decreased urine osmolality Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description reduction in the amount of ions in the urine compared to the normal state (Mammalian Phenotype Ontology, MP_0002988)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002988
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Genes

48 gene mutations causing the decreased urine osmolality phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
ADCY6 adenylate cyclase 6
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase)
APLNR apelin receptor
AQP1 aquaporin 1 (Colton blood group)
AQP11 aquaporin 11
AQP2 aquaporin 2 (collecting duct)
AQP3 aquaporin 3 (Gill blood group)
AQP4 aquaporin 4
ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
AVP arginine vasopressin
AVPR2 arginine vasopressin receptor 2
BSND barttin CLCNK-type chloride channel accessory beta subunit
CD63 CD63 molecule
CLCNKB chloride channel, voltage-sensitive Kb
CLDN2 claudin 2
CLN3 ceroid-lipofuscinosis, neuronal 3
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
GNAS GNAS complex locus
IFT88 intraflagellar transport 88
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
LIN7C lin-7 homolog C (C. elegans)
MPV17 MpV17 mitochondrial inner membrane protein
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NPR3 natriuretic peptide receptor 3
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
PTGER1 prostaglandin E receptor 1 (subtype EP1), 42kDa
REN renin
SCARB2 scavenger receptor class B, member 2
SCTR secretin receptor
SIRT1 sirtuin 1
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC14A1 solute carrier family 14 (urea transporter), member 1 (Kidd blood group)
SLC14A2 solute carrier family 14 (urea transporter), member 2
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC4A11 solute carrier family 4, sodium borate transporter, member 11
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TGFB1 transforming growth factor, beta 1
TMEM27 transmembrane protein 27
UMOD uromodulin
UOX urate oxidase, pseudogene
VAMP8 vesicle-associated membrane protein 8
WWTR1 WW domain containing transcription regulator 1