abnormal vertebral column morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord (Mammalian Phenotype Ontology, MP_0004703)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004703
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Genes

471 gene mutations causing the abnormal vertebral column morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACAN aggrecan
ACP2 acid phosphatase 2, lysosomal
ACP5 acid phosphatase 5, tartrate resistant
ACTA1 actin, alpha 1, skeletal muscle
ACVR1 activin A receptor, type I
ACVR2B activin A receptor, type IIB
ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6
AFF3 AF4/FMR2 family, member 3
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD11 ankyrin repeat domain 11
ANKRD13A ankyrin repeat domain 13A
ANP32B acidic (leucine-rich) nuclear phosphoprotein 32 family, member B
ANTXR1 anthrax toxin receptor 1
APAF1 apoptotic peptidase activating factor 1
ARHGAP1 Rho GTPase activating protein 1
ARID4A AT rich interactive domain 4A (RBP1-like)
ARID5B AT rich interactive domain 5B (MRF1-like)
ARL4D ADP-ribosylation factor-like 4D
ARL6IP5 ADP-ribosylation factor-like 6 interacting protein 5
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ARPC2 actin related protein 2/3 complex, subunit 2, 34kDa
ASXL1 additional sex combs like transcriptional regulator 1
ASXL2 additional sex combs like transcriptional regulator 2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
ATR ATR serine/threonine kinase
ATXN1 ataxin 1
ATXN1L ataxin 1-like
ATXN7 ataxin 7
AXIN1 axin 1
BAG3 BCL2-associated athanogene 3
BARX2 BARX homeobox 2
BMP4 bone morphogenetic protein 4
BMP5 bone morphogenetic protein 5
BMP7 bone morphogenetic protein 7
BMPER BMP binding endothelial regulator
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BRDT bromodomain, testis-specific
BTG2 BTG family, member 2
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
C21ORF62 chromosome 21 open reading frame 62
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CACNB1 calcium channel, voltage-dependent, beta 1 subunit
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CASR calcium-sensing receptor
CBFB core-binding factor, beta subunit
CBX2 chromobox homolog 2
CBX5 chromobox homolog 5
CCR10 chemokine (C-C motif) receptor 10
CDC14B cell division cycle 14B
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDO1 cysteine dioxygenase type 1
CDX1 caudal type homeobox 1
CDX2 caudal type homeobox 2
CDX4 caudal type homeobox 4
CENPJ centromere protein J
CHAT choline O-acetyltransferase
CHD2 chromodomain helicase DNA binding protein 2
CHRD chordin
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHST11 carbohydrate (chondroitin 4) sulfotransferase 11
CHUK conserved helix-loop-helix ubiquitous kinase
CISD2 CDGSH iron sulfur domain 2
CLCN1 chloride channel, voltage-sensitive 1
CLCN3 chloride channel, voltage-sensitive 3
CLCN5 chloride channel, voltage-sensitive 5
CLEC3B C-type lectin domain family 3, member B
CLP1 cleavage and polyadenylation factor I subunit 1
CLU clusterin
CLUAP1 clusterin associated protein 1
CNP 2',3'-cyclic nucleotide 3' phosphodiesterase
CNTNAP1 contactin associated protein 1
COA5 cytochrome c oxidase assembly factor 5
COL10A1 collagen, type X, alpha 1
COL12A1 collagen, type XII, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COL5A2 collagen, type V, alpha 2
COMMD3-BMI1 COMMD3-BMI1 readthrough
CREB3L1 cAMP responsive element binding protein 3-like 1
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CRTAP cartilage associated protein
CSRP2BP CSRP2 binding protein
CTGF connective tissue growth factor
CTSK cathepsin K
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1
DACT1 dishevelled-binding antagonist of beta-catenin 1
DCHS1 dachsous cadherin-related 1
DEAF1 DEAF1 transcription factor
DHRS3 dehydrogenase/reductase (SDR family) member 3
DLL1 delta-like 1 (Drosophila)
DLL3 delta-like 3 (Drosophila)
DMD dystrophin
DMRT2 doublesex and mab-3 related transcription factor 2
DNAAF3 dynein, axonemal, assembly factor 3
DNAH11 dynein, axonemal, heavy chain 11
DNM3OS DNM3 opposite strand/antisense RNA
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DSCAM Down syndrome cell adhesion molecule
