| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
AARS
|
alanyl-tRNA synthetase
|
|
ABCA1
|
ATP-binding cassette, sub-family A (ABC1), member 1
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
APTX
|
aprataxin
|
|
ATL1
|
atlastin GTPase 1
|
|
ATL3
|
atlastin GTPase 3
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
CCT5
|
chaperonin containing TCP1, subunit 5 (epsilon)
|
|
COASY
|
CoA synthase
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
DARS2
|
aspartyl-tRNA synthetase 2, mitochondrial
|
|
DDHD1
|
DDHD domain containing 1
|
|
DNM2
|
dynamin 2
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
ELOVL5
|
ELOVL fatty acid elongase 5
|
|
FAM134B
|
family with sequence similarity 134, member B
|
|
FGF14
|
fibroblast growth factor 14
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
GAN
|
gigaxonin
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GNB4
|
guanine nucleotide binding protein (G protein), beta polypeptide 4
|
|
HINT1
|
histidine triad nucleotide binding protein 1
|
|
HK1
|
hexokinase 1
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
HSPB8
|
heat shock 22kDa protein 8
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
INF2
|
inverted formin, FH2 and WH2 domain containing
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
KIF1A
|
kinesin family member 1A
|
|
KIF1B
|
kinesin family member 1B
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LMNA
|
lamin A/C
|
|
LRSAM1
|
leucine rich repeat and sterile alpha motif containing 1
|
|
MFN2
|
mitofusin 2
|
|
MOCS1
|
molybdenum cofactor synthesis 1
|
|
MOCS2
|
molybdenum cofactor synthesis 2
|
|
MPZ
|
myelin protein zero
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
NDRG1
|
N-myc downstream regulated 1
|
|
NEFL
|
neurofilament, light polypeptide
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
PRICKLE1
|
prickle homolog 1 (Drosophila)
|
|
RAB7A
|
RAB7A, member RAS oncogene family
|
|
SEPT9
|
septin 9
|
|
SERPING1
|
serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
|
|
SETX
|
senataxin
|
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC25A19
|
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
|
|
SPTLC1
|
serine palmitoyltransferase, long chain base subunit 1
|
|
TDP1
|
tyrosyl-DNA phosphodiesterase 1
|
|
TREM2
|
triggering receptor expressed on myeloid cells 2
|
|
TRIM2
|
tripartite motif containing 2
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TTR
|
transthyretin
|
|
TUBB3
|
tubulin, beta 3 class III
|
|
TYROBP
|
TYRO protein tyrosine kinase binding protein
|
|
YARS
|
tyrosyl-tRNA synthetase
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
