abnormal mouth morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the oral cavity (Mammalian Phenotype Ontology, MP_0000452)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000452
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Genes

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

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ACAN aggrecan
ACVR2A activin A receptor, type IIA
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6
ADGRA2 adhesion G protein-coupled receptor A2
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AKAP9 A kinase (PRKA) anchor protein 9
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
ALPL alkaline phosphatase, liver/bone/kidney
AMBN ameloblastin (enamel matrix protein)
AMELY amelogenin, Y-linked
ANKH ANKH inorganic pyrophosphate transport regulator
ANP32B acidic (leucine-rich) nuclear phosphoprotein 32 family, member B
ANTXR1 anthrax toxin receptor 1
AP2B1 adaptor-related protein complex 2, beta 1 subunit
APAF1 apoptotic peptidase activating factor 1
ARID5B AT rich interactive domain 5B (MRF1-like)
ASPH aspartate beta-hydroxylase
ASXL1 additional sex combs like transcriptional regulator 1
B9D1 B9 protein domain 1
BARX1 BARX homeobox 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBX bobby sox homolog (Drosophila)
BCL11B B-cell CLL/lymphoma 11B (zinc finger protein)
BDNF brain-derived neurotrophic factor
BMP7 bone morphogenetic protein 7
BNC2 basonuclin 2
C5ORF42 chromosome 5 open reading frame 42
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CAPN6 calpain 6
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CASP3 caspase 3, apoptosis-related cysteine peptidase
CC2D2A coiled-coil and C2 domain containing 2A
CCL13 chemokine (C-C motif) ligand 13
CCND1 cyclin D1
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDON cell adhesion associated, oncogene regulated
CHD7 chromodomain helicase DNA binding protein 7
CHRD chordin
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CHUK conserved helix-loop-helix ubiquitous kinase
CKAP5 cytoskeleton associated protein 5
CLCN5 chloride channel, voltage-sensitive 5
CLCN7 chloride channel, voltage-sensitive 7
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
COL7A1 collagen, type VII, alpha 1
COX6A1 cytochrome c oxidase subunit VIa polypeptide 1
CRAMP1L Crm, cramped-like (Drosophila)
CREB3L2 cAMP responsive element binding protein 3-like 2
CREBBP CREB binding protein
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CSF1 colony stimulating factor 1 (macrophage)
CSF1R colony stimulating factor 1 receptor
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CSRNP1 cysteine-serine-rich nuclear protein 1
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
CTSV cathepsin V
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1
DCN decorin
DCTN5 dynactin 5 (p25)
DHCR7 7-dehydrocholesterol reductase
DHRS3 dehydrogenase/reductase (SDR family) member 3
DISP1 dispatched homolog 1 (Drosophila)
DLG1 discs, large homolog 1 (Drosophila)
DLX1 distal-less homeobox 1
DLX2 distal-less homeobox 2
DLX5 distal-less homeobox 5
DLX6 distal-less homeobox 6
DMP1 dentin matrix acidic phosphoprotein 1
DNM2 dynamin 2
DPH1 diphthamide biosynthesis 1
DSG3 desmoglein 3
DSPP dentin sialophosphoprotein
DST dystonin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
ECE1 endothelin converting enzyme 1
EDA ectodysplasin A
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
EDN1 endothelin 1
EDNRA endothelin receptor type A
EDNRB endothelin receptor type B
EFNA5 ephrin-A5
EFNB1 ephrin-B1
EFNB2 ephrin-B2
EGFR epidermal growth factor receptor
ENAM enamelin
EVC Ellis van Creveld protein
EXOC3L2 exocyst complex component 3-like 2
EYA1 EYA transcriptional coactivator and phosphatase 1
EYA4 EYA transcriptional coactivator and phosphatase 4
FAM20A family with sequence similarity 20, member A
FAM20C family with sequence similarity 20, member C
FAM73B family with sequence similarity 73, member B
FBXO11 F-box protein 11
FCGBP Fc fragment of IgG binding protein
FES FES proto-oncogene, tyrosine kinase
FGF10 fibroblast growth factor 10
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
FIG4 FIG4 phosphoinositide 5-phosphatase
FIGN fidgetin
FLNA filamin A, alpha
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXA2 forkhead box A2
FOXC2 forkhead box C2
FOXE1 forkhead box E1
FOXF2 forkhead box F2
