abnormal femur morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the long bone of the thigh (Mammalian Phenotype Ontology, MP_0000559)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000559
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Genes

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

Symbol Name
ACAN aggrecan
ACP5 acid phosphatase 5, tartrate resistant
ACVR1 activin A receptor, type I
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
ANKH ANKH inorganic pyrophosphate transport regulator
BGN biglycan
BMP5 bone morphogenetic protein 5
CHPF chondroitin polymerizing factor
CLEC2D C-type lectin domain family 2, member D
CNN1 calponin 1, basic, smooth muscle
COL10A1 collagen, type X, 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
CSF1 colony stimulating factor 1 (macrophage)
CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1
CST5 cystatin D
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
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
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FAM20C family with sequence similarity 20, member C
FGF23 fibroblast growth factor 23
FGF9 fibroblast growth factor 9
FGFR3 fibroblast growth factor receptor 3
FOXC1 forkhead box C1
FRZB frizzled-related protein
FSHR follicle stimulating hormone receptor
GALC galactosylceramidase
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
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
GSC goosecoid homeobox
HELLS helicase, lymphoid-specific
HOXC10 homeobox C10
HSPG2 heparan sulfate proteoglycan 2
IBSP integrin-binding sialoprotein
IDUA iduronidase, alpha-L-
IFT172 intraflagellar transport 172
IGFALS insulin-like growth factor binding protein, acid labile subunit
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
IRS1 insulin receptor substrate 1
ITGA10 integrin, alpha 10
JDP2 Jun dimerization protein 2
KL klotho
LEP leptin
LEPR leptin receptor
LRP5 low density lipoprotein receptor-related protein 5
LRRK1 leucine-rich repeat kinase 1
MC3R melanocortin 3 receptor
MIR140 microRNA 140
MMP13 matrix metallopeptidase 13
MMP9 matrix metallopeptidase 9
MSTN myostatin
MSX2 msh homeobox 2
NABP2 nucleic acid binding protein 2
NBR1 neighbor of BRCA1 gene 1
NLRP3 NLR family, pyrin domain containing 3
NOS3 nitric oxide synthase 3 (endothelial cell)
NOV nephroblastoma overexpressed
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
PCOLCE procollagen C-endopeptidase enhancer
PCSK5 proprotein convertase subtilisin/kexin type 5
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
POSTN periostin, osteoblast specific factor
PRKD3 protein kinase D3
PRKG2 protein kinase, cGMP-dependent, type II
PTHLH parathyroid hormone-like hormone
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN2 protein tyrosine phosphatase, non-receptor type 2
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL38 ribosomal protein L38
RUNX2 runt-related transcription factor 2
SLC13A1 solute carrier family 13 (sodium/sulfate symporter), member 1
SLC39A14 solute carrier family 39 (zinc transporter), member 14
SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SOCS2 suppressor of cytokine signaling 2
SOST sclerostin
SP8 Sp8 transcription factor
TBX15 T-box 15
TBX4 T-box 4
TGFB2 transforming growth factor, beta 2
TGFBR3 transforming growth factor, beta receptor III
THBS3 thrombospondin 3
THRB thyroid hormone receptor, beta
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TPO thyroid peroxidase
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TWSG1 twisted gastrulation BMP signaling modulator 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VKORC1 vitamin K epoxide reductase complex, subunit 1
ZMPSTE24 zinc metallopeptidase STE24