abnormality of sodium homeostasis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormal concentration of sodium. (Human Phenotype Ontology, HP_0010931)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010931
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Genes

25 genes associated with the abnormality of sodium homeostasis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AQP2 aquaporin 2 (collecting duct)
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
AVPR2 arginine vasopressin receptor 2
BSND barttin CLCNK-type chloride channel accessory beta subunit
CA12 carbonic anhydrase XII
CLCNKA chloride channel, voltage-sensitive Ka
CLCNKB chloride channel, voltage-sensitive Kb
CPOX coproporphyrinogen oxidase
CTNS cystinosin, lysosomal cystine transporter
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
DSG1 desmoglein 1
FGFR1 fibroblast growth factor receptor 1
HMBS hydroxymethylbilane synthase
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR3C2 nuclear receptor subfamily 3, group C, member 2
OCRL oculocerebrorenal syndrome of Lowe
PRF1 perforin 1 (pore forming protein)
SARS2 seryl-tRNA synthetase 2, mitochondrial
SCN4A sodium channel, voltage gated, type IV alpha subunit
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
SLC26A3 solute carrier family 26 (anion exchanger), member 3
STOM stomatin