abnormality of the carpal bones Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate). (Human Phenotype Ontology, HP_0001191)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001191
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Genes

56 genes associated with the abnormality of the carpal bones 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
CANT1 calcium activated nucleotidase 1
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CHSY1 chondroitin sulfate synthase 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
COMP cartilage oligomeric matrix protein
DDR2 discoidin domain receptor tyrosine kinase 2
DYM dymeclin
EBP emopamil binding protein (sterol isomerase)
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FBLN1 fibulin 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
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPC3 glypican 3
HOXA13 homeobox A13
HOXD13 homeobox D13
IHH indian hedgehog
KIF22 kinesin family member 22
LMBR1 limb development membrane protein 1
LRP4 low density lipoprotein receptor-related protein 4
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MATN3 matrilin 3
MMP2 matrix metallopeptidase 2
NIN ninein (GSK3B interacting protein)
NOG noggin
NOTCH2 notch 2
PAX3 paired box 3
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PITX1 paired-like homeodomain 1
POR P450 (cytochrome) oxidoreductase
PTH1R parathyroid hormone 1 receptor
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
RMRP RNA component of mitochondrial RNA processing endoribonuclease
ROR2 receptor tyrosine kinase-like orphan receptor 2
SALL4 spalt-like transcription factor 4
SHOX short stature homeobox
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
TBX5 T-box 5
TRPV4 transient receptor potential cation channel, subfamily V, member 4
WNT7A wingless-type MMTV integration site family, member 7A
XYLT1 xylosyltransferase I