| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
AARS1
|
alanyl-tRNA synthetase 1
|
|
AARS2
|
alanyl-tRNA synthetase 2, mitochondrial
|
|
ACD
|
adrenocortical dysplasia homolog (mouse)
|
|
ACE
|
angiotensin I converting enzyme
|
|
ACTB
|
actin, beta
|
|
ACTG1
|
actin gamma 1
|
|
AHNAK2
|
AHNAK nucleoprotein 2
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
APCDD1
|
adenomatosis polyposis coli down-regulated 1
|
|
APOA2
|
apolipoprotein A-II
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
ARHGEF10
|
Rho guanine nucleotide exchange factor (GEF) 10
|
|
ARHGEF2
|
Rho/Rac guanine nucleotide exchange factor (GEF) 2
|
|
ARSA
|
arylsulfatase A
|
|
ATP1A1
|
ATPase, Na+/K+ transporting, alpha 1 polypeptide
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
BAG1
|
BCL2-associated athanogene
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BCL2L11
|
BCL2-like 11 (apoptosis facilitator)
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
BUD31
|
BUD31 homolog (S. cerevisiae)
|
|
C1ORF194
|
chromosome 1 open reading frame 194
|
|
CADM4
|
cell adhesion molecule 4
|
|
CANX
|
calnexin
|
|
CCL2
|
chemokine (C-C motif) ligand 2
|
|
CD44
|
CD44 molecule (Indian blood group)
|
|
CDC42
|
cell division cycle 42
|
|
CHCHD2
|
coiled-coil-helix-coiled-coil-helix domain containing 2
|
|
CNTF
|
ciliary neurotrophic factor
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX6A1
|
cytochrome c oxidase subunit VIa polypeptide 1
|
|
CSF1
|
colony stimulating factor 1 (macrophage)
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
CUX1
|
cut-like homeobox 1
|
|
DCPS
|
decapping enzyme, scavenger
|
|
DCTN2
|
dynactin 2 (p50)
|
|
DES
|
desmin
|
|
DGAT2
|
diacylglycerol O-acyltransferase 2
|
|
DHTKD1
|
dehydrogenase E1 and transketolase domain containing 1
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DNAJB2
|
DnaJ (Hsp40) homolog, subfamily B, member 2
|
|
DNM1
|
dynamin 1
|
|
DNM2
|
dynamin 2
|
|
DRP2
|
dystrophin related protein 2
|
|
DSCAM
|
Down syndrome cell adhesion molecule
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
EEF1A1
|
eukaryotic translation elongation factor 1 alpha 1
|
|
EGFR
|
epidermal growth factor receptor
|
|
EGR2
|
early growth response 2
|
|
EMP2
|
epithelial membrane protein 2
|
|
EMP3
|
epithelial membrane protein 3
|
|
ERBB2
|
erb-b2 receptor tyrosine kinase 2
|
|
ERBB3
|
erb-b2 receptor tyrosine kinase 3
|
|
FBLN5
|
fibulin 5
|
|
FGD4
|
FYVE, RhoGEF and PH domain containing 4
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FUS
|
FUS RNA binding protein
|
|
FXN
|
frataxin
|
|
GAN
|
gigaxonin
|
|
GARS
|
glycyl-tRNA synthetase
|
|
GART
|
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
|
|
GBA
|
glucosidase, beta, acid
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB3
|
gap junction protein, beta 3, 31kDa
|
|
GNB4
|
guanine nucleotide binding protein (G protein), beta polypeptide 4
|
|
GOT2
|
glutamic-oxaloacetic transaminase 2, mitochondrial
|
|
GSTK1
|
glutathione S-transferase kappa 1
|
|
GSTT2
|
glutathione S-transferase theta 2 (gene/pseudogene)
|
|
GSTT2B
|
glutathione S-transferase theta 2B (gene/pseudogene)
|
|
HADHB
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
|
|
HARS1
