leiomyosarcoma Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A sarcoma containing large spindle cells of smooth muscle. Although it rarely occurs in soft tissue, it is common in the viscera. It is the most common soft tissue sarcoma of the gastrointestinal tract and uterus. The median age of patients is 60 years. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1865)|A malignant smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis.|An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas. (Experimental Factor Ontology, EFO_0000564)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0100243
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Genes

20 genes associated with the leiomyosarcoma 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
AXIN2 axin 2
BAX BCL2-associated X protein
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DCC DCC netrin 1 receptor
EP300 E1A binding protein p300
FGFR3 fibroblast growth factor receptor 3
FH fumarate hydratase
FLCN folliculin
MCC mutated in colorectal cancers
MLH3 mutL homolog 3
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
PDGFRL platelet-derived growth factor receptor-like
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PTPN12 protein tyrosine phosphatase, non-receptor type 12
PTPRJ protein tyrosine phosphatase, receptor type, J
RAD54B RAD54 homolog B (S. cerevisiae)
TP53 tumor protein p53