Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.800 GeneticVariation disease BEFREE These findings suggest a spectrum of partial 11β-HSD2 insufficiency in a primary care cohort without the classic phenotype and genotype of AME. 30239803 2019
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.800 GeneticVariation disease UNIPROT The codon 213 of the 11beta-hydroxysteroid dehydrogenase type 2 gene is a hot spot for mutations in apparent mineralocorticoid excess. 9851783 1998
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.800 GeneticVariation disease UNIPROT Genetic, biochemical, and clinical studies of patients with A328V or R213C mutations in 11betaHSD2 causing apparent mineralocorticoid excess. 10489390 1999
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.800 GeneticVariation disease BEFREE Apparent Mineralocorticoid Excess in the Pediatric Population: Report of a Novel Pathogenic Variant of the 11β-HSD2 Gene and Systematic Review of the Literature. 30888125 2019
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.800 GeneticVariation disease BEFREE Mutations in the HSD11B2 gene encoding the kidney (11-HSD2) isozyme of 11beta-hydroxysteroid dehydrogenase cause the syndrome of apparent mineralocorticoid excess, a form of salt-sensitive hypertension. 11196453 2000
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.800 GeneticVariation disease BEFREE The objective of the study was to characterize AME for possible novel HSD11B2 mutations and to define the role of HSD11B2 promoter methylation in the phenotypic expression of the disease. 26126204 2015
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.800 GeneticVariation disease UNIPROT Therefore, impaired 11beta-HSD2 protein stability rather than reduced gene expression or loss of catalytic activity seems to be responsible for the development of hypertension in some individuals with AME. 17314322 2007
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.800 GeneticVariation disease BEFREE In 1995, it was shown that mutations in the gene (HSD11B2) encoding the 11beta-hydroxysteroid dehydrogenase type 2 enzyme (11beta-HSD2) cause AME. 9707624 1998
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.800 GeneticVariation disease BEFREE Mutations in the gene encoding 11beta-hydroxysteroid dehydrogenase type 2, HSD11B2, cause a rare monogenic juvenile hypertensive syndrome called apparent mineralocorticoid excess (AME). 16778331 2006
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.800 GeneticVariation disease UNIPROT Apparent mineralocorticoid excess (AME) is a genetic disorder causing pre- and postnatal growth failure, juvenile hypertension, hypokalemic metabolic alkalosis, and hyporeninemic hypoaldosteronism due to a deficiency of 11 beta-hydroxysteroid dehydrogenase type 2 enzyme activity (11 beta HSD2). 9661590 1998
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.800 GeneticVariation disease 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
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.800 GeneticVariation disease BEFREE Genetic analysis of the HSD11B2 gene from the AME patients revealed the homozygous deletion of six nucleotides in exon 2 with the resultant loss of amino acids Leu(114) and Glu(115), representing the first alteration found in the cofactor-binding domain. 11238516 2001
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.800 GeneticVariation disease UNIPROT Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess. 10523339 1999
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.800 GeneticVariation disease UNIPROT A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess. 7608290 1995
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.800 GeneticVariation disease BEFREE Homozygous mutations in 11beta-HSD2 gene in patients with AME have been described. 9431844 1997
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.800 GeneticVariation disease BEFREE Pathogenic variations in HSD11B2 gene triggers the apparent mineralocorticoid excess syndrome (AME). 29617893 2018
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.800 GeneticVariation disease BEFREE Apparent mineralocorticoid excess (AME) syndrome patients were found to have congenital mutations resulting in non-functional renal 11β-hydroxysteroid dehydrogenase-2 (11β-HSD2) and severe hypertension often lethal in childhood. 28624548 2017
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.800 GeneticVariation disease BEFREE Apparent mineralocorticoid excess (AME) syndrome is a rare inherited disorder caused by 11beta-hydroxysteroid dehydrogenase (11-HSD 2) isozyme deficiency in the kidney. 11095013 2000
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.800 GeneticVariation disease BEFREE Mutations in the HSD11B2 gene cause a rare monogenic juvenile hypertensive syndrome called apparent mineralocorticoid excess (AME). 19909806 2010
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.800 GeneticVariation disease BEFREE Mutations in the HSD11K (HSD11B2) gene encoding this isozyme cause a genetic form of hypertension, the syndrome of apparent mineralocorticoid excess (AME). 8865170 1996
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.800 GeneticVariation disease UNIPROT We have analysed the gene encoding the kidney isozyme of 11 beta HSD and found mutations on both alleles in nine of 11 AME patients (eight of nine kindreds). 7670488 1995
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.800 GeneticVariation disease BEFREE Mutations generating inactive enzymes have been described in the HSD11B2 gene in the congenital syndrome of apparent mineralocorticoid excess (AME)--a low renin form of hypertension. 9247735 1997
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.800 GeneticVariation disease UNIPROT Two homozygous mutations in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. 12788846 2003
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.800 GeneticVariation disease BEFREE The HSD11B2 (HSD11K) gene encoding the kidney isozyme of 11beta-hydroxysteroid dehydrogenase is mutated in the syndrome of apparent mineralocorticoid excess, an autosomal recessive form of salt-sensitive hypertension. 11531933 2001
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.800 GeneticVariation disease UNIPROT Genetic analysis of the HSD11B2 gene from the AME patients revealed the homozygous deletion of six nucleotides in exon 2 with the resultant loss of amino acids Leu(114) and Glu(115), representing the first alteration found in the cofactor-binding domain. 11238516 2001