synostosis of carpals/tarsals Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, navicular, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus. (Human Phenotype Ontology, HP_0100266)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0100266
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Genes

42 genes associated with the synostosis of carpals/tarsals 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
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
HOXD13 homeobox D13
LRP4 low density lipoprotein receptor-related protein 4
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
PAX3 paired box 3
PITX1 paired-like homeodomain 1
POR P450 (cytochrome) oxidoreductase
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
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