upper extremity joint dislocation Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Displacement or malalignment of one or more joints in the upper extremity (arm). (Human Phenotype Ontology, HP_0030310)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0030310
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Genes

57 genes associated with the upper extremity joint dislocation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ASXL1 additional sex combs like transcriptional regulator 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATR ATR serine/threonine kinase
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GAT3 beta-1,3-glucuronyltransferase 3
CANT1 calcium activated nucleotidase 1
CD96 CD96 molecule
CDC6 cell division cycle 6
CDT1 chromatin licensing and DNA replication factor 1
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
COL27A1 collagen, type XXVII, alpha 1
CREBBP CREB binding protein
DYM dymeclin
ERCC1 excision repair cross-complementation group 1
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
FBN1 fibrillin 1
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
FLNB filamin B, beta
GDF5 growth differentiation factor 5
GLI3 GLI family zinc finger 3
GPC6 glypican 6
GSC goosecoid homeobox
HDAC8 histone deacetylase 8
HSPG2 heparan sulfate proteoglycan 2
IFITM5 interferon induced transmembrane protein 5
KIF22 kinesin family member 22
LRP4 low density lipoprotein receptor-related protein 4
NIPBL Nipped-B homolog (Drosophila)
NOG noggin
NOTCH2 notch 2
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
PITX1 paired-like homeodomain 1
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
RAD21 RAD21 homolog (S. pombe)
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROR2 receptor tyrosine kinase-like orphan receptor 2
SCARF2 scavenger receptor class F, member 2
SHOX short stature homeobox
SKI SKI proto-oncogene
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SOX11 SRY (sex determining region Y)-box 11
TBX15 T-box 15
TNXB tenascin XB
WNT5A wingless-type MMTV integration site family, member 5A
XYLT1 xylosyltransferase I