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: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
disease Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 206 22 0.420 1.000 2 1 2006 2017
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 1702 215 0.410 1.000 3 1 2008 2011
Precursor Cell Lymphoblastic Leukemia Lymphoma
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 617 126 0.350 1.000 5 2008 2018
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Male Urogenital Diseases; Neoplasms Neoplastic Process 1553 25 0.310 2 2005 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Male Urogenital Diseases; Neoplasms Neoplastic Process 3238 563 0.310 1.000 2 2004 2018
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease Immune System Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1112 674 0.210 1.000 2 2013 2015
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 560 110 0.110 1.000 2 1 2009 2016
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
disease Hemic and Lymphatic Diseases Neoplastic Process 181 20 0.100 1.000 10 2013 2017
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
disease Neoplastic Process 97 5 0.100 1.000 10 2013 2017
Acute lymphoblastic leukemia with lymphomatous features
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 7 12 0.100 6 3 2009 2013
CUI: C0750879
Disease: Eosinophil count result
Eosinophil count result
phenotype Laboratory or Test Result 200 419 0.100 1 2 2017 2017
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 506 827 0.100 1 1 2015 2015
CUI: C3501854
Disease: Leukemia, Acute, X-Linked
Leukemia, Acute, X-Linked
disease Neoplasms Neoplastic Process 1 1 0.100 1 1 2009 2009
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 282 676 0.100 1 1 2012 2012
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
phenotype Laboratory Procedure 223 429 0.100 1 2 2017 2017
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
phenotype Laboratory Procedure 200 419 0.100 1 2 2017 2017
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
disease Neoplastic Process 906 99 0.090 1.000 9 2008 2018
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
group Hemic and Lymphatic Diseases Neoplastic Process 263 23 0.050 0.800 5 2010 2017
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 1940 76 0.050 1.000 5 2008 2016
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
disease Neoplastic Process 232 22 0.050 1.000 5 2009 2016
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 407 7 0.040 1.000 4 2008 2012
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 3919 129 0.030 1.000 3 2011 2015
CUI: C0016057
Disease: Fibrosarcoma
Fibrosarcoma
disease Neoplasms Neoplastic Process 297 5 0.030 1.000 3 2005 2014
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
disease Neoplasms Neoplastic Process 474 7 0.020 1.000 2 2011 2011
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 2025 244 0.020 1.000 2 2015 2015