Source: ALL
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.
Transposition of the Great Arteries, Dextro-Looped 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 6 12 0.200 None 1.000 1 2002 2002
Discordant ventriculoarterial connection
disease Congenital Abnormality 10 1 0.200 None 1.000 1 2002 2002
CUI: C3257801
Disease: Dextrotransposition of aorta
Dextrotransposition of aorta
disease Cardiovascular Diseases Congenital Abnormality 4 0.200 None 1.000 1 2002 2002
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 61 18 0.200 None 1.000 1 2002 2002
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.060 None 1.000 6 2005 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.040 None 1.000 4 2010 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.040 None 1.000 4 2 2010 2019
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.030 None 1.000 3 2010 2019
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 304 122 0.030 None 1.000 3 2012 2013
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.020 None 1.000 2 2017 2019
Squamous cell carcinoma of esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 2053 329 0.020 None 1.000 2 2016 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.020 None 1.000 2 2013 2015
CUI: C0017638
Disease: Glioma
Glioma
disease Neoplasms Neoplastic Process 3097 353 0.020 None 1.000 2 2011 2019
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 472 83 0.020 None 1.000 2 2018 2018
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.010 None 1.000 1 2012 2012
CUI: C0333983
Disease: Hyperplastic Polyp
Hyperplastic Polyp
disease Pathological Conditions, Signs and Symptoms Neoplastic Process 204 22 0.010 None 1.000 1 2010 2010
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease
phenotype Neoplastic Process 384 40 0.010 None 1.000 1 2016 2016
Secondary malignant neoplasm of lymph node
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2825 188 0.010 None 1.000 1 2013 2013
Conventional (Clear Cell) Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.010 None 1.000 1 2016 2016
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.010 None 1.000 1 2019 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.010 None 1.000 1 2013 2013
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.010 None 1.000 1 2013 2013
Cleft Lip with or without Cleft Palate
disease Congenital Abnormality 99 50 0.010 None 1.000 1 2012 2012
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 466 19 0.010 None 1.000 1 2008 2008
CUI: C4302956
Disease: Robinow-like syndrome
Robinow-like syndrome
disease Disease or Syndrome 1 0.010 None 1.000 1 2018 2018