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: C0701807
Disease: Acute anterior uveitis
Acute anterior uveitis
disease Eye Diseases Disease or Syndrome 90 30 0.010 None 1.000 1 2018 2018
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
disease Musculoskeletal Diseases Disease or Syndrome 710 609 0.200 None 0.882 17 5 2010 2019
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 450 89 0.010 None 1.000 1 1 2016 2016
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
disease Disease or Syndrome 82 142 0.100 None 1.000 1 1 2015 2015
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
disease Disease or Syndrome 82 132 0.100 None 1.000 1 1 2015 2015
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
disease Finding 82 141 0.100 None 1.000 1 1 2015 2015
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
group Immune System Diseases Disease or Syndrome 1758 428 0.170 None 1.000 8 1 2012 2019
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis
disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 161 76 0.100 None 1.000 1 1 2015 2015
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome 502 243 0.020 None 1.000 2 2017 2019
CUI: C1853959
Disease: Birdshot chorioretinopathy
Birdshot chorioretinopathy
disease Disease or Syndrome 15 2 0.030 None 1.000 3 2014 2019
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2130 281 0.010 None 1.000 1 2018 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 4 2018 2018
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2104 309 0.010 None 1.000 1 2018 2018
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 1 1 2015 2015
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.010 None 1.000 1 2010 2010
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
disease Neoplasms Neoplastic Process 2420 231 0.010 None 1.000 1 2010 2010
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease Digestive System Diseases Disease or Syndrome 188 276 0.100 None 1.000 1 1 2016 2016
CUI: C0008497
Disease: Choriocarcinoma
Choriocarcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 431 2 0.010 None 1.000 1 2018 2018
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency
disease Immune System Diseases Disease or Syndrome 207 85 0.100 None 1.000 1 1 2015 2015
Conventional (Clear Cell) Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.010 None 1.000 1 2013 2013
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
disease Digestive System Diseases Disease or Syndrome 1382 1147 0.420 None 1.000 7 6 2010 2017
CUI: C0156147
Disease: Crohn's disease of large bowel
Crohn's disease of large bowel
disease Digestive System Diseases Disease or Syndrome 96 1 0.300 None 1.000 1 2010 2010
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 2010 2010
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 2019 2019
Diabetes Mellitus, Insulin-Dependent
disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.110 None 0.500 2 1 2007 2015