abnormal lumbar vertebrae morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of any or all of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae (Mammalian Phenotype Ontology, MP_0003049)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003049
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Genes

90 gene mutations causing the abnormal lumbar vertebrae morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACVR2B activin A receptor, type IIB
ASXL1 additional sex combs like transcriptional regulator 1
ASXL2 additional sex combs like transcriptional regulator 2
AXIN1 axin 1
BMP7 bone morphogenetic protein 7
BRDT bromodomain, testis-specific
CBX5 chromobox homolog 5
CENPJ centromere protein J
COL2A1 collagen, type II, alpha 1
COMMD3-BMI1 COMMD3-BMI1 readthrough
DACT1 dishevelled-binding antagonist of beta-catenin 1
DCHS1 dachsous cadherin-related 1
DLL1 delta-like 1 (Drosophila)
DLL3 delta-like 3 (Drosophila)
DMRT2 doublesex and mab-3 related transcription factor 2
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DSCC1 DNA replication and sister chromatid cohesion 1
E2F6 E2F transcription factor 6
EFNA1 ephrin-A1
ESCO1 establishment of sister chromatid cohesion N-acetyltransferase 1
FAT4 FAT atypical cadherin 4
FBN1 fibrillin 1
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
FKBP8 FK506 binding protein 8, 38kDa
FST follistatin
GDF11 growth differentiation factor 11
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
HOXA10 homeobox A10
HOXA11 homeobox A11
HOXA5 homeobox A5
HOXA9 homeobox A9
HOXC10 homeobox C10
HOXC8 homeobox C8
HOXC9 homeobox C9
HOXD11 homeobox D11
HOXD8 homeobox D8
HOXD9 homeobox D9
IGF2 insulin-like growth factor 2
JMJD1C jumonji domain containing 1C
KAT2A K(lysine) acetyltransferase 2A
KMT2A lysine (K)-specific methyltransferase 2A
LASP1 LIM and SH3 protein 1
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LRP5 low density lipoprotein receptor-related protein 5
LRP6 low density lipoprotein receptor-related protein 6
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MTA1 metastasis associated 1
MTF2 metal response element binding transcription factor 2
NACC1 nucleus accumbens associated 1, BEN and BTB (POZ) domain containing
NDC1 NDC1 transmembrane nucleoporin
NDRG2 NDRG family member 2
NKX3-2 NK3 homeobox 2
NOTO notochord homeobox
NRARP NOTCH-regulated ankyrin repeat protein
PAX1 paired box 1
PCGF2 polycomb group ring finger 2
PGAP1 post-GPI attachment to proteins 1
PHC1 polyhomeotic homolog 1 (Drosophila)
PHC2 polyhomeotic homolog 2 (Drosophila)
PNN pinin, desmosome associated protein
PPP5C protein phosphatase 5, catalytic subunit
PSEN1 presenilin 1
PSIP1 PC4 and SFRS1 interacting protein 1
PYY peptide YY
QRFPR pyroglutamylated RFamide peptide receptor
RARA retinoic acid receptor, alpha
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL24 ribosomal protein L24
RPL38 ribosomal protein L38
RPS7 ribosomal protein S7
SF3B1 splicing factor 3b, subunit 1, 155kDa
SLC44A5 solute carrier family 44, member 5
SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
SOX11 SRY (sex determining region Y)-box 11
SP8 Sp8 transcription factor
SPNS2 spinster homolog 2 (Drosophila)
SUZ12 SUZ12 polycomb repressive complex 2 subunit
TACC3 transforming, acidic coiled-coil containing protein 3
TAPT1 transmembrane anterior posterior transformation 1
TASP1 taspase, threonine aspartase, 1
TBX18 T-box 18
TBX6 T-box 6
TERT telomerase reverse transcriptase
TM9SF4 transmembrane 9 superfamily protein member 4
UBA2 ubiquitin-like modifier activating enzyme 2
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
WNT3A wingless-type MMTV integration site family, member 3A
ZBTB16 zinc finger and BTB domain containing 16
ZMPSTE24 zinc metallopeptidase STE24