enlarged kidney Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description larger than average size of the kidney (Mammalian Phenotype Ontology, MP_0003068)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003068
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Genes

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

Symbol Name
ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif, 1
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
ALMS1 Alstrom syndrome protein 1
AMER1 APC membrane recruitment protein 1
ANK1 ankyrin 1, erythrocytic
ANKRD26 ankyrin repeat domain 26
AQP11 aquaporin 11
ARL3 ADP-ribosylation factor-like 3
ATP12A ATPase, H+/K+ transporting, nongastric, alpha polypeptide
B9D1 B9 protein domain 1
BCAT2 branched chain amino-acid transaminase 2, mitochondrial
BCKDK branched chain ketoacid dehydrogenase kinase
BCL2 B-cell CLL/lymphoma 2
BICC1 BicC family RNA binding protein 1
BMP4 bone morphogenetic protein 4
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CAV1 caveolin 1, caveolae protein, 22kDa
CD151 CD151 molecule (Raph blood group)
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CXCR2 chemokine (C-X-C motif) receptor 2
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYS1 cystin 1
DFNB31 deafness, autosomal recessive 31
ERAP1 endoplasmic reticulum aminopeptidase 1
FABP2 fatty acid binding protein 2, intestinal
FADS2 fatty acid desaturase 2
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FAIM2 Fas apoptotic inhibitory molecule 2
FOXC1 forkhead box C1
G6PC glucose-6-phosphatase, catalytic subunit
GCDH glutaryl-CoA dehydrogenase
GDF15 growth differentiation factor 15
GDNF glial cell derived neurotrophic factor
GPC3 glypican 3
GSTK1 glutathione S-transferase kappa 1
GSTZ1 glutathione S-transferase zeta 1
HP haptoglobin
HPS1 Hermansky-Pudlak syndrome 1
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
IFT88 intraflagellar transport 88
IGF2R insulin-like growth factor 2 receptor
INVS inversin
KLF3 Kruppel-like factor 3 (basic)
LAMA5 laminin, alpha 5
LEP leptin
LHCGR luteinizing hormone/choriogonadotropin receptor
LRRK2 leucine-rich repeat kinase 2
LYST lysosomal trafficking regulator
MARVELD2 MARVEL domain containing 2
MGP matrix Gla protein
MKS1 Meckel syndrome, type 1
MPV17 MpV17 mitochondrial inner membrane protein
MYO1E myosin IE
NEK8 NIMA-related kinase 8
NPHP3 nephronophthisis 3 (adolescent)
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
OCA2 oculocutaneous albinism II
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKD2 polycystic kidney disease 2 (autosomal dominant)
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PLG plasminogen
PLXNB1 plexin B1
PREP prolyl endopeptidase
PTCD2 pentatricopeptide repeat domain 2
RDH16 retinol dehydrogenase 16 (all-trans)
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SPTB spectrin, beta, erythrocytic
SPTBN1 spectrin, beta, non-erythrocytic 1
TIMP3 TIMP metallopeptidase inhibitor 3
TNS1 tensin 1
UBE2E2 ubiquitin-conjugating enzyme E2E 2
WWTR1 WW domain containing transcription regulator 1
XYLT2 xylosyltransferase II
ZMPSTE24 zinc metallopeptidase STE24