hypoplastic scapulae Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Underdeveloped scapula. (Human Phenotype Ontology, HP_0000882)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000882
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18 genes associated with the hypoplastic scapulae phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
COL11A1 collagen, type XI, alpha 1
DYM dymeclin
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GSC goosecoid homeobox
NSDHL NAD(P) dependent steroid dehydrogenase-like
PCNT pericentrin
RIPK4 receptor-interacting serine-threonine kinase 4
RUNX2 runt-related transcription factor 2
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SOX9 SRY (sex determining region Y)-box 9
TBX15 T-box 15
TBX3 T-box 3
TRIP11 thyroid hormone receptor interactor 11
WDR35 WD repeat domain 35