tarsal synostosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones). (Human Phenotype Ontology, HP_0008368)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0008368
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Genes

28 genes associated with the tarsal synostosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BMPR1B bone morphogenetic protein receptor, type IB
CHSY1 chondroitin sulfate synthase 1
FBLN1 fibulin 1
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
FLNB filamin B, beta
FNBP4 formin binding protein 4
GDF5 growth differentiation factor 5
HOXA13 homeobox A13
MIPOL1 mirror-image polydactyly 1
MKKS McKusick-Kaufman syndrome
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NOG noggin
OFD1 oral-facial-digital syndrome 1
POR P450 (cytochrome) oxidoreductase
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SMOC1 SPARC related modular calcium binding 1
SULF1 sulfatase 1
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TPM2 tropomyosin 2 (beta)
WNT7A wingless-type MMTV integration site family, member 7A