| Symbol |
Name |
|
AARS
|
alanyl-tRNA synthetase
|
|
AARS2
|
alanyl-tRNA synthetase 2, mitochondrial
|
|
AASS
|
aminoadipate-semialdehyde synthase
|
|
ABCA5
|
ATP-binding cassette, sub-family A (ABC1), member 5
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ABHD12
|
abhydrolase domain containing 12
|
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
|
ADRA2B
|
adrenoceptor alpha 2B
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
AIMP1
|
aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
|
|
ALDH5A1
|
aldehyde dehydrogenase 5 family, member A1
|
|
ALDH7A1
|
aldehyde dehydrogenase 7 family, member A1
|
|
ALG3
|
ALG3, alpha-1,3- mannosyltransferase
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ARFGEF2
|
ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
|
|
ARG1
|
arginase 1
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ARHGEF10
|
Rho guanine nucleotide exchange factor (GEF) 10
|
|
ARSA
|
arylsulfatase A
|
|
ARX
|
aristaless related homeobox
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ASL
|
argininosuccinate lyase
|
|
ASNS
|
asparagine synthetase (glutamine-hydrolyzing)
|
|
ASPA
|
aspartoacylase
|
|
ATP10A
|
ATPase, class V, type 10A
|
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
|
ATXN1
|
ataxin 1
|
|
ATXN10
|
ataxin 10
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CCT5
|
chaperonin containing TCP1, subunit 5 (epsilon)
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CEP126
|
centrosomal protein 126kDa
|
|
CHD2
|
chromodomain helicase DNA binding protein 2
|
|
CLN5
|
ceroid-lipofuscinosis, neuronal 5
|
|
CLN6
|
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
|
|
CLN8
|
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
|
|
CLPP
|
caseinolytic mitochondrial matrix peptidase proteolytic subunit
|
|
CNTN2
|
contactin 2 (axonal)
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CREBBP
|
CREB binding protein
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
CYFIP1
|
cytoplasmic FMR1 interacting protein 1
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
DCAF8
|
DDB1 and CUL4 associated factor 8
|
|
DIAPH3
|
diaphanous-related formin 3
|
|
DISC2
|
disrupted in schizophrenia 2 (non-protein coding)
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
DOCK7
|
dedicator of cytokinesis 7
|
|
DOLK
|
dolichol kinase
|
|
DPM1
|
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
EDNRB
|
endothelin receptor type B
|
|
EGR2
|
early growth response 2
|
|
EMX2
|
empty spiracles homeobox 2
|
|
EOGT
|
EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC3
|
excision repair cross-complementation group 3
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
ERMARD
|
ER membrane-associated RNA degradation
|
|
FAM126A
|
family with sequence similarity 126, member A
|
|
FARS2
|
phenylalanyl-tRNA synthetase 2, mitochondrial
|
|
FBN1
|
fibrillin 1
|
|
FGD4
|
FYVE, RhoGEF and PH domain containing 4
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
|
FOXG1
|
forkhead box G1
|
|
FXN
|
frataxin
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GALC
|
galactosylceramidase
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GLYCTK
|
glycerate kinase
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GNAO1
|
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
|
|
GRIN2A
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2A
|
|
GRIN2B
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
|
|
GRN
|
granulin
|
|
HARS2
|
histidyl-tRNA synthetase 2, mitochondrial
|
|
HCFC1
|
host cell factor C1
|
|
HIC1
|
hypermethylated in cancer 1
|
|
HK1
|
hexokinase 1
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
HSPB8
|
heat shock 22kDa protein 8
|
|
HTT
|
huntingtin
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IER3IP1
|
immediate early response 3 interacting protein 1
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
INS
|
insulin
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KCNMA1
|
potassium channel, calcium activated large conductance subfamily M alpha, member 1
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KIAA2022
|
KIAA2022
|
|
KIF1B
|
kinesin family member 1B
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LAMB2
|
laminin, beta 2 (laminin S)
|
|
LAMC3
|
laminin, gamma 3
|
|
LARGE
|
like-glycosyltransferase
|
|
LARS2
|
leucyl-tRNA synthetase 2, mitochondrial
|
|
LITAF
|
lipopolysaccharide-induced TNF factor
|
|
LMNA
|
lamin A/C
|
|
LYST
|
lysosomal trafficking regulator
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MATR3
