delayed cranial suture closure Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age. (Human Phenotype Ontology, HP_0000270)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000270
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Genes

34 genes associated with the delayed cranial suture closure phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
AMER1 APC membrane recruitment protein 1
ANTXR1 anthrax toxin receptor 1
ASPA aspartoacylase
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BANF1 barrier to autointegration factor 1
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CREBBP CREB binding protein
CRTAP cartilage associated protein
CTSK cathepsin K
FAM111A family with sequence similarity 111, member A
FGFR2 fibroblast growth factor receptor 2
FLNA filamin A, alpha
GLI3 GLI family zinc finger 3
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
LMNA lamin A/C
MED12 mediator complex subunit 12
MMP2 matrix metallopeptidase 2
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
P3H1 prolyl 3-hydroxylase 1
PEX14 peroxisomal biogenesis factor 14
PEX19 peroxisomal biogenesis factor 19
POU1F1 POU class 1 homeobox 1
PTDSS1 phosphatidylserine synthase 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS19 ribosomal protein S19
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX2 runt-related transcription factor 2
SEC23A Sec23 homolog A (S. cerevisiae)
SH3PXD2B SH3 and PX domains 2B
TBCE tubulin folding cofactor E
TWIST1 twist family bHLH transcription factor 1
ZMPSTE24 zinc metallopeptidase STE24