| Symbol |
Name |
|
AARS2
|
alanyl-tRNA synthetase 2, mitochondrial
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
AHI1
|
Abelson helper integration site 1
|
|
APTX
|
aprataxin
|
|
ARL13B
|
ADP-ribosylation factor-like 13B
|
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
|
ATXN2
|
ataxin 2
|
|
B9D1
|
B9 protein domain 1
|
|
BCR
|
breakpoint cluster region
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CLPP
|
caseinolytic mitochondrial matrix peptidase proteolytic subunit
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
CSF1R
|
colony stimulating factor 1 receptor
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
DLAT
|
dihydrolipoamide S-acetyltransferase
|
|
EPM2A
|
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
|
|
EXOSC3
|
exosome component 3
|
|
FOXG1
|
forkhead box G1
|
|
FOXP2
|
forkhead box P2
|
|
GBA
|
glucosidase, beta, acid
|
|
GRIN2A
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2A
|
|
GRN
|
granulin
|
|
HARS2
|
histidyl-tRNA synthetase 2, mitochondrial
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
IFT172
|
intraflagellar transport 172
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
KIF7
|
kinesin family member 7
|
|
LAMA1
|
laminin, alpha 1
|
|
LARS2
|
leucyl-tRNA synthetase 2, mitochondrial
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MAPT
|
microtubule-associated protein tau
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MRE11A
|
MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
|
|
NHLRC1
|
NHL repeat containing E3 ubiquitin protein ligase 1
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PANK2
|
pantothenate kinase 2
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PIK3R5
|
phosphoinositide-3-kinase, regulatory subunit 5
|
|
PRNP
|
prion protein
|
|
PSEN1
|
presenilin 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SETX
|
senataxin
|
|
SPG21
|
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
|
|
SPR
|
sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
|
|
SRPX2
|
sushi-repeat containing protein, X-linked 2
|
|
SYNJ1
|
synaptojanin 1
|
|
TBP
|
TATA box binding protein
|
|
TCTN1
|
tectonic family member 1
|
|
TCTN2
|
tectonic family member 2
|
|
TCTN3
|
tectonic family member 3
|
|
TMEM138
|
transmembrane protein 138
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM67
|
transmembrane protein 67
|
|
TREM2
|
triggering receptor expressed on myeloid cells 2
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TTC19
|
tetratricopeptide repeat domain 19
|
|
TYROBP
|
TYRO protein tyrosine kinase binding protein
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
|
ZNF592
|
zinc finger protein 592
|
