abnormal nephron morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the filtering unit of the kidney that includes the renal corpuscle, proximal and distal convoluted tubules, and loop of Henle (Mammalian Phenotype Ontology, MP_0003881)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003881
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Genes

332 gene mutations causing the abnormal nephron 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
ACP2 acid phosphatase 2, lysosomal
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)
ALMS1 Alstrom syndrome protein 1
AMPD2 adenosine monophosphate deaminase 2
ANK1 ankyrin 1, erythrocytic
ANO1 anoctamin 1, calcium activated chloride channel
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP3D1 adaptor-related protein complex 3, delta 1 subunit
APCS amyloid P component, serum
APOE apolipoprotein E
APRT adenine phosphoribosyltransferase
AQP11 aquaporin 11
AQP2 aquaporin 2 (collecting duct)
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
ARID5B AT rich interactive domain 5B (MRF1-like)
ARL3 ADP-ribosylation factor-like 3
ASH1L ash1 (absent, small, or homeotic)-like (Drosophila)
ASIP agouti signaling protein
ASL argininosuccinate lyase
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
ATP7A ATPase, Cu++ transporting, alpha polypeptide
B9D1 B9 protein domain 1
BAG6 BCL2-associated athanogene 6
BBS4 Bardet-Biedl syndrome 4
BCAM basal cell adhesion molecule (Lutheran blood group)
BCL2 B-cell CLL/lymphoma 2
BCL2L11 BCL2-like 11 (apoptosis facilitator)
BCR breakpoint cluster region
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BDKRB2 bradykinin receptor B2
BHLHE40 basic helix-loop-helix family, member e40
BICC1 BicC family RNA binding protein 1
BLOC1S5 biogenesis of lysosomal organelles complex-1, subunit 5, muted
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
CDH4 cadherin 4, type 1, R-cadherin (retinal)
CDH6 cadherin 6, type 2, K-cadherin (fetal kidney)
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
CLCN7 chloride channel, voltage-sensitive 7
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)
CR1L complement component (3b/4b) receptor 1-like
CRB3 crumbs family member 3
CRIM1 cysteine rich transmembrane BMP regulator 1 (chordin-like)
CTBS chitobiase, di-N-acetyl-
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
DACT3 dishevelled-binding antagonist of beta-catenin 3
DAPK1 death-associated protein kinase 1
DCHS1 dachsous cadherin-related 1
DCN decorin
DDR1 discoidin domain receptor tyrosine kinase 1
DKC1 dyskeratosis congenita 1, dyskerin
DLG1 discs, large homolog 1 (Drosophila)
DLG5 discs, large homolog 5 (Drosophila)
DNASE1 deoxyribonuclease I
DTX1 deltex 1, E3 ubiquitin ligase
E2F2 E2F transcription factor 2
ERCC1 excision repair cross-complementation group 1
ESR1 estrogen receptor 1
ESRRG estrogen-related receptor gamma
F2RL1 coagulation factor II (thrombin) receptor-like 1
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FAM20A family with sequence similarity 20, member A
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
FAT4 FAT atypical cadherin 4
FBLN1 fibulin 1
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
FGF23 fibroblast growth factor 23
FGF7 fibroblast growth factor 7
FGFR2 fibroblast growth factor receptor 2
FGFRL1 fibroblast growth factor receptor-like 1
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
GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
GDF11 growth differentiation factor 11
GDNF glial cell derived neurotrophic factor
GFRA1 GDNF family receptor alpha 1
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
GPC3 glypican 3
GPR4 G protein-coupled receptor 4
GPX7 glutathione peroxidase 7
GRHPR glyoxylate reductase/hydroxypyruvate reductase
GRM1 glutamate receptor, metabotropic 1
GSTK1 glutathione S-transferase kappa 1
GSTZ1 glutathione S-transferase zeta 1
GUSB glucuronidase, beta
HELLS helicase, lymphoid-specific
HEXB hexosaminidase B (beta polypeptide)
HMOX1 heme oxygenase 1
HP haptoglobin
HPRT1 hypoxanthine phosphoribosyltransferase 1
HPX hemopexin
HR hair growth associated
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
IFNG interferon, gamma
IFT172 intraflagellar transport 172
IFT88 intraflagellar transport 88
