hamartoma of the eye Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye. (Human Phenotype Ontology, HP_0010568)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010568
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Genes

13 genes associated with the hamartoma of the eye 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
KLLN killin, p53-regulated DNA replication inhibitor
KRT1 keratin 1, type II
KRT10 keratin 10, type I
NF1 neurofibromin 1
NF2 neurofibromin 2 (merlin)
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PTEN phosphatase and tensin homolog
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2