| Symbol |
Name |
|
ACAT2
|
acetyl-CoA acetyltransferase 2
|
|
ACO2
|
aconitase 2, mitochondrial
|
|
ADCK3
|
aarF domain containing kinase 3
|
|
ADCY5
|
adenylate cyclase 5
|
|
ADRA2B
|
adrenoceptor alpha 2B
|
|
ADSL
|
adenylosuccinate lyase
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
ALDH18A1
|
aldehyde dehydrogenase 18 family, member A1
|
|
AMT
|
aminomethyltransferase
|
|
ANO10
|
anoctamin 10
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
APTX
|
aprataxin
|
|
AR
|
androgen receptor
|
|
ARSA
|
arylsulfatase A
|
|
ARX
|
aristaless related homeobox
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATN1
|
atrophin 1
|
|
ATP13A2
|
ATPase type 13A2
|
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATXN1
|
ataxin 1
|
|
ATXN2
|
ataxin 2
|
|
ATXN3
|
ataxin 3
|
|
ATXN7
|
ataxin 7
|
|
AUH
|
AU RNA binding protein/enoyl-CoA hydratase
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BICD2
|
bicaudal D homolog 2 (Drosophila)
|
|
BRAT1
|
BRCA1-associated ATM activator 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
CASR
|
calcium-sensing receptor
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CEP126
|
centrosomal protein 126kDa
|
|
CHMP1A
|
charged multivesicular body protein 1A
|
|
CHMP2B
|
charged multivesicular body protein 2B
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
CLN5
|
ceroid-lipofuscinosis, neuronal 5
|
|
CLN6
|
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
|
|
CLN8
|
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
|
|
CNTN2
|
contactin 2 (axonal)
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CP
|
ceruloplasmin (ferroxidase)
|
|
CSTB
|
cystatin B (stefin B)
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
DCAF17
|
DDB1 and CUL4 associated factor 17
|
|
DDC
|
dopa decarboxylase (aromatic L-amino acid decarboxylase)
|
|
DLAT
|
dihydrolipoamide S-acetyltransferase
|
|
DNAJC5
|
DnaJ (Hsp40) homolog, subfamily C, member 5
|
|
DRD2
|
dopamine receptor D2
|
|
ELN
|
elastin
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
EPM2A
|
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
FARS2
|
phenylalanyl-tRNA synthetase 2, mitochondrial
|
|
FBXL4
|
F-box and leucine-rich repeat protein 4
|
|
FBXO38
|
F-box protein 38
|
|
FOXG1
|
forkhead box G1
|
|
FTL
|
ferritin, light polypeptide
|
|
FUS
|
FUS RNA binding protein
|
|
GAMT
|
guanidinoacetate N-methyltransferase
|
|
GBA
|
glucosidase, beta, acid
|
|
GCDH
|
glutaryl-CoA dehydrogenase
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GCSH
|
glycine cleavage system protein H (aminomethyl carrier)
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GLA
|
galactosidase, alpha
|
|
GLDC
|
glycine dehydrogenase (decarboxylating)
|
|
GLRA1
|
glycine receptor, alpha 1
|
|
GLRB
|
glycine receptor, beta
|
|
GLYCTK
|
glycerate kinase
|
|
GNA11
|
guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
|
|
GNAO1
|
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
|
|
GOSR2
|
golgi SNAP receptor complex member 2
|
|
GPHN
|
gephyrin
|
|
GRIA3
|
glutamate receptor, ionotropic, AMPA 3
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HCFC1
|
host cell factor C1
|
|
HEXB
|
hexosaminidase B (beta polypeptide)
|
|
HINT1
|
histidine triad nucleotide binding protein 1
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
HSPD1
|
heat shock 60kDa protein 1 (chaperonin)
|
|
HTT
|
huntingtin
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
JPH3
|
junctophilin 3
|
|
KCND3
|
potassium channel, voltage gated Shal related subfamily D, member 3
|
|
KCNMA1
|
potassium channel, calcium activated large conductance subfamily M alpha, member 1
|
|
KCNQ2
|
potassium channel, voltage gated KQT-like subfamily Q, member 2
|
|
KCNQ3
|
potassium channel, voltage gated KQT-like subfamily Q, member 3
|
|
KIF1C
|
kinesin family member 1C
|
|
LIMK1
|
LIM domain kinase 1
|
|
LRSAM1
|
leucine rich repeat and sterile alpha motif containing 1
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MOCS1
|
