synostosis involving bones of the lower limbs Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormal union between bones or parts of bones lower limbs. (Human Phenotype Ontology, HP_0009138)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0009138
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Genes

30 genes associated with the synostosis involving bones of the lower limbs 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
FGF9 fibroblast growth factor 9
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
SALL1 spalt-like transcription factor 1
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
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