AQP2, aquaporin 2, 359

N. diseases: 114; N. variants: 41
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: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 280 35 0.010 None 1.000 1 2018 2018
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C1845202
Disease: Nephrogenic Syndrome of Inappropriate Antidiuresis
Nephrogenic Syndrome of Inappropriate Antidiuresis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 14 4 0.020 None 1.000 2 2010 2019
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 294 116 0.010 None 1.000 1 1 2018 2018
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease Digestive System Diseases Disease or Syndrome 420 15 0.010 None 1.000 1 2019 2019
CUI: C0014175
Disease: Endometriosis
Endometriosis 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1188 274 0.010 None 1.000 1 2011 2011
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 208 28 0.100 None 0
CUI: C0162283
Disease: Nephrogenic Diabetes Insipidus
Nephrogenic Diabetes Insipidus 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 60 41 0.900 strong 1.000 77 10 1988 2020
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
Nephrogenic Diabetes Insipidus, Type I 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 24 43 0.400 None 0.968 62 11 1994 2020
CUI: C1563706
Disease: Nephrogenic Diabetes Insipidus, Type II
Nephrogenic Diabetes Insipidus, Type II 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 3 24 0.700 strong 1.000 26 24 1994 2016
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 11 8 0.400 None 1.000 22 5 1996 2019
CUI: C0268443
Disease: Acquired Nephrogenic Diabetes Insipidus
Acquired Nephrogenic Diabetes Insipidus 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 3 0.310 None 1.000 5 1998 2009
CUI: C0041956
Disease: Ureteral obstruction
Ureteral obstruction 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 359 0.040 None 0.750 4 2018 2020
CUI: C3542500
Disease: ADH-Resistant Diabetes Insipidus
ADH-Resistant Diabetes Insipidus 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 3 0.300 None 1.000 4 2005 2009
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 826 32 0.030 None 1.000 3 2017 2019
CUI: C0035078
Disease: Kidney Failure
Kidney Failure 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 378 36 0.030 None 1.000 3 1 2007 2018
CUI: C0178879
Disease: Urinary tract obstruction
Urinary tract obstruction 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 27 0.020 None 1.000 2 2012 2015
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1074 306 0.020 None 1.000 2 2007 2017
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.120 None 1.000 2 2017 2019
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 253 18 0.010 None 1.000 1 2019 2019
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.010 None 1.000 1 1 2018 2018
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 827 425 0.010 None 1.000 1 1 2007 2007
CUI: C0022679
Disease: Cystic kidney
Cystic kidney 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 89 1 0.010 None 1.000 1 2017 2017
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 384 45 0.010 None 1.000 1 2015 2015
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 666 194 0.010 None 1.000 1 1 2007 2007