Symbol |
Name |
AARS
|
alanyl-tRNA synthetase
|
ABCA1
|
ATP-binding cassette, sub-family A (ABC1), member 1
|
ABHD12
|
abhydrolase domain containing 12
|
ACADSB
|
acyl-CoA dehydrogenase, short/branched chain
|
ADK
|
adenosine kinase
|
ADSL
|
adenylosuccinate lyase
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
AGA
|
aspartylglucosaminidase
|
AGL
|
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
ANG
|
angiogenin, ribonuclease, RNase A family, 5
|
ANO5
|
anoctamin 5
|
ANTXR2
|
anthrax toxin receptor 2
|
APTX
|
aprataxin
|
AR
|
androgen receptor
|
ARSB
|
arylsulfatase B
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
ATL1
|
atlastin GTPase 1
|
ATM
|
ATM serine/threonine kinase
|
ATP6V0A2
|
ATPase, H+ transporting, lysosomal V0 subunit a2
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
ATP8A2
|
ATPase, aminophospholipid transporter, class I, type 8A, member 2
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
ATXN1
|
ataxin 1
|
ATXN2
|
ataxin 2
|
ATXN3
|
ataxin 3
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
B3GNT1
|
|
B4GALNT1
|
beta-1,4-N-acetyl-galactosaminyl transferase 1
|
BAG3
|
BCL2-associated athanogene 3
|
BIN1
|
bridging integrator 1
|
BMP1
|
bone morphogenetic protein 1
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
BUB1
|
BUB1 mitotic checkpoint serine/threonine kinase
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
BUB3
|
BUB3 mitotic checkpoint protein
|
C12ORF65
|
chromosome 12 open reading frame 65
|
C19ORF12
|
chromosome 19 open reading frame 12
|
C5ORF42
|
chromosome 5 open reading frame 42
|
C9ORF72
|
chromosome 9 open reading frame 72
|
CA8
|
carbonic anhydrase VIII
|
CAPN3
|
calpain 3, (p94)
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
CAV3
|
caveolin 3
|
CCT5
|
chaperonin containing TCP1, subunit 5 (epsilon)
|
CD59
|
CD59 molecule, complement regulatory protein
|
CDKL5
|
cyclin-dependent kinase-like 5
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
CEP126
|
centrosomal protein 126kDa
|
CEP57
|
centrosomal protein 57kDa
|
CHMP2B
|
charged multivesicular body protein 2B
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
COASY
|
CoA synthase
|
COL2A1
|
collagen, type II, alpha 1
|
COL4A1
|
collagen, type IV, alpha 1
|
COL6A1
|
collagen, type VI, alpha 1
|
COL6A2
|
collagen, type VI, alpha 2
|
COL6A3
|
collagen, type VI, alpha 3
|
COLEC11
|
collectin sub-family member 11
|
COX1
|
|
COX2
|
|
COX3
|
|
CPT1A
|
carnitine palmitoyltransferase 1A (liver)
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
CUL4B
|
cullin 4B
|
DARS2
|
aspartyl-tRNA synthetase 2, mitochondrial
|
DCAF8
|
DDB1 and CUL4 associated factor 8
|
DCTN1
|
dynactin 1
|
DES
|
desmin
|
DMPK
|
dystrophia myotonica-protein kinase
|
DNA2
|
DNA replication helicase/nuclease 2
|
DNAJB2
|
DnaJ (Hsp40) homolog, subfamily B, member 2
|
DNM2
|
dynamin 2
|
DNMT3B
|
DNA (cytosine-5-)-methyltransferase 3 beta
|
DOK7
|
docking protein 7
|
DUX4
|
double homeobox 4
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
DYSF
|
dysferlin
|
EGR2
|
early growth response 2
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
ERBB3
|
erb-b2 receptor tyrosine kinase 3
|
ERLIN2
|
ER lipid raft associated 2
|
EXOSC3
|
exosome component 3
|
FAM111B
|
family with sequence similarity 111, member B
|
FAM126A
|
family with sequence similarity 126, member A
|
FAM134B
|
family with sequence similarity 134, member B
|
FBN1
|
fibrillin 1
|
FBN2
|
fibrillin 2
|
FBXL4
|
F-box and leucine-rich repeat protein 4
|
FGD4
|
FYVE, RhoGEF and PH domain containing 4
|
FHL1
|
four and a half LIM domains 1
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
FKBP14
|
FK506 binding protein 14, 22 kDa
|
FKRP
|
fukutin related protein
|
FKTN
|
fukutin
|
FLNA
|
filamin A, alpha
|
FLNC
|
filamin C, gamma
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
FOS
|
FBJ murine osteosarcoma viral oncogene homolog
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
FRG1
|
FSHD region gene 1
|
FTO
|
fat mass and obesity associated
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
FUS
|
FUS RNA binding protein
|
FUZ
|
fuzzy planar cell polarity protein
|
GAA
|
