short snout Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000445
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Genes

98 gene mutations causing the short snout 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
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
ALX4 ALX homeobox 4
APAF1 apoptotic peptidase activating factor 1
ARSB arylsulfatase B
ASPH aspartate beta-hydroxylase
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCL2 B-cell CLL/lymphoma 2
BMP5 bone morphogenetic protein 5
CDK2AP1 cyclin-dependent kinase 2 associated protein 1
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
DDR2 discoidin domain receptor tyrosine kinase 2
DLG1 discs, large homolog 1 (Drosophila)
DLX5 distal-less homeobox 5
DNAH5 dynein, axonemal, heavy chain 5
DNAI1 dynein, axonemal, intermediate chain 1
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
E2F4 E2F transcription factor 4, p107/p130-binding
FBLN5 fibulin 5
FBXO11 F-box protein 11
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
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
HSPG2 heparan sulfate proteoglycan 2
HYAL2 hyaluronoglucosaminidase 2
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
LMNA lamin A/C
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
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MSX1 msh homeobox 1
NEK1 NIMA-related kinase 1
NPR2 natriuretic peptide receptor 2
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OSTM1 osteopetrosis associated transmembrane protein 1
PAX6 paired box 6
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
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
PTK7 protein tyrosine kinase 7 (inactive)
RAI1 retinoic acid induced 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL38 ribosomal protein L38
RYK receptor-like tyrosine kinase
SATB2 SATB homeobox 2
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
TBC1D32 TBC1 domain family, member 32
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
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
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WNT5A wingless-type MMTV integration site family, member 5A
XYLT1 xylosyltransferase I
ZC3HC1 zinc finger, C3HC-type containing 1