scapular winging Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormal protrusion of the scapula away from the surface of the back. (Human Phenotype Ontology, HP_0003691)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003691
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Genes

23 genes associated with the scapular winging phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
BICD2 bicaudal D homolog 2 (Drosophila)
BIN1 bridging integrator 1
C19ORF12 chromosome 19 open reading frame 12
CAPN3 calpain 3, (p94)
CUL7 cullin 7
DES desmin
EYA1 EYA transcriptional coactivator and phosphatase 1
FHL1 four and a half LIM domains 1
FLNA filamin A, alpha
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
LMNA lamin A/C
MYH7 myosin, heavy chain 7, cardiac muscle, beta
PAX1 paired box 1
PAX3 paired box 3
PTPN11 protein tyrosine phosphatase, non-receptor type 11
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
TNPO3 transportin 3
TPM2 tropomyosin 2 (beta)
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
VCP valosin containing protein