AVPR2, arginine vasopressin receptor 2, 554

N. diseases: 134; N. variants: 38
Disease: Congenital Nephrogenic Diabetes Insipidus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus. 7913579 1994
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE Two novel mutations in the vasopressin V2 receptor gene in patients with congenital nephrogenic diabetes insipidus. 7999078 1994
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE In this report, two additional novel molecular defects of the arginine vasopressin V2 receptor gene in CNDI families are described. 7993996 1994
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE We identified three novel mutations of the arginine vasopressin (AVP) V2 receptor (AVPR2) gene in Japanese families with X-linked congenital nephrogenic diabetes insipidus (NDI). 8929875 1996
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE Hereditary nephrogenic diabetes insipidus (NDI) is caused by mutations in either the X-chromosomal gene encoding the vasopressin V2-receptor or in the autosomal gene encoding aquaporin-2. 8793791 1996
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE Thus, association of the V2R gene abnormality to clinical symptoms of CNDI was confirmed in three Japanese pedigrees, and a strong contribution of the V2R gene mutation to the development of CNDI was suggested. 8766937 1996
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 Biomarker disease BEFREE Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus. 8882880 1996
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE This test also identified an unexpectedly high urinary osmolality (614 mosmol/kg) in a patient with a P322S mutation of AVPR2 gene and a mild form of CNDI. 9402087 1997
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE Most cases of congenital nephrogenic diabetes insipidus (NDI) are inherited in an X-linked manner, which is due to the mutations of the vasopressin type 2 receptor (V2R) gene. 9329382 1997
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE Congenital nephrogenic diabetes insipidus (NDI) is a rare disease caused most often by mutations in the vasopressin V2 receptor (AVPR2). 9302264 1997
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 Biomarker disease BEFREE Disruption of AVPR2 causes X-linked congenital nephrogenic diabetes insipidus (NDI), yet the functional significance of most gene sequence variations found in association with NDI has not been proven. 9853256 1998
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE Vasopressin V2 receptor mutants from three different patients with congenital nephrogenic diabetes insipidus phenotypes were investigated after expression in COS cells. 11026555 2000
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE About 90% of patients with congenital nephrogenic diabetes insipidus are males with the X-linked recessive form of the disease (OMIM 304800) who have mutations in the arginine vasopressin receptor 2 gene (AVPR2), which codes for the vasopressin V2 receptor. 11181969 2001
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 Biomarker disease CTD_human Aminoglycoside pretreatment partially restores the function of truncated V(2) vasopressin receptors found in patients with nephrogenic diabetes insipidus. 12414899 2002
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 Biomarker disease CTD_human Aminoglycoside-mediated rescue of a disease-causing nonsense mutation in the V2 vasopressin receptor gene in vitro and in vivo. 14998935 2004
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE 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: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE There are three inheritance patterns of CNDI: the X-linked recessive form associated with vasopressin V2 receptor gene mutations, and the autosomal recessive and dominant forms associated with aquaporin-2 gene (AQP2) mutations. 16361827 2005
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE Congenital nephrogenic diabetes insipidus presented with bilateral hydronephrosis: genetic analysis of V2R gene mutations. 16502494 2006
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE Congenital nephrogenic diabetes insipidus (NDI) is a rare X-linked inherited disorder characterized by the excretion of large volumes of diluted urine and caused by mutations in arginine vasopressin receptor 2 (AVPR2) gene. 17101063 2006
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 Biomarker disease BEFREE A mutation was found in the same codon of the gene that results in a loss-of- function of arginine vasopressin receptor 2 (AVPR2) observed in congenital nephrogenic diabetes insipidus. 17115194 2007
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE Molecular genetic study of congenital nephrogenic diabetes insipidus and rescue of mutant vasopressin V2 receptor by chemical chaperones. 17371330 2007
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE About 90% of patients with congenital nephrogenic diabetes insipidus (NDI) have vasopressin type 2 receptor (V2R) gene mutations that are inherited in an X-linked recessive manner. 18323675 2008
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 Biomarker disease BEFREE Diverse vasopressin V2 receptor functionality underlying partial congenital nephrogenic diabetes insipidus. 19812297 2009
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 GeneticVariation disease BEFREE Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disease characterized by renal tubular unresponsiveness to the antidiuretic effect of arginine-vasopressin due to the mutations of two molecules, the vasopressin V2 receptor (AVPR2) and the aquasporin-2 water channel. 19449677 2009
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
Congenital Nephrogenic Diabetes Insipidus 		0.400 Biomarker disease CTD_human A selective EP4 PGE2 receptor agonist alleviates disease in a new mouse model of X-linked nephrogenic diabetes insipidus. 19729836 2009