| Symbol |
Name |
|
AARS
|
alanyl-tRNA synthetase
|
|
ABHD12
|
abhydrolase domain containing 12
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ADCK3
|
aarF domain containing kinase 3
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
ANO10
|
anoctamin 10
|
|
ANOS1
|
anosmin 1
|
|
APTX
|
aprataxin
|
|
ATL1
|
atlastin GTPase 1
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B4GALNT1
|
beta-1,4-N-acetyl-galactosaminyl transferase 1
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BIN1
|
bridging integrator 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
CAV3
|
caveolin 3
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHMP1A
|
charged multivesicular body protein 1A
|
|
COASY
|
CoA synthase
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
CUL4B
|
cullin 4B
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
DCAF8
|
DDB1 and CUL4 associated factor 8
|
|
DDHD1
|
DDHD domain containing 1
|
|
DNAJB2
|
DnaJ (Hsp40) homolog, subfamily B, member 2
|
|
DNM2
|
dynamin 2
|
|
DUSP6
|
dual specificity phosphatase 6
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
EGR2
|
early growth response 2
|
|
ERLIN2
|
ER lipid raft associated 2
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
FBN1
|
fibrillin 1
|
|
FBXO38
|
F-box protein 38
|
|
FEZF1
|
FEZ family zinc finger 1
|
|
FGD4
|
FYVE, RhoGEF and PH domain containing 4
|
|
FGF14
|
fibroblast growth factor 14
|
|
FGF17
|
fibroblast growth factor 17
|
|
FGF8
|
fibroblast growth factor 8 (androgen-induced)
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FLRT3
|
fibronectin leucine rich transmembrane protein 3
|
|
FXN
|
frataxin
|
|
GAN
|
gigaxonin
|
|
GARS
|
glycyl-tRNA synthetase
|
|
GBA
|
glucosidase, beta, acid
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GNB4
|
guanine nucleotide binding protein (G protein), beta polypeptide 4
|
|
HESX1
|
HESX homeobox 1
|
|
HS6ST1
|
heparan sulfate 6-O-sulfotransferase 1
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
HSPB8
|
heat shock 22kDa protein 8
|
|
IDS
|
iduronate 2-sulfatase
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IL17RD
|
interleukin 17 receptor D
|
|
INF2
|
inverted formin, FH2 and WH2 domain containing
|
|
KARS
|
lysyl-tRNA synthetase
|
|
KIAA0196
|
KIAA0196
|
|
KIF1B
|
kinesin family member 1B
|
|
KIF5A
|
kinesin family member 5A
|
|
KISS1R
|
KISS1 receptor
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
LAMP2
|
lysosomal-associated membrane protein 2
|
|
LBR
|
lamin B receptor
|
|
LITAF
|
lipopolysaccharide-induced TNF factor
|
|
LMNA
|
lamin A/C
|
|
LRSAM1
|
leucine rich repeat and sterile alpha motif containing 1
|
|
MAFB
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MFN2
|
mitofusin 2
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MPZ
|
myelin protein zero
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
NEFL
|
neurofilament, light polypeptide
|
|
NIPA1
|
non imprinted in Prader-Willi/Angelman syndrome 1
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NSMF
|
NMDA receptor synaptonuclear signaling and neuronal migration factor
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
PCNA
|
proliferating cell nuclear antigen
|
|
PDK3
|
pyruvate dehydrogenase kinase, isozyme 3
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PLEKHG5
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
|
PLP1
|
proteolipid protein 1
|
|
PMP22
|
peripheral myelin protein 22
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PRICKLE2
|
prickle homolog 2 (Drosophila)
|
|
PROK2
|
prokineticin 2
|
|
PROKR2
|
prokineticin receptor 2
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRX
|
periaxin
|
|
RAB7A
|
RAB7A, member RAS oncogene family
|
|
REEP1
|
receptor accessory protein 1
|
|
REEP2
|
receptor accessory protein 2
|
|
RET
|
ret proto-oncogene
|
|
RTN2
|
reticulon 2
|
|
SACS
|
sacsin molecular chaperone
|
|
SBF2
|
SET binding factor 2
|
|
SEMA3A
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
|
|
SETX
|
senataxin
|
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
|
SLC33A1
|
solute carrier family 33 (acetyl-CoA transporter), member 1
|
|
SLC5A7
|
solute carrier family 5 (sodium/choline cotransporter), member 7
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPG20
|
spastic paraplegia 20 (Troyer syndrome)
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SPRY4
|
sprouty homolog 4 (Drosophila)
|
|
SPTLC1
|
serine palmitoyltransferase, long chain base subunit 1
|
|
TACR3
|
tachykinin receptor 3
|
|
TDP1
|
tyrosyl-DNA phosphodiesterase 1
|
|
TPM3
|
tropomyosin 3
|
|
TRIM2
|
tripartite motif containing 2
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TTPA
|
tocopherol (alpha) transfer protein
|
|
VAMP1
|
vesicle-associated membrane protein 1 (synaptobrevin 1)
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
WDR11
|
WD repeat domain 11
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
