abnormal renal corpuscle morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the structure containing the glomerular capsule and the glomerulus that serves as the initial blood-filtering component of a nephron (Mammalian Phenotype Ontology, MP_0002827)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002827
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Genes

235 gene mutations causing the abnormal renal corpuscle morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ACE angiotensin I converting enzyme
ACTN4 actinin, alpha 4
ADIPOQ adiponectin, C1Q and collagen domain containing
ADM adrenomedullin
AGA aspartylglucosaminidase
AGER advanced glycosylation end product-specific receptor
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AMPD2 adenosine monophosphate deaminase 2
ANK1 ankyrin 1, erythrocytic
APCS amyloid P component, serum
APOE apolipoprotein E
APRT adenine phosphoribosyltransferase
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
ARID5B AT rich interactive domain 5B (MRF1-like)
ASH1L ash1 (absent, small, or homeotic)-like (Drosophila)
ASIP agouti signaling protein
ASL argininosuccinate lyase
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BAG6 BCL2-associated athanogene 6
BCAM basal cell adhesion molecule (Lutheran blood group)
BCL2 B-cell CLL/lymphoma 2
BCL2L11 BCL2-like 11 (apoptosis facilitator)
BCR breakpoint cluster region
BDKRB2 bradykinin receptor B2
BHLHE40 basic helix-loop-helix family, member e40
BICC1 BicC family RNA binding protein 1
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
C1QA complement component 1, q subcomponent, A chain
C3 complement component 3
C4A complement component 4A (Rodgers blood group)
CCNI cyclin I
CCR1 chemokine (C-C motif) receptor 1
CCR2 chemokine (C-C motif) receptor 2
CD151 CD151 molecule (Raph blood group)
CD1D CD1d molecule
CD2AP CD2-associated protein
CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group)
CD72 CD72 molecule
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CFH complement factor H
CFI complement factor I
CHD2 chromodomain helicase DNA binding protein 2
CLU clusterin
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
COMT catechol-O-methyltransferase
CORO1A coronin, actin binding protein, 1A
CPB2 carboxypeptidase B2 (plasma)
CRIM1 cysteine rich transmembrane BMP regulator 1 (chordin-like)
DCN decorin
DDR1 discoidin domain receptor tyrosine kinase 1
DKC1 dyskeratosis congenita 1, dyskerin
DLG1 discs, large homolog 1 (Drosophila)
DNASE1 deoxyribonuclease I
DTX1 deltex 1, E3 ubiquitin ligase
E2F2 E2F transcription factor 2
ESR1 estrogen receptor 1
ESRRG estrogen-related receptor gamma
F2RL1 coagulation factor II (thrombin) receptor-like 1
FAM20C family with sequence similarity 20, member C
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FAT1 FAT atypical cadherin 1
FBLN1 fibulin 1
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
FGF23 fibroblast growth factor 23
FGFR2 fibroblast growth factor receptor 2
FOXC2 forkhead box C2
FOXD1 forkhead box D1
FRAS1 Fraser extracellular matrix complex subunit 1
G6PC glucose-6-phosphatase, catalytic subunit
GADD45A growth arrest and DNA-damage-inducible, alpha
GADD45B growth arrest and DNA-damage-inducible, beta
GAS6 growth arrest-specific 6
GDNF glial cell derived neurotrophic factor
GLB1 galactosidase, beta 1
GLIS2 GLIS family zinc finger 2
GLIS3 GLIS family zinc finger 3
GNB1L guanine nucleotide binding protein (G protein), beta polypeptide 1-like
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GOLM1 golgi membrane protein 1
GPR4 G protein-coupled receptor 4
GPX7 glutathione peroxidase 7
GRM1 glutamate receptor, metabotropic 1
GSTK1 glutathione S-transferase kappa 1
GUSB glucuronidase, beta
HMOX1 heme oxygenase 1
HP haptoglobin
HPRT1 hypoxanthine phosphoribosyltransferase 1
HR hair growth associated
IFNG interferon, gamma
IFT172 intraflagellar transport 172
IGF2BP1 insulin-like growth factor 2 mRNA binding protein 1
IKZF3 IKAROS family zinc finger 3 (Aiolos)
IL12RB2 interleukin 12 receptor, beta 2
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INS insulin
INVS inversin
ITGA1 integrin, alpha 1
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
JAK1 Janus kinase 1
KIRREL kin of IRRE like (Drosophila)
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
LAMA5 laminin, alpha 5
LAMB2 laminin, beta 2 (laminin S)
LAMC1 laminin, gamma 1 (formerly LAMB2)
LAT linker for activation of T cells
LCAT lecithin-cholesterol acyltransferase
LEP leptin
LEPR leptin receptor
