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.
CUI: C1449861
Disease: Micronuclei, Chromosome-Defective
Micronuclei, Chromosome-Defective 		phenotype Pathological Conditions, Signs and Symptoms Cell Component 26 0.300 None 1.000 1 2016 2016
CUI: C1449862
Disease: Micronuclei, Genotoxicant-Induced
Micronuclei, Genotoxicant-Induced 		phenotype Pathological Conditions, Signs and Symptoms Cell Component 26 0.300 None 1.000 1 2016 2016
CUI: C0265264
Disease: Holt-Oram syndrome
Holt-Oram syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 28 69 0.010 None 1.000 1 2016 2016
CUI: C1335059
Disease: testicular nonseminoma
testicular nonseminoma 		disease Neoplastic Process 30 4 0.010 None 1.000 1 2003 2003
CUI: C0205700
Disease: Asymmetric Septal Hypertrophy
Asymmetric Septal Hypertrophy 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 31 7 0.010 None 1.000 1 2019 2019
CUI: C1395512
Disease: Placental dysfunction
Placental dysfunction 		disease Disease or Syndrome 31 0.010 None 1.000 1 2013 2013
CUI: C1334455
Disease: Pulmonary Sclerosing Hemangioma
Pulmonary Sclerosing Hemangioma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 33 3 0.010 None 1.000 1 2011 2011
CUI: C0854985
Disease: Adenocarcinoma of lung, stage I
Adenocarcinoma of lung, stage I 		disease Neoplastic Process 37 1 0.010 None 1.000 1 2002 2002
CUI: C3900097
Disease: Adult Penile Carcinoma
Adult Penile Carcinoma 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 37 3 0.010 None 1.000 1 2008 2008
CUI: C0153601
Disease: Malignant neoplasm of penis
Malignant neoplasm of penis 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 39 3 0.010 None 1.000 1 2008 2008
CUI: C0238348
Disease: Squamous cell carcinoma of penis
Squamous cell carcinoma of penis 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 40 2 0.010 None 1.000 1 2013 2013
CUI: C1531608
Disease: Smoldering myeloma
Smoldering myeloma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 41 1 0.010 None 1.000 1 2004 2004
CUI: C0333693
Disease: Triploidy syndrome
Triploidy syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 42 0.010 None 1.000 1 2014 2014
CUI: C0205833
Disease: Medullomyoblastoma
Medullomyoblastoma 		disease Neoplasms Neoplastic Process 43 0.300 None 1.000 1 2011 2011
CUI: C0334294
Disease: Multiple adenomatous polyps
Multiple adenomatous polyps 		disease Neoplasms Neoplastic Process 43 5 0.010 None 1.000 1 2009 2009
CUI: C1275668
Disease: Melanotic medulloblastoma
Melanotic medulloblastoma 		disease Neoplasms Neoplastic Process 43 0.300 None 1.000 1 2011 2011
CUI: C0334287
Disease: Fibrolamellar Hepatocellular Carcinoma
Fibrolamellar Hepatocellular Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 46 0.010 None 1.000 1 2012 2012
CUI: C0346156
Disease: Benign neoplasm of breast
Benign neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 46 0.010 None 1.000 1 2006 2006
CUI: C0023484
Disease: Leukemia, Plasma Cell
Leukemia, Plasma Cell 		disease Neoplasms; Immune System Diseases Neoplastic Process 47 0.020 None 1.000 2 2003 2004
CUI: C0853105
Disease: Penis carcinoma
Penis carcinoma 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 49 3 0.020 None 1.000 2 2008 2008
CUI: C0206706
Disease: Verrucous carcinoma
Verrucous carcinoma 		disease Neoplasms Neoplastic Process 49 0.010 None 1.000 1 2005 2005
CUI: C2216702
Disease: malignant neoplasm of breast staging
malignant neoplasm of breast staging 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 49 1 0.010 None 1.000 1 2014 2014
CUI: C1704423
Disease: Milroy Disease
Milroy Disease 		disease Hemic and Lymphatic Diseases Disease or Syndrome 52 18 0.010 None 1.000 1 2003 2003
CUI: C0221228
Disease: Comedone
Comedone 		disease Skin and Connective Tissue Diseases Disease or Syndrome 53 0.010 None 1.000 1 2014 2014
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		disease Digestive System Diseases Disease or Syndrome 54 3 0.010 None 1.000 1 2013 2013