Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 551
Gene Symbol: AVP
AVP
0.400 Biomarker phenotype BEFREE Central diabetes insipidus (CDI) is characterized by polyuria and polydipsia caused by impairment of arginine vasopressin (AVP) secretion. 31748430 2020
Entrez Id: 551
Gene Symbol: AVP
AVP
0.400 Biomarker phenotype BEFREE Median (interquartile range) urine osmolality was reduced from 879 (705, 996) to 384 (319, 502) mOsm · kg-1 (P < 0.001); urine volume increased from 1.06 (0.90, 1.20) to 2.27 (1.52, 2.67) L · d-1 (P < 0.001); and baseline copeptin decreased from 12.9 (7.4, 21.9) pmol · L-1 to 7.8 (4.6;11.3) pmol · L-1 (P < 0.001). 30566641 2019
Entrez Id: 551
Gene Symbol: AVP
AVP
0.400 Biomarker phenotype BEFREE Absence of the anti-diuretic hormone, arginine vasopressin (AVP), facilitates copious free water urinary excretion (polyuria) in equal volumes to polydipsia to maintain plasma tonicity within normal physiological limits. 31284689 2019
Entrez Id: 551
Gene Symbol: AVP
AVP
0.400 AlteredExpression phenotype BEFREE The review identified that 3 of 23 infants developed WED. All patients developed polyuria within 2 days after surgery, with high serum osmolality and hypotonic urine; AVP was effective in treating these symptoms. 31845027 2019
Entrez Id: 551
Gene Symbol: AVP
AVP
0.400 Biomarker phenotype BEFREE Alternatively, hypoarousal could be a side effect of diabetes insipidus - polydipsia and polyuria seen in Hom rats due to loss of AVP facilitation of water reabsorption in the kidney. 31160697 2019
Entrez Id: 551
Gene Symbol: AVP
AVP
0.400 Biomarker phenotype BEFREE Nephrogenic diabetes insipidus (NDI) is a rare disorder of the renal collecting tubules, characterized by an inability to concentrate urine due to an impaired response to arginine vasopressin (AVP), resulting in dilute urine and polyuria. 31271558 2019
Entrez Id: 551
Gene Symbol: AVP
AVP
0.400 AlteredExpression phenotype BEFREE Epac1<sup>-/-</sup> and Epac2<sup>-/-</sup> mice developed polyuria despite elevated arginine vasopressin levels. 30252533 2019
Entrez Id: 551
Gene Symbol: AVP
AVP
0.400 Biomarker phenotype BEFREE Central diabetes insipidus (CDI) is characterized by hypotonic polyuria due to impairment of AVP secretion from the posterior pituitary. 30269342 2019
Entrez Id: 551
Gene Symbol: AVP
AVP
0.400 Biomarker phenotype BEFREE Familial neurohypophysial diabetes insipidus (FNDI), characterized by progressive polyuria and loss of arginine vasopressin (AVP) neurons, is an autosomal dominant disorder caused by AVP gene mutations. 29886132 2018
Entrez Id: 551
Gene Symbol: AVP
AVP
0.400 AlteredExpression phenotype BEFREE The pathophysiology of enuretic events is seemingly linked to nocturnal obstructive events, causing increased intra-abdominal pressure and altered systemic blood pressure that induces natriuresis and polyuria by altering levels of antidiuretic hormone, and atrial and brain natriuretic peptides. 28165541 2017
Entrez Id: 551
Gene Symbol: AVP
AVP
0.400 Biomarker phenotype BEFREE Nephrogenic diabetes insipidus is a condition characterized by polyuria with dilute urine due to the inability of the principal cells of the renal collecting ducts to respond to antidiuretic hormone and concentrate urine. 27780577 2017
Entrez Id: 551
Gene Symbol: AVP
AVP
0.400 Biomarker phenotype BEFREE Diabetes insipidus is a disease characterized by polyuria and polydipsia due to inadequate release of arginine vasopressin from the posterior pituitary gland (neurohypophyseal diabetes insipidus) or due to arginine vasopressin insensitivity by the renal distal tubule, leading to a deficiency in tubular water reabsorption (nephrogenic diabetes insipidus). 28476225 2017