glucosidase, alpha; acid
|
GAN
|
gigaxonin
|
GARS
|
glycyl-tRNA synthetase
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
GFPT1
|
glutamine--fructose-6-phosphate transaminase 1
|
GHR
|
growth hormone receptor
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
GLB1
|
galactosidase, beta 1
|
GLE1
|
GLE1 RNA export mediator
|
GNAS
|
GNAS complex locus
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
GPC3
|
glypican 3
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
HEXB
|
hexosaminidase B (beta polypeptide)
|
HMGA2
|
high mobility group AT-hook 2
|
HNRNPDL
|
heterogeneous nuclear ribonucleoprotein D-like
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
HSPB1
|
heat shock 27kDa protein 1
|
HSPB3
|
heat shock 27kDa protein 3
|
HSPB8
|
heat shock 22kDa protein 8
|
HSPG2
|
heparan sulfate proteoglycan 2
|
IDS
|
iduronate 2-sulfatase
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
INF2
|
inverted formin, FH2 and WH2 domain containing
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
INSR
|
insulin receptor
|
ISPD
|
isoprenoid synthase domain containing
|
ITGA7
|
integrin, alpha 7
|
KCNQ1OT1
|
KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
KIF1A
|
kinesin family member 1A
|
KIF1B
|
kinesin family member 1B
|
KIF1C
|
kinesin family member 1C
|
LAMP2
|
lysosomal-associated membrane protein 2
|
LARGE
|
like-glycosyltransferase
|
LEMD3
|
LEM domain containing 3
|
LITAF
|
lipopolysaccharide-induced TNF factor
|
LMNA
|
lamin A/C
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
LRSAM1
|
leucine rich repeat and sterile alpha motif containing 1
|
MAFB
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
|
MAMLD1
|
mastermind-like domain containing 1
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
MCCC2
|
methylcrotonoyl-CoA carboxylase 2 (beta)
|
MECP2
|
methyl CpG binding protein 2
|
MED25
|
mediator complex subunit 25
|
MFN2
|
mitofusin 2
|
MGME1
|
mitochondrial genome maintenance exonuclease 1
|
MPZ
|
myelin protein zero
|
MRE11A
|
MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
|
MSTN
|
myostatin
|
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
|
MTAP
|
methylthioadenosine phosphorylase
|
MTM1
|
myotubularin 1
|
MTMR2
|
myotubularin related protein 2
|
MYH14
|
myosin, heavy chain 14, non-muscle
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
MYOT
|
myotilin
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
NALCN
|
sodium leak channel, non selective
|
NBN
|
nibrin
|
ND1
|
|
NDE1
|
nudE neurodevelopment protein 1
|
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
|
NEFL
|
neurofilament, light polypeptide
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
NLRP3
|
NLR family, pyrin domain containing 3
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
NUBPL
|
nucleotide binding protein-like
|
OGDH
|
oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
|
PABPN1
|
poly(A) binding protein, nuclear 1
|
PAX8
|
paired box 8
|
PDE11A
|
phosphodiesterase 11A
|
PDE8B
|
phosphodiesterase 8B
|
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
|
PEX7
|
peroxisomal biogenesis factor 7
|
PFKM
|
phosphofructokinase, muscle
|
PFN1
|
profilin 1
|
PHF6
|
PHD finger protein 6
|
PHGDH
|
phosphoglycerate dehydrogenase
|
PHKA1
|
phosphorylase kinase, alpha 1 (muscle)
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
PIK3R2
|
phosphoinositide-3-kinase, regulatory subunit 2 (beta)
|
PIP5K1C
|
phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
|
PLEC
|
plectin
|
PLEKHG5
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
PLIN1
|
perilipin 1
|
PLOD3
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
|
PLP1
|
proteolipid protein 1
|
PMP22
|
peripheral myelin protein 22
|
PNKP
|
polynucleotide kinase 3'-phosphatase
|
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
|
POU1F1
|
POU class 1 homeobox 1
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
PRX
|
periaxin
|
PSAT1
|
phosphoserine aminotransferase 1
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
PTEN
|
phosphatase and tensin homolog
|
PTRF
|
polymerase I and transcript release factor
|
PUS1
|
pseudouridylate synthase 1
|
RAB7A
|