DSCC1 DNA replication and sister chromatid cohesion 1
DUSP3 dual specificity phosphatase 3
DUSP4 dual specificity phosphatase 4
DVL2 dishevelled segment polarity protein 2
DYM dymeclin
E2F6 E2F transcription factor 6
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
EFNA1 ephrin-A1
EGR3 early growth response 3
EHD1 EH-domain containing 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EPHA2 EPH receptor A2
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ESCO1 establishment of sister chromatid cohesion N-acetyltransferase 1
ESR1 estrogen receptor 1
EVC Ellis van Creveld protein
EWSR1 EWS RNA-binding protein 1
EYA1 EYA transcriptional coactivator and phosphatase 1
FAM134C family with sequence similarity 134, member C
FAM20C family with sequence similarity 20, member C
FAT4 FAT atypical cadherin 4
FBN1 fibrillin 1
FBXO45 F-box protein 45
FGF18 fibroblast growth factor 18
FGF23 fibroblast growth factor 23
FGF3 fibroblast growth factor 3
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FGFRL1 fibroblast growth factor receptor-like 1
FKBP8 FK506 binding protein 8, 38kDa
FLNB filamin B, beta
FOSL2 FOS-like antigen 2
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FSHR follicle stimulating hormone receptor
FST follistatin
FSTL1 follistatin-like 1
FTO fat mass and obesity associated
FUOM fucose mutarotase
FZD9 frizzled class receptor 9
GAA glucosidase, alpha; acid
GAS1 growth arrest-specific 1
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
GDF11 growth differentiation factor 11
GGT1 gamma-glutamyltransferase 1
GLG1 golgi glycoprotein 1
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GLRB glycine receptor, beta
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPR87 G protein-coupled receptor 87
GRHL3 grainyhead-like 3 (Drosophila)
GRM1 glutamate receptor, metabotropic 1
GSC goosecoid homeobox
GTF2IRD1 GTF2I repeat domain containing 1
HAPLN1 hyaluronan and proteoglycan link protein 1
HAT1 histone acetyltransferase 1
HDAC2 histone deacetylase 2
HDAC4 histone deacetylase 4
HELLS helicase, lymphoid-specific
HES7 hes family bHLH transcription factor 7
HHAT hedgehog acyltransferase
HIP1 huntingtin interacting protein 1
HOXA10 homeobox A10
HOXA11 homeobox A11
HOXA3 homeobox A3
HOXA4 homeobox A4
HOXA5 homeobox A5
HOXA6 homeobox A6
HOXA9 homeobox A9
HOXB13 homeobox B13
HOXB2 homeobox B2
HOXB3 homeobox B3
HOXB4 homeobox B4
HOXB5 homeobox B5
HOXB6 homeobox B6
HOXB8 homeobox B8
HOXB9 homeobox B9
HOXC10 homeobox C10
HOXC13 homeobox C13
HOXC4 homeobox C4
HOXC6 homeobox C6
HOXC8 homeobox C8
HOXC9 homeobox C9
HOXD1 homeobox D1
HOXD10 homeobox D10
HOXD11 homeobox D11
HOXD13 homeobox D13
HOXD3 homeobox D3
HOXD4 homeobox D4
HOXD8 homeobox D8
HOXD9 homeobox D9
HS2ST1 heparan sulfate 2-O-sulfotransferase 1
HSPG2 heparan sulfate proteoglycan 2
HYAL2 hyaluronoglucosaminidase 2
HYDIN HYDIN, axonemal central pair apparatus protein
IDUA iduronidase, alpha-L-
IGF2 insulin-like growth factor 2
INHA inhibin, alpha
INS insulin
IRAK3 interleukin-1 receptor-associated kinase 3
IREB2 iron-responsive element binding protein 2
IRF6 interferon regulatory factor 6
ITGA7 integrin, alpha 7
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
ITGB1BP1 integrin beta 1 binding protein 1
ITPK1 inositol-tetrakisphosphate 1-kinase
JAG2 jagged 2
JMJD1C jumonji domain containing 1C
KAT2A K(lysine) acetyltransferase 2A
KAT6A K(lysine) acetyltransferase 6A
KDM4B lysine (K)-specific demethylase 4B
KDM7A lysine (K)-specific demethylase 7A
KIAA1217 KIAA1217
KIF1B kinesin family member 1B
KL klotho
KMT2A lysine (K)-specific methyltransferase 2A
KY kyphoscoliosis peptidase
LAMA2 laminin, alpha 2
LARGE like-glycosyltransferase
LASP1 LIM and SH3 protein 1
LBR lamin B receptor
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LMNA lamin A/C
LMNB1 lamin B1
LMO4 LIM domain only 4
LMX1A LIM homeobox transcription factor 1, alpha
LRIG1 leucine-rich repeats and immunoglobulin-like domains 1
LRP5 low density lipoprotein receptor-related protein 5
LRP6 low density lipoprotein receptor-related protein 6
LTBP3 latent transforming growth factor beta binding protein 3
