| Symbol |
Name |
|
AARS2
|
alanyl-tRNA synthetase 2, mitochondrial
|
|
AP4B1
|
adaptor-related protein complex 4, beta 1 subunit
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
AUH
|
AU RNA binding protein/enoyl-CoA hydratase
|
|
CLCN2
|
chloride channel, voltage-sensitive 2
|
|
CLN6
|
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
DARS
|
aspartyl-tRNA synthetase
|
|
DDHD2
|
DDHD domain containing 2
|
|
EIF2B1
|
eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
|
|
EIF2B2
|
eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
|
|
EIF2B3
|
eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
|
|
EIF2B4
|
eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
|
|
EIF2B5
|
eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
|
|
FA2H
|
fatty acid 2-hydroxylase
|
|
GLUL
|
glutamate-ammonia ligase
|
|
L2HGDH
|
L-2-hydroxyglutarate dehydrogenase
|
|
LAMA1
|
laminin, alpha 1
|
|
LARGE
|
like-glycosyltransferase
|
|
LMNB1
|
lamin B1
|
|
MARS2
|
methionyl-tRNA synthetase 2, mitochondrial
|
|
MEF2C
|
myocyte enhancer factor 2C
|
|
MLC1
|
megalencephalic leukoencephalopathy with subcortical cysts 1
|
|
MRPS22
|
mitochondrial ribosomal protein S22
|
|
NOTCH3
|
notch 3
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
PC
|
pyruvate carboxylase
|
|
PSAP
|
prosaposin
|
|
RNASET2
|
ribonuclease T2
|
|
RPIA
|
ribose 5-phosphate isomerase A
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SDHAF1
|
succinate dehydrogenase complex assembly factor 1
|
|
SEPSECS
|
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
TMEM70
|
transmembrane protein 70
|
|
TREM2
|
triggering receptor expressed on myeloid cells 2
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TSEN54
|
TSEN54 tRNA splicing endonuclease subunit
|
|
TYMP
|
thymidine phosphorylase
|
|
TYROBP
|
TYRO protein tyrosine kinase binding protein
|
