craniofacial hyperostosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Excessive growth of the craniofacial bones. (Human Phenotype Ontology, HP_0004493)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004493
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Genes

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

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
AGA aspartylglucosaminidase
AKT1 v-akt murine thymoma viral oncogene homolog 1
AMER1 APC membrane recruitment protein 1
ANKH ANKH inorganic pyrophosphate transport regulator
COL11A1 collagen, type XI, alpha 1
COL1A1 collagen, type I, alpha 1
DLX3 distal-less homeobox 3
FLNA filamin A, alpha
GJA1 gap junction protein, alpha 1, 43kDa
GJB6 gap junction protein, beta 6, 30kDa
GNAS GNAS complex locus
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
HHAT hedgehog acyltransferase
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
NOTCH2 notch 2
PHEX phosphate regulating endopeptidase homolog, X-linked
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX2 runt-related transcription factor 2
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SMAD4 SMAD family member 4
SOST sclerostin
TBXAS1 thromboxane A synthase 1 (platelet)
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b