RAB7A, member RAS oncogene family
|
RAPSN
|
receptor-associated protein of the synapse
|
RASA1
|
RAS p21 protein activator (GTPase activating protein) 1
|
RBM28
|
RNA binding motif protein 28
|
RBM8A
|
RNA binding motif protein 8A
|
REEP1
|
receptor accessory protein 1
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
SACS
|
sacsin molecular chaperone
|
SALL4
|
spalt-like transcription factor 4
|
SBF2
|
SET binding factor 2
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
SEPN1
|
selenoprotein N, 1
|
SEPT9
|
septin 9
|
SETBP1
|
SET binding protein 1
|
SETX
|
senataxin
|
SFXN4
|
sideroflexin 4
|
SGCA
|
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
|
SGCB
|
sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
|
SGCD
|
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
|
SGCG
|
sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
SHOX
|
short stature homeobox
|
SIGMAR1
|
sigma non-opioid intracellular receptor 1
|
SIL1
|
SIL1 nucleotide exchange factor
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
SLC25A19
|
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
SLC33A1
|
solute carrier family 33 (acetyl-CoA transporter), member 1
|
SLC39A13
|
solute carrier family 39 (zinc transporter), member 13
|
SLC46A1
|
solute carrier family 46 (folate transporter), member 1
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
SLC5A5
|
solute carrier family 5 (sodium/iodide cotransporter), member 5
|
SLC5A7
|
solute carrier family 5 (sodium/choline cotransporter), member 7
|
SLC7A7
|
solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
SMAD4
|
SMAD family member 4
|
SMCHD1
|
structural maintenance of chromosomes flexible hinge domain containing 1
|
SMN1
|
survival of motor neuron 1, telomeric
|
SNIP1
|
Smad nuclear interacting protein 1
|
SNX10
|
sorting nexin 10
|
SOD1
|
superoxide dismutase 1, soluble
|
SOX10
|
SRY (sex determining region Y)-box 10
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
SPG20
|
spastic paraplegia 20 (Troyer syndrome)
|
SPTLC1
|
serine palmitoyltransferase, long chain base subunit 1
|
STAC3
|
SH3 and cysteine rich domain 3
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
SUCLG1
|
succinate-CoA ligase, alpha subunit
|
SYNE1
|
spectrin repeat containing, nuclear envelope 1
|
SYNE2
|
spectrin repeat containing, nuclear envelope 2
|
TARDBP
|
TAR DNA binding protein
|
TBX3
|
T-box 3
|
TBX5
|
T-box 5
|
TCAP
|
titin-cap
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
TDP1
|
tyrosyl-DNA phosphodiesterase 1
|
TFG
|
TRK-fused gene
|
TGFB1
|
transforming growth factor, beta 1
|
THRA
|
thyroid hormone receptor, alpha
|
TIA1
|
TIA1 cytotoxic granule-associated RNA binding protein
|
TIMM8A
|
translocase of inner mitochondrial membrane 8 homolog A (yeast)
|
TK2
|
thymidine kinase 2, mitochondrial
|
TMEM43
|
transmembrane protein 43
|
TMEM5
|
transmembrane protein 5
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
TNNT1
|
troponin T type 1 (skeletal, slow)
|
TNXB
|
tenascin XB
|
TPI1
|
triosephosphate isomerase 1
|
TPM2
|
tropomyosin 2 (beta)
|
TPM3
|
tropomyosin 3
|
TRAF3IP2
|
TRAF3 interacting protein 2
|
TRIM32
|
tripartite motif containing 32
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
TSHB
|
thyroid stimulating hormone, beta
|
TTC19
|
tetratricopeptide repeat domain 19
|
TTN
|
titin
|
TTPA
|
tocopherol (alpha) transfer protein
|
TYMP
|
thymidine phosphorylase
|
UBE3A
|
ubiquitin protein ligase E3A
|
VANGL1
|
VANGL planar cell polarity protein 1
|
VAPB
|
VAMP (vesicle-associated membrane protein)-associated protein B and C
|
VCP
|
valosin containing protein
|
VIPAS39
|
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
|
VLDLR
|
very low density lipoprotein receptor
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
VPS33B
|
vacuolar protein sorting 33 homolog B (yeast)
|
VRK1
|
vaccinia related kinase 1
|
WDR81
|
WD repeat domain 81
|
WNK1
|
WNK lysine deficient protein kinase 1
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
WRN
|
Werner syndrome, RecQ helicase-like
|
YARS
|
tyrosyl-tRNA synthetase
|
YARS2
|
tyrosyl-tRNA synthetase 2, mitochondrial
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|