| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.100 | GeneticVariation | disease | BEFREE | Analysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature review. | 31302112 | 2019 | ||||
|
0.100 | GeneticVariation | disease | BEFREE | Two unrelated girls showed aldosterone synthase deficiency due to mutation of the CYP11B2 gene. | 27485500 | 2016 | ||||
|
0.100 | GeneticVariation | disease | BEFREE | Diagnosis of aldosterone synthase deficiency was confirmed by mutational analysis of the CYP11B2 gene which identified the patient as homozygous for two mutations: c.788T>A (p.Ile263Asn) and c.1157T>C (p.Val386Ala). | 27125267 | 2016 | ||||
|
0.100 | GeneticVariation | disease | BEFREE | Novel mutations in the CYP11B2 gene causing aldosterone synthase deficiency. | 26936515 | 2016 | ||||
|
0.100 | GeneticVariation | disease | BEFREE | Homozygosity for a mutation in the CYP11B2 gene in an infant with congenital corticosterone methyl oxidase deficiency type II. | 22931312 | 2012 | ||||
|
0.100 | GeneticVariation | disease | BEFREE | Here, we describe three unrelated Asian patients who have clinical and hormonal features compatible with aldosterone synthase deficiency and identify their CYP11B2 mutations.Patient 1 was a Thai female infant. | 22801770 | 2012 | ||||
|
0.100 | GeneticVariation | disease | BEFREE | Five novel mutations in CYP11B2 gene detected in patients with aldosterone synthase deficiency type I: Functional characterization and structural analyses. | 20494601 | 2010 | ||||
|
0.100 | GeneticVariation | disease | BEFREE | In a few cases with presumed aldosterone synthase deficiency no mutations in CYP11B2 gene have been identified. | 16733366 | 2006 | ||||
|
0.100 | GeneticVariation | disease | BEFREE | Mutations in CYP11B2 cause aldosterone synthase deficiency, an isolated defect of aldosterone biosynthesis. | 11344939 | 2001 | ||||
|
0.100 | GeneticVariation | disease | BEFREE | Mutations in CYP11B2 cause congenital hypoaldosteronism (aldosterone synthase deficiency) which is characterized by life-threatening salt loss, failure to thrive, hyponatraemia and hyperkalaemia in early infancy. | 10559665 | 1999 |