tibial bowing Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A bending or abnormal curvature of the tibia. (Human Phenotype Ontology, HP_0002982)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002982
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Genes

20 genes associated with the tibial bowing phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLCN5 chloride channel, voltage-sensitive 5
COL10A1 collagen, type X, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
FLNA filamin A, alpha
FLNB filamin B, beta
MMP13 matrix metallopeptidase 13
P3H1 prolyl 3-hydroxylase 1
PCNT pericentrin
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PHEX phosphate regulating endopeptidase homolog, X-linked
SETBP1 SET binding protein 1
SHOX short stature homeobox
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SMOC1 SPARC related modular calcium binding 1
SOX9 SRY (sex determining region Y)-box 9
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor