abnormal long bone metaphysis morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the conical section of bone between the epiphysis and diaphysis of the long bones; this section grows during childhood and juvenile stages and is completely ossified in adults (Mammalian Phenotype Ontology, MP_0000133)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000133
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33 gene mutations causing the abnormal long bone metaphysis morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACP5 acid phosphatase 5, tartrate resistant
ALPL alkaline phosphatase, liver/bone/kidney
ANTXR1 anthrax toxin receptor 1
BGN biglycan
CAV1 caveolin 1, caveolae protein, 22kDa
COL11A1 collagen, type XI, alpha 1
COL2A1 collagen, type II, alpha 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
DMP1 dentin matrix acidic phosphoprotein 1
FGF23 fibroblast growth factor 23
FGFR3 fibroblast growth factor receptor 3
FOS FBJ murine osteosarcoma viral oncogene homolog
GALC galactosylceramidase
HAPLN1 hyaluronan and proteoglycan link protein 1
HCST hematopoietic cell signal transducer
HSPG2 heparan sulfate proteoglycan 2
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
LRRK1 leucine-rich repeat kinase 1
LTBP3 latent transforming growth factor beta binding protein 3
MITF microphthalmia-associated transcription factor
PHEX phosphate regulating endopeptidase homolog, X-linked
PTHLH parathyroid hormone-like hormone
PTPRC protein tyrosine phosphatase, receptor type, C
RECQL4 RecQ protein-like 4
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SUMF1 sulfatase modifying factor 1
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor