abnormality of the metacarpal bones Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the metacarpal bones. (Human Phenotype Ontology, HP_0001163)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001163
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Genes

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

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACVR1 activin A receptor, type I
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTSL2 ADAMTS-like 2
ARHGAP31 Rho GTPase activating protein 31
ARID1B AT rich interactive domain 1B (SWI1-like)
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
BMPR1B bone morphogenetic protein receptor, type IB
C5ORF42 chromosome 5 open reading frame 42
CANT1 calcium activated nucleotidase 1
CD96 CD96 molecule
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CHSY1 chondroitin sulfate synthase 1
CLCN7 chloride channel, voltage-sensitive 7
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
COL9A3 collagen, type IX, alpha 3
COMP cartilage oligomeric matrix protein
DCHS1 dachsous cadherin-related 1
DDR2 discoidin domain receptor tyrosine kinase 2
DHCR7 7-dehydrocholesterol reductase
DOCK6 dedicator of cytokinesis 6
DYM dymeclin
EIF4A3 eukaryotic translation initiation factor 4A3
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
FAM111A family with sequence similarity 111, member A
FAT4 FAT atypical cadherin 4
FBLN1 fibulin 1
FBN1 fibrillin 1
FERMT1 fermitin family member 1
FGF16 fibroblast growth factor 16
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
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
GLB1 galactosidase, beta 1
GLI3 GLI family zinc finger 3
GNAS GNAS complex locus
GNAS-AS1 GNAS antisense RNA 1
GPX4 glutathione peroxidase 4
GUSB glucuronidase, beta
HDAC4 histone deacetylase 4
HDAC6 histone deacetylase 6
HDAC8 histone deacetylase 8
HHAT hedgehog acyltransferase
HOXA13 homeobox A13
HOXD13 homeobox D13
IFT80 intraflagellar transport 80
IHH indian hedgehog
IMPAD1 inositol monophosphatase domain containing 1
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KIF22 kinesin family member 22
KIF7 kinesin family member 7
LBR lamin B receptor
LMBR1 limb development membrane protein 1
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MIPOL1 mirror-image polydactyly 1
MKKS McKusick-Kaufman syndrome
MMP2 matrix metallopeptidase 2
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NIPBL Nipped-B homolog (Drosophila)
NOG noggin
NOTCH1 notch 1
NPR2 natriuretic peptide receptor 2
OFD1 oral-facial-digital syndrome 1
P3H1 prolyl 3-hydroxylase 1
PCNT pericentrin
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE4D phosphodiesterase 4D, cAMP-specific
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PEX7 peroxisomal biogenesis factor 7
PHYH phytanoyl-CoA 2-hydroxylase
POC1A POC1 centriolar protein A
PORCN porcupine homolog (Drosophila)
PRG4 proteoglycan 4
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTCH1 patched 1
PTCH2 patched 2
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
RAB33B RAB33B, member RAS oncogene family
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD21 RAD21 homolog (S. pombe)
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RECQL4 RecQ protein-like 4
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX2 runt-related transcription factor 2
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SCARF2 scavenger receptor class F, member 2
SETBP1 SET binding protein 1
SH3PXD2B SH3 and PX domains 2B
SHH sonic hedgehog
SHOX short stature homeobox
SIL1 SIL1 nucleotide exchange factor
SIX6 SIX homeobox 6
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMOC1 SPARC related modular calcium binding 1
STX16 syntaxin 16
SUFU suppressor of fused homolog (Drosophila)
SULF1 sulfatase 1
TBX3 T-box 3
TBX5 T-box 5
TCF12 transcription factor 12
TCTN3 tectonic family member 3
TMEM216 transmembrane protein 216
TP63 tumor protein p63
TRPS1 trichorhinophalangeal syndrome I
TWIST1 twist family bHLH transcription factor 1
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WNT7A wingless-type MMTV integration site family, member 7A
XYLT1 xylosyltransferase I