|
matrin 3
|
|
MCOLN1
|
mucolipin 1
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED17
|
mediator complex subunit 17
|
|
MED25
|
mediator complex subunit 25
|
|
MFN2
|
mitofusin 2
|
|
MFSD8
|
major facilitator superfamily domain containing 8
|
|
MPST
|
mercaptopyruvate sulfurtransferase
|
|
MPZ
|
myelin protein zero
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MT-TF
|
tRNA
|
|
MT-TH
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
MTMR2
|
myotubularin related protein 2
|
|
MTRR
|
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
NALCN
|
sodium leak channel, non selective
|
|
ND1
|
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NDRG1
|
N-myc downstream regulated 1
|
|
NEFL
|
neurofilament, light polypeptide
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NF1
|
neurofibromin 1
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NLGN4X
|
neuroligin 4, X-linked
|
|
NOTCH1
|
notch 1
|
|
NOTCH3
|
notch 3
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NTNG1
|
netrin G1
|
|
OCA2
|
oculocutaneous albinism II
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
OTOF
|
otoferlin
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PCK1
|
phosphoenolpyruvate carboxykinase 1 (soluble)
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX10
|
peroxisomal biogenesis factor 10
|
|
PEX11B
|
peroxisomal biogenesis factor 11 beta
|
|
PEX12
|
peroxisomal biogenesis factor 12
|
|
PEX13
|
peroxisomal biogenesis factor 13
|
|
PEX14
|
peroxisomal biogenesis factor 14
|
|
PEX16
|
peroxisomal biogenesis factor 16
|
|
PEX19
|
peroxisomal biogenesis factor 19
|
|
PEX2
|
peroxisomal biogenesis factor 2
|
|
PEX26
|
peroxisomal biogenesis factor 26
|
|
PEX3
|
peroxisomal biogenesis factor 3
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PEX6
|
peroxisomal biogenesis factor 6
|
|
PHF6
|
PHD finger protein 6
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PIGT
|
phosphatidylinositol glycan anchor biosynthesis, class T
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLCB1
|
phospholipase C, beta 1 (phosphoinositide-specific)
|
|
PMP22
|
peripheral myelin protein 22
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PRDM16
|
PR domain containing 16
|
|
PRICKLE2
|
prickle homolog 2 (Drosophila)
|
|
PRODH
|
proline dehydrogenase (oxidase) 1
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
PRX
|
periaxin
|
|
PSAP
|
prosaposin
|
|
PVRL1
|
poliovirus receptor-related 1 (herpesvirus entry mediator C)
|
|
RAB7A
|
RAB7A, member RAS oncogene family
|
|
RAI1
|
retinoic acid induced 1
|
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
ROGDI
|
rogdi homolog (Drosophila)
|
|
RTTN
|
rotatin
|
|
SACS
|
sacsin molecular chaperone
|
|
SBF2
|
SET binding factor 2
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN2A
|
sodium channel, voltage gated, type II alpha subunit
|
|
SETBP1
|
SET binding protein 1
|
|
SETX
|
senataxin
|
|
SH2B1
|
SH2B adaptor protein 1
|
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
|
SHH
|
sonic hedgehog
|
|
SIM1
|
single-minded family bHLH transcription factor 1
|
|
SIX3
|
SIX homeobox 3
|
|
SKI
|
SKI proto-oncogene
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC25A15
|
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC2A3
|
solute carrier family 2 (facilitated glucose transporter), member 3
|
|
SLC35A2
|
solute carrier family 35 (UDP-galactose transporter), member A2
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
SNIP1
|
Smad nuclear interacting protein 1
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SPTAN1
|
spectrin, alpha, non-erythrocytic 1
|
|
SPTLC1
|
serine palmitoyltransferase, long chain base subunit 1
|
|
ST3GAL3
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
|
|
STXBP1
|
syntaxin binding protein 1
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
SYNGAP1
|
synaptic Ras GTPase activating protein 1
|
|
SZT2
|
seizure threshold 2 homolog (mouse)
|
|
TNXB
|
tenascin XB
|
|
TPI1
|
triosephosphate isomerase 1
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TREM2
|
triggering receptor expressed on myeloid cells 2
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TUBB2A
|
tubulin, beta 2A class IIa
|
|
TYROBP
|
TYRO protein tyrosine kinase binding protein
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UPB1
|
ureidopropionase, beta
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WNK1
|
WNK lysine deficient protein kinase 1
|
|
YWHAE
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
|
