uremia Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009644
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Genes

138 gene mutations causing the uremia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ACE angiotensin I converting enzyme
ADORA1 adenosine A1 receptor
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
ANK1 ankyrin 1, erythrocytic
APRT adenine phosphoribosyltransferase
AQP11 aquaporin 11
AQP2 aquaporin 2 (collecting duct)
AR androgen receptor
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
ARID5B AT rich interactive domain 5B (MRF1-like)
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
BBS4 Bardet-Biedl syndrome 4
BCL2 B-cell CLL/lymphoma 2
BCL2L11 BCL2-like 11 (apoptosis facilitator)
BCR breakpoint cluster region
BDKRB2 bradykinin receptor B2
BICC1 BicC family RNA binding protein 1
C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
CAV1 caveolin 1, caveolae protein, 22kDa
CBX6 chromobox homolog 6
CCNI cyclin I
CCR1 chemokine (C-C motif) receptor 1
CD1D CD1d molecule
CD2AP CD2-associated protein
CLDN7 claudin 7
COL18A1 collagen, type XVIII, alpha 1
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A4 collagen, type IV, alpha 4
COL4A5 collagen, type IV, alpha 5
COX19 COX19 cytochrome c oxidase assembly factor
CR1L complement component (3b/4b) receptor 1-like
CRH corticotropin releasing hormone
CTH cystathionine gamma-lyase
CYS1 cystin 1
DCTN1 dynactin 1
DIXDC1 DIX domain containing 1
DLG5 discs, large homolog 5 (Drosophila)
DNASE1L2 deoxyribonuclease I-like 2
DUSP1 dual specificity phosphatase 1
EDN2 endothelin 2
EGFR epidermal growth factor receptor
ELMOD1 ELMO/CED-12 domain containing 1
EYA1 EYA transcriptional coactivator and phosphatase 1
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FAM134C family with sequence similarity 134, member C
FAS Fas cell surface death receptor
FGF23 fibroblast growth factor 23
GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
GLIS2 GLIS family zinc finger 2
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GPR22 G protein-coupled receptor 22
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HMOX1 heme oxygenase 1
HNRNPD heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)
HP1BP3 heterochromatin protein 1, binding protein 3
HSPA4L heat shock 70kDa protein 4-like
HTR3A 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic
HTR4 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled
IKZF3 IKAROS family zinc finger 3 (Aiolos)
INVS inversin
ITGA1 integrin, alpha 1
KISS1R KISS1 receptor
LAMA5 laminin, alpha 5
LARGE like-glycosyltransferase
LAT linker for activation of T cells
LEP leptin
LGMN legumain
LGR4 leucine-rich repeat containing G protein-coupled receptor 4
LIN7C lin-7 homolog C (C. elegans)
LMNB2 lamin B2
MACROD2 MACRO domain containing 2
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAPKBP1 mitogen-activated protein kinase binding protein 1
MECOM MDS1 and EVI1 complex locus
MPV17 MpV17 mitochondrial inner membrane protein
MYO1E myosin IE
MYO7A myosin VIIA
NEK1 NIMA-related kinase 1
NEK8 NIMA-related kinase 8
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NPHP3 nephronophthisis 3 (adolescent)
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
PILRA paired immunoglobin-like type 2 receptor alpha
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKD2 polycystic kidney disease 2 (autosomal dominant)
POU3F3 POU class 3 homeobox 3
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
PRMT1 protein arginine methyltransferase 1
PTGIS prostaglandin I2 (prostacyclin) synthase
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
REN renin
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
SCARF1 scavenger receptor class F, member 1
SDC4 syndecan 4
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SGPL1 sphingosine-1-phosphate lyase 1
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC14A1 solute carrier family 14 (urea transporter), member 1 (Kidd blood group)
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC26A3 solute carrier family 26 (anion exchanger), member 3
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9
SLC38A10 solute carrier family 38, member 10
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC47A1 solute carrier family 47 (multidrug and toxin extrusion), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SMAD3 SMAD family member 3
SOD2 superoxide dismutase 2, mitochondrial
SPP1 secreted phosphoprotein 1
SPTB spectrin, beta, erythrocytic
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TGFB1 transforming growth factor, beta 1
TIPARP TCDD-inducible poly(ADP-ribose) polymerase
TNS2 tensin 2
TSTA3 tissue specific transplantation antigen P35B
TXNIP thioredoxin interacting protein
UMOD uromodulin
UNC93B1 unc-93 homolog B1 (C. elegans)
UOX urate oxidase, pseudogene
UPK2 uroplakin 2
UPK3A uroplakin 3A
VANGL2 VANGL planar cell polarity protein 2
VEGFA vascular endothelial growth factor A
VIM vimentin
WWOX WW domain containing oxidoreductase
WWTR1 WW domain containing transcription regulator 1
XBP1 X-box binding protein 1
XDH xanthine dehydrogenase
XYLT2 xylosyltransferase II
ZBTB20 zinc finger and BTB domain containing 20
ZDHHC13 zinc finger, DHHC-type containing 13