| Dataset | DisGeNET Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| Description | A usually aggressive malignant mesenchymal cell tumor most commonly arising from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the tumor. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma.|A malignant mesenchymal neoplasm arising exclusively from the soft tissues. Representative examples include soft tissue sarcoma, extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumor, and malignant hemangiopericytoma.|Neoplasms developing from some structure of the connective and subcutaneous tissue. The concept does not refer to neoplasms located in connective or soft tissue.|A cancer that affects connective tissue resulting in mesoderm proliferation.|A malignant mesenchymal neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones.|Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue. (Experimental Factor Ontology, EFO_0000691) |
| External Link | https://www.disgenet.org/browser/0/1/0/C0855073 |
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37 genes associated with the disease Sarcoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| ABCB1 | ATP-binding cassette, sub-family B (MDR/TAP), member 1 |
| ALK | anaplastic lymphoma receptor tyrosine kinase |
| BCOR | BCL6 corepressor |
| BRCA2 | breast cancer 2, early onset |
| CCNB3 | cyclin B3 |
| CD274 | CD274 molecule |
| CD99 | CD99 molecule |
| CIC | capicua transcriptional repressor |
| CREBRF | CREB3 regulatory factor |
| CSF3 | colony stimulating factor 3 (granulocyte) |
| DLK1 | delta-like 1 homolog (Drosophila) |
| DUX4 | double homeobox 4 |
| EML4 | echinoderm microtubule associated protein like 4 |
| EWSR1 | EWS RNA-binding protein 1 |
| FOLH1 | folate hydrolase (prostate-specific membrane antigen) 1 |
| GLI1 | GLI family zinc finger 1 |
| GLI2 | GLI family zinc finger 2 |
| HMBS | hydroxymethylbilane synthase |
| KIT | v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog |
| MDM2 | MDM2 proto-oncogene, E3 ubiquitin protein ligase |
| MGA | MGA, MAX dimerization protein |
| MGMT | O-6-methylguanine-DNA methyltransferase |
| MLH1 | mutL homolog 1 |
| MXD4 | MAX dimerization protein 4 |
| MYOCD | myocardin |
| NFATC2 | nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 |
| PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
| POU5F1 | POU class 5 homeobox 1 |
| PTCH1 | patched 1 |
| SATB2 | SATB homeobox 2 |
| SMARCB1 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
| SOX9 | SRY (sex determining region Y)-box 9 |
| TBC1D9 | TBC1 domain family, member 9 (with GRAM domain) |
| TP53 | tumor protein p53 |
| VEGFA | vascular endothelial growth factor A |
| VIM | vimentin |
| ZBTB7A | zinc finger and BTB domain containing 7A |