DisGeNET - a database of gene-disease associations

Polycystic Kidney, Autosomal Dominant, C0085413

Variant: rs699 ×

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:

rs699

AGT

0.030

GeneticVariation

BEFREE

We hypothesized that the AGT M235T and ATR A1166C polymorphisms could account for some of the variability in the progression of ADPKD.

12950120

2003

dbSNP:

rs699

AGT

0.030

GeneticVariation

BEFREE

We examined the ACE I/D and angiotensinogen M235T polymorphisms in 176 patients with ADPKD.

11142763

2000

dbSNP:

rs699

AGT

0.030

GeneticVariation

BEFREE

To determine the effect of the ACE gene insertion/deletion (I/D) polymorphism, angiotensinogen gene M235T polymorphism and the angiotensin 1 receptor gene A1166C polymorphism on the age of onset of end-stage renal failure (ESRF) in PKD1 adult autosomal-dominant polycystic kidney disease (ADPKD), 189 individuals from 46 families with PKD1 were genotyped for each polymorphism.

9291178

1997