wormian bones Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium. (Human Phenotype Ontology, HP_0002645)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002645
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Genes

29 genes associated with the wormian bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BMP1 bone morphogenetic protein 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
CRTAP cartilage associated protein
CTSK cathepsin K
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FAM134B family with sequence similarity 134, member B
FBLN5 fibulin 5
FKBP10 FK506 binding protein 10, 65 kDa
FLNA filamin A, alpha
GORAB golgin, RAB6-interacting
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HSPG2 heparan sulfate proteoglycan 2
IFITM5 interferon induced transmembrane protein 5
KIF1A kinesin family member 1A
LMNA lamin A/C
NOTCH2 notch 2
P3H1 prolyl 3-hydroxylase 1
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PPIB peptidylprolyl isomerase B (cyclophilin B)
RUNX2 runt-related transcription factor 2
SCN9A sodium channel, voltage gated, type IX alpha subunit
SETBP1 SET binding protein 1
SP7 Sp7 transcription factor
TNXB tenascin XB
WNK1 WNK lysine deficient protein kinase 1