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: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2825 188 0.020 None 1.000 2 2015 2017
CUI: C0007097
Disease: Carcinoma
Carcinoma 		group Neoplasms Neoplastic Process 2462 103 0.020 None 1.000 2 2009 2014
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Neoplastic Process 74 124 0.020 None 1.000 2 2003 2007
CUI: C1300267
Disease: Brachydactyly syndrome type B
Brachydactyly syndrome type B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 1 0.300 None 1.000 2 2000 2000
CUI: C1535939
Disease: Pneumocystis jiroveci pneumonia
Pneumocystis jiroveci pneumonia 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 180 5 0.020 None 1.000 2 2017 2018
CUI: C1969652
Disease: BRACHYDACTYLY, TYPE B2 (disorder)
BRACHYDACTYLY, TYPE B2 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 2 0.020 None 1.000 2 2014 2017
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2689 322 0.020 None 1.000 2 2012 2018
CUI: C0239399
Disease: Short extremities
Short extremities 		phenotype Congenital Abnormality 38 10 0.010 None 1.000 1 2009 2009
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand 		disease Musculoskeletal Diseases Disease or Syndrome 61 21 0.010 None 1.000 1 2012 2012
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1348 204 0.010 None 1.000 1 2017 2017
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 175 6 0.010 None 1.000 1 2015 2015
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		disease Neoplasms Neoplastic Process 762 24 0.010 None 1.000 1 2013 2013
CUI: C0279651
Disease: Gallbladder adenocarcinoma
Gallbladder adenocarcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 53 2 0.010 None 1.000 1 2017 2017
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		disease Cardiovascular Diseases Disease or Syndrome 106 40 0.010 None 1.000 1 2007 2007
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		disease Neoplasms Neoplastic Process 504 42 0.010 None 1.000 1 2010 2010
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2015 2015
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 12 14 0.010 None 1.000 1 2000 2000
CUI: C0278607
Disease: Adult Leiomyosarcoma
Adult Leiomyosarcoma 		disease Neoplasms Neoplastic Process 141 1 0.010 None 1.000 1 2012 2012
CUI: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 449 10 0.010 None 1.000 1 2017 2017
CUI: C2004493
Disease: Leukemia, B-Cell
Leukemia, B-Cell 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 239 2 0.010 None 1.000 1 2017 2017
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		disease Neoplasms Neoplastic Process 771 25 0.010 None 1.000 1 2013 2013
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		disease Neoplasms Neoplastic Process 1740 140 0.010 None 1.000 1 2016 2016
CUI: C1863753
Disease: LIMB-MAMMARY SYNDROME
LIMB-MAMMARY SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 120 1 0.010 None 1.000 1 2012 2012
CUI: C0279986
Disease: Childhood Leiomyosarcoma
Childhood Leiomyosarcoma 		disease Neoplasms Neoplastic Process 140 1 0.010 None 1.000 1 2012 2012
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm 		phenotype Neoplasms Neoplastic Process 1145 24 0.010 None 1.000 1 2017 2017