abnormal cervical 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 seven bony segments of the spine located anterior to the thoracic vertebrae and caudal to the skull (Mammalian Phenotype Ontology, MP_0003048)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003048
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Genes

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

Symbol Name
ACVR1 activin A receptor, type I
BMP4 bone morphogenetic protein 4
BMP5 bone morphogenetic protein 5
BTG2 BTG family, member 2
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CBX2 chromobox homolog 2
CDX1 caudal type homeobox 1
CDX2 caudal type homeobox 2
CHRD chordin
CHUK conserved helix-loop-helix ubiquitous kinase
COL10A1 collagen, type X, alpha 1
COMMD3-BMI1 COMMD3-BMI1 readthrough
CTGF connective tissue growth factor
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1
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
E2F6 E2F transcription factor 6
EYA1 EYA transcriptional coactivator and phosphatase 1
FAM134C family with sequence similarity 134, member C
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
FLNB filamin B, beta
FOXC1 forkhead box C1
FSTL1 follistatin-like 1
GDF11 growth differentiation factor 11
GSC goosecoid homeobox
HOXA3 homeobox A3
HOXA4 homeobox A4
HOXA5 homeobox A5
HOXA6 homeobox A6
HOXB2 homeobox B2
HOXB3 homeobox B3
HOXB4 homeobox B4
HOXB5 homeobox B5
HOXB6 homeobox B6
HOXB8 homeobox B8
HOXC8 homeobox C8
HOXD1 homeobox D1
HOXD3 homeobox D3
HOXD4 homeobox D4
HS2ST1 heparan sulfate 2-O-sulfotransferase 1
HYAL2 hyaluronoglucosaminidase 2
IDUA iduronidase, alpha-L-
KAT6A K(lysine) acetyltransferase 6A
KMT2A lysine (K)-specific methyltransferase 2A
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LMO4 LIM domain only 4
LTBP3 latent transforming growth factor beta binding protein 3
MBTD1 mbt domain containing 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
MTF2 metal response element binding transcription factor 2
MYF5 myogenic factor 5
MYF6 myogenic factor 6 (herculin)
NDC1 NDC1 transmembrane nucleoporin
NELL1 NEL-like 1 (chicken)
NKX3-2 NK3 homeobox 2
NPR2 natriuretic peptide receptor 2
PAX1 paired box 1
PCGF2 polycomb group ring finger 2
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDS5A PDS5 cohesin associated factor A
PGAP1 post-GPI attachment to proteins 1
PHC1 polyhomeotic homolog 1 (Drosophila)
PHC2 polyhomeotic homolog 2 (Drosophila)
PKDCC protein kinase domain containing, cytoplasmic
PPP5C protein phosphatase 5, catalytic subunit
PSEN1 presenilin 1
PSIP1 PC4 and SFRS1 interacting protein 1
RAI1 retinoic acid induced 1
RARA retinoic acid receptor, alpha
RARB retinoic acid receptor, beta
RARG retinoic acid receptor, gamma
RING1 ring finger protein 1
RIPPLY1 ripply transcriptional repressor 1
RNF2 ring finger protein 2
RPL38 ribosomal protein L38
RPS7 ribosomal protein S7
SCMH1 sex comb on midleg homolog 1 (Drosophila)
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SF3B1 splicing factor 3b, subunit 1, 155kDa
SHH sonic hedgehog
SIX1 SIX homeobox 1
SKI SKI proto-oncogene
SOX5 SRY (sex determining region Y)-box 5
SP3 Sp3 transcription factor
SUZ12 SUZ12 polycomb repressive complex 2 subunit
T T, brachyury homolog (mouse)
TASP1 taspase, threonine aspartase, 1
TBX1 T-box 1
TBX15 T-box 15
TBX6 T-box 6
TENM4 teneurin transmembrane protein 4
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
WNT9A wingless-type MMTV integration site family, member 9A