femoral bowing Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Bowing (abnormal curvature) of the femur. (Human Phenotype Ontology, HP_0002980)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002980
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Genes

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

Symbol Name
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
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
FGFR2 fibroblast growth factor receptor 2
FLNA filamin A, alpha
GDF5 growth differentiation factor 5
MAN2B1 mannosidase, alpha, class 2B, member 1
MMP13 matrix metallopeptidase 13
NEK8 NIMA-related kinase 8
P3H1 prolyl 3-hydroxylase 1
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PHEX phosphate regulating endopeptidase homolog, X-linked
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
POR P450 (cytochrome) oxidoreductase
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
SCARF2 scavenger receptor class F, member 2
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WDR60 WD repeat domain 60
WNT7A wingless-type MMTV integration site family, member 7A