| Symbol |
Name |
|
AARS
|
alanyl-tRNA synthetase
|
|
ABCD3
|
ATP-binding cassette, sub-family D (ALD), member 3
|
|
ACO2
|
aconitase 2, mitochondrial
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ALG1
|
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
|
|
ALG6
|
ALG6, alpha-1,3-glucosyltransferase
|
|
APTX
|
aprataxin
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ATXN1
|
ataxin 1
|
|
ATXN3
|
ataxin 3
|
|
BICD2
|
bicaudal D homolog 2 (Drosophila)
|
|
BIN1
|
bridging integrator 1
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
CD59
|
CD59 molecule, complement regulatory protein
|
|
CFL2
|
cofilin 2 (muscle)
|
|
CHCHD10
|
coiled-coil-helix-coiled-coil-helix domain containing 10
|
|
CHMP2B
|
charged multivesicular body protein 2B
|
|
CNTN1
|
contactin 1
|
|
DCAF8
|
DDB1 and CUL4 associated factor 8
|
|
DNAJB2
|
DnaJ (Hsp40) homolog, subfamily B, member 2
|
|
DNM1L
|
dynamin 1-like
|
|
DNM2
|
dynamin 2
|
|
DST
|
dystonin
|
|
DYSF
|
dysferlin
|
|
EGR2
|
early growth response 2
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
FAM134B
|
family with sequence similarity 134, member B
|
|
FGD4
|
FYVE, RhoGEF and PH domain containing 4
|
|
FHL1
|
four and a half LIM domains 1
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FKTN
|
fukutin
|
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
|
FXN
|
frataxin
|
|
GAA
|
glucosidase, alpha; acid
|
|
GAN
|
gigaxonin
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GOSR2
|
golgi SNAP receptor complex member 2
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
HSPB3
|
heat shock 27kDa protein 3
|
|
HSPB8
|
heat shock 22kDa protein 8
|
|
INF2
|
inverted formin, FH2 and WH2 domain containing
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
JAG1
|
jagged 1
|
|
KARS
|
lysyl-tRNA synthetase
|
|
KIF1A
|
kinesin family member 1A
|
|
KIF1B
|
kinesin family member 1B
|
|
LAMA2
|
laminin, alpha 2
|
|
LAMB2
|
laminin, beta 2 (laminin S)
|
|
LARGE
|
like-glycosyltransferase
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LMNA
|
lamin A/C
|
|
LPIN1
|
lipin 1
|
|
LRSAM1
|
leucine rich repeat and sterile alpha motif containing 1
|
|
MED25
|
mediator complex subunit 25
|
|
MEGF10
|
multiple EGF-like-domains 10
|
|
MFN2
|
mitofusin 2
|
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
|
MPZ
|
myelin protein zero
|
|
MTM1
|
myotubularin 1
|
|
MYH14
|
myosin, heavy chain 14, non-muscle
|
|
MYOT
|
myotilin
|
|
NDRG1
|
N-myc downstream regulated 1
|
|
NEB
|
nebulin
|
|
NEFL
|
neurofilament, light polypeptide
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
ORAI1
|
ORAI calcium release-activated calcium modulator 1
|
|
PDSS1
|
prenyl (decaprenyl) diphosphate synthase, subunit 1
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PIK3R5
|
phosphoinositide-3-kinase, regulatory subunit 5
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLEKHG5
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
|
PMP22
|
peripheral myelin protein 22
|
|
PNPLA2
|
patatin-like phospholipase domain containing 2
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PRICKLE2
|
prickle homolog 2 (Drosophila)
|
|
PRNP
|
prion protein
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRX
|
periaxin
|
|
RAB7A
|
RAB7A, member RAS oncogene family
|
|
RAI1
|
retinoic acid induced 1
|
|
REEP1
|
receptor accessory protein 1
|
|
RMND1
|
required for meiotic nuclear division 1 homolog (S. cerevisiae)
|
|
RNF170
|
ring finger protein 170
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SACS
|
sacsin molecular chaperone
|
|
SBF1
|
SET binding factor 1
|
|
SBF2
|
SET binding factor 2
|
|
SETX
|
senataxin
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SPEG
|
SPEG complex locus
|
|
SPTLC1
|
serine palmitoyltransferase, long chain base subunit 1
|
|
STIM1
|
stromal interaction molecule 1
|
|
TCAP
|
titin-cap
|
|
TECPR2
|
tectonin beta-propeller repeat containing 2
|
|
TRIM2
|
tripartite motif containing 2
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TTPA
|
tocopherol (alpha) transfer protein
|
|
TYMP
|
thymidine phosphorylase
|
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
|
VAPB
|
VAMP (vesicle-associated membrane protein)-associated protein B and C
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
WNK1
|
WNK lysine deficient protein kinase 1
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