FOXI3 forkhead box I3
FRAS1 Fraser extracellular matrix complex subunit 1
FST follistatin
FUZ fuzzy planar cell polarity protein
FZD2 frizzled class receptor 2
GAB1 GRB2-associated binding protein 1
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GBX2 gastrulation brain homeobox 2
GDF11 growth differentiation factor 11
GJA1 gap junction protein, alpha 1, 43kDa
GLCE glucuronic acid epimerase
GLG1 golgi glycoprotein 1
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GRB2 growth factor receptor-bound protein 2
GSC goosecoid homeobox
GSK3B glycogen synthase kinase 3 beta
HAND2 heart and neural crest derivatives expressed 2
HHAT hedgehog acyltransferase
HIC1 hypermethylated in cancer 1
HOXA2 homeobox A2
HOXA3 homeobox A3
HOXB1 homeobox B1
HOXB2 homeobox B2
HOXB8 homeobox B8
HOXC13 homeobox C13
HRAS Harvey rat sarcoma viral oncogene homolog
HS2ST1 heparan sulfate 2-O-sulfotransferase 1
HSPB11 heat shock protein family B (small), member 11
HSPG2 heparan sulfate proteoglycan 2
IDUA iduronidase, alpha-L-
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
IFT88 intraflagellar transport 88
IL1R1 interleukin 1 receptor, type I
IMPAD1 inositol monophosphatase domain containing 1
INHBA inhibin, beta A
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
IRF6 interferon regulatory factor 6
ITGA11 integrin, alpha 11
ITGA6 integrin, alpha 6
ITGAV integrin, alpha V
ITGB4 integrin, beta 4
ITGB8 integrin, beta 8
JAG2 jagged 2
JMJD6 jumonji domain containing 6
KAT6A K(lysine) acetyltransferase 6A
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KDF1 keratinocyte differentiation factor 1
KDM4B lysine (K)-specific demethylase 4B
KIF7 kinesin family member 7
KLF4 Kruppel-like factor 4 (gut)
KLK4 kallikrein-related peptidase 4
KRT16 keratin 16, type I
KRT4 keratin 4, type II
KRT5 keratin 5, type II
KRT6B keratin 6B, type II
LAMA3 laminin, alpha 3
LAMA5 laminin, alpha 5
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LARGE like-glycosyltransferase
LASP1 LIM and SH3 protein 1
LEF1 lymphoid enhancer-binding factor 1
LGR5 leucine-rich repeat containing G protein-coupled receptor 5
LHX8 LIM homeobox 8
LMNA lamin A/C
LPAR1 lysophosphatidic acid receptor 1
LRP2 low density lipoprotein receptor-related protein 2
LRP4 low density lipoprotein receptor-related protein 4
LRP6 low density lipoprotein receptor-related protein 6
LTBP1 latent transforming growth factor beta binding protein 1
LTBP3 latent transforming growth factor beta binding protein 3
LUZP1 leucine zipper protein 1
MAP3K11 mitogen-activated protein kinase kinase kinase 11
MECP2 methyl CpG binding protein 2
MEGF8 multiple EGF-like-domains 8
MEOX2 mesenchyme homeobox 2
MET MET proto-oncogene, receptor tyrosine kinase
MIDN midnolin
MITF microphthalmia-associated transcription factor
MKS1 Meckel syndrome, type 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP20 matrix metallopeptidase 20
MN1 meningioma (disrupted in balanced translocation) 1
MNT MAX network transcriptional repressor
MSX1 msh homeobox 1
MSX2 msh homeobox 2
MTF2 metal response element binding transcription factor 2
MYH10 myosin, heavy chain 10, non-muscle
NABP2 nucleic acid binding protein 2
NCOA6 nuclear receptor coactivator 6
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NF2 neurofibromin 2 (merlin)
NFE2L2 nuclear factor, erythroid 2-like 2
NFIC nuclear factor I/C (CCAAT-binding transcription factor)
NGFR nerve growth factor receptor
NKX2-3 NK2 homeobox 3
NOS2 nitric oxide synthase 2, inducible
NPHP3 nephronophthisis 3 (adolescent)
NPR2 natriuretic peptide receptor 2
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OCA2 oculocutaneous albinism II
OSR2 odd-skipped related transciption factor 2
OSTM1 osteopetrosis associated transmembrane protein 1
OTX2 orthodenticle homeobox 2
PAK1IP1 PAK1 interacting protein 1
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PAX3 paired box 3
PAX6 paired box 6
PAX9 paired box 9
PBX1 pre-B-cell leukemia homeobox 1
PC pyruvate carboxylase
PCSK5 proprotein convertase subtilisin/kexin type 5
PDGFC platelet derived growth factor C
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDS5A PDS5 cohesin associated factor A
PDS5B PDS5 cohesin associated factor B
PHC1 polyhomeotic homolog 1 (Drosophila)
PITX1 paired-like homeodomain 1
PITX2 paired-like homeodomain 2
PKDCC protein kinase domain containing, cytoplasmic
