Enchondromatosis Gene Set
Genes
22 genes associated with the disease Enchondromatosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
| Symbol |
Name |
|
ACVR2A
|
activin A receptor, type IIA
|
|
ANGPTL4
|
angiopoietin-like 4
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
EDIL3
|
EGF-like repeats and discoidin I-like domains 3
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EXT2
|
exostosin glycosyltransferase 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
GNAS
|
GNAS complex locus
|
|
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
|
|
ITGB3
|
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
|
|
POLR1C
|
polymerase (RNA) I polypeptide C, 30kDa
|
|
POLR1D
|
polymerase (RNA) I polypeptide D, 16kDa
|
|
PTH
|
parathyroid hormone
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
PTHLH
|
parathyroid hormone-like hormone
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
STK11
|
serine/threonine kinase 11
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
VEGFA
|
vascular endothelial growth factor A
|
