Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 GeneticVariation disease BEFREE Antibodies to vasopressin were not detected in patients with primary polydipsia, nephrogenic diabetes insipidus, or neurogenic diabetes insipidus studied before therapy with antidiuretic hormone. 3341651 1988
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 GeneticVariation disease BEFREE Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis. 14673472 2004
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 GeneticVariation disease BEFREE Differential cellular handling of defective arginine vasopressin (AVP) prohormones in cells expressing mutations of the AVP gene associated with autosomal dominant and recessive familial neurohypophyseal diabetes insipidus. 15356057 2004
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 Biomarker disease BEFREE Urinary excretion of AQP-2 was significantly increased by the single injection of AVP in patients with central diabetes insipidus. 10766399 2000
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 Biomarker disease BEFREE Our findings showed that AVP neurons underwent apoptosis induced by ER stress, and ER stress might play a vital role in CDI condition through the PI3K/Akt and ERK pathways. 30677238 2019
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 Biomarker disease BEFREE Central diabetes insipidus is the end result of a number of different diseases that affect the hypothalamic-neurohypophyseal system. 17451074 2007
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 Biomarker disease BEFREE The homozygous guanine insertion in intron 2 (IVS2 +28 InsG) is unlikely to contribute to the AVP-NPII gene modulation in DI. 20520956 2010
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 GeneticVariation disease BEFREE The identification, characterization, and mutational analysis of three different genes, namely the prepro-arginine-vasopressin-neurophysin II gene (prepro-AVP-NPII), the arginine-vasopressin receptor 2 gene (AVPR2), and the vasopressin-sensitive water channel gene (aquaporin-2, AQP2), provide the basis for our understanding of three different hereditary forms of diabetes insipidus: autosomal dominant neurogenic diabetes insipidus, X-linked nephrogenic diabetes insipidus, and autosomal recessive nephrogenic diabetes insipidus, respectively. 7541187 1995
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 GeneticVariation disease BEFREE We concluded that a novel splicing mutation in the AVP-NP II gene causes neurohypophyseal diabetes insipidus in this family. 16006166 2006
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 GeneticVariation disease BEFREE Autosomal dominant familial neurohypophyseal diabetes insipidus is caused by mutations in the arginine vasopressin (AVP) gene. 10085151 1999
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 Biomarker disease BEFREE We conclude that measurement of AVP by RIA during a hypertonic saline infusion test can differentiate patients with CDI from those without CDI with a high degree of accuracy. 31748430 2020
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 Biomarker disease 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
1.000 Biomarker disease BEFREE Data are presented suggesting that the association between the biosynthesis of neurophysin I and AVP on the one hand, and neurophysin II and OT on the other hand is maintained in patients with isolated AVP deficiency on the basis of a congenital defect. 263336 1978
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 Biomarker disease BEFREE Opioid-induced hyponatremia in a patient with central diabetes insipidus: independence from ADH. 28593907 2017
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 Biomarker disease BEFREE Central diabetes insipidus (CDI) is the result of a deficiency of arginine vasopressin, and its major causes are idiopathic, primary or secondary tumors, neurosurgery and trauma. 27075406 2016
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 GeneticVariation disease BEFREE A novel AVP gene mutation in a Turkish family with neurohypophyseal diabetes insipidus. 26208472 2016
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 GeneticVariation disease BEFREE We describe a novel missense mutant of arginine vasopressin (AVP)-dependent neurohypophyseal diabetes insipidus in an autosomal dominant family. 15644573 2004
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 Biomarker disease BEFREE The role of neurophysins in the hypothalamo-neurohypophyseal system is now being reconsidered in the light of crystallographic and molecular biology research and the recent definition of the different deletions or substitutions that cause central diabetes insipidus in rats (Brattleboro) or human beings. 8964580 1996
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 Biomarker disease BEFREE These data demonstrate that chronic AVP deficiency impacts behavioral arousal during adolescence and support the hypothesis that AVP influences adolescent social development, in part, through its regulation of arousal. 30184461 2018
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 GeneticVariation disease BEFREE Identification of five novel arginine vasopressin gene mutations in patients with familial neurohypophyseal diabetes insipidus. 27513365 2016
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 Biomarker disease BEFREE A marked copeptin peak was identified at 1 hour after extubation, when a value below or equal to 12.8 pmol/L had a good accuracy in identifying CDI cases (AUC 0.866, 95% CI 0.751 - 0.941). 31484187 2019
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 GeneticVariation disease BEFREE Impaired trafficking of mutated AVP prohormone in cells expressing rare disease genes causing autosomal dominant familial neurohypophyseal diabetes insipidus. 14678298 2004
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 Biomarker disease BEFREE Copeptin identified CDI with an AUC of 0.99 (95% CI 0.97-1.00), and a cut-off value ≤ 4.4pmol/L showed a sensitivity of 100% and a specificity of 99% to predict CDI. 29422070 2018
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 Biomarker disease BEFREE In addition, the number of AVP-positive cells in supraoptic nucleus (SON) and paraventricular nucleus (PVN) decreased after PEL, which confirmed the success of the CDI model. 29681579 2018
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 GeneticVariation disease BEFREE The Novel Ser18del AVP Variant Causes Inherited Neurohypophyseal Diabetes Insipidus by Mechanisms Shared with Other Signal Peptide Variants. 28494452 2018