hamartoma Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A disordered proliferation of mature tissues that is native to the site of origin - eg, exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes - eg, neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma. (Human Phenotype Ontology, HP_0010566)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010566
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Genes

36 genes associated with the 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
APC adenomatous polyposis coli
BRAF B-Raf proto-oncogene, serine/threonine kinase
CCBE1 collagen and calcium binding EGF domains 1
CDC73 cell division cycle 73
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
COL18A1 collagen, type XVIII, alpha 1
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
FAT4 FAT atypical cadherin 4
FGFR3 fibroblast growth factor receptor 3
GLI3 GLI family zinc finger 3
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
KLLN killin, p53-regulated DNA replication inhibitor
KRT1 keratin 1, type II
KRT10 keratin 10, type I
NF1 neurofibromin 1
NF2 neurofibromin 2 (merlin)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
OFD1 oral-facial-digital syndrome 1
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PTCH1 patched 1
PTCH2 patched 2
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
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
SMAD4 SMAD family member 4
SOX18 SRY (sex determining region Y)-box 18
SOX2 SRY (sex determining region Y)-box 2
STK11 serine/threonine kinase 11
SUFU suppressor of fused homolog (Drosophila)
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2