DisGeNET - a database of gene-disease associations

Nephrogenic Diabetes Insipidus, Type II, C1563706

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs770932012

AQP2 ; LOC101927318

0.700

GeneticVariation

CLINVAR

Functional Recovery of AQP2 Recessive Mutations Through Hetero-Oligomerization with Wild-Type Counterpart.

27641679

2016

dbSNP:

rs104894326

AQP2 ; LOC101927318

0.700

GeneticVariation

UNIPROT

Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene.

24944815

2014

dbSNP:

rs104894328

AQP2 ; LOC101927318

0.700

GeneticVariation

UNIPROT

Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene.

24944815

2014

dbSNP:

rs104894329

AQP2 ; LOC101927318

0.700

GeneticVariation

UNIPROT

Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene.

24944815

2014

dbSNP:

rs104894330

AQP2 ; LOC101927318

0.700

GeneticVariation

UNIPROT

Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene.

24944815

2014

dbSNP:

rs104894331

AQP2 ; LOC101927318

0.700

GeneticVariation

UNIPROT

Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene.

24944815

2014

dbSNP:

rs104894332

AQP2 ; LOC101927318

0.700

GeneticVariation

UNIPROT

Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene.

24944815

2014

dbSNP:

rs104894333

AQP2 ; LOC101927318

0.700

GeneticVariation

UNIPROT

Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene.

24944815

2014

dbSNP:

rs104894334

AQP2 ; LOC101927318

0.700

GeneticVariation

UNIPROT

Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene.

24944815

2014

dbSNP:

rs104894335

AQP2 ; LOC101927318

0.700

GeneticVariation

UNIPROT

Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene.

24944815

2014

dbSNP:

rs104894336

AQP2

0.700

GeneticVariation

UNIPROT

Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene.

24944815

2014

dbSNP:

rs104894337

AQP2 ; LOC101927318

0.700

GeneticVariation

UNIPROT

Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene.

24944815

2014

dbSNP:

rs104894338

AQP2 ; LOC101927318

0.700

GeneticVariation

UNIPROT

Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene.

24944815

2014

dbSNP:

rs104894339

AQP2 ; LOC101927318

0.700

GeneticVariation

UNIPROT

Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene.

24944815

2014

dbSNP:

rs104894341

AQP2 ; LOC101927318

0.700

GeneticVariation

UNIPROT

Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene.

24944815

2014

dbSNP:

rs1468828294

AQP2 ; LOC101927318

0.700

GeneticVariation

UNIPROT

Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene.

24944815

2014

dbSNP:

rs193922495

AQP2 ; LOC101927318

0.700

GeneticVariation

UNIPROT

Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene.

24944815

2014

dbSNP:

rs28931580

AQP2

0.700

GeneticVariation

UNIPROT

Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene.

24944815

2014

dbSNP:

rs761713751

AQP2 ; LOC101927318

0.700

GeneticVariation

UNIPROT

Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene.

24944815

2014

dbSNP:

rs104894326

AQP2 ; LOC101927318

0.700

GeneticVariation

UNIPROT

p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation.

19585583

2009

dbSNP:

rs104894326

AQP2 ; LOC101927318

0.700

GeneticVariation

UNIPROT

Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus.

19701945

2009

dbSNP:

rs104894328

AQP2 ; LOC101927318

0.700

GeneticVariation

UNIPROT

p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation.

19585583

2009

dbSNP:

rs104894328

AQP2 ; LOC101927318

0.700

GeneticVariation

UNIPROT

Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus.

19701945

2009

dbSNP:

rs104894329

AQP2 ; LOC101927318

0.700

GeneticVariation

UNIPROT

Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus.

19701945

2009

dbSNP:

rs104894329

AQP2 ; LOC101927318

0.700

GeneticVariation

UNIPROT

p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation.

19585583

2009