| Symbol |
Name |
|
ABCA7
|
ATP-binding cassette, sub-family A (ABC1), member 7
|
|
ADCY5
|
adenylate cyclase 5
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
AFP
|
alpha-fetoprotein
|
|
AHI1
|
Abelson helper integration site 1
|
|
ALDH3A2
|
aldehyde dehydrogenase 3 family, member A2
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
APTX
|
aprataxin
|
|
ARL13B
|
ADP-ribosylation factor-like 13B
|
|
ARL3
|
ADP-ribosylation factor-like 3
|
|
ARMC9
|
armadillo repeat containing 9
|
|
ATM
|
ATM serine/threonine kinase
|
|
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
|
|
CACNA1G
|
calcium channel, voltage-dependent, T type, alpha 1G subunit
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CEP104
|
centrosomal protein 104kDa
|
|
CEP120
|
centrosomal protein 120kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
CSTB
|
cystatin B (stefin B)
|
|
CWF19L1
|
CWF19-like 1, cell cycle control (S. pombe)
|
|
DHX30
|
DEAH (Asp-Glu-Ala-His) box helicase 30
|
|
DLAT
|
dihydrolipoamide S-acetyltransferase
|
|
DNM1L
|
dynamin 1-like
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
EXOSC3
|
exosome component 3
|
|
FA2H
|
fatty acid 2-hydroxylase
|
|
FOXG1
|
forkhead box G1
|
|
GBA
|
glucosidase, beta, acid
|
|
GPAA1
|
glycosylphosphatidylinositol anchor attachment 1
|
|
GRID2
|
glutamate receptor, ionotropic, delta 2
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
KIAA0556
|
KIAA0556
|
|
KIAA0586
|
KIAA0586
|
|
KIAA1109
|
KIAA1109
|
|
LAMA1
|
laminin, alpha 1
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MAPT
|
microtubule-associated protein tau
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MRE11
|
MRE11 homolog, double strand break repair nuclease
|
|
MYO9A
|
myosin IXA
|
|
NGLY1
|
N-glycanase 1
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PEX2
|
peroxisomal biogenesis factor 2
|
|
PGAP2
|
post-GPI attachment to proteins 2
|
|
PGAP3
|
post-GPI attachment to proteins 3
|
|
PIBF1
|
progesterone immunomodulatory binding factor 1
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIGO
|
phosphatidylinositol glycan anchor biosynthesis, class O
|
|
PIGV
|
phosphatidylinositol glycan anchor biosynthesis, class V
|
|
PIGW
|
phosphatidylinositol glycan anchor biosynthesis, class W
|
|
PIGY
|
phosphatidylinositol glycan anchor biosynthesis, class Y
|
|
PIK3R5
|
phosphoinositide-3-kinase, regulatory subunit 5
|
|
PNKP
|
polynucleotide kinase 3'-phosphatase
|
|
PSEN1
|
presenilin 1
|
|
PSEN2
|
presenilin 2
|
|
RORA
|
RAR-related orphan receptor A
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SETX
|
senataxin
|
|
SLC30A9
|
solute carrier family 30 (zinc transporter), member 9
|
|
SORL1
|
sortilin-related receptor, L(DLR class) A repeats containing
|
|
SPR
|
sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
|
|
SQSTM1
|
sequestosome 1
|
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
TCTN1
|
tectonic family member 1
|
|
TCTN2
|
tectonic family member 2
|
|
TMEM107
|
transmembrane protein 107
|
|
TMEM138
|
transmembrane protein 138
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM67
|
transmembrane protein 67
|
|
TOE1
|
target of EGR1, member 1 (nuclear)
|
|
TOMM40
|
translocase of outer mitochondrial membrane 40 homolog (yeast)
|
|
TPO
|
thyroid peroxidase
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TREM2
|
triggering receptor expressed on myeloid cells 2
|
|
TUBB3
|
tubulin, beta 3 class III
|
|
TYROBP
|
TYRO protein tyrosine kinase binding protein
|
|
UFC1
|
ubiquitin-fold modifier conjugating enzyme 1
|
|
XRCC1
|
X-ray repair complementing defective repair in Chinese hamster cells 1
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
