Periventricular Gray Matter Heterotopia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
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 https://www.disgenet.org/browser/0/1/0/C1849173
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Genes

4 genes associated with the disease Periventricular Gray Matter Heterotopia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
CPA6 carboxypeptidase A6
DCHS1 dachsous cadherin-related 1
FAT4 FAT atypical cadherin 4
H3F3A H3 histone, family 3A