increased circulating creatinine level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description greater than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction (Mammalian Phenotype Ontology, MP_0005553)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005553
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Genes

61 gene mutations causing the increased circulating creatinine level 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)
AQP11 aquaporin 11
AR androgen receptor
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
BCL2 B-cell CLL/lymphoma 2
BDKRB2 bradykinin receptor B2
C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
CBX6 chromobox homolog 6
CCNI cyclin I
CD2AP CD2-associated protein
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
CRH corticotropin releasing hormone
CYS1 cystin 1
DCTN1 dynactin 1
EGFR epidermal growth factor receptor
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
GLIS2 GLIS family zinc finger 2
GPR22 G protein-coupled receptor 22
IKZF3 IKAROS family zinc finger 3 (Aiolos)
ITGA1 integrin, alpha 1
LARGE like-glycosyltransferase
LGMN legumain
LGR4 leucine-rich repeat containing G protein-coupled receptor 4
LMNB2 lamin B2
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MPV17 MpV17 mitochondrial inner membrane protein
NEK8 NIMA-related kinase 8
NOS2 nitric oxide synthase 2, inducible
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
PKD1 polycystic kidney disease 1 (autosomal dominant)
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)
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9
SLC38A10 solute carrier family 38, member 10
SLC47A1 solute carrier family 47 (multidrug and toxin extrusion), member 1
SMAD3 SMAD family member 3
SPP1 secreted phosphoprotein 1
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TGFB1 transforming growth factor, beta 1
TSTA3 tissue specific transplantation antigen P35B
UMOD uromodulin
UNC93B1 unc-93 homolog B1 (C. elegans)
UOX urate oxidase, pseudogene
UPK3A uroplakin 3A
VEGFA vascular endothelial growth factor A
VIM vimentin
XBP1 X-box binding protein 1
XDH xanthine dehydrogenase