| Symbol |
Name |
|
AARS2
|
alanyl-tRNA synthetase 2, mitochondrial
|
|
ABCB6
|
ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
|
|
ABHD12
|
abhydrolase domain containing 12
|
|
ACO2
|
aconitase 2, mitochondrial
|
|
ACTL6B
|
actin-like 6B
|
|
ACY1
|
aminoacylase 1
|
|
ADPRS
|
ADP-ribosylserine hydrolase
|
|
ADSL
|
adenylosuccinate lyase
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
AFP
|
alpha-fetoprotein
|
|
AGTPBP1
|
ATP/GTP binding protein 1
|
|
AIMP2
|
aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
|
|
ALB
|
albumin
|
|
ALG3
|
ALG3, alpha-1,3- mannosyltransferase
|
|
ALG9
|
ALG9, alpha-1,2-mannosyltransferase
|
|
ANO10
|
anoctamin 10
|
|
AP4B1
|
adaptor-related protein complex 4, beta 1 subunit
|
|
AP4E1
|
adaptor-related protein complex 4, epsilon 1 subunit
|
|
AP4M1
|
adaptor-related protein complex 4, mu 1 subunit
|
|
AP4S1
|
adaptor-related protein complex 4, sigma 1 subunit
|
|
APTX
|
aprataxin
|
|
ARX
|
aristaless related homeobox
|
|
ATAD3A
|
ATPase family, AAA domain containing 3A
|
|
ATAD3B
|
ATPase family, AAA domain containing 3B
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATP13A2
|
ATPase type 13A2
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATP2B3
|
ATPase, Ca++ transporting, plasma membrane 3
|
|
ATP6AP2
|
ATPase, H+ transporting, lysosomal accessory protein 2
|
|
ATP6V1A
|
ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A
|
|
ATP8A2
|
ATPase, aminophospholipid transporter, class I, type 8A, member 2
|
|
ATXN1
|
ataxin 1
|
|
ATXN10
|
ataxin 10
|
|
ATXN2
|
ataxin 2
|
|
ATXN3
|
ataxin 3
|
|
ATXN7
|
ataxin 7
|
|
ATXN8
|
ataxin 8
|
|
BCAP31
|
B-cell receptor-associated protein 31
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BEAN1
|
brain expressed, associated with NEDD4, 1
|
|
BIVM-ERCC5
|
BIVM-ERCC5 readthrough
|
|
BRAP
|
BRCA1 associated protein
|
|
BRAT1
|
BRCA1-associated ATM activator 1
|
|
C19ORF70
|
chromosome 19 open reading frame 70
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CA8
|
carbonic anhydrase VIII
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNA1G
|
calcium channel, voltage-dependent, T type, alpha 1G subunit
|
|
CACNA2D2
|
calcium channel, voltage-dependent, alpha 2/delta subunit 2
|
|
CASK
|
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
|
|
CCDC88A
|
coiled-coil domain containing 88A
|
|
CDC42
|
cell division cycle 42
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CHIT1
|
chitinase 1 (chitotriosidase)
|
|
CIZ1
|
CDKN1A interacting zinc finger protein 1
|
|
CKAP2L
|
cytoskeleton associated protein 2-like
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CLN8
|
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
|
|
CLPB
|
ClpB homolog, mitochondrial AAA ATPase chaperonin
|
|
CNTNAP1
|
contactin associated protein 1
|
|
COA7
|
cytochrome c oxidase assembly factor 7 (putative)
|
|
COG1
|
component of oligomeric golgi complex 1
|
|
COG5
|
component of oligomeric golgi complex 5
|
|
COG7
|
component of oligomeric golgi complex 7
|
|
COG8
|
component of oligomeric golgi complex 8
|
|
COL18A1
|
collagen, type XVIII, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
COQ8A
|
coenzyme Q8A
|
|
COQ9
|
coenzyme Q9
|
|
COX8A
|
cytochrome c oxidase subunit VIIIA (ubiquitous)
|
|
CRAT
|
carnitine O-acetyltransferase
|
|
CSF1R
|
colony stimulating factor 1 receptor
|
|
CTSD
|
cathepsin D
|
|
CTSF
|
cathepsin F
|
|
CWF19L1
|
CWF19-like 1, cell cycle control (S. pombe)
|
|
CYB5A
|
cytochrome b5 type A (microsomal)
|
|
CYB5R3
|
cytochrome b5 reductase 3
|
|
CYFIP2
|
cytoplasmic FMR1 interacting protein 2
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
CYP2C9
|
cytochrome P450, family 2, subfamily C, polypeptide 9
|
|
DAB1
|
