abnormal hindlimb morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the projecting caudal-most paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the legs or back limbs in mammalian species (Mammalian Phenotype Ontology, MP_0000556)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000556
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Genes

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

Symbol Name
ACAN aggrecan
ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3
ACP5 acid phosphatase 5, tartrate resistant
ACVR1 activin A receptor, type I
ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6
ADGRF5 adhesion G protein-coupled receptor F5
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGRN agrin
ALX4 ALX homeobox 4
ANKH ANKH inorganic pyrophosphate transport regulator
ASCC3 activating signal cointegrator 1 complex subunit 3
ATN1 atrophin 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
AXIN1 axin 1
BAG3 BCL2-associated athanogene 3
BBS5 Bardet-Biedl syndrome 5
BGN biglycan
BMP5 bone morphogenetic protein 5
CBFB core-binding factor, beta subunit
CD44 CD44 molecule (Indian blood group)
CD47 CD47 molecule
CENPJ centromere protein J
CHD7 chromodomain helicase DNA binding protein 7
CHPF chondroitin polymerizing factor
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CHUK conserved helix-loop-helix ubiquitous kinase
CLEC2D C-type lectin domain family 2, member D
CNN1 calponin 1, basic, smooth muscle
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL12A1 collagen, type XII, alpha 1
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
COL9A1 collagen, type IX, alpha 1
COMP cartilage oligomeric matrix protein
CREB3L1 cAMP responsive element binding protein 3-like 1
CSF1 colony stimulating factor 1 (macrophage)
CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1
CST5 cystatin D
CTGF connective tissue growth factor
CTSK cathepsin K
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1
DACT1 dishevelled-binding antagonist of beta-catenin 1
DKK1 dickkopf WNT signaling pathway inhibitor 1
DLX5 distal-less homeobox 5
DLX6 distal-less homeobox 6
DMP1 dentin matrix acidic phosphoprotein 1
DNASE1L2 deoxyribonuclease I-like 2
DRD2 dopamine receptor D2
DYM dymeclin
EBF2 early B-cell factor 2
EGR2 early growth response 2
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ELMOD1 ELMO/CED-12 domain containing 1
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FAM134C family with sequence similarity 134, member C
FAM151B family with sequence similarity 151, member B
FAM20C family with sequence similarity 20, member C
FAM63A family with sequence similarity 63, member A
FBN1 fibrillin 1
FGF10 fibroblast growth factor 10
FGF18 fibroblast growth factor 18
FGF21 fibroblast growth factor 21
FGF23 fibroblast growth factor 23
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLNB filamin B, beta
FMN1 formin 1
FOXC1 forkhead box C1
FRZB frizzled-related protein
FSHR follicle stimulating hormone receptor
FSTL1 follistatin-like 1
FZD3 frizzled class receptor 3
GALC galactosylceramidase
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GDF11 growth differentiation factor 11
GDF5 growth differentiation factor 5
GGT1 gamma-glutamyltransferase 1
GHR growth hormone receptor
GHRHR growth hormone releasing hormone receptor
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GNAS GNAS complex locus
GPER1 G protein-coupled estrogen receptor 1
GPR87 G protein-coupled receptor 87
GREM1 gremlin 1, DAN family BMP antagonist
GRHL3 grainyhead-like 3 (Drosophila)
GSC goosecoid homeobox
HELLS helicase, lymphoid-specific
HIC1 hypermethylated in cancer 1
HOXA11 homeobox A11
HOXA13 homeobox A13
HOXC10 homeobox C10
HOXD12 homeobox D12
HSPG2 heparan sulfate proteoglycan 2
IBSP integrin-binding sialoprotein
IDUA iduronidase, alpha-L-
IFT172 intraflagellar transport 172
IGF2 insulin-like growth factor 2
IGFALS insulin-like growth factor binding protein, acid labile subunit
IHH indian hedgehog
IL10 interleukin 10
IL6ST interleukin 6 signal transducer
INPP4B inositol polyphosphate-4-phosphatase, type II, 105kDa
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
IRAK3 interleukin-1 receptor-associated kinase 3
IRF6 interferon regulatory factor 6
IRS1 insulin receptor substrate 1
ITGA10 integrin, alpha 10
JDP2 Jun dimerization protein 2
KCNJ9 potassium channel, inwardly rectifying subfamily J, member 9
