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: 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: C0949272
Disease: IIeocolitis
IIeocolitis
disease Digestive System Diseases Disease or Syndrome 53 3 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: 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: C0678202
Disease: Regional enteritis
Regional enteritis
disease Digestive System Diseases Disease or Syndrome 46 15 0.300 None 1.000 1 2010 2010
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: 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: C0033860
Disease: Psoriasis
Psoriasis
disease Skin and Connective Tissue Diseases Disease or Syndrome 1308 705 0.120 None 1.000 5 2 2012 2018
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
group Digestive System Diseases Disease or Syndrome 1577 605 0.110 None 1.000 4 1 2012 2017
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
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
disease Digestive System Diseases Disease or Syndrome 1458 827 0.100 None 1.000 2 2 2015 2016
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 1 2019 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: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.100 None 1.000 1 1 2015 2015
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
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 450 128 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: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 4 2018 2018
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
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: 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: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.040 None 0.750 4 2006 2017
CUI: C0949690
Disease: Spondylarthritis
Spondylarthritis
disease Musculoskeletal Diseases Disease or Syndrome 158 23 0.030 None 1.000 3 2016 2017
CUI: C1853959
Disease: Birdshot chorioretinopathy
Birdshot chorioretinopathy
disease Disease or Syndrome 15 2 0.030 None 1.000 3 2014 2019