| Symbol |
Name |
|
AARS
|
alanyl-tRNA synthetase
|
|
ABCA1
|
ATP-binding cassette, sub-family A (ABC1), member 1
|
|
ABCD3
|
ATP-binding cassette, sub-family D (ALD), member 3
|
|
ABHD12
|
abhydrolase domain containing 12
|
|
ACO2
|
aconitase 2, mitochondrial
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ADCY6
|
adenylate cyclase 6
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
ALDH5A1
|
aldehyde dehydrogenase 5 family, member A1
|
|
ALG1
|
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
|
|
ALG6
|
ALG6, alpha-1,3-glucosyltransferase
|
|
APOB
|
apolipoprotein B
|
|
APTX
|
aprataxin
|
|
AR
|
androgen receptor
|
|
ARSA
|
arylsulfatase A
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ATL3
|
atlastin GTPase 3
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATXN1
|
ataxin 1
|
|
ATXN2
|
ataxin 2
|
|
ATXN3
|
ataxin 3
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GNT1
|
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BICD2
|
bicaudal D homolog 2 (Drosophila)
|
|
BIN1
|
bridging integrator 1
|
|
BSND
|
barttin CLCNK-type chloride channel accessory beta subunit
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
CD59
|
CD59 molecule, complement regulatory protein
|
|
CFL2
|
cofilin 2 (muscle)
|
|
CHCHD10
|
coiled-coil-helix-coiled-coil-helix domain containing 10
|
|
CHMP2B
|
charged multivesicular body protein 2B
|
|
CLCNKA
|
chloride channel, voltage-sensitive Ka
|
|
CLCNKB
|
chloride channel, voltage-sensitive Kb
|
|
CNTN1
|
contactin 1
|
|
CNTNAP1
|
contactin associated protein 1
|
|
CNTNAP2
|
contactin associated protein-like 2
|
|
COASY
|
CoA synthase
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CPT1A
|
carnitine palmitoyltransferase 1A (liver)
|
|
CRYAB
|
crystallin, alpha B
|
|
DARS2
|
aspartyl-tRNA synthetase 2, mitochondrial
|
|
DCAF8
|
DDB1 and CUL4 associated factor 8
|
|
DES
|
desmin
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DMD
|
dystrophin
|
|
DNAJB2
|
DnaJ (Hsp40) homolog, subfamily B, member 2
|
|
DNASE1L3
|
deoxyribonuclease I-like 3
|
|
DNM1L
|
dynamin 1-like
|
|
DNM2
|
dynamin 2
|
|
DNMT1
|
DNA (cytosine-5-)-methyltransferase 1
|
|
DST
|
dystonin
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
DYSF
|
dysferlin
|
|
EGR2
|
early growth response 2
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC5
|
excision repair cross-complementation group 5
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
FAM134B
|
family with sequence similarity 134, member B
|
|
FGD4
|
FYVE, RhoGEF and PH domain containing 4
|
|
FHL1
|
four and a half LIM domains 1
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FKBP10
|
FK506 binding protein 10, 65 kDa
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FLNC
|
filamin C, gamma
|
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FUS
|
FUS RNA binding protein
|
|
FUZ
|
fuzzy planar cell polarity protein
|
|
FXN
|
frataxin
|
|
GAA
|
glucosidase, alpha; acid
|
|
GAN
|
gigaxonin
|
|
GARS
|
glycyl-tRNA synthetase
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GNB4
|
guanine nucleotide binding protein (G protein), beta polypeptide 4
|
|
GOSR2
|
golgi SNAP receptor complex member 2
|
|
GRIA3
|
glutamate receptor, ionotropic, AMPA 3
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
HACD1
|
3-hydroxyacyl-CoA dehydratase 1
|
|
HDAC4
|
histone deacetylase 4
|
|
HK1
|
hexokinase 1
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
HSPB3
|
heat shock 27kDa protein 3
|
|
HSPB8
|
heat shock 22kDa protein 8
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IGF2
|
insulin-like growth factor 2
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
IKBKAP
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
|
INF2
|
inverted formin, FH2 and WH2 domain containing
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
ITGA7
|
integrin, alpha 7
|
|
JAG1
|
jagged 1
|
|
KARS
|
lysyl-tRNA synthetase
|
|
KCND3
|
potassium channel, voltage gated Shal related subfamily D, member 3
|
|
KCNQ1OT1
|
KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
|
|
KIAA0226
|
KIAA0226
|
|
KIF1A
|
kinesin family member 1A
|
|
KIF1B
|
kinesin family member 1B
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LAMA2
|
laminin, alpha 2
|
|
LAMB2
|
laminin, beta 2 (laminin S)
|
|
LARGE
|
like-glycosyltransferase
|
|
LDB3
|
LIM domain binding 3
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LITAF
|
lipopolysaccharide-induced TNF factor
|
|
LMNA
|
lamin A/C
|
|
LPIN1
|
lipin 1
|
|
LRSAM1
|
leucine rich repeat and sterile alpha motif containing 1
|
|
LYST
|
lysosomal trafficking regulator
|
|
MAMLD1
|
mastermind-like domain containing 1
|
|
MED25
|
mediator complex subunit 25
|
|
MEGF10
|
multiple EGF-like-domains 10
|
|
MFN2
|
mitofusin 2
|
|
MGME1
|
mitochondrial genome maintenance exonuclease 1
|
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
|
MPZ
|
myelin protein zero
|
|
MRE11A
|
MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
|
|
MT-ATP8
|
ATP synthase F0 subunit 8
|
|
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
|
|
MTM1
|
myotubularin 1
|
|
MTPAP
|
mitochondrial poly(A) polymerase
|
|
MTTP
|
microsomal triglyceride transfer protein
|
|
MYH14
|
