abnormal circulating creatinine level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An abnormal concentration of creatinine in the blood. (Human Phenotype Ontology, HP_0012100)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005328
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Genes

96 gene mutations causing the abnormal 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
ADORA3 adenosine A3 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
BSND barttin CLCNK-type chloride channel accessory beta subunit
C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
CBX6 chromobox homolog 6
CCNI cyclin I
CCR2 chemokine (C-C motif) receptor 2
CD2AP CD2-associated protein
CD44 CD44 molecule (Indian blood group)
CISD2 CDGSH iron sulfur domain 2
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
CTH cystathionine gamma-lyase
CXCR3 chemokine (C-X-C motif) receptor 3
CYS1 cystin 1
DCTN1 dynactin 1
DNASE1 deoxyribonuclease I
EGFR epidermal growth factor receptor
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
GAMT guanidinoacetate N-methyltransferase
GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
GLIS2 GLIS family zinc finger 2
GPR107 G protein-coupled receptor 107
GPR22 G protein-coupled receptor 22
IKZF3 IKAROS family zinc finger 3 (Aiolos)
IL10 interleukin 10
IL1R1 interleukin 1 receptor, type I
ITGA1 integrin, alpha 1
JAK1 Janus kinase 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
MARCH9 membrane-associated ring finger (C3HC4) 9
MEP1A meprin A, alpha (PABA peptide hydrolase)
MEP1B meprin A, beta
MPV17 MpV17 mitochondrial inner membrane protein
MYO10 myosin X
MYO7A myosin VIIA
NEK8 NIMA-related kinase 8
NOS2 nitric oxide synthase 2, inducible
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
PARP1 poly (ADP-ribose) polymerase 1
PHYKPL 5-phosphohydroxy-L-lysine phospho-lyase
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
PRKCZ protein kinase C, zeta
PRMT1 protein arginine methyltransferase 1
PTGIS prostaglandin I2 (prostacyclin) synthase
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
REN renin
RNASE10 ribonuclease, RNase A family, 10 (non-active)
RNF10 ring finger protein 10
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
SELK selenoprotein K
SETMAR SET domain and mariner transposase fusion gene
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9
SLC34A2 solute carrier family 34 (type II sodium/phosphate cotransporter), member 2
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
SLC4A5 solute carrier family 4 (sodium bicarbonate cotransporter), member 5
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SMAD3 SMAD family member 3
SPP1 secreted phosphoprotein 1
SYK spleen tyrosine kinase
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TGFB1 transforming growth factor, beta 1
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TSTA3 tissue specific transplantation antigen P35B
UMOD uromodulin
UNC93B1 unc-93 homolog B1 (C. elegans)
UOX urate oxidase, pseudogene
UPK3A uroplakin 3A
USP21 ubiquitin specific peptidase 21
USP38 ubiquitin specific peptidase 38
VEGFA vascular endothelial growth factor A
VIM vimentin
WDR83 WD repeat domain 83
WTAP Wilms tumor 1 associated protein
XBP1 X-box binding protein 1
XDH xanthine dehydrogenase