alkalosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Depletion of acid or accumulation base in the body fluids. (Human Phenotype Ontology, HP_0001948)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001948
Similar Terms
Downloads & Tools

Genes

21 genes associated with the alkalosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AIP aryl hydrocarbon receptor interacting protein
ASL argininosuccinate lyase
ASS1 argininosuccinate synthase 1
BSND barttin CLCNK-type chloride channel accessory beta subunit
CA5A carbonic anhydrase VA, mitochondrial
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CLCNKA chloride channel, voltage-sensitive Ka
CLCNKB chloride channel, voltage-sensitive Kb
CPS1 carbamoyl-phosphate synthase 1, mitochondrial
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
OTC ornithine carbamoyltransferase
SARS2 seryl-tRNA synthetase 2, mitochondrial
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
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC26A3 solute carrier family 26 (anion exchanger), member 3