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 GENOMICS_ENGLAND
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 Biomarker disease HPO
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 CausalMutation disease CLINVAR
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 GeneticVariation disease CLINVAR
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 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 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 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 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 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 UNIPROT A missense mutation encoding cys(67) --> gly in neurophysin ii is associated with early onset autosomal dominant neurohypophyseal diabetes insipidus. 11161827 2001
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 GeneticVariation disease LHGDN A missense mutation encoding Cys73Phe in neurophysin II is associated with autosomal dominant neurohypophyseal diabetes insipidus. 12359138 2003
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 GeneticVariation disease UNIPROT A missense mutation encoding Cys73Phe in neurophysin II is associated with autosomal dominant neurohypophyseal diabetes insipidus. 12359138 2003
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 GeneticVariation disease UNIPROT A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus. 1740104 1992
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 Biomarker disease MGD A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neurons. 14660745 2003
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 GeneticVariation disease UNIPROT A new missense mutation of the vasopressin-neurophysin II gene in a family with neurohypophyseal diabetes insipidus. 12931042 2003
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 GeneticVariation disease UNIPROT A new mutation of the arginine vasopressin-neurophysin II gene in a family with autosomal dominant neurohypophyseal diabetes insipidus. 11748489 2001
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 GeneticVariation disease UNIPROT A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes. 11150885 2000
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 A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early-onset neurohypophyseal diabetes insipidus. 22168581 2013
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 GeneticVariation disease BEFREE A novel variation in the AVP gene resulting in familial neurohypophyseal diabetes insipidus in a large Italian kindred. 22695750 2013
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 Biomarker disease RGD Apoptosis of supraoptic AVP neurons is involved in the development of central diabetes insipidus after hypophysectomy in rats. 18578860 2008
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 GeneticVariation disease LHGDN As in previously studied patients, adFNDI apparently manifested after birth, was due to a partial or severe deficiency of AVP, and was associated with absence or diminution of the hyperintense MRI signal normally emitted by the posterior pituitary, and with a heterozygous mutation in the AVP-NPII gene. 11980620 2002
Entrez Id: 551
Gene Symbol: AVP
AVP
1.000 GeneticVariation disease UNIPROT As in previously studied patients, adFNDI apparently manifested after birth, was due to a partial or severe deficiency of AVP, and was associated with absence or diminution of the hyperintense MRI signal normally emitted by the posterior pituitary, and with a heterozygous mutation in the AVP-NPII gene. 11980620 2002