Lethal Skeletal Dysplasia Gene Set
Genes
17 genes associated with the disease Lethal Skeletal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
| Symbol |
Name |
|
ACVR1
|
activin A receptor, type I
|
|
ALG9
|
ALG9, alpha-1,2-mannosyltransferase
|
|
B4GALT7
|
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
|
|
CEP43
|
centrosomal protein 43
|
|
CHTOP
|
chromatin target of PRMT1
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
IFT80
|
intraflagellar transport 80
|
|
LBR
|
lamin B receptor
|
|
NEK9
|
NIMA-related kinase 9
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
TRIP11
|
thyroid hormone receptor interactor 11
|
|
WDR34
|
WD repeat domain 34
|
|
WDR35
|
WD repeat domain 35
|
|
WDR60
|
WD repeat domain 60
|
