broad long bones Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately. (Human Phenotype Ontology, HP_0005622)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0005622
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Genes

41 genes associated with the broad long bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACAN aggrecan
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GAT3 beta-1,3-glucuronyltransferase 3
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
CREBBP CREB binding protein
DDR2 discoidin domain receptor tyrosine kinase 2
EP300 E1A binding protein p300
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FBN1 fibrillin 1
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FLNA filamin A, alpha
FLNB filamin B, beta
G6PC3 glucose 6 phosphatase, catalytic, 3
GJA1 gap junction protein, alpha 1, 43kDa
GLI3 GLI family zinc finger 3
GPC3 glypican 3
GPC6 glypican 6
HOXD13 homeobox D13
IFT122 intraflagellar transport 122
KIF22 kinesin family member 22
MED12 mediator complex subunit 12
MEGF8 multiple EGF-like-domains 8
NOG noggin
NPR2 natriuretic peptide receptor 2
RAB33B RAB33B, member RAS oncogene family
RBM8A RNA binding motif protein 8A
ROR2 receptor tyrosine kinase-like orphan receptor 2
SALL1 spalt-like transcription factor 1
SHOX short stature homeobox
SNIP1 Smad nuclear interacting protein 1
SUMF1 sulfatase modifying factor 1
USP9X ubiquitin specific peptidase 9, X-linked
WDR19 WD repeat domain 19
WNT5A wingless-type MMTV integration site family, member 5A
XYLT1 xylosyltransferase I