megalencephaly Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Enlargement of all or parts of the cerebral hemispheres. (Human Phenotype Ontology, HP_0001355)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001355
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Genes

11 genes associated with the megalencephaly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AKT3 v-akt murine thymoma viral oncogene homolog 3
CCND2 cyclin D2
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
HEPACAM hepatic and glial cell adhesion molecule
HRAS Harvey rat sarcoma viral oncogene homolog
KRAS Kirsten rat sarcoma viral oncogene homolog
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
TBC1D7 TBC1 domain family, member 7