synostosis of joints Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The abnormal fusion of neighboring bones across a joint. (Human Phenotype Ontology, HP_0100240)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0100240
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Genes

116 genes associated with the synostosis of joints phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ACVR1 activin A receptor, type I
ANKRD11 ankyrin repeat domain 11
ATP7A ATPase, Cu++ transporting, alpha polypeptide
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GAT3 beta-1,3-glucuronyltransferase 3
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
BMPR1B bone morphogenetic protein receptor, type IB
BRAF B-Raf proto-oncogene, serine/threonine kinase
CANT1 calcium activated nucleotidase 1
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHSY1 chondroitin sulfate synthase 1
CLIP2 CAP-GLY domain containing linker protein 2
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
COLEC11 collectin sub-family member 11
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
DHODH dihydroorotate dehydrogenase (quinone)
DLL3 delta-like 3 (Drosophila)
ELN elastin
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
FGF10 fibroblast growth factor 10
FGF16 fibroblast growth factor 16
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FKRP fukutin related protein
FLNA filamin A, alpha
FLNB filamin B, beta
FNBP4 formin binding protein 4
GDF3 growth differentiation factor 3
GDF5 growth differentiation factor 5
GDF6 growth differentiation factor 6
GSC goosecoid homeobox
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HDAC8 histone deacetylase 8
HES7 hes family bHLH transcription factor 7
HGD homogentisate 1,2-dioxygenase
HOXA11 homeobox A11
HOXA13 homeobox A13
HOXD13 homeobox D13
IHH indian hedgehog
IL1RN interleukin 1 receptor antagonist
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KRAS Kirsten rat sarcoma viral oncogene homolog
LIMK1 LIM domain kinase 1
LRP4 low density lipoprotein receptor-related protein 4
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MEOX1 mesenchyme homeobox 1
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
NIPBL Nipped-B homolog (Drosophila)
NOG noggin
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
OFD1 oral-facial-digital syndrome 1
PAX3 paired box 3
PCNT pericentrin
PIEZO2 piezo-type mechanosensitive ion channel component 2
PITX1 paired-like homeodomain 1
POR P450 (cytochrome) oxidoreductase
PTCH1 patched 1
PTCH2 patched 2
PTDSS1 phosphatidylserine synthase 1
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PUF60 poly-U binding splicing factor 60KDa
RAD21 RAD21 homolog (S. pombe)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAPSN receptor-associated protein of the synapse
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
RIPK4 receptor-interacting serine-threonine kinase 4
RIT1 Ras-like without CAAX 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SETBP1 SET binding protein 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SMAD4 SMAD family member 4
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMOC1 SPARC related modular calcium binding 1
SOS1 son of sevenless homolog 1 (Drosophila)
SOX2 SRY (sex determining region Y)-box 2
SUFU suppressor of fused homolog (Drosophila)
SULF1 sulfatase 1
TBL2 transducin (beta)-like 2
TBX22 T-box 22
TBX5 T-box 5
TBX6 T-box 6
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TPM2 tropomyosin 2 (beta)
TWIST1 twist family bHLH transcription factor 1
WNT7A wingless-type MMTV integration site family, member 7A
XYLT1 xylosyltransferase I