MAP3K4 mitogen-activated protein kinase kinase kinase 4
MAPK6 mitogen-activated protein kinase 6
MBNL2 muscleblind-like splicing regulator 2
MBTD1 mbt domain containing 1
MDFI MyoD family inhibitor
MECOM MDS1 and EVI1 complex locus
MECP2 methyl CpG binding protein 2
MEOX1 mesenchyme homeobox 1
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MLLT3 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MSGN1 mesogenin 1
MTA1 metastasis associated 1
MTF2 metal response element binding transcription factor 2
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTM1 myotubularin 1
MUSK muscle, skeletal, receptor tyrosine kinase
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYF5 myogenic factor 5
MYF6 myogenic factor 6 (herculin)
MYH1 myosin, heavy chain 1, skeletal muscle, adult
MYOG myogenin (myogenic factor 4)
MYSM1 Myb-like, SWIRM and MPN domains 1
NACC1 nucleus accumbens associated 1, BEN and BTB (POZ) domain containing
NCDN neurochondrin
NDC1 NDC1 transmembrane nucleoporin
NDRG2 NDRG family member 2
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NEB nebulin
NELL1 NEL-like 1 (chicken)
NEU1 sialidase 1 (lysosomal sialidase)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NKX3-2 NK3 homeobox 2
NOG noggin
NOTCH1 notch 1
NOTCH3 notch 3
NOTO notochord homeobox
NOV nephroblastoma overexpressed
NPPC natriuretic peptide C
NPR2 natriuretic peptide receptor 2
NPR3 natriuretic peptide receptor 3
NR6A1 nuclear receptor subfamily 6, group A, member 1
NRARP NOTCH-regulated ankyrin repeat protein
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OAS1 2'-5'-oligoadenylate synthetase 1, 40/46kDa
PAPPA2 pappalysin 2
PARK2 parkin RBR E3 ubiquitin protein ligase
PARL presenilin associated, rhomboid-like
PAX1 paired box 1
PCGF2 polycomb group ring finger 2
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase
PCSK5 proprotein convertase subtilisin/kexin type 5
PDGFC platelet derived growth factor C
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDS5A PDS5 cohesin associated factor A
PDS5B PDS5 cohesin associated factor B
PEX3 peroxisomal biogenesis factor 3
PGAP1 post-GPI attachment to proteins 1
PHC1 polyhomeotic homolog 1 (Drosophila)
PHC2 polyhomeotic homolog 2 (Drosophila)
PHEX phosphate regulating endopeptidase homolog, X-linked
PHF20 PHD finger protein 20
PHOSPHO1 phosphatase, orphan 1
PIP4K2B phosphatidylinositol-5-phosphate 4-kinase, type II, beta
PITX2 paired-like homeodomain 2
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKDCC protein kinase domain containing, cytoplasmic
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLAGL1 pleiomorphic adenoma gene-like 1
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PLP1 proteolipid protein 1
PLXND1 plexin D1
PNN pinin, desmosome associated protein
POFUT1 protein O-fucosyltransferase 1
POLG polymerase (DNA directed), gamma
PORCN porcupine homolog (Drosophila)
PPIB peptidylprolyl isomerase B (cyclophilin B)
PPP5C protein phosphatase 5, catalytic subunit
PRKD3 protein kinase D3
PRKG2 protein kinase, cGMP-dependent, type II
PRRX1 paired related homeobox 1
PSAP prosaposin
PSEN1 presenilin 1
PSIP1 PC4 and SFRS1 interacting protein 1
PTCH1 patched 1
PTH parathyroid hormone
PTHLH parathyroid hormone-like hormone
PTK7 protein tyrosine kinase 7 (inactive)
PTPN9 protein tyrosine phosphatase, non-receptor type 9
PYY peptide YY
QRFPR pyroglutamylated RFamide peptide receptor
RAB23 RAB23, member RAS oncogene family
RAI1 retinoic acid induced 1
RARA retinoic acid receptor, alpha
RARB retinoic acid receptor, beta
RARG retinoic acid receptor, gamma
RB1 retinoblastoma 1
RC3H1 ring finger and CCCH-type domains 1
RING1 ring finger protein 1
RIPPLY1 ripply transcriptional repressor 1
RIPPLY2 ripply transcriptional repressor 2
RLBP1 retinaldehyde binding protein 1
RNF2 ring finger protein 2
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL24 ribosomal protein L24
RPL38 ribosomal protein L38
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RPS7 ribosomal protein S7
RTF1 Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)
RUNX3 runt-related transcription factor 3
RXRA retinoid X receptor, alpha
