Pten Hamartoma Tumor Syndrome Gene Set

Dataset	DisGeNET Gene-Disease Associations
Category	disease or phenotype associations
Type	disease
Description	mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS. (Orphanet Rare Disease Ontology, Orphanet_306498)
External Link	https://www.disgenet.org/browser/0/1/0/C1959582
Similar Terms
Downloads & Tools

Genes

17 genes associated with the disease Pten Hamartoma Tumor Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol	Name
AKT1	v-akt murine thymoma viral oncogene homolog 1
BMPR1A	bone morphogenetic protein receptor, type IA
CTNNB1	catenin (cadherin-associated protein), beta 1, 88kDa
EGFR	epidermal growth factor receptor
FGFR2	fibroblast growth factor receptor 2
FOXP3	forkhead box P3
LYPD1	LY6/PLAUR domain containing 1
MTOR	mechanistic target of rapamycin (serine/threonine kinase)
NF2	neurofibromin 2 (merlin)
PIK3CA	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PRKAR1A	protein kinase, cAMP-dependent, regulatory, type I, alpha
PTEN	phosphatase and tensin homolog
TNF	tumor necrosis factor
TSC2	tuberous sclerosis 2