Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 The most frequent hyponatremic disorders related to AVP in these patients are the syndrome of inappropriate ADH secretion (SIADH) and the cerebral/renal salt wasting syndrome (C/RSW), while hypernatremic conditions include central diabetes insipidus (CDI) and adipsic CDI. 31401632 2020
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 GeneticVariation disease BEFREE While DI symptoms develop prior to detectable cell death in transgenic DI mice, the eventual loss of vasopressinergic neurons is accompanied by autophagy, but the mechanism leading to cell degeneration in autosomal dominant neurohypophyseal DI still remains unknown. 31785344 2020
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 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 In the present study, the AVP-NPII gene of a Chinese adult patient with central diabetes insipidus, the patient's symptomatic mother and an asymptomatic sister of the patient was sequenced. 31316622 2019
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 Biomarker disease BEFREE We present here an extraordinary case of developing permanent DI after mild TBI with the absence of neurohypophyseal bright spot on MRI with no other abnormal findings. 31142487 2019
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 Biomarker disease BEFREE Hydranencephaly is a congenital condition characterized by the complete or near-complete absence of the cerebral cortex and basal ganglia, while central diabetes insipidus (CDI) is a condition characterized by the inability to concentrate urine due to a deficiency in antidiuretic hormone (ADH). 30929071 2019
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 Biomarker disease 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
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 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
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 Biomarker disease BEFREE Disturbances in these regulatory mechanisms can lead to polyuria-polydipsia syndrome, which comprises of three different conditions: central diabetes insipidus (DI) due to insufficient secretion of AVP, nephrogenic DI caused by renal insensitivity to AVP action and primary polydipsia due to excessive fluid intake and consequent physiological suppression of AVP. 28967192 2018
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 Biomarker disease BEFREE Rabphilin-3A has been suggested as a novel autoantigen in infundibulo-neurohypophysitis (LINH), which leads to central diabetes insipidus through insufficient secretion of AVP. 29367474 2018
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 AlteredExpression disease BEFREE Central diabetes insipidus (DI) is a rare disease characterized by the excretion of excessive volumes of dilute urine due to reduced levels of the antidiuretic hormone arginine vasopressin (AVP), caused by an acquired or genetic defect in the neurohypophysis. 29081004 2018
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 Opioid-induced hyponatremia in a patient with central diabetes insipidus: independence from ADH. 28593907 2017
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 GeneticVariation disease BEFREE We investigated the clinical relationship between AVP, copeptin (the C-terminal fragment of the AVP precursor), and the development of relative AVP deficiency following hemorrhagic shock. 28716309 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 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 GeneticVariation disease 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
1.000 GeneticVariation disease BEFREE Identification of an AVP-NPII mutation within the AVP moiety in a family with neurohypophyseal diabetes insipidus: review of the literature. 26233932 2016
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 GeneticVariation disease BEFREE Early-onset CDI is associated with de novo mutations of the AVP gene and with hereditary WFS1 gene changes. 25740874 2015