Dab, reelin signal transducer, homolog 1 (Drosophila)
|
|
DARS2
|
aspartyl-tRNA synthetase 2, mitochondrial
|
|
DEGS1
|
delta(4)-desaturase, sphingolipid 1
|
|
DHX30
|
DEAH (Asp-Glu-Ala-His) box helicase 30
|
|
DNAJC19
|
DnaJ (Hsp40) homolog, subfamily C, member 19
|
|
DNAJC3
|
DnaJ (Hsp40) homolog, subfamily C, member 3
|
|
DNM1L
|
dynamin 1-like
|
|
DNMT1
|
DNA (cytosine-5-)-methyltransferase 1
|
|
EEF2
|
eukaryotic translation elongation factor 2
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
ELOVL5
|
ELOVL fatty acid elongase 5
|
|
EMC1
|
ER membrane protein complex subunit 1
|
|
ERCC3
|
excision repair cross-complementation group 3
|
|
ERCC5
|
excision repair cross-complementation group 5
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
EXOSC2
|
exosome component 2
|
|
EXOSC3
|
exosome component 3
|
|
EXOSC9
|
exosome component 9
|
|
FA2H
|
fatty acid 2-hydroxylase
|
|
FARS2
|
phenylalanyl-tRNA synthetase 2, mitochondrial
|
|
FAT2
|
FAT atypical cadherin 2
|
|
FGF12
|
fibroblast growth factor 12
|
|
FGF14
|
fibroblast growth factor 14
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FRRS1L
|
ferric-chelate reductase 1-like
|
|
FUK
|
fucokinase
|
|
FXN
|
frataxin
|
|
GAD1
|
glutamate decarboxylase 1 (brain, 67kDa)
|
|
GALC
|
galactosylceramidase
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GCN1
|
GCN1 activator of EIF2AK4
|
|
GDAP2
|
ganglioside induced differentiation associated protein 2
|
|
GNAO1
|
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
|
|
GPAA1
|
glycosylphosphatidylinositol anchor attachment 1
|
|
GRID2
|
glutamate receptor, ionotropic, delta 2
|
|
GRM1
|
glutamate receptor, metabotropic 1
|
|
GRN
|
granulin
|
|
GTPBP2
|
GTP binding protein 2
|
|
HARS1
|
histidyl-tRNA synthetase 1
|
|
HEPACAM
|
hepatic and glial cell adhesion molecule
|
|
HERC1
|
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HSPA4
|
heat shock 70kDa protein 4
|
|
HTT
|
huntingtin
|
|
IBA57
|
IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
|
|
IFRD1
|
interferon-related developmental regulator 1
|
|
IRF2BPL
|
interferon regulatory factor 2 binding protein-like
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
KCNA1
|
potassium channel, voltage gated shaker related subfamily A, member 1
|
|
KCNC3
|
potassium channel, voltage gated Shaw related subfamily C, member 3
|
|
KCND3
|
potassium channel, voltage gated Shal related subfamily D, member 3
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
KCNMA1
|
potassium channel, calcium activated large conductance subfamily M alpha, member 1
|
|
KCNN3
|
potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3
|
|
KCTD7
|
potassium channel tetramerization domain containing 7
|
|
KIF1A
|
kinesin family member 1A
|
|
KIF1C
|
kinesin family member 1C
|
|
L2HGDH
|
L-2-hydroxyglutarate dehydrogenase
|
|
LAGE3
|
L antigen family, member 3
|
|
LIPT1
|
lipoyltransferase 1
|
|
LNPK
|
lunapark, ER junction formation factor
|
|
LONP1
|
lon peptidase 1, mitochondrial
|
|
LY6E
|
lymphocyte antigen 6 complex, locus E
|
|
LYST
|
lysosomal trafficking regulator
|
|
MAG
|
myelin associated glycoprotein
|
|
MAGED2
|
melanoma antigen family D2
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
MAPT
|
microtubule-associated protein tau
|
|
MARS2
|
methionyl-tRNA synthetase 2, mitochondrial
|
|
MCOLN1
|
mucolipin 1
|
|
MDH2
|
malate dehydrogenase 2, NAD (mitochondrial)
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED17
|
mediator complex subunit 17
|
|
MFF
|
mitochondrial fission factor
|
|
MFSD8
|
major facilitator superfamily domain containing 8
|
|
MGME1
|
mitochondrial genome maintenance exonuclease 1
|
|
MME
|
membrane metallo-endopeptidase
|
|
MPDU1
|
mannose-P-dolichol utilization defect 1
|
|
MRE11
