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: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
disease Digestive System Diseases Disease or Syndrome 264 58 0.400 None 1.000 2 1 2013 2017
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease Digestive System Diseases Disease or Syndrome 188 276 0.400 None 1.000 2 1 2016 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
group Immune System Diseases Disease or Syndrome 1758 428 0.180 None 1.000 10 2 2009 2019
Diabetes Mellitus, Insulin-Dependent
disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.160 None 1.000 11 6 2009 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.120 None 1.000 6 4 2014 2019
CUI: C0042900
Disease: Vitiligo
Vitiligo
disease Skin and Connective Tissue Diseases Disease or Syndrome 395 249 0.100 None 1.000 4 3 2010 2016
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 527 263 0.100 None 1.000 2 1 2011 2016
CUI: C0033860
Disease: Psoriasis
Psoriasis
disease Skin and Connective Tissue Diseases Disease or Syndrome 1308 705 0.100 None 1.000 1 1 2016 2016
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
disease Musculoskeletal Diseases Disease or Syndrome 710 609 0.100 None 1.000 1 1 2016 2016
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.100 None 1.000 1 1 2011 2011
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
disease Disease or Syndrome 82 132 0.100 None 1.000 1 1 2019 2019
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement
phenotype Laboratory Procedure 27 52 0.100 None 1.000 1 1 2011 2011
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
disease Finding 82 141 0.100 None 1.000 1 1 2019 2019
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
disease Disease or Syndrome 82 142 0.100 None 1.000 1 1 2019 2019
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
phenotype Laboratory Procedure 610 1144 0.100 None 1.000 1 1 2019 2019
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
group Immune System Diseases Disease or Syndrome 451 116 0.100 None 1.000 1 1 2011 2011
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 613 283 0.100 None 1.000 1 1 2019 2019
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
disease Digestive System Diseases Disease or Syndrome 1458 827 0.100 None 1.000 1 1 2016 2016
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
disease Digestive System Diseases Disease or Syndrome 1382 1147 0.100 None 1.000 1 1 2016 2016
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.030 None 0.667 3 4 2013 2015
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.030 None 1.000 3 1 2012 2014
CUI: C0011847
Disease: Diabetes
Diabetes
disease Endocrine System Diseases Disease or Syndrome 2359 710 0.030 None 1.000 3 1 2012 2014
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD)
disease Disease or Syndrome 133 54 0.020 None 0.500 2 1 2011 2014
CUI: C0279986
Disease: Childhood Leiomyosarcoma
Childhood Leiomyosarcoma
disease Neoplasms Neoplastic Process 140 1 0.010 None 1.000 1 2019 2019
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 751 232 0.010 None 1.000 1 1 2017 2017