RYR1 ryanodine receptor 1 (skeletal)
SAMD4A sterile alpha motif domain containing 4A
SCMH1 sex comb on midleg homolog 1 (Drosophila)
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SEC23A Sec23 homolog A (S. cerevisiae)
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEPN1 selenoprotein N, 1
SETD1A SET domain containing 1A
SETMAR SET domain and mariner transposase fusion gene
SF3B1 splicing factor 3b, subunit 1, 155kDa
SFN stratifin
SFRP2 secreted frizzled-related protein 2
SGPL1 sphingosine-1-phosphate lyase 1
SGSH N-sulfoglucosamine sulfohydrolase
SH3GL2 SH3-domain GRB2-like 2
SH3PXD2B SH3 and PX domains 2B
SHH sonic hedgehog
SIK3 SIK family kinase 3
SIRT6 sirtuin 6
SIRT7 sirtuin 7
SIX1 SIX homeobox 1
SKI SKI proto-oncogene
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC25A21 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC30A5 solute carrier family 30 (zinc transporter), member 5
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC39A14 solute carrier family 39 (zinc transporter), member 14
SLC44A5 solute carrier family 44, member 5
SLX4 SLX4 structure-specific endonuclease subunit
SMAD3 SMAD family member 3
SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SMN1 survival of motor neuron 1, telomeric
SMS spermine synthase
SMURF2 SMAD specific E3 ubiquitin protein ligase 2
SOX11 SRY (sex determining region Y)-box 11
SOX5 SRY (sex determining region Y)-box 5
SP3 Sp3 transcription factor
SP7 Sp7 transcription factor
SP8 Sp8 transcription factor
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SPNS2 spinster homolog 2 (Drosophila)
SQSTM1 sequestosome 1
SSBP3 single stranded DNA binding protein 3
STAG1 stromal antigen 1
STARD5 StAR-related lipid transfer (START) domain containing 5
SULF1 sulfatase 1
SULF2 sulfatase 2
SUMF1 sulfatase modifying factor 1
SUPV3L1 suppressor of var1, 3-like 1 (S. cerevisiae)
SUV420H1 suppressor of variegation 4-20 homolog 1 (Drosophila)
SUZ12 SUZ12 polycomb repressive complex 2 subunit
SYNE1 spectrin repeat containing, nuclear envelope 1
SYTL1 synaptotagmin-like 1
T T, brachyury homolog (mouse)
TACC3 transforming, acidic coiled-coil containing protein 3
TAPT1 transmembrane anterior posterior transformation 1
TASP1 taspase, threonine aspartase, 1
TBX1 T-box 1
TBX15 T-box 15
TBX18 T-box 18
TBX6 T-box 6
TCF15 transcription factor 15 (basic helix-loop-helix)
TENM4 teneurin transmembrane protein 4
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
THBS1 thrombospondin 1
THBS2 thrombospondin 2
TIMM23 translocase of inner mitochondrial membrane 23 homolog (yeast)
TM9SF4 transmembrane 9 superfamily protein member 4
TMEM67 transmembrane protein 67
TMEM8C transmembrane protein 8C
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TOM1L2 target of myb1-like 2 (chicken)
TOP2B topoisomerase (DNA) II beta 180kDa
TP53 tumor protein p53
TP63 tumor protein p63
TRAF4 TNF receptor-associated factor 4
TRAFD1 TRAF-type zinc finger domain containing 1
TRPM6 transient receptor potential cation channel, subfamily M, member 6
TRPS1 trichorhinophalangeal syndrome I
TSHZ1 teashirt zinc finger homeobox 1
TTC21B tetratricopeptide repeat domain 21B
TTN titin
TULP3 tubby like protein 3
TWSG1 twisted gastrulation BMP signaling modulator 1
UBA2 ubiquitin-like modifier activating enzyme 2
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UNCX UNC homeobox
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
VANGL2 VANGL planar cell polarity protein 2
VCP valosin containing protein
VEGFA vascular endothelial growth factor A
WDR19 WD repeat domain 19
WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1
WNT3A wingless-type MMTV integration site family, member 3A
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
WNT9A wingless-type MMTV integration site family, member 9A
XBP1 X-box binding protein 1
XPNPEP1 X-prolyl aminopeptidase (aminopeptidase P) 1, soluble
ZBTB16 zinc finger and BTB domain containing 16
ZC3HC1 zinc finger, C3HC-type containing 1
ZDHHC13 zinc finger, DHHC-type containing 13
ZEB1 zinc finger E-box binding homeobox 1
ZIC1 Zic family member 1
ZIC2 Zic family member 2
ZIC3 Zic family member 3
ZMPSTE24 zinc metallopeptidase STE24