DisGeNET - a database of gene-disease associations

Polycystic Kidney, Autosomal Dominant, C0085413

Variant: rs749004212 ×

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:

rs749004212

PKD2

0.700

CausalMutation

CLINVAR

System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease.

27782177

2016

dbSNP:

rs749004212

PKD2

0.700

CausalMutation

CLINVAR

Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.

24374109

2014

dbSNP:

rs749004212

PKD2

0.700

CausalMutation

CLINVAR

Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany.

23300259

2013

dbSNP:

rs749004212

PKD2

0.700

CausalMutation

CLINVAR

Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.

22508176

2012

dbSNP:

rs749004212

PKD2

0.700

CausalMutation

CLINVAR

Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.

12707387

2003

dbSNP:

rs749004212

PKD2

0.700

CausalMutation

CLINVAR

Location of mutations within the PKD2 gene influences clinical outcome.

10760080

2000

dbSNP:

rs749004212

PKD2

0.700

CausalMutation

CLINVAR

Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease.

10541293

1999