|
histidyl-tRNA synthetase 1
|
|
HARS2
|
histidyl-tRNA synthetase 2, mitochondrial
|
|
HCLS1
|
hematopoietic cell-specific Lyn substrate 1
|
|
HDAC6
|
histone deacetylase 6
|
|
HINT1
|
histidine triad nucleotide binding protein 1
|
|
HK1
|
hexokinase 1
|
|
HOXD10
|
homeobox D10
|
|
HSPA4
|
heat shock 70kDa protein 4
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
HSPB2
|
heat shock 27kDa protein 2
|
|
HSPB3
|
heat shock 27kDa protein 3
|
|
HSPB8
|
heat shock 22kDa protein 8
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
IL17B
|
interleukin 17B
|
|
IL2RB
|
interleukin 2 receptor, beta
|
|
IL6
|
interleukin 6
|
|
INF2
|
inverted formin, FH2 and WH2 domain containing
|
|
IQSEC2
|
IQ motif and Sec7 domain 2
|
|
ITGA6
|
integrin, alpha 6
|
|
JPH1
|
junctophilin 1
|
|
KARS1
|
lysyl-tRNA synthetase 1
|
|
KHSRP
|
KH-type splicing regulatory protein
|
|
KIF1B
|
kinesin family member 1B
|
|
KIF20A
|
kinesin family member 20A
|
|
KIF5A
|
kinesin family member 5A
|
|
LCAT
|
lecithin-cholesterol acyltransferase
|
|
LITAF
|
lipopolysaccharide-induced TNF factor
|
|
LMNA
|
lamin A/C
|
|
LPAR1
|
lysophosphatidic acid receptor 1
|
|
LRIG3
|
leucine-rich repeats and immunoglobulin-like domains 3
|
|
LRSAM1
|
leucine rich repeat and sterile alpha motif containing 1
|
|
MAD2L1BP
|
MAD2L1 binding protein
|
|
MAG
|
myelin associated glycoprotein
|
|
MARCH8
|
membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase
|
|
MARS1
|
methionyl-tRNA synthetase 1
|
|
MBP
|
myelin basic protein
|
|
MCM3AP
|
minichromosome maintenance complex component 3 associated protein
|
|
MDM2
|
MDM2 proto-oncogene, E3 ubiquitin protein ligase
|
|
MED25
|
mediator complex subunit 25
|
|
MFN1
|
mitofusin 1
|
|
MFN2
|
mitofusin 2
|
|
MLXIP
|
MLX interacting protein
|
|
MME
|
membrane metallo-endopeptidase
|
|
MORC2
|
MORC family CW-type zinc finger 2
|
|
MPZ
|
myelin protein zero
|
|
MT-ATP6
|
ATP synthase F0 subunit 6
|
|
MTM1
|
myotubularin 1
|
|
MTMR1
|
myotubularin related protein 1
|
|
MTMR2
|
myotubularin related protein 2
|
|
MUL1
|
mitochondrial E3 ubiquitin protein ligase 1
|
|
MYCN
|
v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
|
|
MYLIP
|
myosin regulatory light chain interacting protein
|
|
MYO15A
|
myosin XVA
|
|
MYO1A
|
myosin IA
|
|
NAGLU
|
N-acetylglucosaminidase, alpha
|
|
NDRG1
|
N-myc downstream regulated 1
|
|
NEDD4
|
neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase
|
|
NEFH
|
neurofilament, heavy polypeptide
|
|
NEFL
|
neurofilament, light polypeptide
|
|
NGF
|
nerve growth factor (beta polypeptide)
|
|
NGFR
|
nerve growth factor receptor
|
|
NRG1
|
neuregulin 1
|
|
NRG2
|
neuregulin 2
|
|
NRP1
|
neuropilin 1
|
|
NTF3
|
neurotrophin 3
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PDK3
|
pyruvate dehydrogenase kinase, isozyme 3
|
|
PER2
|
period circadian clock 2
|
|
PFN2
|
profilin 2
|
|
PGK1
|
phosphoglycerate kinase 1
|
|
PGM1
|
phosphoglucomutase 1
|
|
PGR
|
progesterone receptor
|
|
PLEK
|
pleckstrin
|
|
PLEKHG5
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
|
PLEKHM3
|
pleckstrin homology domain containing, family M, member 3
|
|
PMP2
|
peripheral myelin protein 2
|
|
PMP22
|
peripheral myelin protein 22
|
