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: C1282971
Disease: von Willebrand Disease, Type 2B
von Willebrand Disease, Type 2B
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 8 36 0.010 1.000 1 2018 2018
CUI: C0151699
Disease: Intracranial Hemorrhages
Intracranial Hemorrhages
group Cardiovascular Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 48 4 0.010 1.000 1 2018 2018
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis
disease Hemic and Lymphatic Diseases Disease or Syndrome 24 5 0.010 1.000 1 2008 2008
CUI: C1854520
Disease: SEBASTIAN SYNDROME
SEBASTIAN SYNDROME
disease Hemic and Lymphatic Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 13 11 0.010 1.000 1 2011 2011
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia
disease Congenital Abnormality 93 1 0.010 1.000 1 2000 2000
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 2453 389 0.010 1.000 1 2014 2014
Thrombocytopenia-Absent Radius Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Musculoskeletal Diseases Congenital Abnormality 8 4 0.010 < 0.001 1 1998 1998
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3592 419 0.010 1.000 1 1995 1995
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
group Neoplasms; Respiratory Tract Diseases Neoplastic Process 1176 23 0.010 1.000 1 2013 2013
CUI: C0023530
Disease: Leukopenia
Leukopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 245 63 0.010 1.000 1 2013 2013
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
disease Neoplasms Neoplastic Process 474 7 0.010 1.000 1 2012 2012
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
disease Neoplasms Neoplastic Process 500 6 0.010 1.000 1 2010 2010
Idiopathic Hypereosinophilic Syndrome
disease Hemic and Lymphatic Diseases Disease or Syndrome 31 4 0.010 1.000 1 2010 2010
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 3919 129 0.010 1.000 1 2016 2016
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 937 83 0.010 1.000 1 2013 2013
CUI: C1838608
Disease: Radial aplasia
Radial aplasia
disease Disease or Syndrome 19 0.010 1.000 1 2006 2006
CUI: C0042029
Disease: Urinary tract infection
Urinary tract infection
group Bacterial Infections and Mycoses; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 72 5 0.010 1.000 1 2015 2015
Precursor B-cell lymphoblastic leukemia
disease Neoplastic Process 366 18 0.010 1.000 1 1997 1997
Myelodysplastic-Myeloproliferative Diseases
group Hemic and Lymphatic Diseases Neoplastic Process 15 0.010 1.000 1 2014 2014
Refractory anemia with ringed sideroblasts
disease Neoplastic Process 18 2 0.010 1.000 1 2007 2007
Secondary malignant neoplasm of liver
disease Neoplastic Process 507 7 0.010 1.000 1 2016 2016
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 216 30 0.010 1.000 1 2008 2008
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2386 303 0.010 1.000 1 2013 2013
CUI: C0037221
Disease: Situs Inversus
Situs Inversus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 83 5 0.010 1.000 1 1995 1995
CUI: C1519680
Disease: Tumor Immunity
Tumor Immunity
phenotype Disease or Syndrome 133 2 0.010 1.000 1 2014 2014