Entrez Id: 551
Gene Symbol: AVP
AVP
0.400 Biomarker phenotype BEFREE Familial neurohypophyseal diabetes insipidus (FNDI) is a genetic disorder presenting with polyuria and polydipsia and is caused by mutations in the arginine vasopressin-neurophysin II (AVP-NPII) gene. 27513365 2016
Entrez Id: 551
Gene Symbol: AVP
AVP
0.400 GeneticVariation phenotype BEFREE What is New: • Two novel mutations of the AVP gene are reported • The importance of molecular testing in children with polyuria and inconclusive water deprivation test is emphasized. 27539621 2016
Entrez Id: 551
Gene Symbol: AVP
AVP
0.400 Biomarker phenotype BEFREE Neurohypophyseal diabetes insipidus is characterized by polyuria and polydipsia owing to partial or complete deficiency of the antidiuretic hormone, arginine vasopressin (AVP). 27156762 2016
Entrez Id: 551
Gene Symbol: AVP
AVP
0.400 GeneticVariation phenotype BEFREE The early polyuria in recessive central diabetes insipidus contrasts with the delayed presentation in patients with monoallelic AVP mutations. 26565711 2016
Entrez Id: 551
Gene Symbol: AVP
AVP
0.400 Biomarker phenotype BEFREE The mutations lead to aberrant preprohormone processing and progressive destruction of AVP-secreting cells, which gradually manifests a progressive polyuria and polydipsia during early childhood, and a disorder of water homeostasis. 23252994 2013
Entrez Id: 551
Gene Symbol: AVP
AVP
0.400 Biomarker phenotype BEFREE The analyses of knock-in mice expressing a mutant NPII that causes FNDI in humans demonstrated that polyuria progressed substantially in the absence of loss of AVP neurones. 20492364 2010
Entrez Id: 551
Gene Symbol: AVP
AVP
0.400 Biomarker phenotype BEFREE Congenital nephrogenic diabetes insipidus (NDI) is a chronic disorder involving polyuria and polydipsia that results from unresponsiveness of the renal collecting ducts to the antidiuretic hormone vasopressin. 18653713 2008
Entrez Id: 551
Gene Symbol: AVP
AVP
0.400 Biomarker phenotype BEFREE Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is a rare autosomal dominant disorder characterized by polyuria and polydipsia due to deficiency of arginine vasopressin (AVP). 19169480 2008
Entrez Id: 551
Gene Symbol: AVP
AVP
0.400 Biomarker phenotype BEFREE Nephrogenic diabetes insipidus (NDI) is an inherited disorder characterized by renal resistance to the antidiuretic effect of arginine vasopressin (AVP), resulting in polyuria, polydipsia, and hypoosmolar urine. 17020465 2006
Entrez Id: 551
Gene Symbol: AVP
AVP
0.400 GeneticVariation phenotype BEFREE The homozygous individuals reported subjective improvement in polyuria and polydipsia with the use of dDAVP (1-desamino-8-D-arginine-vasopressin). 15100362 2004
Entrez Id: 551
Gene Symbol: AVP
AVP
0.400 GeneticVariation phenotype BEFREE Daily urine volume increased to 4 to 5 L, and AVP plasma level was very low. 11603568 2001
Entrez Id: 551
Gene Symbol: AVP
AVP
0.400 Therapeutic phenotype CTD_human Acute myeloid leukaemia with trilineage myelodysplasia complicated by masked diabetes insipidus. 11012637 2000
Entrez Id: 551
Gene Symbol: AVP
AVP
0.400 Biomarker phenotype BEFREE The autosomal dominant form of familial neurohypophyseal diabetes insipidus (adFNDI) is a rare disease characterized by postnatal onset of polyuria and a deficient neurosecretion of the antidiuretic hormone, arginine vasopressin (AVP). 10443701 1999