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: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0521620
Disease: Dilatation of ureter
Dilatation of ureter 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 72 2 0.100 None 0
CUI: C0546884
Disease: Hypovolemia
Hypovolemia 		phenotype Pathological Conditions, Signs and Symptoms Finding 37 3 0.100 None 0
CUI: C4015884
Disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE 		disease Finding 1 15 0.100 None 0 15
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		phenotype Behavior and Behavior Mechanisms Mental Process 147 14 0.100 None 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		phenotype Finding 305 22 0.100 None 0
CUI: C1855311
Disease: Megacystis
Megacystis 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding 8 3 0.100 None 0
CUI: C1855106
Disease: Neonatal onset
Neonatal onset 		phenotype Finding 27 0.100 None 0
CUI: C1850544
Disease: Hypernatremic dehydration
Hypernatremic dehydration 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Finding 3 0.100 None 0
CUI: C1844662
Disease: Unexplained fevers
Unexplained fevers 		phenotype Pathological Conditions, Signs and Symptoms Finding 14 4 0.100 None 0
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE 		phenotype Finding 140 0.100 None 0
CUI: C1112601
Disease: Hypertonic dehydration
Hypertonic dehydration 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 3 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C4015885
Disease: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DOMINANT
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DOMINANT 		disease Finding 1 3 0.100 None 0 3
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
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: C0015967
Disease: Fever
Fever 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1021 66 0.100 None 0
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 257 11 0.100 None 0
CUI: C0003123
Disease: Anorexia
Anorexia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 242 10 0.100 None 0
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 208 28 0.100 None 0
CUI: C0009806
Disease: Constipation
Constipation 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 424 57 0.100 None 0
CUI: C0011848
Disease: Diabetes Insipidus
Diabetes Insipidus 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 57 3 0.080 None 0.875 8 1995 2018
CUI: C0575090
Disease: Equilibration disorder
Equilibration disorder 		phenotype Nervous System Diseases Sign or Symptom 22 1 0.050 None 1.000 5 1998 2019
CUI: C0020625
Disease: Hyponatremia
Hyponatremia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 109 11 0.050 None 1.000 5 2 2010 2019