PLXND1 plexin D1
PNN pinin, desmosome associated protein
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POSTN periostin, osteoblast specific factor
POU1F1 POU class 1 homeobox 1
PRDM16 PR domain containing 16
PRICKLE1 prickle homolog 1 (Drosophila)
PRRX1 paired related homeobox 1
PTCH1 patched 1
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
PTPN9 protein tyrosine phosphatase, non-receptor type 9
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
PVRL3 poliovirus receptor-related 3
RAD23B RAD23 homolog B (S. cerevisiae)
RAX retina and anterior neural fold homeobox
RECQL4 RecQ protein-like 4
RFNG RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
RHOBTB3 Rho-related BTB domain containing 3
RIPK4 receptor-interacting serine-threonine kinase 4
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPGRIP1L RPGRIP1-like
RPL38 ribosomal protein L38
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RSPO2 R-spondin 2
RUNX2 runt-related transcription factor 2
RYK receptor-like tyrosine kinase
RYR1 ryanodine receptor 1 (skeletal)
SALL3 spalt-like transcription factor 3
SATB2 SATB homeobox 2
SC5D sterol-C5-desaturase
SCHIP1 schwannomin interacting protein 1
SDCCAG8 serologically defined colon cancer antigen 8
SETD5 SET domain containing 5
SFN stratifin
SGPL1 sphingosine-1-phosphate lyase 1
SH3PXD2B SH3 and PX domains 2B
SHARPIN SHANK-associated RH domain interactor
SHH sonic hedgehog
SHOX2 short stature homeobox 2
SIM2 single-minded family bHLH transcription factor 2
SIRT1 sirtuin 1
SIX1 SIX homeobox 1
SKOR2 SKI family transcriptional corepressor 2
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4
SLC25A21 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
SLC32A1 solute carrier family 32 (GABA vesicular transporter), member 1
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC4A2 solute carrier family 4 (anion exchanger), member 2
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLMAP sarcolemma associated protein
SLX4 SLX4 structure-specific endonuclease subunit
SMAD7 SMAD family member 7
SMG1 SMG1 phosphatidylinositol 3-kinase-related kinase
SMOC1 SPARC related modular calcium binding 1
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SNAI2 snail family zinc finger 2
SOS1 son of sevenless homolog 1 (Drosophila)
SOSTDC1 sclerostin domain containing 1
SOX11 SRY (sex determining region Y)-box 11
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SOX5 SRY (sex determining region Y)-box 5
SOX9 SRY (sex determining region Y)-box 9
SP3 Sp3 transcription factor
SP6 Sp6 transcription factor
SP8 Sp8 transcription factor
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
SPI1 Spi-1 proto-oncogene
SPRY2 sprouty homolog 2 (Drosophila)
SPRY4 sprouty homolog 4 (Drosophila)
SPTBN1 spectrin, beta, non-erythrocytic 1
SRC SRC proto-oncogene, non-receptor tyrosine kinase
ST14 suppression of tumorigenicity 14 (colon carcinoma)
STAG1 stromal antigen 1
SUFU suppressor of fused homolog (Drosophila)
SUMO1 small ubiquitin-like modifier 1
TAPT1 transmembrane anterior posterior transformation 1
TBC1D32 TBC1 domain family, member 32
TBX1 T-box 1
TBX10 T-box 10
TBX2 T-box 2
TBX22 T-box 22
TBX3 T-box 3
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN2 tectonic family member 2
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TGFB3 transforming growth factor, beta 3
TGIF1 TGFB-induced factor homeobox 1
TIPARP TCDD-inducible poly(ADP-ribose) polymerase
TMEM107 transmembrane protein 107
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TP53 tumor protein p53
TP63 tumor protein p63
TRAF3IP2 TRAF3 interacting protein 2
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRPS1 trichorhinophalangeal syndrome I
TSHZ1 teashirt zinc finger homeobox 1
TWIST1 twist family bHLH transcription factor 1
TWSG1 twisted gastrulation BMP signaling modulator 1
UBE3B ubiquitin protein ligase E3B
UROS uroporphyrinogen III synthase
VAX1 ventral anterior homeobox 1
VEGFA vascular endothelial growth factor A
WDPCP WD repeat containing planar cell polarity effector
WDR19 WD repeat domain 19
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT5A wingless-type MMTV integration site family, member 5A
WNT9B wingless-type MMTV integration site family, member 9B
ZEB1 zinc finger E-box binding homeobox 1
ZIC3 Zic family member 3
ZIC5 Zic family member 5
ZMPSTE24 zinc metallopeptidase STE24