limited elbow movement Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002996
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Genes

63 genes associated with the limited elbow movement phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATR ATR serine/threonine kinase
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLCF1 cardiotrophin-like cytokine factor 1
COL2A1 collagen, type II, alpha 1
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COLEC11 collectin sub-family member 11
COMP cartilage oligomeric matrix protein
CPT2 carnitine palmitoyltransferase 2
CRLF1 cytokine receptor-like factor 1
DDR2 discoidin domain receptor tyrosine kinase 2
DES desmin
ECEL1 endothelin converting enzyme-like 1
EMD emerin
ERCC6 excision repair cross-complementation group 6
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FBN2 fibrillin 2
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
GJB2 gap junction protein, beta 2, 26kDa
GPC6 glypican 6
HDAC8 histone deacetylase 8
HOXA11 homeobox A11
HRAS Harvey rat sarcoma viral oncogene homolog
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
IFITM5 interferon induced transmembrane protein 5
LARGE like-glycosyltransferase
LIFR leukemia inhibitory factor receptor alpha
LMNA lamin A/C
LMX1B LIM homeobox transcription factor 1, beta
MATN3 matrilin 3
MMP13 matrix metallopeptidase 13
NIPBL Nipped-B homolog (Drosophila)
NPR2 natriuretic peptide receptor 2
PCNT pericentrin
PITX1 paired-like homeodomain 1
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTDSS1 phosphatidylserine synthase 1
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PYCR1 pyrroline-5-carboxylate reductase 1
RECQL4 RecQ protein-like 4
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
SALL4 spalt-like transcription factor 4
SCARF2 scavenger receptor class F, member 2
SF3B4 splicing factor 3b, subunit 4, 49kDa
SHOX short stature homeobox
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SMC3 structural maintenance of chromosomes 3
SRD5A3 steroid 5 alpha-reductase 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TPM2 tropomyosin 2 (beta)
TRPV4 transient receptor potential cation channel, subfamily V, member 4
WNT7A wingless-type MMTV integration site family, member 7A