retinal hamartoma Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina. (Human Phenotype Ontology, HP_0009594)
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5 genes associated with the retinal hamartoma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AKT1 v-akt murine thymoma viral oncogene homolog 1
NF2 neurofibromin 2 (merlin)
PTEN phosphatase and tensin homolog
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2