molybdenum cofactor synthesis 1
|
|
MOCS2
|
molybdenum cofactor synthesis 2
|
|
MRE11A
|
MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MT-TF
|
tRNA
|
|
MT-TH
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
MUT
|
methylmalonyl CoA mutase
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
ND1
|
|
|
NDE1
|
nudE neurodevelopment protein 1
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NGLY1
|
N-glycanase 1
|
|
NHLRC1
|
NHL repeat containing E3 ubiquitin protein ligase 1
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NME1
|
NME/NM23 nucleoside diphosphate kinase 1
|
|
NOL3
|
nucleolar protein 3 (apoptosis repressor with CARD domain)
|
|
NOP56
|
NOP56 ribonucleoprotein
|
|
NUP62
|
nucleoporin 62kDa
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OPA3
|
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
|
|
OPTN
|
optineurin
|
|
PANK2
|
pantothenate kinase 2
|
|
PDGFB
|
platelet-derived growth factor beta polypeptide
|
|
PDHA1
|
pyruvate dehydrogenase (lipoamide) alpha 1
|
|
PFN1
|
profilin 1
|
|
PGAP3
|
post-GPI attachment to proteins 3
|
|
PIGN
|
phosphatidylinositol glycan anchor biosynthesis, class N
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLP1
|
proteolipid protein 1
|
|
PNKD
|
paroxysmal nonkinesigenic dyskinesia
|
|
PNPLA2
|
patatin-like phospholipase domain containing 2
|
|
PNPO
|
pyridoxamine 5'-phosphate oxidase
|
|
PNPT1
|
polyribonucleotide nucleotidyltransferase 1
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PRNP
|
prion protein
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
PSAP
|
prosaposin
|
|
PSEN1
|
presenilin 1
|
|
PTCH1
|
patched 1
|
|
PTS
|
6-pyruvoyltetrahydropterin synthase
|
|
QDPR
|
quinoid dihydropteridine reductase
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RMND1
|
required for meiotic nuclear division 1 homolog (S. cerevisiae)
|
|
RNASET2
|
ribonuclease T2
|
|
SC5D
|
sterol-C5-desaturase
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SCN2A
|
sodium channel, voltage gated, type II alpha subunit
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SDHAF1
|
succinate dehydrogenase complex assembly factor 1
|
|
SERPINI1
|
serpin peptidase inhibitor, clade I (neuroserpin), member 1
|
|
SETX
|
senataxin
|
|
SGCE
|
sarcoglycan, epsilon
|
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLC20A2
|
solute carrier family 20 (phosphate transporter), member 2
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC46A1
|
solute carrier family 46 (folate transporter), member 1
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SLC6A5
|
solute carrier family 6 (neurotransmitter transporter), member 5
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SPR
|
sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
|
|
ST3GAL5
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
|
|
STAMBP
|
STAM binding protein
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
SUOX
|
sulfite oxidase
|
|
TAF1
|
TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBP
|
TATA box binding protein
|
|
TFG
|
TRK-fused gene
|
|
TH
|
tyrosine hydroxylase
|
|
THAP1
|
THAP domain containing, apoptosis associated protein 1
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TRAPPC11
|
trafficking protein particle complex 11
|
|
TREM2
|
triggering receptor expressed on myeloid cells 2
|
|
TSEN2
|
TSEN2 tRNA splicing endonuclease subunit
|
|
TSEN34
|
TSEN34 tRNA splicing endonuclease subunit
|
|
TSEN54
|
TSEN54 tRNA splicing endonuclease subunit
|
|
TSPYL1
|
TSPY-like 1
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
TYROBP
|
TYRO protein tyrosine kinase binding protein
|
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
|
UQCRQ
|
ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa
|
|
VAPB
|
VAMP (vesicle-associated membrane protein)-associated protein B and C
|
|
VCP
|
valosin containing protein
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
VRK1
|
vaccinia related kinase 1
|
|
XPA
|
xeroderma pigmentosum, complementation group A
|
