sprengel anomaly Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other). (Human Phenotype Ontology, HP_0000912)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000912
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Genes

36 genes associated with the sprengel anomaly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
BRAF B-Raf proto-oncogene, serine/threonine kinase
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
EFNB1 ephrin-B1
EYA1 EYA transcriptional coactivator and phosphatase 1
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GPX4 glutathione peroxidase 4
HNF1B HNF1 homeobox B
HSPG2 heparan sulfate proteoglycan 2
LHX1 LIM homeobox 1
LMX1B LIM homeobox transcription factor 1, beta
MEOX1 mesenchyme homeobox 1
NPR2 natriuretic peptide receptor 2
NSDHL NAD(P) dependent steroid dehydrogenase-like
OBSL1 obscurin-like 1
PAX1 paired box 1
PAX3 paired box 3
PTCH1 patched 1
PTCH2 patched 2
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
SEPT9 septin 9
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SOX9 SRY (sex determining region Y)-box 9
SUFU suppressor of fused homolog (Drosophila)
TBX3 T-box 3
TBX5 T-box 5
TBX6 T-box 6
THRB thyroid hormone receptor, beta
TMCO1 transmembrane and coiled-coil domains 1