| Symbol |
Name |
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
AIMP1
|
aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
ATL1
|
atlastin GTPase 1
|
|
ATP13A2
|
ATPase type 13A2
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CCT5
|
chaperonin containing TCP1, subunit 5 (epsilon)
|
|
COASY
|
CoA synthase
|
|
CYP2U1
|
cytochrome P450, family 2, subfamily U, polypeptide 1
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
DDHD1
|
DDHD domain containing 1
|
|
DDHD2
|
DDHD domain containing 2
|
|
EDNRB
|
endothelin receptor type B
|
|
GAN
|
gigaxonin
|
|
GBA
|
glucosidase, beta, acid
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
HSPD1
|
heat shock 60kDa protein 1 (chaperonin)
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KIAA0196
|
KIAA0196
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
MTPAP
|
mitochondrial poly(A) polymerase
|
|
NF1
|
neurofibromin 1
|
|
NIPA1
|
non imprinted in Prader-Willi/Angelman syndrome 1
|
|
PAX3
|
paired box 3
|
|
PDHX
|
pyruvate dehydrogenase complex, component X
|
|
PLP1
|
proteolipid protein 1
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
REEP1
|
receptor accessory protein 1
|
|
RTN2
|
reticulon 2
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC19A3
|
solute carrier family 19 (thiamine transporter), member 3
|
|
SLC25A15
|
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC30A10
|
solute carrier family 30, member 10
|
|
SLC33A1
|
solute carrier family 33 (acetyl-CoA transporter), member 1
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SPAST
|
spastin
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPG20
|
spastic paraplegia 20 (Troyer syndrome)
|
|
SPG21
|
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SQSTM1
|
sequestosome 1
|
|
STXBP1
|
syntaxin binding protein 1
|
|
TNFRSF11A
|
tumor necrosis factor receptor superfamily, member 11a, NFKB activator
|
|
TTC19
|
tetratricopeptide repeat domain 19
|
|
TTR
|
transthyretin
|
|
VAMP1
|
vesicle-associated membrane protein 1 (synaptobrevin 1)
|
|
WDR45
|
WD repeat domain 45
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