KDF1 keratinocyte differentiation factor 1
KIAA1715 KIAA1715
KL klotho
KLF10 Kruppel-like factor 10
LBX1 ladybird homeobox 1
LEP leptin
LEPR leptin receptor
LGI4 leucine-rich repeat LGI family, member 4
LIMK2 LIM domain kinase 2
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
LRP6 low density lipoprotein receptor-related protein 6
LRRK1 leucine-rich repeat kinase 1
LTA lymphotoxin alpha
MAP1B microtubule-associated protein 1B
MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4
MAPKAPK2 mitogen-activated protein kinase-activated protein kinase 2
MATN3 matrilin 3
MC3R melanocortin 3 receptor
MEX3C mex-3 RNA binding family member C
MIB2 mindbomb E3 ubiquitin protein ligase 2
MIR140 microRNA 140
MMP13 matrix metallopeptidase 13
MMP9 matrix metallopeptidase 9
MSTN myostatin
MSX2 msh homeobox 2
MXRA7 matrix-remodelling associated 7
MYSM1 Myb-like, SWIRM and MPN domains 1
NABP2 nucleic acid binding protein 2
NBR1 neighbor of BRCA1 gene 1
NFXL1 nuclear transcription factor, X-box binding-like 1
NLRP3 NLR family, pyrin domain containing 3
NOS3 nitric oxide synthase 3 (endothelial cell)
NOV nephroblastoma overexpressed
NPPC natriuretic peptide C
NPR2 natriuretic peptide receptor 2
OCLN occludin
OSTM1 osteopetrosis associated transmembrane protein 1
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7
PAPPA2 pappalysin 2
PAX3 paired box 3
PCOLCE procollagen C-endopeptidase enhancer
PCSK5 proprotein convertase subtilisin/kexin type 5
PGR progesterone receptor
PHEX phosphate regulating endopeptidase homolog, X-linked
PHOSPHO1 phosphatase, orphan 1
PIP4K2B phosphatidylinositol-5-phosphate 4-kinase, type II, beta
PITX1 paired-like homeodomain 1
PKDCC protein kinase domain containing, cytoplasmic
POSTN periostin, osteoblast specific factor
PRDM4 PR domain containing 4
PRKD3 protein kinase D3
PRKG2 protein kinase, cGMP-dependent, type II
PRPSAP2 phosphoribosyl pyrophosphate synthetase-associated protein 2
PRRX1 paired related homeobox 1
PSEN1 presenilin 1
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN2 protein tyrosine phosphatase, non-receptor type 2
PTPRE protein tyrosine phosphatase, receptor type, E
RAB23 RAB23, member RAS oncogene family
RBL2 retinoblastoma-like 2
RCAN2 regulator of calcineurin 2
RIPK4 receptor-interacting serine-threonine kinase 4
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL38 ribosomal protein L38
RSPO2 R-spondin 2
RUNX2 runt-related transcription factor 2
RYK receptor-like tyrosine kinase
SATB2 SATB homeobox 2
SC5D sterol-C5-desaturase
SH3GL2 SH3-domain GRB2-like 2
SHH sonic hedgehog
SLC13A1 solute carrier family 13 (sodium/sulfate symporter), member 1
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC39A14 solute carrier family 39 (zinc transporter), member 14
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1
SMOC1 SPARC related modular calcium binding 1
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SOCS2 suppressor of cytokine signaling 2
SOST sclerostin
SOX13 SRY (sex determining region Y)-box 13
SOX9 SRY (sex determining region Y)-box 9
SP8 Sp8 transcription factor
SPRED2 sprouty-related, EVH1 domain containing 2
STARD10 StAR-related lipid transfer (START) domain containing 10
STAT1 signal transducer and activator of transcription 1, 91kDa
TBX15 T-box 15
TBX3 T-box 3
TBX4 T-box 4
TCF7 transcription factor 7 (T-cell specific, HMG-box)
TGFB2 transforming growth factor, beta 2
TGFBR3 transforming growth factor, beta receptor III
THBS1 thrombospondin 1
THBS3 thrombospondin 3
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TNF tumor necrosis factor
TNFAIP1 tumor necrosis factor, alpha-induced protein 1 (endothelial)
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TP53 tumor protein p53
TP63 tumor protein p63
TPO thyroid peroxidase
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TWSG1 twisted gastrulation BMP signaling modulator 1
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VKORC1 vitamin K epoxide reductase complex, subunit 1
WDR19 WD repeat domain 19
WNT3A wingless-type MMTV integration site family, member 3A
WNT7A wingless-type MMTV integration site family, member 7A
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
XYLT1 xylosyltransferase I
YIPF1 Yip1 domain family, member 1
ZBTB16 zinc finger and BTB domain containing 16
ZEB1 zinc finger E-box binding homeobox 1
ZMPSTE24 zinc metallopeptidase STE24