Enchondroma Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus. (Human Phenotype Ontology, HP_0030038)
External Link https://www.disgenet.org/browser/0/1/0/C1704356
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Genes

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

Symbol Name
ADAR adenosine deaminase, RNA-specific
AMACR alpha-methylacyl-CoA racemase
CD6 CD6 molecule
CDK4 cyclin-dependent kinase 4
CDKN2A cyclin-dependent kinase inhibitor 2A
COL2A1 collagen, type II, alpha 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IFIH1 interferon induced with helicase C domain 1
JUNB jun B proto-oncogene
MATN3 matrilin 3
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MMP13 matrix metallopeptidase 13
MMP9 matrix metallopeptidase 9
MMRN1 multimerin 1
MYC v-myc avian myelocytomatosis viral oncogene homolog
NFATC2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2
PEG10 paternally expressed 10
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
POSTN periostin, osteoblast specific factor
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RNASEH2A ribonuclease H2, subunit A
RNASEH2B ribonuclease H2, subunit B
RNASEH2C ribonuclease H2, subunit C
SAMHD1 SAM domain and HD domain 1
SCAP SREBF chaperone
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SOX9 SRY (sex determining region Y)-box 9
SST somatostatin
TP53 tumor protein p53
TREX1 three prime repair exonuclease 1
VEGFA vascular endothelial growth factor A
WISP1 WNT1 inducible signaling pathway protein 1