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: C4331504
Disease: Vitamin D Dependent Rickets 2
Vitamin D Dependent Rickets 2 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C4528554
Disease: Anatomic Stage II Breast Cancer AJCC v8
Anatomic Stage II Breast Cancer AJCC v8 		disease Neoplastic Process 9 1 0.010 None 1.000 1 2015 2015
CUI: C4528580
Disease: Prognostic Stage II Breast Cancer AJCC v8
Prognostic Stage II Breast Cancer AJCC v8 		disease Neoplastic Process 9 1 0.010 None 1.000 1 2015 2015
CUI: C0278486
Disease: Breast cancer stage II
Breast cancer stage II 		disease Neoplastic Process 10 1 0.010 None 1.000 1 2015 2015
CUI: C4520714
Disease: Stage II Breast Cancer AJCC v6 and v7
Stage II Breast Cancer AJCC v6 and v7 		disease Neoplastic Process 11 1 0.010 None 1.000 1 2015 2015
CUI: C0022073
Disease: Iridocyclitis
Iridocyclitis 		disease Eye Diseases Disease or Syndrome 16 0.100 None 0
CUI: C2931171
Disease: Juvenile pauciarticular chronic arthritis
Juvenile pauciarticular chronic arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 26 31 0.400 None 1.000 2 1 2012 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: C4023452
Disease: Elevated C-reactive protein level
Elevated C-reactive protein level 		phenotype Finding 28 2 0.100 None 0
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: C0152031
Disease: Joint swelling
Joint swelling 		phenotype Pathological Conditions, Signs and Symptoms Finding 33 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: C0151632
Disease: ESR raised
ESR raised 		phenotype Finding 36 0.100 None 0
CUI: C4721209
Disease: Metastatic human epidermal growth factor 2 positive carcinoma of breast
Metastatic human epidermal growth factor 2 positive carcinoma of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 42 0.010 None 1.000 1 2019 2019
CUI: C4049006
Disease: Selective immunoglobulin A deficiency
Selective immunoglobulin A deficiency 		disease Disease or Syndrome 45 23 0.100 None 1.000 1 1 2016 2016
CUI: C0678202
Disease: Regional enteritis
Regional enteritis 		disease Digestive System Diseases Disease or Syndrome 46 15 0.300 None 1.000 1 2007 2007
CUI: C3898105
Disease: Oligoarticular Juvenile Idiopathic Arthritis
Oligoarticular Juvenile Idiopathic Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 51 35 0.110 None 1.000 2 1 2013 2014
CUI: C0031046
Disease: Pericarditis
Pericarditis 		disease Cardiovascular Diseases Disease or Syndrome 51 6 0.010 None 1.000 1 2017 2017
CUI: C0949272
Disease: IIeocolitis
IIeocolitis 		disease Digestive System Diseases Disease or Syndrome 53 3 0.300 None 1.000 1 2007 2007
CUI: C0267380
Disease: Crohn's disease of the ileum
Crohn's disease of the ileum 		disease Digestive System Diseases Disease or Syndrome 55 0.300 None 1.000 1 2007 2007
CUI: C0162323
Disease: Polyarthritis
Polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 65 9 0.100 None 0
CUI: C0003635
Disease: Apraxias
Apraxias 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 71 9 0.100 None 0
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 72 25 0.100 None 1.000 1 1 2016 2016
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		disease Finding 82 141 0.100 None 1.000 1 1 2019 2019
CUI: C3495798
Disease: Periodontal inflammation
Periodontal inflammation 		disease Disease or Syndrome 82 2 0.010 None 1.000 1 2018 2018