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.
Congenital contractural arachnodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 559 48 0.010 None 1.000 1 2008 2008
CUI: C0265797
Disease: Congenital emphysema
Congenital emphysema
disease Respiratory Tract Diseases Congenital Abnormality 40 0.010 None 1.000 1 2015 2015
Cleft Lip with or without Cleft Palate
disease Congenital Abnormality 99 50 0.010 None < 0.001 1 2009 2009
Diabetes Mellitus, Insulin-Dependent
disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.200 None 0.893 28 1 1995 2012
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 0.200 None 0.885 26 1 1997 2019
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.100 None 1.000 12 3 2005 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.180 None 1.000 11 8 2001 2019
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 527 263 0.100 None 0.800 10 2002 2015
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
disease Digestive System Diseases Disease or Syndrome 1458 827 0.090 None 1.000 9 2001 2013
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 450 89 0.160 None 0.857 7 1 2001 2019
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
group Digestive System Diseases Disease or Syndrome 1577 605 0.070 None 1.000 7 1 2001 2013
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
disease Digestive System Diseases; Infections Disease or Syndrome 1449 519 0.060 None 1.000 6 2 1993 2020
CUI: C0033860
Disease: Psoriasis
Psoriasis
disease Skin and Connective Tissue Diseases Disease or Syndrome 1308 705 0.060 None 0.833 6 2000 2014
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
disease Musculoskeletal Diseases Disease or Syndrome 710 609 0.150 None 0.833 6 1 1994 2011
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
disease Digestive System Diseases Disease or Syndrome 264 58 0.060 None 1.000 6 2001 2014
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.050 None 0.800 5 1 2005 2018
CUI: C0001403
Disease: Addison Disease
Addison Disease
disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 111 13 0.040 None 1.000 4 1999 2009
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.040 None 1.000 4 2000 2006
CUI: C0023343
Disease: Leprosy
Leprosy
disease Infections Disease or Syndrome 190 120 0.040 None 1.000 4 2006 2013
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris
disease Skin and Connective Tissue Diseases Disease or Syndrome 255 80 0.040 None 1.000 4 2000 2014
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic
disease Digestive System Diseases; Infections Disease or Syndrome 430 80 0.040 None 1.000 4 1 2016 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
group Immune System Diseases Disease or Syndrome 1758 428 0.030 None 1.000 3 2002 2015
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
disease Digestive System Diseases Disease or Syndrome 1382 1147 0.030 None 1.000 3 1 2001 2017
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis
disease Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 136 55 0.030 None 1.000 3 2 1998 2018
Addison's disease due to autoimmunity
disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 44 18 0.030 None 1.000 3 1999 2014