| Symbol |
Name |
|
ABCA1
|
ATP-binding cassette, sub-family A (ABC1), member 1
|
|
ABCC1
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 1
|
|
ALDH3A2
|
aldehyde dehydrogenase 3 family, member A2
|
|
APTX
|
aprataxin
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
BUD31
|
BUD31 homolog (S. cerevisiae)
|
|
CACNB4
|
calcium channel, voltage-dependent, beta 4 subunit
|
|
CCL2
|
chemokine (C-C motif) ligand 2
|
|
CNTF
|
ciliary neurotrophic factor
|
|
CNTNAP1
|
contactin associated protein 1
|
|
COQ8A
|
coenzyme Q8A
|
|
CSF1
|
colony stimulating factor 1 (macrophage)
|
|
DBH
|
dopamine beta-hydroxylase (dopamine beta-monooxygenase)
|
|
DCTN2
|
dynactin 2 (p50)
|
|
DNAJB2
|
DnaJ (Hsp40) homolog, subfamily B, member 2
|
|
DST
|
dystonin
|
|
EGR2
|
early growth response 2
|
|
FBLN5
|
fibulin 5
|
|
FGF14
|
fibroblast growth factor 14
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FXN
|
frataxin
|
|
GAN
|
gigaxonin
|
|
GARS
|
glycyl-tRNA synthetase
|
|
GART
|
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GOT2
|
glutamic-oxaloacetic transaminase 2, mitochondrial
|
|
HINT1
|
histidine triad nucleotide binding protein 1
|
|
HK1
|
hexokinase 1
|
|
HSP90AA1
|
heat shock protein 90kDa alpha (cytosolic), class A member 1
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
HSPB2
|
heat shock 27kDa protein 2
|
|
HSPB3
|
heat shock 27kDa protein 3
|
|
HSPB8
|
heat shock 22kDa protein 8
|
|
ICOS
|
inducible T-cell co-stimulator
|
|
IGFALS
|
insulin-like growth factor binding protein, acid labile subunit
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
INF2
|
inverted formin, FH2 and WH2 domain containing
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
KARS1
|
lysyl-tRNA synthetase 1
|
|
KCNA1
|
potassium channel, voltage gated shaker related subfamily A, member 1
|
|
KCNC3
|
potassium channel, voltage gated Shaw related subfamily C, member 3
|
|
KIF1B
|
kinesin family member 1B
|
|
KIF5A
|
kinesin family member 5A
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
LITAF
|
lipopolysaccharide-induced TNF factor
|
|
LMNA
|
lamin A/C
|
|
LPAR1
|
lysophosphatidic acid receptor 1
|
|
LRIG3
|
leucine-rich repeats and immunoglobulin-like domains 3
|
|
MAD2L1BP
|
MAD2L1 binding protein
|
|
MFN2
|
mitofusin 2
|
|
MPZ
|
myelin protein zero
|
|
MRE11
|
MRE11 homolog, double strand break repair nuclease
|
|
MTM1
|
myotubularin 1
|
|
MTMR2
|
myotubularin related protein 2
|
|
MTTP
|
microsomal triglyceride transfer protein
|
|
MYO1A
|
myosin IA
|
|
NDRG1
|
N-myc downstream regulated 1
|
|
NGF
|
nerve growth factor (beta polypeptide)
|
|
NIPA1
|
non imprinted in Prader-Willi/Angelman syndrome 1
|
|
NTF3
|
neurotrophin 3
|
|
NTNG1
|
netrin G1
|
|
NTRK1
|
neurotrophic tyrosine kinase, receptor, type 1
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PLP1
|
proteolipid protein 1
|
|
PMP22
|
peripheral myelin protein 22
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
PRKCG
|
protein kinase C, gamma
|
|
PRX
|
periaxin
|
|
PXMP2
|
peroxisomal membrane protein 2, 22kDa
|
|
RFC1
|
replication factor C (activator 1) 1, 145kDa
|
|
RNMT
|
RNA (guanine-7-) methyltransferase
|
|
SACS
|
sacsin molecular chaperone
|
|
SBF2
|
SET binding factor 2
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SLC1A3
|
solute carrier family 1 (glial high affinity glutamate transporter), member 3
|
|
SLC5A7
|
solute carrier family 5 (sodium/choline cotransporter), member 7
|
|
SLIT3
|
slit homolog 3 (Drosophila)
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SPART
|
spartin
|
|
SPAST
|
spastin
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPG21
|
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SPTBN2
|
spectrin, beta, non-erythrocytic 2
|
|
SPTLC1
|
serine palmitoyltransferase, long chain base subunit 1
|
|
SRI
|
sorcin
|
|
TDP1
|
tyrosyl-DNA phosphodiesterase 1
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TTBK2
|
tau tubulin kinase 2
|
|
TTPA
|
tocopherol (alpha) transfer protein
|
|
TTR
|
transthyretin
|
|
TWNK
|
twinkle mtDNA helicase
|
|
WARS1
|
tryptophanyl-tRNA synthetase 1
|
|
WASHC5
|
WASH complex subunit 5
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
|
ZFYVE27
|
zinc finger, FYVE domain containing 27
|
