abnormal circulating mineralocorticoid level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description aberrant blood concentration of corticosteroids that influence water and electrolyte metabolism and balance (Mammalian Phenotype Ontology, MP_0003372)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003372
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Genes

31 gene mutations causing the abnormal circulating mineralocorticoid level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
BSND barttin CLCNK-type chloride channel accessory beta subunit
CLDN7 claudin 7
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
DKK3 dickkopf WNT signaling pathway inhibitor 3
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
KCNE3 potassium channel, voltage gated subfamily E regulatory beta subunit 3
KCNK3 potassium channel, two pore domain subfamily K, member 3
LOC102723475 putative uncharacterized protein LOC388820
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NPR1 natriuretic peptide receptor 1
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NR3C2 nuclear receptor subfamily 3, group C, member 2
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase
POMC proopiomelanocortin
REN renin
SCNN1B sodium channel, non voltage gated 1 beta subunit
SGK1 serum/glucocorticoid regulated kinase 1
SLC26A3 solute carrier family 26 (anion exchanger), member 3
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC4A5 solute carrier family 4 (sodium bicarbonate cotransporter), member 5
SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2
SLC9A3 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3
STAR steroidogenic acute regulatory protein
STK39 serine threonine kinase 39
TGFB1 transforming growth factor, beta 1
VAV2 vav 2 guanine nucleotide exchange factor
VAV3 vav 3 guanine nucleotide exchange factor
WNK4 WNK lysine deficient protein kinase 4