small kidney Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description reduced physical bulk one or both of the organs responsible for urine secretion (Mammalian Phenotype Ontology, MP_0002989)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002989
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Genes

149 gene mutations causing the small kidney phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA7 ATP-binding cassette, sub-family A (ABC1), member 7
ACE angiotensin I converting enzyme
ACTN4 actinin, alpha 4
ACVR2B activin A receptor, type IIB
ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif, 1
AGA aspartylglucosaminidase
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR2 angiotensin II receptor, type 2
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
APRT adenine phosphoribosyltransferase
AQP2 aquaporin 2 (collecting duct)
ARHGAP1 Rho GTPase activating protein 1
ARID5B AT rich interactive domain 5B (MRF1-like)
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ATMIN ATM interactor
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BAG6 BCL2-associated athanogene 6
BCL2 B-cell CLL/lymphoma 2
BMP4 bone morphogenetic protein 4
BMP7 bone morphogenetic protein 7
BMPER BMP binding endothelial regulator
C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
CD151 CD151 molecule (Raph blood group)
CD1D CD1d molecule
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A4 collagen, type IV, alpha 4
COL4A5 collagen, type IV, alpha 5
CRIM1 cysteine rich transmembrane BMP regulator 1 (chordin-like)
CXCL14 chemokine (C-X-C motif) ligand 14
CXCR2 chemokine (C-X-C motif) receptor 2
DCHS1 dachsous cadherin-related 1
DCN decorin
DEDD death effector domain containing
DKC1 dyskeratosis congenita 1, dyskerin
DLG1 discs, large homolog 1 (Drosophila)
DNAH5 dynein, axonemal, heavy chain 5
DNASE1L2 deoxyribonuclease I-like 2
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
EIF3M eukaryotic translation initiation factor 3, subunit M
EMX2 empty spiracles homeobox 2
ETV4 ets variant 4
EYA1 EYA transcriptional coactivator and phosphatase 1
FAT4 FAT atypical cadherin 4
FGF10 fibroblast growth factor 10
FGF7 fibroblast growth factor 7
FGFR2 fibroblast growth factor receptor 2
FOXC2 forkhead box C2
FOXD1 forkhead box D1
FOXD2 forkhead box D2
FRAS1 Fraser extracellular matrix complex subunit 1
FSTL1 follistatin-like 1
FZD4 frizzled class receptor 4
G0S2 G0/G1 switch 2
G6PC glucose-6-phosphatase, catalytic subunit
GATA2 GATA binding protein 2
GDF11 growth differentiation factor 11
GDNF glial cell derived neurotrophic factor
GFRA1 GDNF family receptor alpha 1
GHR growth hormone receptor
GLIS2 GLIS family zinc finger 2
GOLM1 golgi membrane protein 1
GPC3 glypican 3
GREM1 gremlin 1, DAN family BMP antagonist
GRHPR glyoxylate reductase/hydroxypyruvate reductase
GRIP1 glutamate receptor interacting protein 1
HELLS helicase, lymphoid-specific
HOXA13 homeobox A13
HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2
HSPA4L heat shock 70kDa protein 4-like
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
IGF2 insulin-like growth factor 2
IGF2BP1 insulin-like growth factor 2 mRNA binding protein 1
IGFBP2 insulin-like growth factor binding protein 2, 36kDa
ILK integrin-linked kinase
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
ITGA8 integrin, alpha 8
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KIF26B kinesin family member 26B
KISS1 KiSS-1 metastasis-suppressor
KISS1R KISS1 receptor
KL klotho
LAMA5 laminin, alpha 5
LGMN legumain
LGR4 leucine-rich repeat containing G protein-coupled receptor 4
LIN7C lin-7 homolog C (C. elegans)
LMX1B LIM homeobox transcription factor 1, beta
LRRK2 leucine-rich repeat kinase 2
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MEGF8 multiple EGF-like-domains 8
MGP matrix Gla protein
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MSTN myostatin
MXI1 MAX interactor 1, dimerization protein
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NFAT5 nuclear factor of activated T-cells 5, tonicity-responsive
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH2 notch 2
NPNT nephronectin
OVOL1 ovo-like zinc finger 1
PAX2 paired box 2
PBX1 pre-B-cell leukemia homeobox 1
PDGFB platelet-derived growth factor beta polypeptide
PDS5A PDS5 cohesin associated factor A
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
POR P450 (cytochrome) oxidoreductase
POU3F3 POU class 3 homeobox 3
PREP prolyl endopeptidase
PSAP prosaposin
PTGIS prostaglandin I2 (prostacyclin) synthase
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTK7 protein tyrosine kinase 7 (inactive)
RDH10 retinol dehydrogenase 10 (all-trans)
REN renin
RET ret proto-oncogene
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SGPL1 sphingosine-1-phosphate lyase 1
SIK3 SIK family kinase 3
SIX1 SIX homeobox 1
SIX2 SIX homeobox 2
SLC14A2 solute carrier family 14 (urea transporter), member 2
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLIT3 slit homolog 3 (Drosophila)
SMAD3 SMAD family member 3
SULF2 sulfatase 2
TCF21 transcription factor 21
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TFCP2L1 transcription factor CP2-like 1
TIPARP TCDD-inducible poly(ADP-ribose) polymerase
TKT transketolase
TNS2 tensin 2
TP53 tumor protein p53
TRPV5 transient receptor potential cation channel, subfamily V, member 5
TSC22D1 TSC22 domain family, member 1
UOX urate oxidase, pseudogene
VAMP8 vesicle-associated membrane protein 8
VEGFA vascular endothelial growth factor A
WNT11 wingless-type MMTV integration site family, member 11
WNT4 wingless-type MMTV integration site family, member 4
WNT9B wingless-type MMTV integration site family, member 9B
WT1 Wilms tumor 1
WWTR1 WW domain containing transcription regulator 1
XDH xanthine dehydrogenase