short mandible Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description reduced length of the lower bony framework of the mouth where the inferior teeth are held (Mammalian Phenotype Ontology, MP_0000088)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000088
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Genes

53 gene mutations causing the short mandible phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ALX1 ALX homeobox 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BMP5 bone morphogenetic protein 5
BRD4 bromodomain containing 4
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CHRD chordin
CHST11 carbohydrate (chondroitin 4) sulfotransferase 11
CHUK conserved helix-loop-helix ubiquitous kinase
COL11A1 collagen, type XI, alpha 1
COL2A1 collagen, type II, alpha 1
CTGF connective tissue growth factor
DLX5 distal-less homeobox 5
EGFR epidermal growth factor receptor
FGFR1 fibroblast growth factor receptor 1
FOXC1 forkhead box C1
GSC goosecoid homeobox
HAND2 heart and neural crest derivatives expressed 2
HOXA3 homeobox A3
HSPG2 heparan sulfate proteoglycan 2
IHH indian hedgehog
LMNA lamin A/C
LTBP1 latent transforming growth factor beta binding protein 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MSX1 msh homeobox 1
PAPPA2 pappalysin 2
PDPK1 3-phosphoinositide dependent protein kinase 1
PDS5B PDS5 cohesin associated factor B
PHEX phosphate regulating endopeptidase homolog, X-linked
PITX1 paired-like homeodomain 1
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
RFNG RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
ROR2 receptor tyrosine kinase-like orphan receptor 2
RSPO2 R-spondin 2
RYK receptor-like tyrosine kinase
SATB2 SATB homeobox 2
SH3PXD2B SH3 and PX domains 2B
SIX1 SIX homeobox 1
SKI SKI proto-oncogene
SOSTDC1 sclerostin domain containing 1
SOX9 SRY (sex determining region Y)-box 9
TBX1 T-box 1
TCOF1 Treacher Collins-Franceschetti syndrome 1
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB2 transforming growth factor, beta 2
TRPS1 trichorhinophalangeal syndrome I
VEGFA vascular endothelial growth factor A
WNT5A wingless-type MMTV integration site family, member 5A
XYLT1 xylosyltransferase I
ZEB1 zinc finger E-box binding homeobox 1
ZIC5 Zic family member 5