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: C0206695
Disease: Carcinoma, Neuroendocrine
Carcinoma, Neuroendocrine
disease Neoplasms Neoplastic Process 182 7 0.010 None 1.000 1 2019 2019
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.010 None 1.000 1 2016 2016
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 76 206 0.010 None 1.000 1 2018 2018
CUI: C0085138
Disease: Choroid Plexus Neoplasms
Choroid Plexus Neoplasms
group Neoplasms; Nervous System Diseases Neoplastic Process 19 0.010 None 1.000 1 2003 2003
Adult Desmoplastic Small Round Cell Tumor
disease Neoplasms Neoplastic Process 32 0.010 None 1.000 1 2015 2015
CUI: C0079774
Disease: Peripheral T-Cell Lymphoma
Peripheral T-Cell Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 190 10 0.010 None 1.000 1 2011 2011
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 199 10 0.010 None 1.000 1 2016 2016
CUI: C0042995
Disease: Vulvar Neoplasms
Vulvar Neoplasms
group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 7 0.010 None 1.000 1 2015 2015
Childhood Desmoplastic Small Round Cell Tumor
disease Neoplasms Neoplastic Process 32 0.010 None 1.000 1 2015 2015
CUI: C0042138
Disease: Uterine Neoplasms
Uterine Neoplasms
group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 32 1 0.010 None 1.000 1 2008 2008
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
group Neoplasms Neoplastic Process 569 154 0.010 None 1.000 1 2014 2014
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.010 None 1.000 1 2000 2000
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 639 50 0.010 None 1.000 1 2003 2003
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma
disease Neoplasms Neoplastic Process 115 1 0.010 None < 0.001 1 2018 2018
CUI: C0206093
Disease: Neuroectodermal Tumors
Neuroectodermal Tumors
disease Neoplasms Neoplastic Process 56 0.010 None 1.000 1 2009 2009
CUI: C0205898
Disease: pineoblastoma
pineoblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 18 6 0.010 None 1.000 1 2013 2013
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
disease Neoplasms Neoplastic Process 95 0.010 None 1.000 1 2019 2019
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma
disease Neoplasms; Nervous System Diseases Neoplastic Process 64 17 0.010 None < 0.001 1 2004 2004
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.010 None 1.000 1 2018 2018
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 135 16 0.010 None 1.000 1 2008 2008
Secondary malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 1370 20 0.010 None 1.000 1 2019 2019
CUI: C1275278
Disease: Extraskeletal Myxoid Chondrosarcoma
Extraskeletal Myxoid Chondrosarcoma
disease Neoplasms Neoplastic Process 50 0.010 None 1.000 1 2008 2008
CUI: C1298180
Disease: Single tumor
Single tumor
phenotype Neoplastic Process 63 4 0.010 None < 0.001 1 2017 2017
CUI: C0042076
Disease: Urologic Neoplasms
Urologic Neoplasms
group Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 28 4 0.010 None 1.000 1 2018 2018
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 338 36 0.010 None 1.000 1 1999 1999