elbow dislocation Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet. (Human Phenotype Ontology, HP_0003042)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003042
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Genes

56 genes associated with the elbow 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
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