abnormal jaw morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the bony framework of the mouth where the teeth are held (Mammalian Phenotype Ontology, MP_0000454)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000454
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Genes

212 gene mutations causing the abnormal jaw 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
AMBN ameloblastin (enamel matrix protein)
AMELY amelogenin, Y-linked
ANKH ANKH inorganic pyrophosphate transport regulator
AP2B1 adaptor-related protein complex 2, beta 1 subunit
APAF1 apoptotic peptidase activating factor 1
APC adenomatous polyposis coli
ARID5B AT rich interactive domain 5B (MRF1-like)
ARSB arylsulfatase B
ASXL1 additional sex combs like transcriptional regulator 1
ATMIN ATM interactor
ATR ATR serine/threonine kinase
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCL11B B-cell CLL/lymphoma 11B (zinc finger protein)
BMP5 bone morphogenetic protein 5
BMP7 bone morphogenetic protein 7
BNC2 basonuclin 2
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
CCDC39 coiled-coil domain containing 39
CCND1 cyclin D1
CDON cell adhesion associated, oncogene regulated
CEP290 centrosomal protein 290kDa
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
COL1A1 collagen, type I, alpha 1
COL27A1 collagen, type XXVII, alpha 1
COL2A1 collagen, type II, alpha 1
CREBBP CREB binding protein
CSRP2BP CSRP2 binding protein
CTGF connective tissue growth factor
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNNBIP1 catenin, beta interacting protein 1
CTSK cathepsin K
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1
DCTN5 dynactin 5 (p25)
DHRS3 dehydrogenase/reductase (SDR family) member 3
DKK1 dickkopf WNT signaling pathway inhibitor 1
DLG1 discs, large homolog 1 (Drosophila)
DLX2 distal-less homeobox 2
DLX5 distal-less homeobox 5
DLX6 distal-less homeobox 6
DMP1 dentin matrix acidic phosphoprotein 1
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNAI1 dynein, axonemal, intermediate chain 1
DRC1 dynein regulatory complex subunit 1
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
ECE1 endothelin converting enzyme 1
EDN1 endothelin 1
EDNRA endothelin receptor type A
EDNRB endothelin receptor type B
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
FBLN1 fibulin 1
FBN1 fibrillin 1
FGF18 fibroblast growth factor 18
FGF9 fibroblast growth factor 9
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
FIGN fidgetin
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXF2 forkhead box F2
FOXI3 forkhead box I3
FUZ fuzzy planar cell polarity protein
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GAS1 growth arrest-specific 1
GJA1 gap junction protein, alpha 1, 43kDa
GJB2 gap junction protein, beta 2, 26kDa
GLG1 golgi glycoprotein 1
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GPC3 glypican 3
GRB2 growth factor receptor-bound protein 2
GSC goosecoid homeobox
GTF2IRD1 GTF2I repeat domain containing 1
HAND2 heart and neural crest derivatives expressed 2
HAT1 histone acetyltransferase 1
HHAT hedgehog acyltransferase
HOXA3 homeobox A3
HRAS Harvey rat sarcoma viral oncogene homolog
HSPB11 heat shock protein family B (small), member 11
HSPG2 heparan sulfate proteoglycan 2
IDUA iduronidase, alpha-L-
IFNG interferon, gamma
IFT27 intraflagellar transport 27
IFT57 intraflagellar transport 57
IHH indian hedgehog
IL10 interleukin 10
IL12B interleukin 12B
IL4 interleukin 4
INHBA inhibin, beta A
IRF6 interferon regulatory factor 6
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
JAG2 jagged 2
KAT6A K(lysine) acetyltransferase 6A
KAT6B K(lysine) acetyltransferase 6B
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KDM4B lysine (K)-specific demethylase 4B
KLF2 Kruppel-like factor 2
LEF1 lymphoid enhancer-binding factor 1
LMNA lamin A/C
LPAR4 lysophosphatidic acid receptor 4
LRP2 low density lipoprotein receptor-related protein 2
LTBP1 latent transforming growth factor beta binding protein 1
LTBP3 latent transforming growth factor beta binding protein 3
MECP2 methyl CpG binding protein 2
MIR140 microRNA 140
MKS1 Meckel syndrome, type 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MN1 meningioma (disrupted in balanced translocation) 1
MNT MAX network transcriptional repressor
MSX1 msh homeobox 1
MYH10 myosin, heavy chain 10, non-muscle
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
OSTM1 osteopetrosis associated transmembrane protein 1
OTULIN OTU deubiquitinase with linear linkage specificity
OTX2 orthodenticle homeobox 2
PAK1IP1 PAK1 interacting protein 1
PAPPA2 pappalysin 2
PAX1 paired box 1
PAX6 paired box 6
PAX7 paired box 7
PAX9 paired box 9
PCSK6 proprotein convertase subtilisin/kexin type 6
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
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKDCC protein kinase domain containing, cytoplasmic
POSTN periostin, osteoblast specific factor
POU3F3 POU class 3 homeobox 3
PRDM16 PR domain containing 16
PRICKLE1 prickle homolog 1 (Drosophila)
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
PTK7 protein tyrosine kinase 7 (inactive)
RFNG RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
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
SCHIP1 schwannomin interacting protein 1
SETD5 SET domain containing 5
SFN stratifin
SH3BP2 SH3-domain binding protein 2
SH3PXD2B SH3 and PX domains 2B
SHH sonic hedgehog
SIRT1 sirtuin 1
SIX1 SIX homeobox 1
SKI SKI proto-oncogene
SLC25A21 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SMAD2 SMAD family member 2
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMG1 SMG1 phosphatidylinositol 3-kinase-related kinase
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SOSTDC1 sclerostin domain containing 1
SOX11 SRY (sex determining region Y)-box 11
SOX9 SRY (sex determining region Y)-box 9
SPRY4 sprouty homolog 4 (Drosophila)
SUFU suppressor of fused homolog (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
TIPARP TCDD-inducible poly(ADP-ribose) polymerase
TMEM67 transmembrane protein 67
TNF tumor necrosis factor
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