aplasia/hypoplasia of the clavicles Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Absence or underdevelopment of the clavicles (collar bones). (Human Phenotype Ontology, HP_0006710)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0006710
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Genes

21 genes associated with the aplasia/hypoplasia of the clavicles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ATP7A ATPase, Cu++ transporting, alpha polypeptide
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
DCHS1 dachsous cadherin-related 1
EFNB1 ephrin-B1
FAT4 FAT atypical cadherin 4
FGFR2 fibroblast growth factor receptor 2
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNA filamin A, alpha
HOXD13 homeobox D13
IDUA iduronidase, alpha-L-
LMNA lamin A/C
MSX2 msh homeobox 2
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NSDHL NAD(P) dependent steroid dehydrogenase-like
PORCN porcupine homolog (Drosophila)
RUNX2 runt-related transcription factor 2
TBX3 T-box 3
TRIP11 thyroid hormone receptor interactor 11
WNT7A wingless-type MMTV integration site family, member 7A
XYLT1 xylosyltransferase I
ZMPSTE24 zinc metallopeptidase STE24