abnormality of chloride homeostasis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of chloride homeostasis or concentration in the body. (Human Phenotype Ontology, HP_0011422)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011422
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Genes

14 genes associated with the abnormality of chloride homeostasis 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
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CLCNKA chloride channel, voltage-sensitive Ka
CLCNKB chloride channel, voltage-sensitive Kb
CUL3 cullin 3
FUCA1 fucosidase, alpha-L- 1, tissue
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KLHL3 kelch-like family member 3
SCNN1A sodium channel, non voltage gated 1 alpha subunit
SCNN1B sodium channel, non voltage gated 1 beta subunit
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC26A3 solute carrier family 26 (anion exchanger), member 3
WNK1 WNK lysine deficient protein kinase 1
WNK4 WNK lysine deficient protein kinase 4