short femur Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An abnormal shortening of the femur. (Human Phenotype Ontology, HP_0003097)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003109
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Genes

80 gene mutations causing the short femur phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACAN aggrecan
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
COL10A1 collagen, type X, alpha 1
COL12A1 collagen, type XII, alpha 1
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
COMP cartilage oligomeric matrix protein
CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1
DMP1 dentin matrix acidic phosphoprotein 1
DRD2 dopamine receptor D2
DYM dymeclin
EGR2 early growth response 2
ESR1 estrogen receptor 1
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FGF23 fibroblast growth factor 23
FGF9 fibroblast growth factor 9
FGFR3 fibroblast growth factor receptor 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
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
IRS1 insulin receptor substrate 1
ITGA10 integrin, alpha 10
JDP2 Jun dimerization protein 2
KL klotho
LEP leptin
LEPR leptin receptor
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
NOS3 nitric oxide synthase 3 (endothelial cell)
NPR2 natriuretic peptide receptor 2
OSTM1 osteopetrosis associated transmembrane protein 1
PAPPA2 pappalysin 2
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
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
SLC13A1 solute carrier family 13 (sodium/sulfate symporter), member 1
SLC39A14 solute carrier family 39 (zinc transporter), member 14
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
TBX15 T-box 15
TBX4 T-box 4
THRB thyroid hormone receptor, beta
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