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.
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None 1.000 1 2015 2015
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
disease Digestive System Diseases; Neoplasms Neoplastic Process 1649 88 0.010 None 1.000 1 2012 2012
Liver and Intrahepatic Biliary Tract Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1395 73 0.010 None 1.000 1 2012 2012
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm
disease Neoplasms Neoplastic Process 767 118 0.010 None < 0.001 1 2015 2015
Recurrent Childhood Acute Lymphoblastic Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 37 0.010 None 1.000 1 2002 2002
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 56 6 0.010 None 1.000 1 2007 2007
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.010 None 1.000 1 2009 2009
CUI: C0238301
Disease: Cancer of Nasopharynx
Cancer of Nasopharynx
disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 145 12 0.010 None 1.000 1 2000 2000
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1377 72 0.010 None 1.000 1 2012 2012
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia
disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 83 21 0.010 None 1.000 1 2018 2018
Pauciarticular juvenile rheumatoid arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 10 0.010 None 1.000 1 1991 1991
CUI: C0153392
Disease: Malignant neoplasm of nasopharynx
Malignant neoplasm of nasopharynx
disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 136 10 0.010 None 1.000 1 2000 2000
CUI: C0085605
Disease: Liver Failure
Liver Failure
disease Digestive System Diseases Disease or Syndrome 293 20 0.010 None 1.000 1 1997 1997
CUI: C0085409
Disease: Polyendocrinopathies, Autoimmune
Polyendocrinopathies, Autoimmune
group Immune System Diseases; Endocrine System Diseases Disease or Syndrome 166 21 0.010 None 1.000 1 2004 2004
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 179 61 0.010 None 1.000 1 2002 2002
CUI: C0042384
Disease: Vasculitis
Vasculitis
disease Cardiovascular Diseases Disease or Syndrome 294 24 0.010 None 1.000 1 2007 2007
CUI: C0040147
Disease: Thyroiditis
Thyroiditis
disease Endocrine System Diseases Disease or Syndrome 104 7 0.010 None 1.000 1 2006 2006
CUI: C0035435
Disease: Rheumatism
Rheumatism
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 197 19 0.010 None 1.000 1 1997 1997
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
disease Neoplasms Neoplastic Process 2247 151 0.010 None 1.000 1 2004 2004
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.010 None 1.000 1 2009 2009
CUI: C4543926
Disease: Narcolepsy type 1
Narcolepsy type 1
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 35 0.010 None 1.000 1 2019 2019
CUI: C3899278
Disease: Early Rheumatoid Arthritis
Early Rheumatoid Arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 83 5 0.010 None 1.000 1 2016 2016
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma
disease Neoplasms Neoplastic Process 786 118 0.010 None < 0.001 1 2015 2015
CUI: C3854603
Disease: FNAITP
FNAITP
disease Disease or Syndrome 12 2 0.010 None 1.000 1 2017 2017
Neonatal Alloimmune Thrombocytopenia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 29 1 0.010 None 1.000 1 2013 2013