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.
Pseudohypoaldosteronism, Type I, Autosomal Recessive
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 10 6 0.610 strong 1.000 7 3 1999 2013
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2
disease Respiratory Tract Diseases Disease or Syndrome 2 3 0.600 strong 1.000 2 3 1999 2009
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: C0024115
Disease: Lung diseases
Lung diseases
group Respiratory Tract Diseases Disease or Syndrome 700 50 0.510 limited 1.000 3 2004 2017
CUI: C4748292
Disease: LIDDLE SYNDROME 3
LIDDLE SYNDROME 3
disease Disease or Syndrome 1 1 0.500 strong 1.000 2 1 1999 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.480 None 1.000 9 1 2002 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: C0006267
Disease: Bronchiectasis
Bronchiectasis
disease Respiratory Tract Diseases Disease or Syndrome 190 15 0.400 strong 0
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 852 704 0.390 None 0.909 11 1 2004 2017
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: 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: 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
CUI: C0205851
Disease: Germ cell tumor
Germ cell tumor
disease Neoplasms Neoplastic Process 278 5 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: C0740345
Disease: Germ Cell Cancer
Germ Cell Cancer
disease Neoplasms Neoplastic Process 44 0.300 None 1.000 1 2005 2005
CUI: C0339985
Disease: Idiopathic bronchiectasis
Idiopathic bronchiectasis
disease Respiratory Tract Diseases Disease or Syndrome 21 6 0.300 None 1.000 1 1 2009 2009
CUI: C0027654
Disease: Embryonal Neoplasm
Embryonal Neoplasm
disease Neoplasms Neoplastic Process 57 2 0.300 None 1.000 1 2005 2005
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: C1136382
Disease: Sclerocystic Ovaries
Sclerocystic Ovaries
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 144 0.300 None 1.000 1 2011 2011
Pseudohypoaldosteronism, Type I, Autosomal Dominant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 13 20 0.300 None 1.000 1 2002 2002
CUI: C0751365
Disease: Cancer, Embryonal and Mixed
Cancer, Embryonal and Mixed
disease Neoplasms Neoplastic Process 15 0.300 None 1.000 1 2005 2005
CUI: C1449844
Disease: Pseudohypoaldosteronism, Type II
Pseudohypoaldosteronism, Type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 27 42 0.300 None 1.000 1 2002 2002
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