| Symbol |
Name |
|
AARS
|
alanyl-tRNA synthetase
|
|
ABCA1
|
ATP-binding cassette, sub-family A (ABC1), member 1
|
|
ABHD12
|
abhydrolase domain containing 12
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
AMN
|
amnion associated transmembrane protein
|
|
APTX
|
aprataxin
|
|
ATL1
|
atlastin GTPase 1
|
|
ATP13A2
|
ATPase type 13A2
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATXN1
|
ataxin 1
|
|
ATXN2
|
ataxin 2
|
|
ATXN3
|
ataxin 3
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CCT5
|
chaperonin containing TCP1, subunit 5 (epsilon)
|
|
CUBN
|
cubilin (intrinsic factor-cobalamin receptor)
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
DCAF8
|
DDB1 and CUL4 associated factor 8
|
|
DDHD1
|
DDHD domain containing 1
|
|
DNM2
|
dynamin 2
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
EGR2
|
early growth response 2
|
|
FBN1
|
fibrillin 1
|
|
FGD4
|
FYVE, RhoGEF and PH domain containing 4
|
|
FGF14
|
fibroblast growth factor 14
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
|
FMR1
|
fragile X mental retardation 1
|
|
FXN
|
frataxin
|
|
GAN
|
gigaxonin
|
|
GARS
|
glycyl-tRNA synthetase
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GIF
|
gastric intrinsic factor (vitamin B synthesis)
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GMPPA
|
GDP-mannose pyrophosphorylase A
|
|
GNB4
|
guanine nucleotide binding protein (G protein), beta polypeptide 4
|
|
GPI
|
glucose-6-phosphate isomerase
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
HDAC4
|
histone deacetylase 4
|
|
HPGD
|
hydroxyprostaglandin dehydrogenase 15-(NAD)
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
HSPB8
|
heat shock 22kDa protein 8
|
|
HSPD1
|
heat shock 60kDa protein 1 (chaperonin)
|
|
IGF2
|
insulin-like growth factor 2
|
|
IKBKAP
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
|
INF2
|
inverted formin, FH2 and WH2 domain containing
|
|
KARS
|
lysyl-tRNA synthetase
|
|
KCNQ1OT1
|
KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
|
|
KIAA0196
|
KIAA0196
|
|
KIF1B
|
kinesin family member 1B
|
|
KIF5A
|
kinesin family member 5A
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LITAF
|
lipopolysaccharide-induced TNF factor
|
|
LMNA
|
lamin A/C
|
|
LRSAM1
|
leucine rich repeat and sterile alpha motif containing 1
|
|
MATR3
|
matrin 3
|
|
MED25
|
mediator complex subunit 25
|
|
MFN2
|
mitofusin 2
|
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
|
MPZ
|
myelin protein zero
|
|
MTMR2
|
myotubularin related protein 2
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NDRG1
|
N-myc downstream regulated 1
|
|
NEFL
|
neurofilament, light polypeptide
|
|
NGF
|
nerve growth factor (beta polypeptide)
|
|
NIPA1
|
non imprinted in Prader-Willi/Angelman syndrome 1
|
|
NTRK1
|
neurotrophic tyrosine kinase, receptor, type 1
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
PDYN
|
prodynorphin
|
|
PGM3
|
phosphoglucomutase 3
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PLEKHG5
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
|
PMP22
|
peripheral myelin protein 22
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
PRKCG
|
protein kinase C, gamma
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRX
|
periaxin
|
|
RAI1
|
retinoic acid induced 1
|
|
REEP1
|
receptor accessory protein 1
|
|
RNF170
|
ring finger protein 170
|
|
RTN2
|
reticulon 2
|
|
SACS
|
sacsin molecular chaperone
|
|
SAR1B
|
secretion associated, Ras related GTPase 1B
|
|
SBF1
|
SET binding factor 1
|
|
SBF2
|
SET binding factor 2
|
|
SCN11A
|
sodium channel, voltage gated, type XI alpha subunit
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SERPINI1
|
serpin peptidase inhibitor, clade I (neuroserpin), member 1
|
|
SETX
|
senataxin
|
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SLC25A15
|
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
|
|
SLCO2A1
|
solute carrier organic anion transporter family, member 2A1
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SPAST
|
spastin
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SPTBN2
|
spectrin, beta, non-erythrocytic 2
|
|
SPTLC1
|
serine palmitoyltransferase, long chain base subunit 1
|
|
SPTLC2
|
serine palmitoyltransferase, long chain base subunit 2
|
|
TBP
|
TATA box binding protein
|
|
TFG
|
TRK-fused gene
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TYMP
|
thymidine phosphorylase
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
YARS
|
tyrosyl-tRNA synthetase
|
