radioulnar synostosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_9827)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002974
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Genes

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

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
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
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
COLEC11 collectin sub-family member 11
DHODH dihydroorotate dehydrogenase (quinone)
ELN elastin
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HDAC8 histone deacetylase 8
HOXA11 homeobox A11
HOXD13 homeobox D13
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)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
PIEZO2 piezo-type mechanosensitive ion channel component 2
POR P450 (cytochrome) oxidoreductase
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAD21 RAD21 homolog (S. pombe)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RFC2 replication factor C (activator 1) 2, 40kDa
RIT1 Ras-like without CAAX 1
SALL4 spalt-like transcription factor 4
SETBP1 SET binding protein 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SOS1 son of sevenless homolog 1 (Drosophila)
TBL2 transducin (beta)-like 2
TBX22 T-box 22
TBX5 T-box 5
TWIST1 twist family bHLH transcription factor 1
XYLT1 xylosyltransferase I