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: C0268436
Disease: Pseudohypoaldosteronism, Type I
Pseudohypoaldosteronism, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 19 0.380 None 1.000 9 2002 2019
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 19 6 0.540 None 1.000 6 2003 2019
CUI: C0033805
Disease: Pseudohypoaldosteronism
Pseudohypoaldosteronism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 19 3 0.440 None 1.000 5 2002 2013
CUI: C0024115
Disease: Lung diseases
Lung diseases 		group Respiratory Tract Diseases Disease or Syndrome 700 50 0.510 limited 1.000 3 2004 2017
CUI: C0392164
Disease: Pulmonary Cystic Fibrosis
Pulmonary Cystic Fibrosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 53 0.300 None 1.000 2 2004 2009
CUI: C1527396
Disease: Fibrocystic Disease of Pancreas
Fibrocystic Disease of Pancreas 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 9 0.300 None 1.000 2 2004 2009
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 384 45 0.200 None 1.000 1 2004 2004
CUI: C0027658
Disease: Neoplasms, Germ Cell and Embryonal
Neoplasms, Germ Cell and Embryonal 		group Neoplasms Neoplastic Process 34 0.300 None 1.000 1 2005 2005
CUI: C0027654
Disease: Embryonal Neoplasm
Embryonal Neoplasm 		disease Neoplasms Neoplastic Process 57 2 0.300 None 1.000 1 2005 2005
CUI: C0034063
Disease: Pulmonary Edema
Pulmonary Edema 		phenotype Respiratory Tract Diseases Pathologic Function 26 0.010 None 1.000 1 2004 2004
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.010 None 1.000 1 2011 2011
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.110 None 1.000 1 2005 2005
CUI: C0740345
Disease: Germ Cell Cancer
Germ Cell Cancer 		disease Neoplasms Neoplastic Process 44 0.300 None 1.000 1 2005 2005
CUI: C0751364
Disease: Cancer, Embryonal
Cancer, Embryonal 		phenotype Neoplasms Neoplastic Process 18 0.300 None 1.000 1 2005 2005
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 0.010 None 1.000 1 2011 2011
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2011 2011
CUI: C0205852
Disease: Neoplasms, Embryonal and Mixed
Neoplasms, Embryonal and Mixed 		disease Neoplasms Neoplastic Process 15 0.300 None 1.000 1 2005 2005
CUI: C0205851
Disease: Germ cell tumor
Germ cell tumor 		disease Neoplasms Neoplastic Process 278 5 0.300 None 1.000 1 2005 2005
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 972 125 0.010 None 1.000 1 2018 2018
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2011 2011
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		disease Musculoskeletal Diseases Disease or Syndrome 710 609 0.010 None 1.000 1 2012 2012
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.010 None 1.000 1 2018 2018
CUI: C0033687
Disease: Proteinuria
Proteinuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 239 20 0.300 None 1.000 1 2002 2002
CUI: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 166 14 0.300 None 1.000 1 2006 2006
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 988 363 0.300 None 1.000 1 2011 2011