relative macrocephaly Gene Set

Dataset	HPO Gene-Disease Associations
Category	disease or phenotype associations
Type	phenotype
Description	A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account. (Human Phenotype Ontology, HP_0004482)
External Link	http://compbio.charite.de/hpoweb/showterm?id=HP:0004482
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Genes

14 genes associated with the relative macrocephaly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol	Name
ACAN	aggrecan
BRAF	B-Raf proto-oncogene, serine/threonine kinase
CUL4B	cullin 4B
DHCR24	24-dehydrocholesterol reductase
FH	fumarate hydratase
IHH	indian hedgehog
ITCH	itchy E3 ubiquitin protein ligase
NF1	neurofibromin 1
POLE	polymerase (DNA directed), epsilon, catalytic subunit
PTDSS1	phosphatidylserine synthase 1
RIT1	Ras-like without CAAX 1
SERPINH1	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
THRA	thyroid hormone receptor, alpha
XYLT1	xylosyltransferase I