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.
BLEEDING DISORDER, PLATELET-TYPE, 21
disease Disease or Syndrome 1 6 0.700 None 1.000 3 6 2013 2017
CUI: C0553580
Disease: Ewings sarcoma
Ewings sarcoma
disease Neoplasms Neoplastic Process 517 25 0.600 None 0.988 81 1993 2019
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
disease Neoplasms Neoplastic Process 117 3 0.500 None 0.947 19 1993 2019
Jacobsen Distal 11q Deletion Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 28 2 0.500 None 0.923 13 1 2000 2019
CUI: C1956093
Disease: Paris-Trousseau Thrombocytopenia
Paris-Trousseau Thrombocytopenia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.360 None 1.000 8 1995 2017
CUI: C0279980
Disease: Extra-osseous Ewing's sarcoma
Extra-osseous Ewing's sarcoma
disease Neoplasms Neoplastic Process 10 0.310 None 1.000 5 1997 2012
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.300 None 1.000 33 2003 2019
CUI: C1275668
Disease: Melanotic medulloblastoma
Melanotic medulloblastoma
disease Neoplasms Neoplastic Process 43 0.300 None 1.000 1 2009 2009
CUI: C0751291
Disease: Desmoplastic Medulloblastoma
Desmoplastic Medulloblastoma
disease Neoplasms Neoplastic Process 54 1 0.300 None 1.000 1 2009 2009
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.300 None 1.000 1 2014 2014
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma
disease Neoplasms Neoplastic Process 762 24 0.300 None 1.000 1 2009 2009
CUI: C0205833
Disease: Medullomyoblastoma
Medullomyoblastoma
disease Neoplasms Neoplastic Process 43 0.300 None 1.000 1 2009 2009
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
disease Neoplasms Neoplastic Process 771 25 0.300 None 1.000 1 2009 2009
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease Neoplasms Neoplastic Process 862 115 0.300 None 1.000 1 2009 2009
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.200 None 0.933 15 1 2000 2019
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
group Neoplasms; Nervous System Diseases Neoplastic Process 1018 204 0.120 None 1.000 2 2015 2019
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 764 20 0.110 None 1.000 1 2016 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.917 36 1993 2019
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 302 5 0.100 None 1.000 21 1992 2018
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia
disease Neoplastic Process 236 4 0.100 None 1.000 17 1993 2018
CUI: C4520840
Disease: Erythroleukemia (Erythroid/Myeloid)
Erythroleukemia (Erythroid/Myeloid)
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 237 4 0.100 None 1.000 17 1993 2018
CUI: C0678128
Disease: Friend leukemia
Friend leukemia
disease Neoplasms Neoplastic Process 19 0.100 None 0.938 16 1992 2020
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases
group Cardiovascular Diseases Disease or Syndrome 688 40 0.100 None 1.000 16 2010 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.100 None 0.929 14 1993 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.100 None 0.909 11 2006 2019