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: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1105 745 0.430 1.000 6 2 2009 2016
Multiple Sclerosis, Acute Fulminating
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 43 10 0.300 2 2009 2014
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
disease Neoplastic Process 906 99 0.100 0.966 59 1994 2016
Childhood Acute Lymphoblastic Leukemia
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 442 97 0.100 0.976 41 1996 2016
Precursor Cell Lymphoblastic Leukemia Lymphoma
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 617 126 0.100 1.000 25 1994 2016
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
group Neoplasms Neoplastic Process 348 24 0.100 1.000 16 1990 2012
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
disease Neoplasms Neoplastic Process 41 1 0.100 1.000 13 1992 2018
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
group Neoplasms Neoplastic Process 309 4 0.100 1.000 11 1990 2002
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 1702 215 0.100 0.900 10 1995 2007
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 1940 76 0.100 1.000 10 1996 2013
CUI: C0206634
Disease: Liposarcoma, Myxoid
Liposarcoma, Myxoid
disease Neoplasms Neoplastic Process 43 0.100 1.000 10 1995 2008
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
group Digestive System Diseases Disease or Syndrome 910 451 0.100 2 1 2012 2016
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
disease Digestive System Diseases Disease or Syndrome 914 696 0.100 2 1 2016 2017
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
disease Digestive System Diseases Disease or Syndrome 911 956 0.100 2 1 2016 2017
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
disease Musculoskeletal Diseases Disease or Syndrome 347 422 0.100 1 1 2017 2017
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease Digestive System Diseases Disease or Syndrome 139 284 0.100 1 1 2017 2017
CUI: C0033860
Disease: Psoriasis
Psoriasis
disease Skin and Connective Tissue Diseases Disease or Syndrome 817 636 0.100 1 1 2017 2017
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery
phenotype Pathologic Function 374 3393 0.100 1 1 2012 2012
CUI: C0796070
Disease: MICROPHTHALMIA, SYNDROMIC 7
MICROPHTHALMIA, SYNDROMIC 7
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality; Disease or Syndrome 31 3 0.080 1.000 8 1993 2008
Precursor B-cell lymphoblastic leukemia
disease Neoplastic Process 366 18 0.070 1.000 7 1997 2014
CUI: C0023827
Disease: liposarcoma
liposarcoma
disease Neoplasms Neoplastic Process 128 2 0.070 1.000 7 1993 2010
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 219 4 0.070 1.000 7 1997 2011
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
disease Neoplastic Process 491 26 0.070 1.000 7 1996 2008
CUI: C0545074
Disease: Myxoid/Round Cell Liposarcoma
Myxoid/Round Cell Liposarcoma
disease Neoplastic Process 44 0.070 1.000 7 1991 2008
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 496 16 0.060 1.000 6 1997 2006