vertebral fusion Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A developmental defect leading to the union of two adjacent vertebrae. (Human Phenotype Ontology, HP_0002948)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004609
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Genes

94 gene mutations causing the vertebral fusion phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACVR1 activin A receptor, type I
ANKRD13A ankyrin repeat domain 13A
ARID4A AT rich interactive domain 4A (RBP1-like)
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
AXIN1 axin 1
BAG3 BCL2-associated athanogene 3
BMP4 bone morphogenetic protein 4
BMP7 bone morphogenetic protein 7
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CDX1 caudal type homeobox 1
CENPJ centromere protein J
CHUK conserved helix-loop-helix ubiquitous kinase
CLU clusterin
CSRP2BP CSRP2 binding protein
DEAF1 DEAF1 transcription factor
DHRS3 dehydrogenase/reductase (SDR family) member 3
DLL3 delta-like 3 (Drosophila)
DMRT2 doublesex and mab-3 related transcription factor 2
DNM3OS DNM3 opposite strand/antisense RNA
DSCC1 DNA replication and sister chromatid cohesion 1
EHD1 EH-domain containing 1
EYA1 EYA transcriptional coactivator and phosphatase 1
FGF3 fibroblast growth factor 3
FGF9 fibroblast growth factor 9
FGFR2 fibroblast growth factor receptor 2
FKBP8 FK506 binding protein 8, 38kDa
FLNB filamin B, beta
GLI3 GLI family zinc finger 3
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
HES7 hes family bHLH transcription factor 7
HOXB3 homeobox B3
HOXD1 homeobox D1
HOXD10 homeobox D10
HOXD13 homeobox D13
HOXD3 homeobox D3
HOXD9 homeobox D9
HS2ST1 heparan sulfate 2-O-sulfotransferase 1
HYAL2 hyaluronoglucosaminidase 2
KDM4B lysine (K)-specific demethylase 4B
KMT2A lysine (K)-specific methyltransferase 2A
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LMO4 LIM domain only 4
LRIG1 leucine-rich repeats and immunoglobulin-like domains 1
LRP6 low density lipoprotein receptor-related protein 6
MBTD1 mbt domain containing 1
MEOX1 mesenchyme homeobox 1
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MLLT3 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3
MSGN1 mesogenin 1
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYF5 myogenic factor 5
MYSM1 Myb-like, SWIRM and MPN domains 1
NACC1 nucleus accumbens associated 1, BEN and BTB (POZ) domain containing
NDC1 NDC1 transmembrane nucleoporin
NOTO notochord homeobox
NRARP NOTCH-regulated ankyrin repeat protein
PAX1 paired box 1
PDS5A PDS5 cohesin associated factor A
PHC1 polyhomeotic homolog 1 (Drosophila)
PHC2 polyhomeotic homolog 2 (Drosophila)
PHF20 PHD finger protein 20
PLXND1 plexin D1
PPP5C protein phosphatase 5, catalytic subunit
PSEN1 presenilin 1
RAI1 retinoic acid induced 1
RARA retinoic acid receptor, alpha
RARB retinoic acid receptor, beta
RARG retinoic acid receptor, gamma
RLBP1 retinaldehyde binding protein 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL24 ribosomal protein L24
RPL38 ribosomal protein L38
RPS7 ribosomal protein S7
RTF1 Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)
SCMH1 sex comb on midleg homolog 1 (Drosophila)
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEPN1 selenoprotein N, 1
SHH sonic hedgehog
SIX1 SIX homeobox 1
SLX4 SLX4 structure-specific endonuclease subunit
SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
SULF2 sulfatase 2
T T, brachyury homolog (mouse)
TACC3 transforming, acidic coiled-coil containing protein 3
TBX1 T-box 1
TBX6 T-box 6
TSHZ1 teashirt zinc finger homeobox 1
UNCX UNC homeobox
VANGL2 VANGL planar cell polarity protein 2
WNT5A wingless-type MMTV integration site family, member 5A
XBP1 X-box binding protein 1
ZIC2 Zic family member 2