synostosis involving bones of the upper limbs Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormal union between bones or parts of bones of the upper limbs. (Human Phenotype Ontology, HP_0100238)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0100238
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Genes

77 genes associated with the synostosis involving bones of the upper limbs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
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
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)
ELN elastin
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 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
FLNA filamin A, alpha
FLNB filamin B, beta
FNBP4 formin binding protein 4
GDF5 growth differentiation factor 5
GSC goosecoid homeobox
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HDAC8 histone deacetylase 8
HOXA11 homeobox A11
HOXA13 homeobox A13
HOXD13 homeobox D13
IHH indian hedgehog
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)
NIPBL Nipped-B homolog (Drosophila)
NOG noggin
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
PAX3 paired box 3
PIEZO2 piezo-type mechanosensitive ion channel component 2
PITX1 paired-like homeodomain 1
POR P450 (cytochrome) oxidoreductase
PTDSS1 phosphatidylserine synthase 1
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAD21 RAD21 homolog (S. pombe)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
RIT1 Ras-like without CAAX 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
SALL4 spalt-like transcription factor 4
SETBP1 SET binding protein 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SLCO5A1 solute carrier organic anion transporter family, member 5A1
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)
SULF1 sulfatase 1
TBL2 transducin (beta)-like 2
TBX22 T-box 22
TBX5 T-box 5
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TWIST1 twist family bHLH transcription factor 1
WNT7A wingless-type MMTV integration site family, member 7A
XYLT1 xylosyltransferase I