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: C0013080
Disease: Down Syndrome
Down Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.010 None < 0.001 1 2011 2011
CUI: C0007682
Disease: CNS disorder
CNS disorder
group Nervous System Diseases Disease or Syndrome 319 11 0.010 None < 0.001 1 2018 2018
Adult Acute Megakaryoblastic Leukemia
disease Neoplasms Neoplastic Process 38 4 0.010 None < 0.001 1 2011 2011
Childhood Acute Megakaryoblastic Leukemia
disease Neoplasms Neoplastic Process 45 4 0.010 None < 0.001 1 2011 2011
CUI: C4054727
Disease: Infant Acute Lymphoblastic Leukemia
Infant Acute Lymphoblastic Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 52 8 0.010 None < 0.001 1 2004 2004
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 104 12 0.010 None < 0.001 1 2017 2017
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.010 None < 0.001 1 2011 2011
CUI: C4524268
Disease: Advanced lung cancer
Advanced lung cancer
disease Neoplastic Process 59 9 0.010 None < 0.001 1 2007 2007
CUI: C0206695
Disease: Carcinoma, Neuroendocrine
Carcinoma, Neuroendocrine
disease Neoplasms Neoplastic Process 182 7 0.010 None < 0.001 1 2005 2005
CUI: C1266025
Disease: Traditional Serrated Adenoma
Traditional Serrated Adenoma
disease Neoplasms Neoplastic Process 90 2 0.010 None < 0.001 1 2019 2019
CUI: C0521585
Disease: Gastrointestinal mucositis
Gastrointestinal mucositis
disease Digestive System Diseases; Stomatognathic Diseases Disease or Syndrome 98 19 0.010 None < 0.001 1 2 2014 2014
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias
disease Neoplasms Neoplastic Process 159 15 0.010 None < 0.001 1 2011 2011
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.030 None 0.667 3 2005 2017
CUI: C1167791
Disease: Skin toxicity
Skin toxicity
disease Disease or Syndrome 62 24 0.030 None 0.667 3 2 2006 2018
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
disease Neoplasms Neoplastic Process 1740 140 0.040 None 0.750 4 2000 2015
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 2111 144 0.070 None 0.857 7 2000 2019
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 632 63 0.080 None 0.875 8 2 2006 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.080 None 0.875 8 1 2005 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 3197 186 0.100 None 0.917 12 2003 2019
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 1172 115 0.100 None 0.933 15 1 2010 2018
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.100 None 0.957 23 1 2001 2018
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.100 None 0.957 23 1 2001 2018
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.100 None 0.957 23 1 2001 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.400 None 0.958 24 3 2004 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.400 None 0.960 75 2 2000 2019