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

Results per page

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:

rs104894751

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.010

GeneticVariation

BEFREE

The Hopewell mutation (W71X) causes the disease in the largest North American NDI pedigree, with most of its members residing on Nova Scotia.

7920187

1994

dbSNP:

rs104894747

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.700

GeneticVariation

UNIPROT

Novel mutations underlying nephrogenic diabetes insipidus in Arab families.

16845277

2006

dbSNP:

rs104894749

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.700

GeneticVariation

UNIPROT

Novel mutations underlying nephrogenic diabetes insipidus in Arab families.

16845277

2006

dbSNP:

rs104894750

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.700

GeneticVariation

UNIPROT

Novel mutations underlying nephrogenic diabetes insipidus in Arab families.

16845277

2006

dbSNP:

rs104894752

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.700

GeneticVariation

UNIPROT

Novel mutations underlying nephrogenic diabetes insipidus in Arab families.

16845277

2006

dbSNP:

rs104894757

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.700

GeneticVariation

UNIPROT

Novel mutations underlying nephrogenic diabetes insipidus in Arab families.

16845277

2006

dbSNP:

rs104894758

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.700

GeneticVariation

UNIPROT

Novel mutations underlying nephrogenic diabetes insipidus in Arab families.

16845277

2006

dbSNP:

rs104894759

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.700

GeneticVariation

UNIPROT

Novel mutations underlying nephrogenic diabetes insipidus in Arab families.

16845277

2006

dbSNP:

rs104894760

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.700

GeneticVariation

UNIPROT

Novel mutations underlying nephrogenic diabetes insipidus in Arab families.

16845277

2006

dbSNP:

rs193922122

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.700

GeneticVariation

UNIPROT

Novel mutations underlying nephrogenic diabetes insipidus in Arab families.

16845277

2006

dbSNP:

rs193922123

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.700

GeneticVariation

UNIPROT

Novel mutations underlying nephrogenic diabetes insipidus in Arab families.

16845277

2006

dbSNP:

rs28935496

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.700

GeneticVariation

UNIPROT

Novel mutations underlying nephrogenic diabetes insipidus in Arab families.

16845277

2006

dbSNP:

rs782806507

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.700

GeneticVariation

UNIPROT

Novel mutations underlying nephrogenic diabetes insipidus in Arab families.

16845277

2006

dbSNP:

rs104894747

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.700

GeneticVariation

UNIPROT

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

11916004

2002

dbSNP:

rs104894749

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.700

GeneticVariation

UNIPROT

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

11916004

2002

dbSNP:

rs104894750

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.700

GeneticVariation

UNIPROT

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

11916004

2002

dbSNP:

rs104894752

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.700

GeneticVariation

UNIPROT

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

11916004

2002

dbSNP:

rs104894757

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.700

GeneticVariation

UNIPROT

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

11916004

2002

dbSNP:

rs104894758

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.700

GeneticVariation

UNIPROT

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

11916004

2002

dbSNP:

rs104894759

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.700

GeneticVariation

UNIPROT

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

11916004

2002

dbSNP:

rs104894760

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.700

GeneticVariation

UNIPROT

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

11916004

2002

dbSNP:

rs193922122

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.700

GeneticVariation

UNIPROT

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

11916004

2002

dbSNP:

rs193922123

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.700

GeneticVariation

UNIPROT

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

11916004

2002

dbSNP:

rs28935496

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.700

GeneticVariation

UNIPROT

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

11916004

2002

dbSNP:

rs782806507

Entrez Id:	554
Gene Symbol:	AVPR2

AVPR2

CUI:	C1563705
Disease:

Nephrogenic Diabetes Insipidus, Type I

0.700

GeneticVariation

UNIPROT

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

11916004

2002