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: C4748251
Disease: LIDDLE SYNDROME 2
LIDDLE SYNDROME 2 		disease Disease or Syndrome 1 2 0.100 None 0 2
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.500 None 1.000 10 1 1996 2018
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 0.370 None 1.000 7 1 2006 2019
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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.300 None 0 1
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: 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: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.120 None 1.000 2 2004 2009
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 166 122 0.020 None 1.000 2 2004 2009
CUI: C3887638
Disease: Failure to thrive in infant
Failure to thrive in infant 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 81 4 0.020 None 1.000 2 2004 2009
CUI: C0020625
Disease: Hyponatremia
Hyponatremia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 109 11 0.120 None 1.000 2 2013 2019
CUI: C0011175
Disease: Dehydration
Dehydration 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 295 6 0.120 None 1.000 2 2013 2019
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: 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 2019 2019
CUI: C0024115
Disease: Lung diseases
Lung diseases 		group Respiratory Tract Diseases Disease or Syndrome 700 50 0.310 limited 1.000 1 2006 2006
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 1 2006 2006
CUI: C0266292
Disease: Congenital anomaly of the kidney
Congenital anomaly of the kidney 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 63 4 0.010 None 1.000 1 2017 2017
CUI: C0400822
Disease: Colitis, Lymphocytic
Colitis, Lymphocytic 		disease Digestive System Diseases Disease or Syndrome 25 0.010 None 1.000 1 2016 2016
CUI: C0034186
Disease: Pyelonephritis
Pyelonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 71 0.010 None 1.000 1 2017 2017
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2689 322 0.010 None 1.000 1 1998 1998
CUI: C0042029
Disease: Urinary tract infection
Urinary tract infection 		group Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 219 14 0.010 None 1.000 1 2017 2017
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2007 2007
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