rs121917833
×
Entrez Id:
3291
Gene Symbol:
HSD11B2
HSD11B2
Apparent mineralocorticoid excess
0.810
GeneticVariation
BEFREE
We studied two patients diagnosed with AME and their families carrying either D223N or R213C mutation.
29617893
2018
rs121917833
×
Entrez Id:
3291
Gene Symbol:
HSD11B2
HSD11B2
Apparent mineralocorticoid excess
0.810
GeneticVariation
UNIPROT
Impaired protein stability of 11beta-hydroxysteroid dehydrogenase type 2: a novel mechanism of apparent mineralocorticoid excess.
17314322
2007
rs121917833
×
Entrez Id:
3291
Gene Symbol:
HSD11B2
HSD11B2
Apparent mineralocorticoid excess
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
rs121917833
×
Entrez Id:
3291
Gene Symbol:
HSD11B2
HSD11B2
Apparent mineralocorticoid excess
0.810
GeneticVariation
UNIPROT
A mutation in the cofactor-binding domain of 11beta-hydroxysteroid dehydrogenase type 2 associated with mineralocorticoid hypertension.
11238516
2001
rs121917833
×
Entrez Id:
3291
Gene Symbol:
HSD11B2
HSD11B2
Apparent mineralocorticoid excess
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
rs121917833
×
Entrez Id:
3291
Gene Symbol:
HSD11B2
HSD11B2
Apparent mineralocorticoid excess
0.810
GeneticVariation
UNIPROT
Genetic, biochemical, and clinical studies of patients with A328V or R213C mutations in 11betaHSD2 causing apparent mineralocorticoid excess.
10489390
1999
rs121917833
×
Entrez Id:
3291
Gene Symbol:
HSD11B2
HSD11B2
Apparent mineralocorticoid excess
0.810
GeneticVariation
UNIPROT
"Molecular basis for hypertension in the ""type II variant"" of apparent mineralocorticoid excess."
9683587
1998
rs121917833
×
Entrez Id:
3291
Gene Symbol:
HSD11B2
HSD11B2
Apparent mineralocorticoid excess
0.810
GeneticVariation
UNIPROT
Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess.
9661590
1998
rs121917833
×
Entrez Id:
3291
Gene Symbol:
HSD11B2
HSD11B2
Apparent mineralocorticoid excess
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
rs121917833
×
Entrez Id:
3291
Gene Symbol:
HSD11B2
HSD11B2
Apparent mineralocorticoid excess
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
rs121917833
×
Entrez Id:
3291
Gene Symbol:
HSD11B2
HSD11B2
Apparent mineralocorticoid excess
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
rs121917833
×
Entrez Id:
3291
Gene Symbol:
HSD11B2
HSD11B2
Apparent mineralocorticoid excess
0.810
GeneticVariation
UNIPROT
Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase.
7670488
1995
rs121917833
×
Entrez Id:
3291
Gene Symbol:
HSD11B2
HSD11B2
Apparent mineralocorticoid excess
0.810
GeneticVariation
UNIPROT
A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess.
7608290
1995
rs121917833
×
Entrez Id:
3291
Gene Symbol:
HSD11B2
HSD11B2
Apparent mineralocorticoid excess
A
0.810
CausalMutation
CLINVAR
rs121917780
×
Entrez Id:
3291
Gene Symbol:
HSD11B2
HSD11B2
Apparent mineralocorticoid excess
0.800
GeneticVariation
UNIPROT
Impaired protein stability of 11beta-hydroxysteroid dehydrogenase type 2: a novel mechanism of apparent mineralocorticoid excess.
17314322
2007
rs121917781
×
Entrez Id:
3291
Gene Symbol:
HSD11B2
HSD11B2
Apparent mineralocorticoid excess
0.800
GeneticVariation
UNIPROT
Impaired protein stability of 11beta-hydroxysteroid dehydrogenase type 2: a novel mechanism of apparent mineralocorticoid excess.
17314322
2007
rs28934591
×
Entrez Id:
3291
Gene Symbol:
HSD11B2
HSD11B2
Apparent mineralocorticoid excess
0.800
GeneticVariation
UNIPROT
Impaired protein stability of 11beta-hydroxysteroid dehydrogenase type 2: a novel mechanism of apparent mineralocorticoid excess.
17314322
2007
rs28934592
×
Entrez Id:
3291
Gene Symbol:
HSD11B2
HSD11B2
Apparent mineralocorticoid excess
0.800
GeneticVariation
UNIPROT
Impaired protein stability of 11beta-hydroxysteroid dehydrogenase type 2: a novel mechanism of apparent mineralocorticoid excess.
17314322
2007
rs28934594
×
Entrez Id:
3291
Gene Symbol:
HSD11B2
HSD11B2
Apparent mineralocorticoid excess
0.800
GeneticVariation
UNIPROT
Impaired protein stability of 11beta-hydroxysteroid dehydrogenase type 2: a novel mechanism of apparent mineralocorticoid excess.
17314322
2007
rs387907117
×
Entrez Id:
3291
Gene Symbol:
HSD11B2
HSD11B2
Apparent mineralocorticoid excess
0.800
GeneticVariation
UNIPROT
Impaired protein stability of 11beta-hydroxysteroid dehydrogenase type 2: a novel mechanism of apparent mineralocorticoid excess.
17314322
2007
rs121917780
×
Entrez Id:
3291
Gene Symbol:
HSD11B2
HSD11B2
Apparent mineralocorticoid excess
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
rs121917781
×
Entrez Id:
3291
Gene Symbol:
HSD11B2
HSD11B2
Apparent mineralocorticoid excess
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
rs28934591
×
Entrez Id:
3291
Gene Symbol:
HSD11B2
HSD11B2
Apparent mineralocorticoid excess
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
rs28934592
×
Entrez Id:
3291
Gene Symbol:
HSD11B2
HSD11B2
Apparent mineralocorticoid excess
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
rs28934594
×
Entrez Id:
3291
Gene Symbol:
HSD11B2
HSD11B2
Apparent mineralocorticoid excess
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