myosin, heavy chain 14, non-muscle
|
|
MYL2
|
myosin, light chain 2, regulatory, cardiac, slow
|
|
MYOT
|
myotilin
|
|
ND1
|
|
|
NDRG1
|
N-myc downstream regulated 1
|
|
NDUFA1
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
|
|
NDUFA11
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
|
|
NDUFAF1
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
|
|
NDUFAF2
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
|
|
NDUFAF3
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
|
|
NDUFAF4
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
|
|
NDUFAF5
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
|
|
NDUFB3
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
|
|
NDUFB9
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
|
|
NDUFS1
|
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
|
|
NDUFS2
|
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
|
|
NDUFS3
|
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
|
|
NDUFS4
|
NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
|
|
NDUFS6
|
NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
|
|
NDUFV1
|
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
|
|
NDUFV2
|
NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
|
|
NEB
|
nebulin
|
|
NEFL
|
neurofilament, light polypeptide
|
|
NUBPL
|
nucleotide binding protein-like
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
ORAI1
|
ORAI calcium release-activated calcium modulator 1
|
|
PDSS1
|
prenyl (decaprenyl) diphosphate synthase, subunit 1
|
|
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
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PIGN
|
phosphatidylinositol glycan anchor biosynthesis, class N
|
|
PIK3R5
|
phosphoinositide-3-kinase, regulatory subunit 5
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLEKHG5
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
|
PLP1
|
proteolipid protein 1
|
|
PMM2
|
phosphomannomutase 2
|
|
PMP22
|
peripheral myelin protein 22
|
|
PNKP
|
polynucleotide kinase 3'-phosphatase
|
|
PNPLA2
|
patatin-like phospholipase domain containing 2
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
PNPT1
|
polyribonucleotide nucleotidyltransferase 1
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMGNT2
|
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
|
|
POMK
|
protein-O-mannose kinase
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PRICKLE2
|
prickle homolog 2 (Drosophila)
|
|
PRNP
|
prion protein
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRX
|
periaxin
|
|
PSAP
|
prosaposin
|
|
RAB7A
|
RAB7A, member RAS oncogene family
|
|
RAI1
|
retinoic acid induced 1
|
|
REEP1
|
receptor accessory protein 1
|
|
RMND1
|
required for meiotic nuclear division 1 homolog (S. cerevisiae)
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RNF170
|
ring finger protein 170
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SACS
|
sacsin molecular chaperone
|
|
SAR1B
|
secretion associated, Ras related GTPase 1B
|
|
SBF1
|
SET binding factor 1
|
|
SBF2
|
SET binding factor 2
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SEPN1
|
selenoprotein N, 1
|
|
SEPT9
|
septin 9
|
|
SETX
|
senataxin
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC25A19
|
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SLC5A7
|
solute carrier family 5 (sodium/choline cotransporter), member 7
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
SNIP1
|
Smad nuclear interacting protein 1
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SPEG
|
SPEG complex locus
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPTLC1
|
serine palmitoyltransferase, long chain base subunit 1
|
|
ST3GAL5
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
|
|
STAC3
|
SH3 and cysteine rich domain 3
|
|
STIM1
|
stromal interaction molecule 1
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
SZT2
|
seizure threshold 2 homolog (mouse)
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TCAP
|
titin-cap
|
|
TECPR2
|
tectonin beta-propeller repeat containing 2
|
|
TERT
|
telomerase reverse transcriptase
|
|
TGFB3
|
transforming growth factor, beta 3
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TMEM5
|
transmembrane protein 5
|
|
TPI1
|
triosephosphate isomerase 1
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TPM3
|
tropomyosin 3
|
|
TRIM2
|
tripartite motif containing 2
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRIM37
|
tripartite motif containing 37
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TSPYL1
|
TSPY-like 1
|
|
TTPA
|
tocopherol (alpha) transfer protein
|
|
TTR
|
transthyretin
|
|
TUBA8
|
tubulin, alpha 8
|
|
TYMP
|
thymidine phosphorylase
|
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
|
VANGL1
|
VANGL planar cell polarity protein 1
|
|
VAPB
|
VAMP (vesicle-associated membrane protein)-associated protein B and C
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
WDR81
|
WD repeat domain 81
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WNK1
|
WNK lysine deficient protein kinase 1
|
|
WWOX
|
WW domain containing oxidoreductase
|
|
XPA
|
xeroderma pigmentosum, complementation group A
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
