| Symbol |
Name |
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ABHD12
|
abhydrolase domain containing 12
|
|
ACE
|
angiotensin I converting enzyme
|
|
ADH1B
|
alcohol dehydrogenase 1B (class I), beta polypeptide
|
|
AGT
|
angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
ALAD
|
aminolevulinate dehydratase
|
|
ALB
|
albumin
|
|
ALDH2
|
aldehyde dehydrogenase 2 family (mitochondrial)
|
|
AMPH
|
amphiphysin
|
|
APOA1
|
apolipoprotein A-I
|
|
ARL6IP1
|
ADP-ribosylation factor-like 6 interacting protein 1
|
|
ARSA
|
arylsulfatase A
|
|
ATP13A2
|
ATPase type 13A2
|
|
ATXN3
|
ataxin 3
|
|
B2M
|
beta-2-microglobulin
|
|
B3GAT1
|
beta-1,3-glucuronyltransferase 1
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BIVM-ERCC5
|
BIVM-ERCC5 readthrough
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
CAT
|
catalase
|
|
CD55
|
CD55 molecule, decay accelerating factor for complement (Cromer blood group)
|
|
CD59
|
CD59 molecule, complement regulatory protein
|
|
CD68
|
CD68 molecule
|
|
CLU
|
clusterin
|
|
COMT
|
catechol-O-methyltransferase
|
|
COQ7
|
coenzyme Q7 homolog, ubiquinone (yeast)
|
|
COX3
|
|
|
CRBN
|
cereblon
|
|
CRYAB
|
crystallin, alpha B
|
|
CWC22
|
CWC22 spliceosome-associated protein
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
DARS2
|
aspartyl-tRNA synthetase 2, mitochondrial
|
|
DCLRE1B
|
DNA cross-link repair 1B
|
|
DEGS1
|
delta(4)-desaturase, sphingolipid 1
|
|
DGUOK
|
deoxyguanosine kinase
|
|
DHH
|
desert hedgehog
|
|
DMXL2
|
Dmx-like 2
|
|
DNAJA3
|
DnaJ (Hsp40) homolog, subfamily A, member 3
|
|
DPYSL5
|
dihydropyrimidinase-like 5
|
|
DRP2
|
dystrophin related protein 2
|
|
EDNRB
|
endothelin receptor type B
|
|
EMP1
|
epithelial membrane protein 1
|
|
EPO
|
erythropoietin
|
|
ERCC5
|
excision repair cross-complementation group 5
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
FAM126A
|
family with sequence similarity 126, member A
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FAP
|
fibroblast activation protein, alpha
|
|
FCGR2A
|
Fc fragment of IgG, low affinity IIa, receptor (CD32)
|
|
FCGR3A
|
Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
|
|
FGD4
|
FYVE, RhoGEF and PH domain containing 4
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
GCLC
|
glutamate-cysteine ligase, catalytic subunit
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GNB3
|
guanine nucleotide binding protein (G protein), beta polypeptide 3
|
|
GPX1
|
glutathione peroxidase 1
|
|
GRM1
|
glutamate receptor, metabotropic 1
|
|
GSN
|
gelsolin
|
|
GSTP1
|
glutathione S-transferase pi 1
|
|
HADHB
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
|
|
HLA-DQA1
|
major histocompatibility complex, class II, DQ alpha 1
|
|
HLA-DQB1
|
major histocompatibility complex, class II, DQ beta 1
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HSPB2
|
heat shock 27kDa protein 2
|
|
HTR2C
|
5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
IL1B
|
interleukin 1, beta
|
|
IL6
|
interleukin 6
|
|
JPH1
|
junctophilin 1
|
|
KARS1
|
lysyl-tRNA synthetase 1
|
|
KIF1B
|
kinesin family member 1B
|
|
KRT20
|
keratin 20, type I
|
|
LDB3
|
LIM domain binding 3
|
|
LMNA
|
lamin A/C
|
|
MAD2L1BP
|
MAD2L1 binding protein
|
|
MAG
|
myelin associated glycoprotein
|
|
MAPK3
|
mitogen-activated protein kinase 3
|
|
MFN2
|
mitofusin 2
|
|
MME
|
membrane metallo-endopeptidase
|
|
MMP14
|
matrix metallopeptidase 14 (membrane-inserted)
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
|
MPZ
|
myelin protein zero
|
|
MS4A1
|
membrane-spanning 4-domains, subfamily A, member 1
|
|
MT-ATP6
|
ATP synthase F0 subunit 6
|
|
MT-CYB
|
cytochrome b
|
|
MT-ND2
|
MTND2
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND4L
|
NADH dehydrogenase, subunit 4L (complex I)
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MYD88
|
myeloid differentiation primary response 88
|
|
MYOT
|
myotilin
|
|
NAA50
|
N(alpha)-acetyltransferase 50, NatE catalytic subunit
|
|
NAGS
|
N-acetylglutamate synthase
|
|
NCAM1
|
neural cell adhesion molecule 1
|
|
ND1
|
|
|
NEO1
|
neogenin 1
|
|
NF2
|
neurofibromin 2 (merlin)
|
|
NGLY1
|
N-glycanase 1
|
|
NMNAT2
|
nicotinamide nucleotide adenylyltransferase 2
|
|
NRSN1
|
neurensin 1
|
|
NTNG2
|
netrin G2
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
PARK7
|
parkinson protein 7
|
|
PDK3
|
pyruvate dehydrogenase kinase, isozyme 3
|
|
PDXK
|
pyridoxal (pyridoxine, vitamin B6) kinase
|
|
PDYN
|
prodynorphin
|
|
PEX11B
|
peroxisomal biogenesis factor 11 beta
|
|
PEX12
|
peroxisomal biogenesis factor 12
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PHEX
|
phosphate regulating endopeptidase homolog, X-linked
|
|
PIK3R5
|
phosphoinositide-3-kinase, regulatory subunit 5
|
|
PMM2
|
phosphomannomutase 2
|
|
PMP22
|
peripheral myelin protein 22
|
|
PNKP
|
polynucleotide kinase 3'-phosphatase
|
|
PNP
|
purine nucleoside phosphorylase
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POMC
|
proopiomelanocortin
|
|
POSTN
|
periostin, osteoblast specific factor
|
|
PRNP
|
prion protein
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PSAP
|
prosaposin
|
|
PTPN13
|
protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)
|
|
REEP1
|
receptor accessory protein 1
|
|
RPIA
|
ribose 5-phosphate isomerase A
|
|
S100B
|
S100 calcium binding protein B
|
|
SACS
|
sacsin molecular chaperone
|
|
SBF1
|
SET binding factor 1
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SCO2
|
SCO2 cytochrome c oxidase assembly protein
|
|
SCP2
|
sterol carrier protein 2
|
|
SEPT9
|
septin 9
|
|
SERPINA7
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
|
|
SETX
|
senataxin
|
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC25A19
|
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
|
|
SLC5A5
|
solute carrier family 5 (sodium/iodide cotransporter), member 5
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SOX1
|
SRY (sex determining region Y)-box 1
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPP1
|
secreted phosphoprotein 1
|
|
SURF1
|
surfeit 1
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TKT
|
transketolase
|
|
TRIM21
|
tripartite motif containing 21
|
|
TTR
|
transthyretin
|
|
VEGFA
|
vascular endothelial growth factor A
|
