abnormal urine output Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Ab abnormal amount of urine production. (Human Phenotype Ontology, HP_0012590)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0012590
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Genes

25 genes associated with the abnormal urine output phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AQP2 aquaporin 2 (collecting duct)
AVPR2 arginine vasopressin receptor 2
BSND barttin CLCNK-type chloride channel accessory beta subunit
CASR calcium-sensing receptor
CLCNKA chloride channel, voltage-sensitive Ka
CLCNKB chloride channel, voltage-sensitive Kb
CLDN16 claudin 16
CTNS cystinosin, lysosomal cystine transporter
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
FAM20A family with sequence similarity 20, member A
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
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NPHP4 nephronophthisis 4
REN renin
SARS2 seryl-tRNA synthetase 2, mitochondrial
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2
TMEM67 transmembrane protein 67