abnormal snout morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the anterior facial part of the face or muzzle containing the oral and nasal regions (Mammalian Phenotype Ontology, MP_0000443)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000443
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
ACAN aggrecan
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6
AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
ALX4 ALX homeobox 4
APAF1 apoptotic peptidase activating factor 1
ARID5B AT rich interactive domain 5B (MRF1-like)
ARSB arylsulfatase B
ASPH aspartate beta-hydroxylase
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCL2 B-cell CLL/lymphoma 2
BHD Beukes familial hip dysplasia
BMP5 bone morphogenetic protein 5
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CBS cystathionine-beta-synthase
CDK2AP1 cyclin-dependent kinase 2 associated protein 1
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CHD7 chromodomain helicase DNA binding protein 7
CHUK conserved helix-loop-helix ubiquitous kinase
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
CREBBP CREB binding protein
CSF1 colony stimulating factor 1 (macrophage)
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DAAM2 dishevelled associated activator of morphogenesis 2
DDR2 discoidin domain receptor tyrosine kinase 2
DLG1 discs, large homolog 1 (Drosophila)
DLX5 distal-less homeobox 5
DLX6 distal-less homeobox 6
DNAH5 dynein, axonemal, heavy chain 5
DNAI1 dynein, axonemal, intermediate chain 1
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DSC1 desmocollin 1
E2F4 E2F transcription factor 4, p107/p130-binding
EGFR epidermal growth factor receptor
EXOC3L2 exocyst complex component 3-like 2
FBLN5 fibulin 5
FBXO11 F-box protein 11
FES FES proto-oncogene, tyrosine kinase
FGF6 fibroblast growth factor 6
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXC1 forkhead box C1
FREM1 FRAS1 related extracellular matrix 1
FREM2 FRAS1 related extracellular matrix protein 2
GJA1 gap junction protein, alpha 1, 43kDa
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUSB glucuronidase, beta
HAPLN1 hyaluronan and proteoglycan link protein 1
HESX1 HESX homeobox 1
HIC1 hypermethylated in cancer 1
HRAS Harvey rat sarcoma viral oncogene homolog
HSPG2 heparan sulfate proteoglycan 2
HYAL2 hyaluronoglucosaminidase 2
IDUA iduronidase, alpha-L-
IFT172 intraflagellar transport 172
IGF2BP1 insulin-like growth factor 2 mRNA binding protein 1
IHH indian hedgehog
INPPL1 inositol polyphosphate phosphatase-like 1
IRF6 interferon regulatory factor 6
ITGB1BP1 integrin beta 1 binding protein 1
KDF1 keratinocyte differentiation factor 1
KDM4B lysine (K)-specific demethylase 4B
KMT2A lysine (K)-specific methyltransferase 2A
LEF1 lymphoid enhancer-binding factor 1
LMNA lamin A/C
LMO4 LIM domain only 4
LPAR1 lysophosphatidic acid receptor 1
LRIG3 leucine-rich repeats and immunoglobulin-like domains 3
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
MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2
MIA3 melanoma inhibitory activity family, member 3
MIR140 microRNA 140
MKS1 Meckel syndrome, type 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MSX1 msh homeobox 1
NABP2 nucleic acid binding protein 2
NEK1 NIMA-related kinase 1
NIPBL Nipped-B homolog (Drosophila)
NPR2 natriuretic peptide receptor 2
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NXN nucleoredoxin
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OSTM1 osteopetrosis associated transmembrane protein 1
OTX2 orthodenticle homeobox 2
PAX6 paired box 6
PAX7 paired box 7
PBX1 pre-B-cell leukemia homeobox 1
PDS5B PDS5 cohesin associated factor B
PFAS phosphoribosylformylglycinamidine synthase
PRDM16 PR domain containing 16
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
PRRX1 paired related homeobox 1
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
PTK7 protein tyrosine kinase 7 (inactive)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAI1 retinoic acid induced 1
RERE arginine-glutamic acid dipeptide (RE) repeats
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL38 ribosomal protein L38
RYK receptor-like tyrosine kinase
SATB2 SATB homeobox 2
SCHIP1 schwannomin interacting protein 1
SETD5 SET domain containing 5
SFN stratifin
SH3PXD2B SH3 and PX domains 2B
SIRT1 sirtuin 1
SLC25A21 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SMC3 structural maintenance of chromosomes 3
ST14 suppression of tumorigenicity 14 (colon carcinoma)
TBC1D32 TBC1 domain family, member 32
TBX15 T-box 15
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGIF1 TGFB-induced factor homeobox 1
TIPARP TCDD-inducible poly(ADP-ribose) polymerase
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TRIP11 thyroid hormone receptor interactor 11
TRPM6 transient receptor potential cation channel, subfamily M, member 6
TUBB2B tubulin, beta 2B class IIb
TWIST2 twist family bHLH transcription factor 2
VANGL2 VANGL planar cell polarity protein 2
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae)
WNT5A wingless-type MMTV integration site family, member 5A
XYLT1 xylosyltransferase I
ZC3HC1 zinc finger, C3HC-type containing 1