| Symbol |
Name |
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
AP4E1
|
adaptor-related protein complex 4, epsilon 1 subunit
|
|
AP4M1
|
adaptor-related protein complex 4, mu 1 subunit
|
|
ARSA
|
arylsulfatase A
|
|
ARX
|
aristaless related homeobox
|
|
ASNS
|
asparagine synthetase (glutamine-hydrolyzing)
|
|
AUH
|
AU RNA binding protein/enoyl-CoA hydratase
|
|
CACNA1D
|
calcium channel, voltage-dependent, L type, alpha 1D subunit
|
|
COASY
|
CoA synthase
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
GAD1
|
glutamate decarboxylase 1 (brain, 67kDa)
|
|
GLB1
|
galactosidase, beta 1
|
|
GLYCTK
|
glycerate kinase
|
|
KANK1
|
KN motif and ankyrin repeat domains 1
|
|
KIF2A
|
kinesin heavy chain member 2A
|
|
KIF5C
|
kinesin family member 5C
|
|
LIAS
|
lipoic acid synthetase
|
|
MCOLN1
|
mucolipin 1
|
|
MOCS1
|
molybdenum cofactor synthesis 1
|
|
MOCS2
|
molybdenum cofactor synthesis 2
|
|
MRPS22
|
mitochondrial ribosomal protein S22
|
|
NALCN
|
sodium leak channel, non selective
|
|
NDE1
|
nudE neurodevelopment protein 1
|
|
PDHX
|
pyruvate dehydrogenase complex, component X
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
RAB18
|
RAB18, member RAS oncogene family
|
|
RANBP2
|
RAN binding protein 2
|
|
SCN2A
|
sodium channel, voltage gated, type II alpha subunit
|
|
SEPSECS
|
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SPTAN1
|
spectrin, alpha, non-erythrocytic 1
|
|
STXBP1
|
syntaxin binding protein 1
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TUBA1A
|
tubulin, alpha 1a
|
|
TUBG1
|
tubulin, gamma 1
|
|
VPS53
|
vacuolar protein sorting 53 homolog (S. cerevisiae)
|
