| Symbol |
Name |
|
ABCA1
|
ATP-binding cassette, sub-family A (ABC1), member 1
|
|
ABHD12
|
abhydrolase domain containing 12
|
|
AGL
|
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
ANG
|
angiogenin, ribonuclease, RNase A family, 5
|
|
APTX
|
aprataxin
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ATL1
|
atlastin GTPase 1
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATXN1
|
ataxin 1
|
|
ATXN2
|
ataxin 2
|
|
ATXN3
|
ataxin 3
|
|
B4GALNT1
|
beta-1,4-N-acetyl-galactosaminyl transferase 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
CCT5
|
chaperonin containing TCP1, subunit 5 (epsilon)
|
|
COASY
|
CoA synthase
|
|
DCAF8
|
DDB1 and CUL4 associated factor 8
|
|
DCTN1
|
dynactin 1
|
|
DNM2
|
dynamin 2
|
|
DOK7
|
docking protein 7
|
|
DYSF
|
dysferlin
|
|
EGR2
|
early growth response 2
|
|
FGD4
|
FYVE, RhoGEF and PH domain containing 4
|
|
FLNC
|
filamin C, gamma
|
|
GAN
|
gigaxonin
|
|
GARS
|
glycyl-tRNA synthetase
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
HSPB8
|
heat shock 22kDa protein 8
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
INF2
|
inverted formin, FH2 and WH2 domain containing
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KIF1B
|
kinesin family member 1B
|
|
KIF1C
|
kinesin family member 1C
|
|
LITAF
|
lipopolysaccharide-induced TNF factor
|
|
LMNA
|
lamin A/C
|
|
LRSAM1
|
leucine rich repeat and sterile alpha motif containing 1
|
|
MED25
|
mediator complex subunit 25
|
|
MFN2
|
mitofusin 2
|
|
MPZ
|
myelin protein zero
|
|
MRE11A
|
MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
|
|
MTMR2
|
myotubularin related protein 2
|
|
MYOT
|
myotilin
|
|
NDRG1
|
N-myc downstream regulated 1
|
|
NEFL
|
neurofilament, light polypeptide
|
|
PLEKHG5
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
|
PLOD3
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
|
|
PMP22
|
peripheral myelin protein 22
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRX
|
periaxin
|
|
RAB7A
|
RAB7A, member RAS oncogene family
|
|
REEP1
|
receptor accessory protein 1
|
|
SACS
|
sacsin molecular chaperone
|
|
SBF2
|
SET binding factor 2
|
|
SETX
|
senataxin
|
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
|
SLC39A13
|
solute carrier family 39 (zinc transporter), member 13
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SLC5A7
|
solute carrier family 5 (sodium/choline cotransporter), member 7
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPG20
|
spastic paraplegia 20 (Troyer syndrome)
|
|
TCAP
|
titin-cap
|
|
TDP1
|
tyrosyl-DNA phosphodiesterase 1
|
|
TIA1
|
TIA1 cytotoxic granule-associated RNA binding protein
|
|
TPM3
|
tropomyosin 3
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TYMP
|
thymidine phosphorylase
|
|
VCP
|
valosin containing protein
|
|
YARS
|
tyrosyl-tRNA synthetase
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
