small mandible Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Developmental hypoplasia of the mandible. (Human Phenotype Ontology, HP_0000347)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004592
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
ACVR2A activin A receptor, type IIA
ALX1 ALX homeobox 1
ASXL1 additional sex combs like transcriptional regulator 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
CNBP CCHC-type zinc finger, nucleic acid binding protein
COL11A1 collagen, type XI, alpha 1
COL2A1 collagen, type II, alpha 1
CTGF connective tissue growth factor
DLG1 discs, large homolog 1 (Drosophila)
DLX5 distal-less homeobox 5
DLX6 distal-less homeobox 6
ECE1 endothelin converting enzyme 1
EDN1 endothelin 1
EDNRA endothelin receptor type A
EGFR epidermal growth factor receptor
EYA1 EYA transcriptional coactivator and phosphatase 1
FGFR1 fibroblast growth factor receptor 1
FGFRL1 fibroblast growth factor receptor-like 1
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FUZ fuzzy planar cell polarity protein
GJA1 gap junction protein, alpha 1, 43kDa
GLI2 GLI family zinc finger 2
GPC3 glypican 3
GSC goosecoid homeobox
HAND2 heart and neural crest derivatives expressed 2
HOXA3 homeobox A3
HSPG2 heparan sulfate proteoglycan 2
IFT27 intraflagellar transport 27
IHH indian hedgehog
IRF6 interferon regulatory factor 6
LMNA lamin A/C
LTBP1 latent transforming growth factor beta binding protein 1
MKS1 Meckel syndrome, type 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MNT MAX network transcriptional repressor
MSX1 msh homeobox 1
NABP2 nucleic acid binding protein 2
NFIC nuclear factor I/C (CCAAT-binding transcription factor)
OTX2 orthodenticle homeobox 2
PAPPA2 pappalysin 2
PAX9 paired box 9
PDPK1 3-phosphoinositide dependent protein kinase 1
PDS5B PDS5 cohesin associated factor B
PGAP1 post-GPI attachment to proteins 1
PHEX phosphate regulating endopeptidase homolog, X-linked
PITX1 paired-like homeodomain 1
PRDM16 PR domain containing 16
PRRX1 paired related homeobox 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
RPGRIP1L RPGRIP1-like
RSPO2 R-spondin 2
RYK receptor-like tyrosine kinase
SATB2 SATB homeobox 2
SC5D sterol-C5-desaturase
SH3PXD2B SH3 and PX domains 2B
SIX1 SIX homeobox 1
SKI SKI proto-oncogene
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SMAD2 SMAD family member 2
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
TMEM67 transmembrane protein 67
TP63 tumor protein p63
TRPS1 trichorhinophalangeal syndrome I
VEGFA vascular endothelial growth factor A
WDR19 WD repeat domain 19
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