Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis. 26131744

2015
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus. 26077742

2015
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Congenital nephrogenic diabetes insipidus: the current state of affairs. 22427315

2012
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature. 22386940

2012
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus. 20459358

2010
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Long-term growth of children with nephrogenic diabetes insipidus. 18584216

2008
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Nephrogenic syndrome of inappropriate antidiuresis. 15872203

2005
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR A novel deletion mutation in the arginine vasopressin receptor 2 gene and skewed X chromosome inactivation in a female patient with congenital nephrogenic diabetes insipidus. 15129813

2004
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus. 10477148

1999