periventricular gray matter heterotopia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass. (Human Phenotype Ontology, HP_0007165)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0007165
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Genes

4 genes associated with the periventricular gray matter heterotopia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
DHCR7 7-dehydrocholesterol reductase
FMR1 fragile X mental retardation 1
KAT6B K(lysine) acetyltransferase 6B