|
MRE11 homolog, double strand break repair nuclease
|
|
MSC
|
musculin
|
|
MSTO1
|
misato 1, mitochondrial distribution and morphology regulator
|
|
MTHFS
|
5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)
|
|
MVK
|
mevalonate kinase
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
NADK2
|
NAD kinase 2, mitochondrial
|
|
NARS2
|
asparaginyl-tRNA synthetase 2, mitochondrial (putative)
|
|
NBN
|
nibrin
|
|
NDUFA9
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
|
|
NDUFS1
|
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
|
|
NDUFS4
|
NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
|
|
NEUROD2
|
neuronal differentiation 2
|
|
NGLY1
|
N-glycanase 1
|
|
NKX6-2
|
NK6 homeobox 2
|
|
NLRP2
|
NLR family, pyrin domain containing 2
|
|
NOP56
|
NOP56 ribonucleoprotein
|
|
NUBPL
|
nucleotide binding protein-like
|
|
NUP214
|
nucleoporin 214kDa
|
|
NUP93
|
nucleoporin 93kDa
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
OPA3
|
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
|
|
OSGEP
|
O-sialoglycoprotein endopeptidase
|
|
OVOL2
|
ovo-like zinc finger 2
|
|
PACS1
|
phosphofurin acidic cluster sorting protein 1
|
|
PAEP
|
progestagen-associated endometrial protein
|
|
PCLO
|
piccolo presynaptic cytomatrix protein
|
|
PCNA
|
proliferating cell nuclear antigen
|
|
PCYT2
|
phosphate cytidylyltransferase 2, ethanolamine
|
|
PDYN
|
prodynorphin
|
|
PEX10
|
peroxisomal biogenesis factor 10
|
|
PEX2
|
peroxisomal biogenesis factor 2
|
|
PIGN
|
phosphatidylinositol glycan anchor biosynthesis, class N
|
|
PIGP
|
phosphatidylinositol glycan anchor biosynthesis, class P
|
|
PIGQ
|
phosphatidylinositol glycan anchor biosynthesis, class Q
|
|
PIGS
|
phosphatidylinositol glycan anchor biosynthesis, class S
|
|
PIGT
|
phosphatidylinositol glycan anchor biosynthesis, class T
|
|
PIK3R5
|
phosphoinositide-3-kinase, regulatory subunit 5
|
|
PKN1
|
protein kinase N1
|
|
PLA2G1B
|
phospholipase A2, group IB (pancreas)
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLB1
|
phospholipase B1
|
|
PLD3
|
phospholipase D family, member 3
|
|
PLK4
|
polo-like kinase 4
|
|
PMM2
|
phosphomannomutase 2
|
|
PMPCB
|
peptidase (mitochondrial processing) beta
|
|
PNKP
|
polynucleotide kinase 3'-phosphatase
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
PNPLA8
|
patatin-like phospholipase domain containing 8
|
|
POGZ
|
pogo transposable element with ZNF domain
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLG2
|
polymerase (DNA directed), gamma 2, accessory subunit
|
|
POLR3A
|
polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
|
|
POLR3B
|
polymerase (RNA) III (DNA directed) polypeptide B
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
PPP2R2B
|
protein phosphatase 2, regulatory subunit B, beta
|
|
PRKCG
|
protein kinase C, gamma
|
|
PRNP
|
prion protein
|
|
PRUNE1
|
prune exopolyphosphatase 1
|
|
PSEN1
|
presenilin 1
|
|
PTRH2
|
peptidyl-tRNA hydrolase 2
|
|
RARS2
|
arginyl-tRNA synthetase 2, mitochondrial
|
|
REEP1
|
receptor accessory protein 1
|
|
REPS1
|
RALBP1 associated Eps domain containing 1
|
|
RFC1
|
replication factor C (activator 1) 1, 145kDa
|
|
RFT1
|
RFT1 homolog (S. cerevisiae)
|
|
RNASEH1
|
ribonuclease H1
|
|
RNASEH2A
|
ribonuclease H2, subunit A
|
|
RNF216
|
ring finger protein 216
|
|
RORA
|
RAR-related orphan receptor A
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
RTTN
|
rotatin
|
|
SACS
|
sacsin molecular chaperone
|
|
SAMD9L
|
sterile alpha motif domain containing 9-like
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SCN2A
|
sodium channel, voltage gated, type II alpha subunit
|
|
SCN8A
|
sodium channel, voltage gated, type VIII alpha subunit
|
|
SCYL1
|
SCY1-like 1 (S. cerevisiae)
|
|
