DisGeNET - a database of gene-disease associations

Apparent mineralocorticoid excess, C3887949

Variant: rs28934592 ×

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:

rs28934592

HSD11B2

0.800

GeneticVariation

UNIPROT

Impaired protein stability of 11beta-hydroxysteroid dehydrogenase type 2: a novel mechanism of apparent mineralocorticoid excess.

17314322

2007

dbSNP:

rs28934592

HSD11B2

0.800

GeneticVariation

UNIPROT

Two homozygous mutations in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess.

12788846

2003

dbSNP:

rs28934592

HSD11B2

0.800

GeneticVariation

UNIPROT

A mutation in the cofactor-binding domain of 11beta-hydroxysteroid dehydrogenase type 2 associated with mineralocorticoid hypertension.

11238516

2001

dbSNP:

rs28934592

HSD11B2

0.800

GeneticVariation

UNIPROT

Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess.

10523339

1999

dbSNP:

rs28934592

HSD11B2

0.800

GeneticVariation

UNIPROT

Genetic, biochemical, and clinical studies of patients with A328V or R213C mutations in 11betaHSD2 causing apparent mineralocorticoid excess.

10489390

1999

dbSNP:

rs28934592

HSD11B2

0.800

GeneticVariation

UNIPROT

Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess.

9661590

1998

dbSNP:

rs28934592

HSD11B2

0.800

GeneticVariation

UNIPROT

"Molecular basis for hypertension in the ""type II variant"" of apparent mineralocorticoid excess."

9683587

1998

dbSNP:

rs28934592

HSD11B2

0.800

GeneticVariation

UNIPROT

The codon 213 of the 11beta-hydroxysteroid dehydrogenase type 2 gene is a hot spot for mutations in apparent mineralocorticoid excess.

9851783

1998

dbSNP:

rs28934592

HSD11B2

0.800

GeneticVariation

UNIPROT

Together, these results indicate that this patient is a compound heterozygote for the mutation in the 11 beta HSD2 gene (R208H and R337H, delta Y338) and that these mutations inactivate the 11 beta HSD2 function and give rise to clinically manifest AME.

9398712

1997

dbSNP:

rs28934592

HSD11B2

0.800

GeneticVariation

UNIPROT

Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase.

7670488

1995

dbSNP:

rs28934592

HSD11B2

0.800

GeneticVariation

UNIPROT

Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess.

7593417

1995

dbSNP:

rs28934592

HSD11B2

0.800

GeneticVariation

UNIPROT

A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess.

7608290

1995

dbSNP:

rs28934592

HSD11B2

0.800

CausalMutation

CLINVAR