abnormality of monovalent inorganic cation homeostasis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of monovalent inorganic cation homeostasis. (Human Phenotype Ontology, HP_0010930)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010930
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Genes

47 genes associated with the abnormality of monovalent inorganic cation homeostasis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AIP aryl hydrocarbon receptor interacting protein
AQP2 aquaporin 2 (collecting duct)
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
AVPR2 arginine vasopressin receptor 2
BMPR1A bone morphogenetic protein receptor, type IA
BSND barttin CLCNK-type chloride channel accessory beta subunit
CA12 carbonic anhydrase XII
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CASR calcium-sensing receptor
CLCNKA chloride channel, voltage-sensitive Ka
CLCNKB chloride channel, voltage-sensitive Kb
COL3A1 collagen, type III, alpha 1
CPOX coproporphyrinogen oxidase
CTNS cystinosin, lysosomal cystine transporter
CUL3 cullin 3
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
DSG1 desmoglein 1
FGFR1 fibroblast growth factor receptor 1
HMBS hydroxymethylbilane synthase
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
INVS inversin
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNJ5 potassium channel, inwardly rectifying subfamily J, member 5
KLHL3 kelch-like family member 3
LPIN1 lipin 1
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)
RYR1 ryanodine receptor 1 (skeletal)
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
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
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SMAD4 SMAD family member 4
STOM stomatin
WNK1 WNK lysine deficient protein kinase 1
WNK4 WNK lysine deficient protein kinase 4