Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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0.550 | GeneticVariation | disease | BEFREE | 4/17 individuals (approximately 25% of cases) were found to suffer in fact from pseudo-Bartter syndrome resulting from congenital chloride diarrhea due to a novel homozygous mutation in the SLC26A3 gene, Pendred syndrome due to a known homozygous mutation in SLC26A4, Cystic Fibrosis (CF) due to a novel mutation in CFTR and apparent mineralocorticoid excess syndrome due to a novel homozygous loss of function mutation in HSD11B2 gene.1 case (5%) remained unsolved. | 30760291 | 2019 | ||||
|
0.550 | GeneticVariation | disease | BEFREE | Pathogenic variations in HSD11B2 gene triggers the apparent mineralocorticoid excess syndrome (AME). | 29617893 | 2018 | ||||
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0.550 | Biomarker | disease | CTD_human | Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. | 25526675 | 2015 | ||||
|
0.550 | GeneticVariation | disease | BEFREE | Nonfunctional mutations in HSD11B2, the gene encoding 11betaHSD2, cause the hypertensive syndrome of apparent mineralocorticoid excess (AME). | 20571110 | 2010 | ||||
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0.550 | GermlineCausalMutation | disease | ORPHANET | Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess. | 10523339 | 1999 | ||||
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0.550 | 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 | ||||
|
0.550 | GeneticVariation | disease | BEFREE | Mutations generating inactive enzymes have been described in the HSD11B2 gene in the congenital syndrome of apparent mineralocorticoid excess (AME), although proof of mutant protein synthesis was not provided. | 8793850 | 1996 |