abnormality of the wrist Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormality of the wrist, the structure connecting the hand and the forearm. (Human Phenotype Ontology, HP_0003019)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003019
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Genes

84 genes associated with the abnormality of the wrist phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADAMTSL2 ADAMTS-like 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
ASXL1 additional sex combs like transcriptional regulator 1
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
CLCN5 chloride channel, voltage-sensitive 5
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
COMP cartilage oligomeric matrix protein
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
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
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 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
GALNS galactosamine (N-acetyl)-6-sulfatase
GDF5 growth differentiation factor 5
GJA1 gap junction protein, alpha 1, 43kDa
GLB1 galactosidase, beta 1
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPC3 glypican 3
HOXA13 homeobox A13
HOXD13 homeobox D13
HSPG2 heparan sulfate proteoglycan 2
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
MIPOL1 mirror-image polydactyly 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NIN ninein (GSK3B interacting protein)
NOG noggin
NOTCH2 notch 2
OCRL oculocerebrorenal syndrome of Lowe
PAX3 paired box 3
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PITX1 paired-like homeodomain 1
POR P450 (cytochrome) oxidoreductase
PRG4 proteoglycan 4
PTEN phosphatase and tensin homolog
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
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
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
TBX15 T-box 15
TBX3 T-box 3
TBX5 T-box 5
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TNXB tenascin XB
TPM2 tropomyosin 2 (beta)
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TUBB3 tubulin, beta 3 class III
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WNT7A wingless-type MMTV integration site family, member 7A
XYLT1 xylosyltransferase I