abnormal thoracic 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 thirteen bony segments of the spine located anterior to the lumbar vertebrae and posterior to the cervical vertebrae (Mammalian Phenotype Ontology, MP_0003047)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003047
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Genes

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

Symbol Name
ACVR2B activin A receptor, type IIB
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ASXL2 additional sex combs like transcriptional regulator 2
AXIN1 axin 1
BMP4 bone morphogenetic protein 4
BMP5 bone morphogenetic protein 5
BMPER BMP binding endothelial regulator
BTG2 BTG family, member 2
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CDX1 caudal type homeobox 1
CDX2 caudal type homeobox 2
CDX4 caudal type homeobox 4
CHRD chordin
COMMD3-BMI1 COMMD3-BMI1 readthrough
DCHS1 dachsous cadherin-related 1
DLL3 delta-like 3 (Drosophila)
DMRT2 doublesex and mab-3 related transcription factor 2
DNM3OS DNM3 opposite strand/antisense RNA
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DSCC1 DNA replication and sister chromatid cohesion 1
DVL2 dishevelled segment polarity protein 2
E2F6 E2F transcription factor 6
FAT4 FAT atypical cadherin 4
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
FSHR follicle stimulating hormone receptor
GDF11 growth differentiation factor 11
HELLS helicase, lymphoid-specific
HOXA10 homeobox A10
HOXA11 homeobox A11
HOXA6 homeobox A6
HOXB5 homeobox B5
HOXB6 homeobox B6
HOXB8 homeobox B8
HOXC10 homeobox C10
HOXC4 homeobox C4
HOXC6 homeobox C6
HOXC8 homeobox C8
HOXC9 homeobox C9
HOXD8 homeobox D8
KAT2A K(lysine) acetyltransferase 2A
KAT6A K(lysine) acetyltransferase 6A
KDM7A lysine (K)-specific demethylase 7A
KMT2A lysine (K)-specific methyltransferase 2A
KY kyphoscoliosis peptidase
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LMNB1 lamin B1
LTBP3 latent transforming growth factor beta binding protein 3
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MLLT3 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3
MTF2 metal response element binding transcription factor 2
MYF5 myogenic factor 5
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
NPR3 natriuretic peptide receptor 3
NRARP NOTCH-regulated ankyrin repeat protein
OAS1 2'-5'-oligoadenylate synthetase 1, 40/46kDa
PAX1 paired box 1
PCGF2 polycomb group ring finger 2
PCSK5 proprotein convertase subtilisin/kexin type 5
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PGAP1 post-GPI attachment to proteins 1
PHC2 polyhomeotic homolog 2 (Drosophila)
PPP5C protein phosphatase 5, catalytic subunit
PRRX1 paired related homeobox 1
PSIP1 PC4 and SFRS1 interacting protein 1
PTK7 protein tyrosine kinase 7 (inactive)
RAI1 retinoic acid induced 1
RARA retinoic acid receptor, alpha
RARG retinoic acid receptor, gamma
RNF2 ring finger protein 2
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL38 ribosomal protein L38
SF3B1 splicing factor 3b, subunit 1, 155kDa
SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
SUMF1 sulfatase modifying factor 1
SUZ12 SUZ12 polycomb repressive complex 2 subunit
T T, brachyury homolog (mouse)
TAPT1 transmembrane anterior posterior transformation 1
TASP1 taspase, threonine aspartase, 1
TBX15 T-box 15
TBX18 T-box 18
TBX6 T-box 6
TERT telomerase reverse transcriptase
TSHZ1 teashirt zinc finger homeobox 1
TWSG1 twisted gastrulation BMP signaling modulator 1
WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1
WNT3A wingless-type MMTV integration site family, member 3A
ZBTB16 zinc finger and BTB domain containing 16
ZC3HC1 zinc finger, C3HC-type containing 1
ZMPSTE24 zinc metallopeptidase STE24