abnormal craniofacial development Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the process of forming the face and/or cranium (Mammalian Phenotype Ontology, MP_0003935)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003935
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Genes

295 gene mutations causing the abnormal craniofacial development phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABI1 abl-interactor 1
ACVRL1 activin A receptor type II-like 1
ADAM10 ADAM metallopeptidase domain 10
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AKAP13 A kinase (PRKA) anchor protein 13
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
ALX1 ALX homeobox 1
ALX3 ALX homeobox 3
AMBN ameloblastin (enamel matrix protein)
AMELY amelogenin, Y-linked
ANTXR1 anthrax toxin receptor 1
AP2B1 adaptor-related protein complex 2, beta 1 subunit
APAF1 apoptotic peptidase activating factor 1
APH1A APH1A gamma secretase subunit
ARID3B AT rich interactive domain 3B (BRIGHT-like)
B9D2 B9 protein domain 2
BARX1 BARX homeobox 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCL11B B-cell CLL/lymphoma 11B (zinc finger protein)
BMP7 bone morphogenetic protein 7
BMPER BMP binding endothelial regulator
BNC2 basonuclin 2
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CC2D2A coiled-coil and C2 domain containing 2A
CCM2 cerebral cavernous malformation 2
CDH5 cadherin 5, type 2 (vascular endothelium)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDON cell adhesion associated, oncogene regulated
CENPA centromere protein A
CHD7 chromodomain helicase DNA binding protein 7
CHRD chordin
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CHTOP chromatin target of PRMT1
CHUK conserved helix-loop-helix ubiquitous kinase
CLCN5 chloride channel, voltage-sensitive 5
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL2A1 collagen, type II, alpha 1
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CSF1 colony stimulating factor 1 (macrophage)
CSK c-src tyrosine kinase
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CTGF connective tissue growth factor
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSK cathepsin K
DHCR7 7-dehydrocholesterol reductase
DHRS3 dehydrogenase/reductase (SDR family) member 3
DISP1 dispatched homolog 1 (Drosophila)
DKK1 dickkopf WNT signaling pathway inhibitor 1
DLC1 DLC1 Rho GTPase activating protein
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
DSPP dentin sialophosphoprotein
ECE1 endothelin converting enzyme 1
EDA ectodysplasin A
EDAR ectodysplasin A receptor
EDN1 endothelin 1
EDNRA endothelin receptor type A
EDNRB endothelin receptor type B
EFNB1 ephrin-B1
EFNB2 ephrin-B2
EGFR epidermal growth factor receptor
ENAM enamelin
ENG endoglin
ERP44 endoplasmic reticulum protein 44
EYA1 EYA transcriptional coactivator and phosphatase 1
FAM20A family with sequence similarity 20, member A
FAM20C family with sequence similarity 20, member C
FANCI Fanconi anemia, complementation group I
FGF10 fibroblast growth factor 10
FGF16 fibroblast growth factor 16
FGF18 fibroblast growth factor 18
FGF8 fibroblast growth factor 8 (androgen-induced)
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FLNA filamin A, alpha
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FOLR1 folate receptor 1 (adult)
FOXA2 forkhead box A2
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXE1 forkhead box E1
FOXF2 forkhead box F2
FOXG1 forkhead box G1
FOXH1 forkhead box H1
FOXI3 forkhead box I3
FOXO1 forkhead box O1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FRS2 fibroblast growth factor receptor substrate 2
FST follistatin
FUZ fuzzy planar cell polarity protein
GAB1 GRB2-associated binding protein 1
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GBX2 gastrulation brain homeobox 2
GCM2 glial cells missing homolog 2 (Drosophila)
GJA1 gap junction protein, alpha 1, 43kDa
GLDC glycine dehydrogenase (decarboxylating)
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
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HAND1 heart and neural crest derivatives expressed 1
HAND2 heart and neural crest derivatives expressed 2
HAPLN1 hyaluronan and proteoglycan link protein 1
HDAC7 histone deacetylase 7
HECTD1 HECT domain containing E3 ubiquitin protein ligase 1
HES1 hes family bHLH transcription factor 1
HESX1 HESX homeobox 1
HFM Hemifacial microsomia
HHAT hedgehog acyltransferase
HHEX hematopoietically expressed homeobox
HIC1 hypermethylated in cancer 1
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HIRA histone cell cycle regulator
HOXA1 homeobox A1
HOXA2 homeobox A2
HOXA3 homeobox A3
HSD17B7 hydroxysteroid (17-beta) dehydrogenase 7
IFT122 intraflagellar transport 122
IFT88 intraflagellar transport 88
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
IRF6 interferon regulatory factor 6
ISL1 ISL LIM homeobox 1
ITGAV integrin, alpha V
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
ITGB8 integrin, beta 8
JAG2 jagged 2
KAT6A K(lysine) acetyltransferase 6A
KAT7 K(lysine) acetyltransferase 7
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KDF1 keratinocyte differentiation factor 1
KIAA0586 KIAA0586
