Source: BEFREE ×
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: C1855849
Disease: Bartter syndrome, antenatal , type 2
Bartter syndrome, antenatal , type 2 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1 0.910 strong 1.000 1 1996 2012
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 45 8 0.400 None 1.000 26 2 1997 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 1973 871 0.310 None 1.000 1 2012 2018
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 72 1 0.130 None 1.000 3 2009 2017
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism 		disease Endocrine System Diseases Disease or Syndrome 63 6 0.120 None 1.000 2 2011 2017
CUI: C0085602
Disease: Polydipsia
Polydipsia 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 23 4 0.110 None 1.000 1 2002 2002
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1219 153 0.110 None 1.000 1 1 2011 2011
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 157 10 0.110 None 1.000 1 2003 2003
CUI: C0011175
Disease: Dehydration
Dehydration 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 222 4 0.110 None 1.000 1 2018 2018
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 24 24 0.030 None 1.000 3 1999 2010
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2694 1598 0.030 None 0.667 3 1996 1998
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2650 714 0.020 None 1.000 2 2013 2015
CUI: C0001430
Disease: Adenoma
Adenoma 		group Neoplasms Neoplastic Process 1126 103 0.020 None 1.000 2 1 2014 2017
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2314 611 0.020 None 1.000 2 2013 2015
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 67 1 0.020 None 0.500 2 2002 2018
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
Hyperuricemic Nephropathy, Familial Juvenile 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 6 1 0.010 None 1.000 1 2011 2011
CUI: C1846343
Disease: Bartter syndrome, type 3
Bartter syndrome, type 3 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 8 2 0.010 None 1.000 1 2003 2003
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1006 155 0.010 None 1.000 1 2009 2009
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 21 3 0.010 None 1.000 1 2015 2015
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2015 2015
CUI: C4525496
Disease: Hamster Insulinoma
Hamster Insulinoma 		disease Neoplastic Process 7 0.010 None 1.000 1 1995 1995
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.010 None 1.000 1 1997 1997
CUI: C1859040
Disease: Medullary Cystic Kidney Disease Type 2
Medullary Cystic Kidney Disease Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 5 0.010 None 1.000 1 2011 2011
CUI: C1960636
Disease: Dysglycemia
Dysglycemia 		disease Disease or Syndrome 31 2 0.010 None 1.000 1 2013 2013
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 81 4 0.010 None 1.000 1 2003 2003