May-White Syndrome Gene Set
Genes
17 genes associated with the disease May-White Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
| Symbol |
Name |
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
ATN1
|
atrophin 1
|
|
CERS1
|
ceramide synthase 1
|
|
CHD2
|
chromodomain helicase DNA binding protein 2
|
|
CLN6
|
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
|
|
EPM2A
|
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
|
|
GOSR2
|
golgi SNAP receptor complex member 2
|
|
KCNC1
|
potassium channel, voltage gated Shaw related subfamily C, member 1
|
|
LMNB2
|
lamin B2
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NHLRC1
|
NHL repeat containing E3 ubiquitin protein ligase 1
|
|
PRDM8
|
PR domain containing 8
|
|
PRNP
|
prion protein
|
|
SACS
|
sacsin molecular chaperone
|
|
SERPINI1
|
serpin peptidase inhibitor, clade I (neuroserpin), member 1
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TSC1
|
tuberous sclerosis 1
|
