abnormal maxilla morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the upper bony framework of the mouth where the superior teeth are held (Mammalian Phenotype Ontology, MP_0000455)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000455
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Genes

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

Symbol Name
ALX1 ALX homeobox 1
APAF1 apoptotic peptidase activating factor 1
ARID5B AT rich interactive domain 5B (MRF1-like)
ARSB arylsulfatase B
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
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CBFB core-binding factor, beta subunit
CCND1 cyclin D1
CDON cell adhesion associated, oncogene regulated
CHST11 carbohydrate (chondroitin 4) sulfotransferase 11
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
CREBBP CREB binding protein
CSRP2BP CSRP2 binding protein
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNNBIP1 catenin, beta interacting protein 1
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
EDNRA endothelin receptor type A
EDNRB endothelin receptor type B
EYA1 EYA transcriptional coactivator and phosphatase 1
FAM20C family with sequence similarity 20, member C
FBLN1 fibulin 1
FGF18 fibroblast growth factor 18
FGF9 fibroblast growth factor 9
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FOXC1 forkhead box C1
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
GLG1 golgi glycoprotein 1
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GSC goosecoid homeobox
HAND2 heart and neural crest derivatives expressed 2
HOXA3 homeobox A3
HRAS Harvey rat sarcoma viral oncogene homolog
IFT57 intraflagellar transport 57
JAG2 jagged 2
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KDM4B lysine (K)-specific demethylase 4B
LMNA lamin A/C
LTBP1 latent transforming growth factor beta binding protein 1
LTBP3 latent transforming growth factor beta binding protein 3
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
MSX1 msh homeobox 1
NABP2 nucleic acid binding protein 2
NPR2 natriuretic peptide receptor 2
OSTM1 osteopetrosis associated transmembrane protein 1
OTX2 orthodenticle homeobox 2
PAK1IP1 PAK1 interacting protein 1
PAX6 paired box 6
PAX7 paired box 7
PAX9 paired box 9
PHEX phosphate regulating endopeptidase homolog, X-linked
PITX2 paired-like homeodomain 2
PKDCC protein kinase domain containing, cytoplasmic
PRDM16 PR domain containing 16
PRRX1 paired related homeobox 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPGRIP1L RPGRIP1-like
RSPO2 R-spondin 2
RYK receptor-like tyrosine kinase
SATB2 SATB homeobox 2
SCHIP1 schwannomin interacting protein 1
SETD5 SET domain containing 5
SH3PXD2B SH3 and PX domains 2B
SHH sonic hedgehog
SIRT1 sirtuin 1
SIX1 SIX homeobox 1
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SOX11 SRY (sex determining region Y)-box 11
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
TP63 tumor protein p63
TRPS1 trichorhinophalangeal syndrome I
WDR19 WD repeat domain 19
YBX1 Y box binding protein 1
ZEB1 zinc finger E-box binding homeobox 1
ZIC3 Zic family member 3
ZIC5 Zic family member 5