AVPR2, arginine vasopressin receptor 2, 554

N. diseases: 134; N. variants: 38
Disease: Dysmorphic features ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus. 26077742 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis. 26131744 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Congenital nephrogenic diabetes insipidus: the current state of affairs. 22427315 2012
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus. 20459358 2010
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Long-term growth of children with nephrogenic diabetes insipidus. 18584216 2008
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Nephrogenic syndrome of inappropriate antidiuresis. 15872203 2005
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus. 10477148 1999