synostosis involving bones of the hand Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormal union between bones or parts of bones of the hand. (Human Phenotype Ontology, HP_0004278)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004278
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Genes

35 genes associated with the synostosis involving bones of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ATP7A ATPase, Cu++ transporting, alpha polypeptide
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
BMPR1B bone morphogenetic protein receptor, type IB
CHSY1 chondroitin sulfate synthase 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FBLN1 fibulin 1
FGF16 fibroblast growth factor 16
FGF9 fibroblast growth factor 9
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
HOXD13 homeobox D13
IHH indian hedgehog
LRP4 low density lipoprotein receptor-related protein 4
NOG noggin
PAX3 paired box 3
PITX1 paired-like homeodomain 1
POR P450 (cytochrome) oxidoreductase
PTDSS1 phosphatidylserine synthase 1
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
ROR2 receptor tyrosine kinase-like orphan receptor 2
SALL4 spalt-like transcription factor 4
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SMOC1 SPARC related modular calcium binding 1
SULF1 sulfatase 1
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)