|
PNKP
|
polynucleotide kinase 3'-phosphatase
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
PRB4
|
proline-rich protein BstNI subfamily 4
|
|
PRNP
|
prion protein
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRX
|
periaxin
|
|
PSIP1
|
PC4 and SFRS1 interacting protein 1
|
|
PXMP2
|
peroxisomal membrane protein 2, 22kDa
|
|
RAB11A
|
RAB11A, member RAS oncogene family
|
|
RAB18
|
RAB18, member RAS oncogene family
|
|
RAB7A
|
RAB7A, member RAS oncogene family
|
|
RAB7B
|
RAB7B, member RAS oncogene family
|
|
RAI1
|
retinoic acid induced 1
|
|
REN
|
renin
|
|
RER1
|
retention in endoplasmic reticulum sorting receptor 1
|
|
RFC1
|
replication factor C (activator 1) 1, 145kDa
|
|
RNMT
|
RNA (guanine-7-) methyltransferase
|
|
ROM1
|
retinal outer segment membrane protein 1
|
|
SACS
|
sacsin molecular chaperone
|
|
SBF1
|
SET binding factor 1
|
|
SBF2
|
SET binding factor 2
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SCN2B
|
sodium channel, voltage gated, type II beta subunit
|
|
SCO2
|
SCO2 cytochrome c oxidase assembly protein
|
|
SERPINC1
|
serpin peptidase inhibitor, clade C (antithrombin), member 1
|
|
SETX
|
senataxin
|
|
SGCA
|
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
|
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
|
SIGLEC7
|
sialic acid binding Ig-like lectin 7
|
|
SIPA1L2
|
signal-induced proliferation-associated 1 like 2
|
|
SLA2
|
Src-like-adaptor 2
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC25A46
|
solute carrier family 25, member 46
|
|
SLC2A4RG
|
SLC2A4 regulator
|
|
SLCO6A1
|
solute carrier organic anion transporter family, member 6A1
|
|
SLURP1
|
secreted LY6/PLAUR domain containing 1
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SMN2
|
survival of motor neuron 2, centromeric
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SNURF
|
SNRPN upstream reading frame
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SORT1
|
sortilin 1
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SPARC
|
secreted protein, acidic, cysteine-rich (osteonectin)
|
|
SPATA5
|
spermatogenesis associated 5
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPTLC1
|
serine palmitoyltransferase, long chain base subunit 1
|
|
SPTLC2
|
serine palmitoyltransferase, long chain base subunit 2
|
|
SRY
|
sex determining region Y
|
|
STMN1
|
stathmin 1
|
|
SURF1
|
surfeit 1
|
|
SYVN1
|
synovial apoptosis inhibitor 1, synoviolin
|
|
TARDBP
|
TAR DNA binding protein
|
|
TCF3
|
transcription factor 3
|
|
TEKT3
|
tektin 3
|
|
TFG
|
TRK-fused gene
|
|
TNF
|
tumor necrosis factor
|
|
TNFRSF1B
|
tumor necrosis factor receptor superfamily, member 1B
|
|
TOMM40
|
translocase of outer mitochondrial membrane 40 homolog (yeast)
|
|
TRIM2
|
tripartite motif containing 2
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TSG101
|
tumor susceptibility 101
|
|
TTN
|
titin
|
|
TTR
|
transthyretin
|
|
TUBA1B
|
tubulin, alpha 1b
|
|
VAC14
|
Vac14 homolog (S. cerevisiae)
|
|
VCP
|
valosin containing protein
|
|
WARS1
|
tryptophanyl-tRNA synthetase 1
|
|
WASHC5
|
WASH complex subunit 5
|
|
YARS1
|
tyrosyl-tRNA synthetase 1
|
|
YARS2
|
tyrosyl-tRNA synthetase 2, mitochondrial
|
|
ZNF645
|
zinc finger protein 645
|
