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: C0035468
Disease: Rhinoscleroma
Rhinoscleroma 		disease Infections; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2007 2007
CUI: C0267642
Disease: Childhood celiac disease
Childhood celiac disease 		disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.010 None 1.000 1 1996 1996
CUI: C2827448
Disease: Childhood Diabetes Mellitus
Childhood Diabetes Mellitus 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2004 2004
CUI: C2936833
Disease: Mycobacterium tuberculosis, susceptibility to infection by
Mycobacterium tuberculosis, susceptibility to infection by 		phenotype Pathological Conditions, Signs and Symptoms; Infections Finding 1 0.300 None 1.000 1 2016 2016
CUI: C0235956
Disease: Absence attacks
Absence attacks 		phenotype Nervous System Diseases Sign or Symptom 2 0.010 None 1.000 1 2006 2006
CUI: C0751622
Disease: Eosinophilia-Myalgia Syndrome, L-Tryptophan-Related
Eosinophilia-Myalgia Syndrome, L-Tryptophan-Related 		disease Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 0.300 None 1.000 1 2009 2009
CUI: C0342553
Disease: Juvenile Graves' disease
Juvenile Graves' disease 		disease Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 3 0.010 None 1.000 1 1997 1997
CUI: C1280469
Disease: Podoconiosis
Podoconiosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 3 2 0.010 None 1.000 1 1 2012 2012
CUI: C0202083
Disease: Immunoglobulin A measurement
Immunoglobulin A measurement 		phenotype Laboratory Procedure 4 5 0.100 None 1.000 1 1 2010 2010
CUI: C0233773
Disease: Hallucinations, Hypnagogic
Hallucinations, Hypnagogic 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 4 0.010 None 1.000 1 2012 2012
CUI: C0848034
Disease: Low IQ
Low IQ 		phenotype Mental or Behavioral Dysfunction 4 0.010 None 1.000 1 2013 2013
CUI: C4324720
Disease: Autoimmune thyroid disorder
Autoimmune thyroid disorder 		disease Disease or Syndrome 4 0.010 None 1.000 1 1998 1998
CUI: C0339808
Disease: House dust mite allergy
House dust mite allergy 		phenotype Pathological Conditions, Signs and Symptoms; Infections; Immune System Diseases Disease or Syndrome 5 0.010 None 1.000 1 1999 1999
CUI: C0403528
Disease: Henoch-Schönlein nephritis
Henoch-Schönlein nephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 5 0.010 None 1.000 1 1996 1996
CUI: C1510449
Disease: Chronic iridocyclitis
Chronic iridocyclitis 		disease Eye Diseases Disease or Syndrome 6 0.030 None 1.000 3 1991 2013
CUI: C1332355
Disease: Autoimmune Hepatitis with Centrilobular Necrosis
Autoimmune Hepatitis with Centrilobular Necrosis 		disease Disease or Syndrome 6 3 0.100 None 1.000 1 1 2014 2014
CUI: C3826604
Disease: Celiac disease in children
Celiac disease in children 		disease Disease or Syndrome 6 0.010 None 1.000 1 2006 2006
CUI: C3888521
Disease: Autoimmune demyelinating disease
Autoimmune demyelinating disease 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 6 0.010 None 1.000 1 1995 1995
CUI: C1843273
Disease: Tubulointerstitial nephritis and uveitis
Tubulointerstitial nephritis and uveitis 		disease Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome 7 3 0.040 None 1.000 4 2003 2018
CUI: C3888318
Disease: Myopathy, familial idiopathic inflammatory
Myopathy, familial idiopathic inflammatory 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 1 0.020 None 1.000 2 1998 2004
CUI: C0020522
Disease: Delayed Hypersensitivity
Delayed Hypersensitivity 		phenotype Immune System Diseases Pathologic Function 7 0.200 None 1.000 1 1998 1998
CUI: C0029295
Disease: Oropharyngeal Neoplasms
Oropharyngeal Neoplasms 		group Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 8 0.300 None 1.000 1 2016 2016
CUI: C0393665
Disease: Multiple Sclerosis, Chronic Progressive
Multiple Sclerosis, Chronic Progressive 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 8 0.010 None 1.000 1 1998 1998
CUI: C4024608
Disease: Necrotizing myopathy
Necrotizing myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 8 0.010 None 1.000 1 2002 2002
CUI: C0019050
Disease: Hemoglobinuria, Paroxysmal
Hemoglobinuria, Paroxysmal 		disease Hemic and Lymphatic Diseases Disease or Syndrome 9 0.010 None 1.000 1 2002 2002