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: C1444844
Disease: Juvenile idiopathic arthritis, enthesitis related arthritis
Juvenile idiopathic arthritis, enthesitis related arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 4 1 0.010 None 1.000 1 2014 2014
CUI: C0032241
Disease: Pleuropneumonia
Pleuropneumonia 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 5 3 0.010 None 1.000 1 1 2015 2015
CUI: C0752305
Disease: Anoxic-Ischemic Encephalopathy
Anoxic-Ischemic Encephalopathy 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 5 0.300 None 1.000 1 2011 2011
CUI: C0752306
Disease: Anoxia-Ischemia, Brain
Anoxia-Ischemia, Brain 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 5 0.300 None 1.000 1 2011 2011
CUI: C0752307
Disease: Anoxia-Ischemia, Cerebral
Anoxia-Ischemia, Cerebral 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 5 0.300 None 1.000 1 2011 2011
CUI: C1142517
Disease: Lupus anticoagulant measurement
Lupus anticoagulant measurement 		phenotype Laboratory Procedure 5 0.100 None 0
CUI: C4073169
Disease: Decreased serum complement C4
Decreased serum complement C4 		phenotype Finding 5 0.100 None 0
CUI: C4321325
Disease: Lupus anticoagulant -- finding
Lupus anticoagulant -- finding 		phenotype Finding 5 0.100 None 0
CUI: C0426396
Disease: Urine looks dark
Urine looks dark 		phenotype Finding 6 0.100 None 0
CUI: C1290638
Disease: Resorption of apex of tooth root
Resorption of apex of tooth root 		disease Stomatognathic Diseases Disease or Syndrome 8 0.010 None 1.000 1 2016 2016
CUI: C1846058
Disease: Lubs X-linked mental retardation syndrome
Lubs X-linked mental retardation syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Mental or Behavioral Dysfunction 11 8 0.310 limited 1.000 2 2017 2018
CUI: C1837512
Disease: Decreased serum complement C3
Decreased serum complement C3 		phenotype Finding 12 0.100 None 0
CUI: C0178540
Disease: Cerebral Hypoxia-Ischemia
Cerebral Hypoxia-Ischemia 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 13 0.300 None 1.000 1 2011 2011
CUI: C0277942
Disease: Butterfly rash
Butterfly rash 		phenotype Skin and Connective Tissue Diseases Finding 13 0.100 None 0
CUI: C4023588
Disease: Abnormality of the gastrointestinal tract
Abnormality of the gastrointestinal tract 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 14 1 0.100 None 0
CUI: C1858981
Disease: Antineutrophil antibody positivity
Antineutrophil antibody positivity 		phenotype Laboratory or Test Result 15 0.100 None 0
CUI: C4019436
Disease: Antiphospholipid antibody positivity
Antiphospholipid antibody positivity 		phenotype Finding 18 0.100 None 0
CUI: C4477095
Disease: Increased lactate dehydrogenase activity
Increased lactate dehydrogenase activity 		phenotype Finding 27 0.100 None 0
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 30 18 0.010 None 1.000 1 2016 2016
CUI: C0221021
Disease: Microangiopathic hemolytic anemia
Microangiopathic hemolytic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 31 0.100 None 0
CUI: C0151480
Disease: Anti-nuclear factor positive
Anti-nuclear factor positive 		phenotype Skin and Connective Tissue Diseases Laboratory or Test Result 35 3 0.100 None 0
CUI: C0234428
Disease: Disturbance of consciousness
Disturbance of consciousness 		phenotype Finding 35 0.100 None 0
CUI: C0151632
Disease: ESR raised
ESR raised 		phenotype Finding 36 0.100 None 0
CUI: C0018991
Disease: Hemiplegia
Hemiplegia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 41 6 0.100 None 0
CUI: C3495919
Disease: Enthesitis-Related Arthritis
Enthesitis-Related Arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 42 2 0.010 None 1.000 1 2014 2014