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: C0268434
Disease: Hyperkalemic distal renal tubular acidosis
Hyperkalemic distal renal tubular acidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C4748251
Disease: LIDDLE SYNDROME 2
LIDDLE SYNDROME 2 		disease Disease or Syndrome 1 2 0.100 None 0 2
CUI: C2751324
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3 		disease Respiratory Tract Diseases Disease or Syndrome 2 0.500 strong 1.000 1 2015 2015
CUI: C4023112
Disease: Acute infectious pneumonia
Acute infectious pneumonia 		disease Disease or Syndrome 7 0.100 None 0
CUI: C4025204
Disease: Recurrent Haemophilus influenzae infections
Recurrent Haemophilus influenzae infections 		phenotype Finding 7 0.100 None 0
CUI: C1846345
Disease: Hyperactive renin-angiotensin system
Hyperactive renin-angiotensin system 		phenotype Finding 8 0.100 None 0
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 1 2006 2006
CUI: C1845206
Disease: Decreased circulating renin level
Decreased circulating renin level 		phenotype Finding 9 1 0.100 None 0
CUI: C1449843
Disease: Pseudohypoaldosteronism, Type I, Autosomal Recessive
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 0.700 strong 1.000 5 1 1996 2015
CUI: C2713447
Disease: Hyperpotassemia and Hypertension, Familial
Hyperpotassemia and Hypertension, Familial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 10 0.300 None 1.000 1 1996 1996
CUI: C1449842
Disease: Pseudohypoaldosteronism, Type I, Autosomal Dominant
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 1996 1996
CUI: C3671887
Disease: Hypernatriuria
Hypernatriuria 		disease Disease or Syndrome 17 0.010 None 1.000 1 2018 2018
CUI: C0239134
Disease: Productive Cough
Productive Cough 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 17 0.100 None 0
CUI: C4552938
Disease: Productive Cough, CTCAE
Productive Cough, CTCAE 		phenotype Finding 17 0.100 None 0
CUI: C0020595
Disease: Hypoaldosteronism
Hypoaldosteronism 		disease Endocrine System Diseases Disease or Syndrome 18 0.010 None 1.000 1 2014 2014
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 0.600 strong 1.000 13 1996 2019
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 0.560 None 1.000 7 1996 2013
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 0.430 None 1.000 4 1996 2016
CUI: C0339985
Disease: Idiopathic bronchiectasis
Idiopathic bronchiectasis 		disease Respiratory Tract Diseases Disease or Syndrome 21 6 0.300 None 1.000 2 2008 2011
CUI: C1846347
Disease: Renal salt wasting
Renal salt wasting 		phenotype Finding 22 0.100 None 0
CUI: C0034642
Disease: Rales
Rales 		phenotype Pathological Conditions, Signs and Symptoms Finding 23 0.100 None 0
CUI: C3163798
Disease: Recurrent lower respiratory tract infection
Recurrent lower respiratory tract infection 		phenotype Disease or Syndrome 23 0.100 None 0
CUI: C0235063
Disease: Respiratory Depression
Respiratory Depression 		phenotype Respiratory Tract Diseases Pathologic Function 24 5 0.100 None 0
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 25 7 0.030 None 1.000 3 2009 2013
CUI: C0400822
Disease: Colitis, Lymphocytic
Colitis, Lymphocytic 		disease Digestive System Diseases Disease or Syndrome 25 0.010 None 1.000 1 2016 2016