Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1585
Gene Symbol: CYP11B2
CYP11B2
0.070 GeneticVariation disease BEFREE Rare germline variants of CYP11B2 (encoding aldosterone synthase), CLCN2 (encoding voltage-gated chloride channel ClC-2), KCNJ5, CACNA1H (encoding a subunit of T-type voltage-gated calcium channel Ca<sub>V</sub>3.2), and CACNA1D have been reported in different subtypes of familial hyperaldosteronism. 31695023 2019
Entrez Id: 1585
Gene Symbol: CYP11B2
CYP11B2
0.070 GeneticVariation disease BEFREE A de novo unequal cross-over mutation between CYP11B1 and CYP11B2 genes causes familial hyperaldosteronism type I. 20634641 2011
Entrez Id: 1585
Gene Symbol: CYP11B2
CYP11B2
0.070 GeneticVariation disease BEFREE Familial hyperaldosteronism type II is a hereditary form of primary aldosteronism not attributable to the hybrid CYP11B1/CYP11B2 mutation that causes glucocorticoid remediable aldosteronism (or familial hyperaldosteronism type I). 18622235 2008
Entrez Id: 1585
Gene Symbol: CYP11B2
CYP11B2
0.070 GeneticVariation disease BEFREE The CYP11B1/CYP11B2 chimeric gene was found in a Japanese family with FH type II. 11453962 2001
Entrez Id: 1585
Gene Symbol: CYP11B2
CYP11B2
0.070 GeneticVariation disease BEFREE Familial hyperaldosteronism type II: description of a large kindred and exclusion of the aldosterone synthase (CYP11B2) gene. 9745430 1998
Entrez Id: 1585
Gene Symbol: CYP11B2
CYP11B2
0.070 Biomarker disease BEFREE This is consistent with the hybrid gene being more powerfully expressed than the wild-type aldosterone synthase genes in familial hyperaldosteronism type I. 9360524 1997
Entrez Id: 1585
Gene Symbol: CYP11B2
CYP11B2
0.070 GeneticVariation disease BEFREE Evidence for persistent dysfunction of wild-type aldosterone synthase gene in glucocorticoid-treated familial hyperaldosteronism type I. 9488230 1997