Apparent Mineralocorticoid Excess Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism. (Orphanet Rare Disease Ontology, Orphanet_320)
External Link https://www.disgenet.org/browser/0/1/0/C3887949
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Genes

20 genes associated with the disease Apparent Mineralocorticoid Excess in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AKT1 v-akt murine thymoma viral oncogene homolog 1
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
HMGA2 high mobility group AT-hook 2
HRAS Harvey rat sarcoma viral oncogene homolog
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
KNSTRN kinetochore-localized astrin/SPAG5 binding protein
MYB v-myb avian myeloblastosis viral oncogene homolog
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NR3C2 nuclear receptor subfamily 3, group C, member 2
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PLAG1 pleiomorphic adenoma gene 1
POMC proopiomelanocortin
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
REN renin
TP53 tumor protein p53
VEGFA vascular endothelial growth factor A
WNK1 WNK lysine deficient protein kinase 1
WNK4 WNK lysine deficient protein kinase 4