KIF3A kinesin family member 3A
KIFAP3 kinesin-associated protein 3
KRIT1 KRIT1, ankyrin repeat containing
LAMA3 laminin, alpha 3
LAMA5 laminin, alpha 5
LATS2 large tumor suppressor kinase 2
LEF1 lymphoid enhancer-binding factor 1
LHX8 LIM homeobox 8
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
LUZP1 leucine zipper protein 1
LZTR1 leucine-zipper-like transcription regulator 1
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAP3K11 mitogen-activated protein kinase kinase kinase 11
MAP3K7 mitogen-activated protein kinase kinase kinase 7
MAPK7 mitogen-activated protein kinase 7
MARCH5 membrane-associated ring finger (C3HC4) 5
MBD4 methyl-CpG binding domain protein 4
MECOM MDS1 and EVI1 complex locus
MED12 mediator complex subunit 12
MEF2C myocyte enhancer factor 2C
MEN1 multiple endocrine neoplasia I
MIB1 mindbomb E3 ubiquitin protein ligase 1
MKL2 MKL/myocardin-like 2
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
MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NCOA6 nuclear receptor coactivator 6
NCSTN nicastrin
NF2 neurofibromin 2 (merlin)
NFE2L2 nuclear factor, erythroid 2-like 2
NFIB nuclear factor I/B
NFIC nuclear factor I/C (CCAAT-binding transcription factor)
NKX2-3 NK2 homeobox 3
NKX2-5 NK2 homeobox 5
NODAL nodal growth differentiation factor
NOTCH1 notch 1
NRP1 neuropilin 1
OPA1 optic atrophy 1 (autosomal dominant)
OSR2 odd-skipped related transciption factor 2
OTULIN OTU deubiquitinase with linear linkage specificity
OTX2 orthodenticle homeobox 2
OVOL2 ovo-like zinc finger 2
PAK1IP1 PAK1 interacting protein 1
PAX3 paired box 3
PAX6 paired box 6
PAX7 paired box 7
PAX9 paired box 9
PBX1 pre-B-cell leukemia homeobox 1
PCSK6 proprotein convertase subtilisin/kexin type 6
PDGFC platelet derived growth factor C
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDPK1 3-phosphoinositide dependent protein kinase 1
PDS5A PDS5 cohesin associated factor A
PDS5B PDS5 cohesin associated factor B
PGAP1 post-GPI attachment to proteins 1
PHC1 polyhomeotic homolog 1 (Drosophila)
PHF20 PHD finger protein 20
PITX1 paired-like homeodomain 1
PITX2 paired-like homeodomain 2
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKDCC protein kinase domain containing, cytoplasmic
PLXND1 plexin D1
POR P450 (cytochrome) oxidoreductase
POSTN periostin, osteoblast specific factor
PRDM1 PR domain containing 1, with ZNF domain
PRDM16 PR domain containing 16
PRRX1 paired related homeobox 1
PTCH1 patched 1
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
RAD17 RAD17 homolog (S. pombe)
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RAX retina and anterior neural fold homeobox
RDH10 retinol dehydrogenase 10 (all-trans)
RECQL4 RecQ protein-like 4
RERE arginine-glutamic acid dipeptide (RE) repeats
REV3L REV3-like, polymerase (DNA directed), zeta, catalytic subunit
RFNG RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
RIPPLY3 ripply transcriptional repressor 3
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RPSA ribosomal protein SA
RSPO2 R-spondin 2
RUNX2 runt-related transcription factor 2
RXRA retinoid X receptor, alpha
SATB2 SATB homeobox 2
SCHIP1 schwannomin interacting protein 1
SETD2 SET domain containing 2
SFN stratifin
SGPL1 sphingosine-1-phosphate lyase 1
SHH sonic hedgehog
SHOX2 short stature homeobox 2
SIM2 single-minded family bHLH transcription factor 2
SIX1 SIX homeobox 1
SIX3 SIX homeobox 3
SLC32A1 solute carrier family 32 (GABA vesicular transporter), member 1
SLC39A1 solute carrier family 39 (zinc transporter), member 1
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
SMAD1 SMAD family member 1
SMAD2 SMAD family member 2
SMAD5 SMAD family member 5
SMAD7 SMAD family member 7
SMG1 SMG1 phosphatidylinositol 3-kinase-related kinase
SMO smoothened, frizzled class receptor
SNAI2 snail family zinc finger 2
SOX11 SRY (sex determining region Y)-box 11
SOX5 SRY (sex determining region Y)-box 5
SOX9 SRY (sex determining region Y)-box 9
SP3 Sp3 transcription factor
SP6 Sp6 transcription factor
SPRY2 sprouty homolog 2 (Drosophila)
STAG1 stromal antigen 1
STK11 serine/threonine kinase 11
SUPV3L1 suppressor of var1, 3-like 1 (S. cerevisiae)
TBC1D32 TBC1 domain family, member 32
TBX1 T-box 1
TBX10 T-box 10
TBX2 T-box 2
TBX3 T-box 3
TCF4 transcription factor 4
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box)
TCOF1 Treacher Collins-Franceschetti syndrome 1
TDG thymine-DNA glycosylase
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
TMEM107 transmembrane protein 107
TP63 tumor protein p63
TRPM6 transient receptor potential cation channel, subfamily M, member 6
TSHZ1 teashirt zinc finger homeobox 1
TTN titin
TULP3 tubby like protein 3
TWSG1 twisted gastrulation BMP signaling modulator 1
UBR5 ubiquitin protein ligase E3 component n-recognin 5
UHRF1 ubiquitin-like with PHD and ring finger domains 1
VANGL2 VANGL planar cell polarity protein 2
VCL vinculin
VEGFA vascular endothelial growth factor A
VEZF1 vascular endothelial zinc finger 1
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
WDR19 WD repeat domain 19
ZEB1 zinc finger E-box binding homeobox 1
ZEB2 zinc finger E-box binding homeobox 2
ZMIZ1 zinc finger, MIZ-type containing 1