DisGeNET - a database of gene-disease associations

AVPR2, arginine vasopressin receptor 2, 554

N. diseases: 134; N. variants: 38

Disease: Nephrogenic Diabetes Insipidus, Type I ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104894748

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.710

GeneticVariation

UNIPROT

Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients.

11916004

2002

dbSNP:

rs104894754

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.710

GeneticVariation

UNIPROT

Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients.

11916004

2002

dbSNP:

rs104894754

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.710

GeneticVariation

BEFREE

To date, only three AVPR2 mutations (P322S, D85N, and G201D) have been associated with a mild NDI phenotype, and intrafamilial phenotype variability has not been reported in affected males.

11920339

2002

dbSNP:

rs104894755

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.710

GeneticVariation

BEFREE

To date, only three AVPR2 mutations (P322S, D85N, and G201D) have been associated with a mild NDI phenotype, and intrafamilial phenotype variability has not been reported in affected males.

11920339

2002

dbSNP:

rs104894755

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.710

GeneticVariation

UNIPROT

Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients.

11916004

2002

dbSNP:

rs104894748

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.710

GeneticVariation

UNIPROT

The property of a novel v2 receptor mutant in a patient with nephrogenic diabetes insipidus.

11232028

2001

dbSNP:

rs104894754

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.710

GeneticVariation

UNIPROT

The property of a novel v2 receptor mutant in a patient with nephrogenic diabetes insipidus.

11232028

2001

dbSNP:

rs104894755

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.710

GeneticVariation

UNIPROT

The property of a novel v2 receptor mutant in a patient with nephrogenic diabetes insipidus.

11232028

2001

dbSNP:

rs104894748

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.710

GeneticVariation

BEFREE

In addition to the functional significance of the conserved cysteine residues, we have also analyzed the defects of two mutant V2 receptors which cause X-linked nephrogenic diabetes insipidus (NDI) by the introduction of additional cysteine residues into the second extracellular loop (mutants G185C, R202C).

10648821

2000

dbSNP:

rs104894748

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.710

GeneticVariation

UNIPROT

Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families.

10770218

2000

dbSNP:

rs104894748

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.710

GeneticVariation

UNIPROT

Misfolded vasopressin V2 receptors caused by extracellular point mutations entail congential nephrogenic diabetes insipidus.

11026555

2000

dbSNP:

rs104894754

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.710

GeneticVariation

UNIPROT

By screening NDI patients for mutations within the AVPR2 gene we have identified three novel (I46K, F105V, I130F) and four recurrent (D85N, R106C, R113W, Q225X) mutations.

10770218

2000

dbSNP:

rs104894754

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.710

GeneticVariation

UNIPROT

Misfolded vasopressin V2 receptors caused by extracellular point mutations entail congential nephrogenic diabetes insipidus.

11026555

2000

dbSNP:

rs104894755

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.710

GeneticVariation

UNIPROT

Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families.

10770218

2000

dbSNP:

rs104894755

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.710

GeneticVariation

UNIPROT

Misfolded vasopressin V2 receptors caused by extracellular point mutations entail congential nephrogenic diabetes insipidus.

11026555

2000

dbSNP:

rs104894748

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.710

GeneticVariation

UNIPROT

V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms.

9711877

1998

dbSNP:

rs104894748

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.710

GeneticVariation

UNIPROT

C112R, W323S, N317K mutations in the vasopressin V2 receptor gene in patients with nephrogenic diabetes insipidus. Mutations in brief no. 165. Online.

10694923

1998

dbSNP:

rs104894748

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.710

GeneticVariation

UNIPROT

Mutational analyses of AVPR2 gene in three Japanese families with X-linked nephrogenic diabetes insipidus: two recurrent mutations, R137H and deltaV278, caused by the hypermutability at CpG dinucleotides.

9452109

1998

dbSNP:

rs104894754

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.710

GeneticVariation

UNIPROT

9452109

1998

dbSNP:

rs104894754

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.710

GeneticVariation

UNIPROT

C112R, W323S, N317K mutations in the vasopressin V2 receptor gene in patients with nephrogenic diabetes insipidus. Mutations in brief no. 165. Online.

10694923

1998

dbSNP:

rs104894754

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.710

GeneticVariation

UNIPROT

V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms.

9711877

1998

dbSNP:

rs104894755

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.710

GeneticVariation

UNIPROT

V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms.

9711877

1998

dbSNP:

rs104894755

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.710

GeneticVariation

UNIPROT

C112R, W323S, N317K mutations in the vasopressin V2 receptor gene in patients with nephrogenic diabetes insipidus. Mutations in brief no. 165. Online.

10694923

1998

dbSNP:

rs104894755

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.710

GeneticVariation

UNIPROT

9452109

1998

dbSNP:

rs104894748

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.710

GeneticVariation

UNIPROT

Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus.

7560098

1995