SEPSECS
|
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
|
|
SERAC1
|
serine active site containing 1
|
|
SETX
|
senataxin
|
|
SIK1
|
salt-inducible kinase 1
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SLC1A3
|
solute carrier family 1 (glial high affinity glutamate transporter), member 3
|
|
SLC25A22
|
solute carrier family 25 (mitochondrial carrier: glutamate), member 22
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
SLC33A1
|
solute carrier family 33 (acetyl-CoA transporter), member 1
|
|
SLC35A2
|
solute carrier family 35 (UDP-galactose transporter), member A2
|
|
SLC39A14
|
solute carrier family 39 (zinc transporter), member 14
|
|
SLC39A8
|
solute carrier family 39 (zinc transporter), member 8
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SNX14
|
sorting nexin 14
|
|
SPART
|
spartin
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SPTAN1
|
spectrin, alpha, non-erythrocytic 1
|
|
SPTBN2
|
spectrin, beta, non-erythrocytic 2
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
STT3A
|
STT3A, subunit of the oligosaccharyltransferase complex (catalytic)
|
|
STT3B
|
STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
|
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
|
STXBP1
|
syntaxin binding protein 1
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
SYNE1
|
spectrin repeat containing, nuclear envelope 1
|
|
SYT14
|
synaptotagmin XIV
|
|
TAF1
|
TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
|
|
TANGO2
|
transport and golgi organization 2 homolog (Drosophila)
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TBCD
|
tubulin folding cofactor D
|
|
TBCE
|
tubulin folding cofactor E
|
|
TBK1
|
TANK-binding kinase 1
|
|
TBP
|
TATA box binding protein
|
|
TDP1
|
tyrosyl-DNA phosphodiesterase 1
|
|
TECPR2
|
tectonin beta-propeller repeat containing 2
|
|
TGM6
|
transglutaminase 6
|
|
THG1L
|
tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TMEM240
|
transmembrane protein 240
|
|
TMEM47
|
transmembrane protein 47
|
|
TMEM92
|
transmembrane protein 92
|
|
TOP3A
|
topoisomerase (DNA) III alpha
|
|
TPO
|
thyroid peroxidase
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TRAPPC6B
|
trafficking protein particle complex 6B
|
|
TRIM8
|
tripartite motif containing 8
|
|
TRPC3
|
transient receptor potential cation channel, subfamily C, member 3
|
|
TSEN2
|
TSEN2 tRNA splicing endonuclease subunit
|
|
TTBK2
|
tau tubulin kinase 2
|
|
TTC19
|
tetratricopeptide repeat domain 19
|
|
TUBB2B
|
tubulin, beta 2B class IIb
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
TWNK
|
twinkle mtDNA helicase
|
|
TXN2
|
thioredoxin 2
|
|
UBA5
|
ubiquitin-like modifier activating enzyme 5
|
|
UBTF
|
upstream binding transcription factor, RNA polymerase I
|
|
UCHL1
|
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
|
|
UFM1
|
ubiquitin-fold modifier 1
|
|
VARS
|
valyl-tRNA synthetase
|
|
VLDLR
|
very low density lipoprotein receptor
|
|
VPS11
|
vacuolar protein sorting 11 homolog (S. cerevisiae)
|
|
VPS51
|
vacuolar protein sorting 51 homolog (S. cerevisiae)
|
|
VPS53
|
vacuolar protein sorting 53 homolog (S. cerevisiae)
|
|
VWA3B
|
von Willebrand factor A domain containing 3B
|
|
WARS2
|
tryptophanyl tRNA synthetase 2, mitochondrial
|
|
WDR45
|
WD repeat domain 45
|
|
WDR73
|
WD repeat domain 73
|
|
WDR81
|
WD repeat domain 81
|
|
WT1
|
Wilms tumor 1
|
|
WWOX
|
WW domain containing oxidoreductase
|
|
XRCC1
|
X-ray repair complementing defective repair in Chinese hamster cells 1
|
|
YARS2
|
tyrosyl-tRNA synthetase 2, mitochondrial
|
|
YWHAZ
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta
|
|
ZIC1
|
Zic family member 1
|
|
ZNF335
|
zinc finger protein 335
|
|
ZNHIT3
|
zinc finger, HIT-type containing 3
|
