Shagreen Patch Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
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 https://www.disgenet.org/browser/0/1/0/C0432363
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Genes

8 genes associated with the disease Shagreen Patch in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
COL1A1 collagen, type I, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
IFNG interferon, gamma
PTEN phosphatase and tensin homolog
SLC25A24 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2