2017 2017
CUI: C0026272
Disease: Mixed Connective Tissue Disease
Mixed Connective Tissue Disease 		disease Skin and Connective Tissue Diseases Disease or Syndrome 61 4 0.010 None 1.000 1 1993 1993
CUI: C0948201
Disease: Alloimmunisation
Alloimmunisation 		disease Disease or Syndrome 65 3 0.010 None 1.000 1 1992 1992
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 73 36 0.010 None 1.000 1 2019 2019
CUI: C0086445
Disease: Idiopathic Membranous Glomerulonephritis
Idiopathic Membranous Glomerulonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 79 13 0.010 None 1.000 1 2017 2017
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 80 13 0.010 None 1.000 1 2010 2010
CUI: C0036205
Disease: Sarcoidosis, Pulmonary
Sarcoidosis, Pulmonary 		disease Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 81 1 0.010 None 1.000 1 2000 2000
CUI: C0751713
Disease: Inclusion Body Myopathy, Sporadic
Inclusion Body Myopathy, Sporadic 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 84 5 0.010 None 1.000 1 2013 2013
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		disease Nervous System Diseases; Wounds and Injuries Disease or Syndrome 87 46 0.010 None 1.000 1 2004 2004
CUI: C0238190
Disease: Inclusion Body Myositis (disorder)
Inclusion Body Myositis (disorder) 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 87 1 0.010 None 1.000 1 2008 2008
CUI: C3853540
Disease: Aspirin exacerbated respiratory disease
Aspirin exacerbated respiratory disease 		disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases; Immune System Diseases; Chemically-Induced Disorders; Otorhinolaryngologic Diseases Disease or Syndrome 94 32 0.010 None 1.000 1 2016 2016
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		disease Infections; Cardiovascular Diseases Disease or Syndrome 102 33 0.010 None 1.000 1 2006 2006
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 157 9 0.010 None 1.000 1 2003 2003
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		group Mental Disorders Mental or Behavioral Dysfunction 168 379 0.100 None 1.000 1 17 2017 2017
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica 		disease Eye Diseases; Immune System Diseases; Nervous System Diseases Disease or Syndrome 171 45 0.030 None 0.667 3 2007 2012
CUI: C3714757
Disease: Juvenile rheumatoid arthritis
Juvenile rheumatoid arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 183 10 0.010 None 1.000 1 2007 2007