DisGeNET - a database of gene-disease associations

Apparent mineralocorticoid excess, C3887949

Variant: rs121917833 ×

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:

rs121917833

HSD11B2

0.810

GeneticVariation

BEFREE

We studied two patients diagnosed with AME and their families carrying either D223N or R213C mutation.

29617893

2018

dbSNP:

rs121917833

HSD11B2

0.810

GeneticVariation

UNIPROT

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

17314322

2007

dbSNP:

rs121917833

HSD11B2

0.810

GeneticVariation

UNIPROT

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

12788846

2003

dbSNP:

rs121917833

HSD11B2

0.810

GeneticVariation

UNIPROT

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

11238516

2001

dbSNP:

rs121917833

HSD11B2

0.810

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:

rs121917833

HSD11B2

0.810

GeneticVariation

UNIPROT

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

10489390

1999

dbSNP:

rs121917833

HSD11B2

0.810

GeneticVariation

UNIPROT

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

9683587

1998

dbSNP:

rs121917833

HSD11B2

0.810

GeneticVariation

UNIPROT

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

9661590

1998

dbSNP:

rs121917833

HSD11B2

0.810

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:

rs121917833

HSD11B2

0.810

GeneticVariation

UNIPROT

A new compound heterozygous mutation in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess.

9398712

1997

dbSNP:

rs121917833

HSD11B2

0.810

GeneticVariation

UNIPROT

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

7593417

1995

dbSNP:

rs121917833

HSD11B2

0.810

GeneticVariation

UNIPROT

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

7670488

1995

dbSNP:

rs121917833

HSD11B2

0.810

GeneticVariation

UNIPROT

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

7608290

1995

dbSNP:

rs121917833

HSD11B2

0.810

CausalMutation

CLINVAR