flat occiput Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Reduced convexity of the occiput (posterior part of skull). (Human Phenotype Ontology, HP_0005469)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0005469
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Genes

16 genes associated with the flat occiput phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CDKL5 cyclin-dependent kinase-like 5
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
ERF Ets2 repressor factor
KIF11 kinesin family member 11
MAN2B1 mannosidase, alpha, class 2B, member 1
MECP2 methyl CpG binding protein 2
METTL23 methyltransferase like 23
PEX1 peroxisomal biogenesis factor 1
PEX14 peroxisomal biogenesis factor 14
PTCH1 patched 1
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
TMEM70 transmembrane protein 70
UBE3A ubiquitin protein ligase E3A
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor