cervical vertebral fusion Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another. (Human Phenotype Ontology, HP_0002949)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004620
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Genes

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

Symbol Name
BMP4 bone morphogenetic protein 4
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CHUK conserved helix-loop-helix ubiquitous kinase
DEAF1 DEAF1 transcription factor
DHRS3 dehydrogenase/reductase (SDR family) member 3
EYA1 EYA transcriptional coactivator and phosphatase 1
FGFR2 fibroblast growth factor receptor 2
FLNB filamin B, beta
HOXB3 homeobox B3
HOXD1 homeobox D1
HOXD3 homeobox D3
HS2ST1 heparan sulfate 2-O-sulfotransferase 1
HYAL2 hyaluronoglucosaminidase 2
KMT2A lysine (K)-specific methyltransferase 2A
LMO4 LIM domain only 4
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
MYF5 myogenic factor 5
NDC1 NDC1 transmembrane nucleoporin
PAX1 paired box 1
PDS5A PDS5 cohesin associated factor A
PHC1 polyhomeotic homolog 1 (Drosophila)
PHC2 polyhomeotic homolog 2 (Drosophila)
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
RPL38 ribosomal protein L38
SCMH1 sex comb on midleg homolog 1 (Drosophila)
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SHH sonic hedgehog
SIX1 SIX homeobox 1
T T, brachyury homolog (mouse)
TBX6 T-box 6
TSHZ1 teashirt zinc finger homeobox 1