LGMN legumain
LGR4 leucine-rich repeat containing G protein-coupled receptor 4
LIMK2 LIM domain kinase 2
LMX1B LIM homeobox transcription factor 1, beta
LYN LYN proto-oncogene, Src family tyrosine kinase
LZTS2 leucine zipper, putative tumor suppressor 2
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAN2A1 mannosidase, alpha, class 2A, member 1
MAN2C1 mannosidase, alpha, class 2C, member 1
MARK2 MAP/microtubule affinity-regulating kinase 2
MAS1 MAS1 proto-oncogene, G protein-coupled receptor
MET MET proto-oncogene, receptor tyrosine kinase
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGAT5 mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase
MGP matrix Gla protein
MIR192 microRNA 192
MKS1 Meckel syndrome, type 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MPV17 MpV17 mitochondrial inner membrane protein
MTA2 metastasis associated 1 family, member 2
MTSS1 metastasis suppressor 1
MTUS1 microtubule associated tumor suppressor 1
MXI1 MAX interactor 1, dimerization protein
MYH9 myosin, heavy chain 9, non-muscle
MYO1E myosin IE
NAGLU N-acetylglucosaminidase, alpha
NCKAP1L NCK-associated protein 1-like
NF1 neurofibromin 1
NFE2L2 nuclear factor, erythroid 2-like 2
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH2 notch 2
NPHP3 nephronophthisis 3 (adolescent)
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
NR3C2 nuclear receptor subfamily 3, group C, member 2
PAX2 paired box 2
PBX1 pre-B-cell leukemia homeobox 1
PDCD1 programmed cell death 1
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDS5A PDS5 cohesin associated factor A
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
PEX13 peroxisomal biogenesis factor 13
PGAP3 post-GPI attachment to proteins 3
PGM3 phosphoglucomutase 3
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
PKD2 polycystic kidney disease 2 (autosomal dominant)
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PKN1 protein kinase N1
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PODXL podocalyxin-like
POLB polymerase (DNA directed), beta
PPT1 palmitoyl-protein thioesterase 1
PRDX6 peroxiredoxin 6
PRKCD protein kinase C, delta
PRKDC protein kinase, DNA-activated, catalytic polypeptide
PTGIS prostaglandin I2 (prostacyclin) synthase
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPRC protein tyrosine phosphatase, receptor type, C
PTPRO protein tyrosine phosphatase, receptor type, O
RASGRP1 RAS guanyl releasing protein 1 (calcium and DAG-regulated)
RASSF5 Ras association (RalGDS/AF-6) domain family member 5
RC3H1 ring finger and CCCH-type domains 1
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
REN renin
RET ret proto-oncogene
RPL22 ribosomal protein L22
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
SALL1 spalt-like transcription factor 1
SCARF1 scavenger receptor class F, member 1
SCGB1A1 secretoglobin, family 1A, member 1 (uteroglobin)
SCTR secretin receptor
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SGPL1 sphingosine-1-phosphate lyase 1
SIAE sialic acid acetylesterase
SIRT1 sirtuin 1
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SMAD3 SMAD family member 3
SOCS1 suppressor of cytokine signaling 1
SPTA1 spectrin, alpha, erythrocytic 1
SPTB spectrin, beta, erythrocytic
STAG1 stromal antigen 1
SUCO SUN domain containing ossification factor
SYK spleen tyrosine kinase
TAL1 T-cell acute lymphocytic leukemia 1
TANK TRAF family member-associated NFKB activator
TCF21 transcription factor 21
TIE1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1
TIPARP TCDD-inducible poly(ADP-ribose) polymerase
TK1 thymidine kinase 1, soluble
TLR8 toll-like receptor 8
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNIP1 TNFAIP3 interacting protein 1
TNS1 tensin 1
TNS2 tensin 2
TOP3B topoisomerase (DNA) III beta
TRAF3IP2 TRAF3 interacting protein 2
TREX1 three prime repair exonuclease 1
TROVE2 TROVE domain family, member 2
TRPS1 trichorhinophalangeal syndrome I
TRPV1 transient receptor potential cation channel, subfamily V, member 1
TUSC2 tumor suppressor candidate 2
UMOD uromodulin
UNC93B1 unc-93 homolog B1 (C. elegans)
UOX urate oxidase, pseudogene
UROS uroporphyrinogen III synthase
VEGFA vascular endothelial growth factor A
WAS Wiskott-Aldrich syndrome
WNT11 wingless-type MMTV integration site family, member 11
WNT4 wingless-type MMTV integration site family, member 4
WT1 Wilms tumor 1
WWTR1 WW domain containing transcription regulator 1
XDH xanthine dehydrogenase
ZDHHC13 zinc finger, DHHC-type containing 13
ZFP36 ZFP36 ring finger protein