shagreen patch Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled, The word shagreen refers to a type of roughened untanned leather. (Human Phenotype Ontology, HP_0009721)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0009721
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Genes

3 genes associated with the shagreen patch phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
PTEN phosphatase and tensin homolog
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2