elbow flexion contracture Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow. (Human Phenotype Ontology, HP_0002987)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002987
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Genes

34 genes associated with the elbow flexion contracture phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ATR ATR serine/threonine kinase
B3GAT3 beta-1,3-glucuronyltransferase 3
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
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
FBN2 fibrillin 2
FLNA filamin A, alpha
GJB2 gap junction protein, beta 2, 26kDa
LARGE like-glycosyltransferase
LIFR leukemia inhibitory factor receptor alpha
LMNA lamin A/C
NIPBL Nipped-B homolog (Drosophila)
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
PYCR1 pyrroline-5-carboxylate reductase 1
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
SCARF2 scavenger receptor class F, member 2
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 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