abnormal mandible morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the lower bony framework of the mouth where the inferior teeth are held (Mammalian Phenotype Ontology, MP_0000458)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000458
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Genes

125 gene mutations causing the abnormal mandible morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACVR2A activin A receptor, type IIA
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
ALX1 ALX homeobox 1
AMELY amelogenin, Y-linked
ANKH ANKH inorganic pyrophosphate transport regulator
APC adenomatous polyposis coli
ASXL1 additional sex combs like transcriptional regulator 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BMP5 bone morphogenetic protein 5
BMP7 bone morphogenetic protein 7
BRD4 bromodomain containing 4
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CBFB core-binding factor, beta subunit
CCND1 cyclin D1
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
COL27A1 collagen, type XXVII, alpha 1
COL2A1 collagen, type II, alpha 1
CTGF connective tissue growth factor
CTSK cathepsin K
DKK1 dickkopf WNT signaling pathway inhibitor 1
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
EGR2 early growth response 2
EYA1 EYA transcriptional coactivator and phosphatase 1
FAM20C family with sequence similarity 20, member C
FBN1 fibrillin 1
FGFR1 fibroblast growth factor receptor 1
FGFRL1 fibroblast growth factor receptor-like 1
FIGN fidgetin
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXI3 forkhead box I3
FUZ fuzzy planar cell polarity protein
GJA1 gap junction protein, alpha 1, 43kDa
GJB2 gap junction protein, beta 2, 26kDa
GLI2 GLI family zinc finger 2
GPC3 glypican 3
GRB2 growth factor receptor-bound protein 2
GSC goosecoid homeobox
HAND2 heart and neural crest derivatives expressed 2
HAT1 histone acetyltransferase 1
HHAT hedgehog acyltransferase
HOXA3 homeobox A3
HSPG2 heparan sulfate proteoglycan 2
IDUA iduronidase, alpha-L-
IFT27 intraflagellar transport 27
IHH indian hedgehog
IRF6 interferon regulatory factor 6
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
KLF2 Kruppel-like factor 2
LMNA lamin A/C
LPAR4 lysophosphatidic acid receptor 4
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
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NFIC nuclear factor I/C (CCAAT-binding transcription factor)
NPR2 natriuretic peptide receptor 2
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
PITX2 paired-like homeodomain 2
POSTN periostin, osteoblast specific factor
PRDM16 PR domain containing 16
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
PRRX1 paired related homeobox 1
PTCH1 patched 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
SFN stratifin
SH3PXD2B SH3 and PX domains 2B
SIX1 SIX homeobox 1
SKI SKI proto-oncogene
SLC25A21 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21
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
SPRY4 sprouty homolog 4 (Drosophila)
TBX1 T-box 1
TBX15 T-box 15
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
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TP63 tumor protein p63
TRPS1 trichorhinophalangeal syndrome I
TWSG1 twisted gastrulation BMP signaling modulator 1
VEGFA vascular endothelial growth factor A
WDR19 WD repeat domain 19
WNT5A wingless-type MMTV integration site family, member 5A
XYLT1 xylosyltransferase I
YBX1 Y box binding protein 1
ZEB1 zinc finger E-box binding homeobox 1
ZIC3 Zic family member 3
ZIC5 Zic family member 5
ZMPSTE24 zinc metallopeptidase STE24