| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
AARS2
|
alanyl-tRNA synthetase 2, mitochondrial
|
|
ABCB7
|
ATP-binding cassette, sub-family B (MDR/TAP), member 7
|
|
ABHD12
|
abhydrolase domain containing 12
|
|
ADCY5
|
adenylate cyclase 5
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
AP4B1
|
adaptor-related protein complex 4, beta 1 subunit
|
|
APTX
|
aprataxin
|
|
AR
|
androgen receptor
|
|
ARSA
|
arylsulfatase A
|
|
ARX
|
aristaless related homeobox
|
|
ATCAY
|
ataxia, cerebellar, Cayman type
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATP2B3
|
ATPase, Ca++ transporting, plasma membrane 3
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
ATP8A2
|
ATPase, aminophospholipid transporter, class I, type 8A, member 2
|
|
ATXN1
|
ataxin 1
|
|
ATXN10
|
ataxin 10
|
|
ATXN2
|
ataxin 2
|
|
ATXN3
|
ataxin 3
|
|
ATXN7
|
ataxin 7
|
|
ATXN8
|
ataxin 8
|
|
ATXN8OS
|
ATXN8 opposite strand (non-protein coding)
|
|
AUH
|
AU RNA binding protein/enoyl-CoA hydratase
|
|
B4GALNT1
|
beta-1,4-N-acetyl-galactosaminyl transferase 1
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BEAN1
|
brain expressed, associated with NEDD4, 1
|
|
BIN1
|
bridging integrator 1
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CA8
|
carbonic anhydrase VIII
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNB4
|
calcium channel, voltage-dependent, beta 4 subunit
|
|
CAMTA1
|
calmodulin binding transcription activator 1
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CHCHD10
|
coiled-coil-helix-coiled-coil-helix domain containing 10
|
|
CHMP2B
|
charged multivesicular body protein 2B
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRNB1
|
cholinergic receptor, nicotinic, beta 1 (muscle)
|
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
|
CHRNE
|
cholinergic receptor, nicotinic, epsilon (muscle)
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
COASY
|
CoA synthase
|
|
COLQ
|
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX15
|
cytochrome c oxidase assembly homolog 15 (yeast)
|
|
CP
|
ceruloplasmin (ferroxidase)
|
|
CSTB
|
cystatin B (stefin B)
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTSF
|
cathepsin F
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
DARS2
|
aspartyl-tRNA synthetase 2, mitochondrial
|
|
DCAF17
|
DDB1 and CUL4 associated factor 17
|
|
DCTN1
|
dynactin 1
|
|
DCX
|
doublecortin
|
|
DDHD2
|
DDHD domain containing 2
|
|
DNAJC6
|
DnaJ (Hsp40) homolog, subfamily C, member 6
|
|
EEF2
|
eukaryotic translation elongation factor 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
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
ELOVL5
|
ELOVL fatty acid elongase 5
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
FA2H
|
fatty acid 2-hydroxylase
|
|
FAM126A
|
family with sequence similarity 126, member A
|
|
FBXO7
|
F-box protein 7
|
|
FGF14
|
fibroblast growth factor 14
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FTL
|
ferritin, light polypeptide
|
|
FXN
|
frataxin
|
|
GAN
|
gigaxonin
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
|
GRM1
|
glutamate receptor, metabotropic 1
|
|
GSS
|
glutathione synthetase
|
|
HEPACAM
|
hepatic and glial cell adhesion molecule
|
|
HEXB
|
hexosaminidase B (beta polypeptide)
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HTRA1
|
HtrA serine peptidase 1
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
JPH3
|
junctophilin 3
|
|
KCNA1
|
potassium channel, voltage gated shaker related subfamily A, member 1
|
|
KCNC3
|
potassium channel, voltage gated Shaw related subfamily C, member 3
|
|
KCND3
|
potassium channel, voltage gated Shal related subfamily D, member 3
|
|
KCTD7
|
potassium channel tetramerization domain containing 7
|
|
KIAA0226
|
KIAA0226
|
|
KIF1C
|
kinesin family member 1C
|
|
LMNB1
|
lamin B1
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
MAPT
|
microtubule-associated protein tau
|
|
MARS2
|
methionyl-tRNA synthetase 2, mitochondrial
|
|
MATR3
|
matrin 3
|
|
MRE11A
|
MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
|
|
MTPAP
|
mitochondrial poly(A) polymerase
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
MYOT
|
myotilin
|
|
NDUFA10
