| Symbol |
Name |
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
ADD3
|
adducin 3 (gamma)
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
ANKLE2
|
ankyrin repeat and LEM domain containing 2
|
|
AP4B1
|
adaptor-related protein complex 4, beta 1 subunit
|
|
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)
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATP13A2
|
ATPase type 13A2
|
|
AUH
|
AU RNA binding protein/enoyl-CoA hydratase
|
|
BCL11B
|
B-cell CLL/lymphoma 11B (zinc finger protein)
|
|
CACNA1E
|
calcium channel, voltage-dependent, R type, alpha 1E subunit
|
|
CAVIN2
|
caveolae associated protein 2
|
|
CLIC2
|
chloride intracellular channel 2
|
|
CNPY3
|
canopy FGF signaling regulator 3
|
|
COASY
|
CoA synthase
|
|
COG2
|
component of oligomeric golgi complex 2
|
|
COLGALT1
|
collagen beta(1-O)galactosyltransferase 1
|
|
CSF1R
|
colony stimulating factor 1 receptor
|
|
CTNNA2
|
catenin (cadherin-associated protein), alpha 2
|
|
CYB5A
|
cytochrome b5 type A (microsomal)
|
|
CYB5R3
|
cytochrome b5 reductase 3
|
|
DEGS1
|
delta(4)-desaturase, sphingolipid 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
|
|
GRIA4
|
glutamate receptor, ionotropic, AMPA 4
|
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
|
IBA57
|
IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IL6
|
interleukin 6
|
|
IRF2BPL
|
interferon regulatory factor 2 binding protein-like
|
|
ISCA2
|
iron-sulfur cluster assembly 2
|
|
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
|
|
MECP2
|
methyl CpG binding protein 2
|
|
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
|
|
NDUFAF4
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
|
|
NOS1
|
nitric oxide synthase 1 (neuronal)
|
|
OSTM1
|
osteopetrosis associated transmembrane protein 1
|
|
OTUD6B
|
OTU domain containing 6B
|
|
PCDH12
|
protocadherin 12
|
|
PDHX
|
pyruvate dehydrogenase complex, component X
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PMP22
|
peripheral myelin protein 22
|
|
PRDM8
|
PR domain containing 8
|
|
RAB18
|
RAB18, member RAS oncogene family
|
|
RANBP2
|
RAN binding protein 2
|
|
RNASEH2A
|
ribonuclease H2, subunit A
|
|
RNASEH2B
|
ribonuclease H2, subunit B
|
|
RNASEH2C
|
ribonuclease H2, subunit C
|
|
SAMHD1
|
SAM domain and HD domain 1
|
|
SCN2A
|
sodium channel, voltage gated, type II alpha subunit
|
|
SCN3A
|
sodium channel, voltage gated, type III alpha subunit
|
|
SEPSECS
|
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
|
|
SIX6
|
SIX homeobox 6
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC19A3
|
solute carrier family 19 (thiamine transporter), member 3
|
|
SLC1A4
|
solute carrier family 1 (glutamate/neutral amino acid transporter), member 4
|
|
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
|
|
SYNJ1
|
synaptojanin 1
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TBCD
|
tubulin folding cofactor D
|
|
TBCE
|
tubulin folding cofactor E
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TUBA1A
|
tubulin, alpha 1a
|
|
TUBB3
|
tubulin, beta 3 class III
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
VPS53
|
vacuolar protein sorting 53 homolog (S. cerevisiae)
|
|
WARS2
|
tryptophanyl tRNA synthetase 2, mitochondrial
|