IGF2BP1 insulin-like growth factor 2 mRNA binding protein 1
IKZF3 IKAROS family zinc finger 3 (Aiolos)
IL12RB2 interleukin 12 receptor, beta 2
ILK integrin-linked kinase
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
KLF1 Kruppel-like factor 1 (erythroid)
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
LIN7C lin-7 homolog C (C. elegans)
LMX1B LIM homeobox transcription factor 1, beta
LRP2 low density lipoprotein receptor-related protein 2
LRRK2 leucine-rich repeat kinase 2
LTBP1 latent transforming growth factor beta binding protein 1
LYN LYN proto-oncogene, Src family tyrosine kinase
LYST lysosomal trafficking regulator
LZTS2 leucine zipper, putative tumor suppressor 2
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAN2A1 mannosidase, alpha, class 2A, member 1
MAN2B1 mannosidase, alpha, class 2B, member 1
MAN2C1 mannosidase, alpha, class 2C, member 1
MANBA mannosidase, beta A, lysosomal
MARK2 MAP/microtubule affinity-regulating kinase 2
MAS1 MAS1 proto-oncogene, G protein-coupled receptor
MDK midkine (neurite growth-promoting factor 2)
MEP1A meprin A, alpha (PABA peptide hydrolase)
MEP1B meprin A, beta
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
MUT methylmalonyl CoA mutase
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
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NEIL1 nei endonuclease VIII-like 1 (E. coli)
NEK1 NIMA-related kinase 1
NEK8 NIMA-related kinase 8
NEU1 sialidase 1 (lysosomal sialidase)
NF1 neurofibromin 1
NF2 neurofibromin 2 (merlin)
NFAT5 nuclear factor of activated T-cells 5, tonicity-responsive
NFE2L2 nuclear factor, erythroid 2-like 2
NFIA nuclear factor I/A
NOS1 nitric oxide synthase 1 (neuronal)
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
PCCA propionyl CoA carboxylase, alpha polypeptide
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
PIKFYVE phosphoinositide kinase, FYVE finger containing
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKD2 polycystic kidney disease 2 (autosomal dominant)
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PKN1 protein kinase N1
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PODXL podocalyxin-like
POLB polymerase (DNA directed), beta
POU3F3 POU class 3 homeobox 3
PPT1 palmitoyl-protein thioesterase 1
PRDX6 peroxiredoxin 6
PRKCD protein kinase C, delta
PRKDC protein kinase, DNA-activated, catalytic polypeptide
PSAP prosaposin
PTCD2 pentatricopeptide repeat domain 2
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
RAB8A RAB8A, member RAS oncogene family
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
RPGRIP1L RPGRIP1-like
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
SDC4 syndecan 4
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SGPL1 sphingosine-1-phosphate lyase 1
SGSH N-sulfoglucosamine sulfohydrolase
SIAE sialic acid acetylesterase
SIRT1 sirtuin 1
SIX2 SIX homeobox 2
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC19A3 solute carrier family 19 (thiamine transporter), member 3
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
SMAD3 SMAD family member 3
SOCS1 suppressor of cytokine signaling 1
SPP1 secreted phosphoprotein 1
SPTA1 spectrin, alpha, erythrocytic 1
SPTB spectrin, beta, erythrocytic
STAG1 stromal antigen 1
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced
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
TET2 tet methylcytosine dioxygenase 2
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TFCP2L1 transcription factor CP2-like 1
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TIE1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1
TIPARP TCDD-inducible poly(ADP-ribose) polymerase
TK1 thymidine kinase 1, soluble
TLR4 toll-like receptor 4
TLR8 toll-like receptor 8
TMEM67 transmembrane protein 67
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
TRPV5 transient receptor potential cation channel, subfamily V, member 5
TTC8 tetratricopeptide repeat domain 8
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
WNT9B wingless-type MMTV integration site family, member 9B
WT1 Wilms tumor 1
WWTR1 WW domain containing transcription regulator 1
XDH xanthine dehydrogenase
XYLT2 xylosyltransferase II
ZDHHC13 zinc finger, DHHC-type containing 13
ZFP36 ZFP36 ring finger protein