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
|
|
NDUFA12
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
|
|
NDUFA2
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
|
|
NDUFA9
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
|
|
NDUFAF2
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
|
|
NDUFAF6
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
|
|
NDUFS3
|
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
|
|
NDUFS4
|
NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
|
|
NDUFS7
|
NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
|
|
NDUFS8
|
NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NOP56
|
NOP56 ribonucleoprotein
|
|
NOTCH3
|
notch 3
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NPC2
|
Niemann-Pick disease, type C2
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
OPA3
|
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
|
|
OPTN
|
optineurin
|
|
PABPN1
|
poly(A) binding protein, nuclear 1
|
|
PANK2
|
pantothenate kinase 2
|
|
PCNA
|
proliferating cell nuclear antigen
|
|
PDE8B
|
phosphodiesterase 8B
|
|
PDGFB
|
platelet-derived growth factor beta polypeptide
|
|
PDYN
|
prodynorphin
|
|
PFN1
|
profilin 1
|
|
PGM3
|
phosphoglucomutase 3
|
|
PIK3R5
|
phosphoinositide-3-kinase, regulatory subunit 5
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLP1
|
proteolipid protein 1
|
|
PNKD
|
paroxysmal nonkinesigenic dyskinesia
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLR3A
|
polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
|
|
POLR3B
|
polymerase (RNA) III (DNA directed) polypeptide B
|
|
PPP2R2B
|
protein phosphatase 2, regulatory subunit B, beta
|
|
PRICKLE1
|
prickle homolog 1 (Drosophila)
|
|
PRICKLE2
|
prickle homolog 2 (Drosophila)
|
|
PRKCG
|
protein kinase C, gamma
|
|
PRKRA
|
protein kinase, interferon-inducible double stranded RNA dependent activator
|
|
PRNP
|
prion protein
|
|
PSAP
|
prosaposin
|
|
PSEN1
|
presenilin 1
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
REEP1
|
receptor accessory protein 1
|
|
RNF216
|
ring finger protein 216
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
RTTN
|
rotatin
|
|
SACS
|
sacsin molecular chaperone
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SCN8A
|
sodium channel, voltage gated, type VIII alpha subunit
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SERPINI1
|
serpin peptidase inhibitor, clade I (neuroserpin), member 1
|
|
SETX
|
senataxin
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLC19A3
|
solute carrier family 19 (thiamine transporter), member 3
|
|
SLC20A2
|
solute carrier family 20 (phosphate transporter), member 2
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC30A10
|
solute carrier family 30, member 10
|
|
SMS
|
spermine synthase
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPG20
|
spastic paraplegia 20 (Troyer syndrome)
|
|
SPG21
|
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SPR
|
sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
|
|
SPTBN2
|
spectrin, beta, non-erythrocytic 2
|
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
|
SURF1
|
surfeit 1
|
|
SYNJ1
|
synaptojanin 1
|
|
SYT14
|
synaptotagmin XIV
|
|
TARDBP
|
TAR DNA binding protein
|
|
TBP
|
TATA box binding protein
|
|
TECPR2
|
tectonin beta-propeller repeat containing 2
|
|
TGM6
|
transglutaminase 6
|
|
THAP1
|
THAP domain containing, apoptosis associated protein 1
|
|
TIMM8A
|
translocase of inner mitochondrial membrane 8 homolog A (yeast)
|
|
TOR1A
|
torsin family 1, member A (torsin A)
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TRIM37
|
tripartite motif containing 37
|
|
TTBK2
|
tau tubulin kinase 2
|
|
TTC19
|
tetratricopeptide repeat domain 19
|
|
TTR
|
transthyretin
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
VAMP1
|
vesicle-associated membrane protein 1 (synaptobrevin 1)
|
|
VCP
|
valosin containing protein
|
|
VLDLR
|
very low density lipoprotein receptor
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
WDR81
|
WD repeat domain 81
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WWOX
|
WW domain containing oxidoreductase
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
