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: 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 0.110 None 1.000 1 1 2015 2015
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		phenotype Finding 653 1206 0.100 None 1.000 1 1 2019 2019
CUI: C1858558
Disease: Rheumatoid Arthritis, Systemic Juvenile
Rheumatoid Arthritis, Systemic Juvenile 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 30 42 0.100 None 1.000 1 1 2013 2013
CUI: C3890205
Disease: Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 26 31 0.100 None 1.000 1 1 2013 2013
CUI: C0005612
Disease: Birth Weight
Birth Weight 		phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 214 369 0.100 None 1.000 1 1 2019 2019
CUI: C0087031
Disease: Juvenile-Onset Still Disease
Juvenile-Onset Still Disease 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 171 41 0.100 None 1.000 1 1 2013 2013
CUI: C0019372
Disease: Herpesviridae Infections
Herpesviridae Infections 		group Infections Disease or Syndrome 62 3 0.010 None 1.000 1 1 2019 2019
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 478 667 0.100 None 1.000 1 1 2012 2012
CUI: C1853193
Disease: Recurrent skin infections
Recurrent skin infections 		phenotype Infections; Skin and Connective Tissue Diseases Disease or Syndrome 95 2 0.100 None 0 1
CUI: C1844384
Disease: Recurrent fungal infections
Recurrent fungal infections 		phenotype Finding 20 2 0.100 None 0 1
CUI: C0040261
Disease: Onychomycosis
Onychomycosis 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 27 2 0.100 None 0 1
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		phenotype Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases Finding 127 14 0.100 None 0 1
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 166 122 0.100 None 0 1
CUI: C1835686
Disease: Recurrent bacterial skin infections
Recurrent bacterial skin infections 		phenotype Finding 13 1 0.100 None 0 1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0 1
CUI: C1860128
Disease: Recurrent candida infections
Recurrent candida infections 		phenotype Finding 12 1 0.100 None 0 1
CUI: C4025208
Disease: Severe T-cell immunodeficiency
Severe T-cell immunodeficiency 		disease Disease or Syndrome 5 2 0.100 None 0 1
CUI: C4316995
Disease: Primary Hypothyroidism
Primary Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 19 3 0.100 None 0 1
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0 1
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0 1
CUI: C2673462
Disease: Recurrent Staphylococcus aureus infections
Recurrent Staphylococcus aureus infections 		phenotype Finding 11 1 0.100 None 0 1
CUI: C0023885
Disease: Liver Abscess
Liver Abscess 		disease Digestive System Diseases; Infections Disease or Syndrome 22 1 0.100 None 0 1
CUI: C0005741
Disease: Blepharitis
Blepharitis 		disease Eye Diseases Disease or Syndrome 55 3 0.100 None 0 1
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 62 9 0.100 None 0 1
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 92 1998 2019