abnormality of the scapula Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Any abnormality of the scapula, also known as the shoulder blade. (Human Phenotype Ontology, HP_0000782)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000782
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Genes

72 genes associated with the abnormality of the scapula phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
BICD2 bicaudal D homolog 2 (Drosophila)
BIN1 bridging integrator 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
C19ORF12 chromosome 19 open reading frame 12
CAPN3 calpain 3, (p94)
CCDC8 coiled-coil domain containing 8
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
CUL7 cullin 7
DES desmin
DYM dymeclin
EFNB1 ephrin-B1
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
EYA1 EYA transcriptional coactivator and phosphatase 1
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
FHL1 four and a half LIM domains 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNA filamin A, alpha
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPX4 glutathione peroxidase 4
GSC goosecoid homeobox
HNF1B HNF1 homeobox B
HSPG2 heparan sulfate proteoglycan 2
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
LBR lamin B receptor
LHX1 LIM homeobox 1
LMNA lamin A/C
LMX1B LIM homeobox transcription factor 1, beta
MEOX1 mesenchyme homeobox 1
MYH7 myosin, heavy chain 7, cardiac muscle, beta
NPR2 natriuretic peptide receptor 2
NSDHL NAD(P) dependent steroid dehydrogenase-like
OBSL1 obscurin-like 1
ORC1 origin recognition complex, subunit 1
PAX1 paired box 1
PAX3 paired box 3
PCNT pericentrin
PTCH1 patched 1
PTCH2 patched 2
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RIPK4 receptor-interacting serine-threonine kinase 4
RUNX2 runt-related transcription factor 2
SCARF2 scavenger receptor class F, member 2
SEPT9 septin 9
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SOST sclerostin
SOX9 SRY (sex determining region Y)-box 9
SUFU suppressor of fused homolog (Drosophila)
TBX15 T-box 15
TBX3 T-box 3
TBX5 T-box 5
TBX6 T-box 6
THRB thyroid hormone receptor, beta
TMCO1 transmembrane and coiled-coil domains 1
TNPO3 transportin 3
TPM2 tropomyosin 2 (beta)
TRIP11 thyroid hormone receptor interactor 11
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
VCP valosin containing protein
WDR35 WD repeat domain 35