renal salt wasting Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s). (Human Phenotype Ontology, HP_0000127)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000127
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Genes

16 genes associated with the renal salt wasting phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
BSND barttin CLCNK-type chloride channel accessory beta subunit
CLCNKA chloride channel, voltage-sensitive Ka
CLCNKB chloride channel, voltage-sensitive Kb
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
MUC1 mucin 1, cell surface associated
NR0B1 nuclear receptor subfamily 0, group B, member 1
SARS2 seryl-tRNA synthetase 2, mitochondrial
SCNN1A sodium channel, non voltage gated 1 alpha subunit
SCNN1B sodium channel, non voltage gated 1 beta subunit
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
STAR steroidogenic acute regulatory protein