DisGeNET - a database of gene-disease associations

Polycystic Kidney, Autosomal Dominant, C0085413

Variant: rs1131692280 ×

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:

rs1131692280

PKD2

0.700

CausalMutation

CLINVAR

Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

22383692

2012

dbSNP:

rs1131692280

PKD2

0.700

CausalMutation

CLINVAR

Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic.

22863349

2012

dbSNP:

rs1131692280

PKD2

0.700

CausalMutation

CLINVAR

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.

17582161

2007

dbSNP:

rs1131692280

PKD2

0.700

CausalMutation

CLINVAR

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

12707387

2003

dbSNP:

rs1131692280

PKD2

0.700

CausalMutation

CLINVAR

Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients.

11007674

2000