| Symbol |
Name |
|
A2ML1
|
alpha-2-macroglobulin-like 1
|
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
AARS
|
alanyl-tRNA synthetase
|
|
AARS2
|
alanyl-tRNA synthetase 2, mitochondrial
|
|
ABCA1
|
ATP-binding cassette, sub-family A (ABC1), member 1
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ABHD5
|
abhydrolase domain containing 5
|
|
ACAD9
|
acyl-CoA dehydrogenase family, member 9
|
|
ACADS
|
acyl-CoA dehydrogenase, C-2 to C-3 short chain
|
|
ACADVL
|
acyl-CoA dehydrogenase, very long chain
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ACY1
|
aminoacylase 1
|
|
ADCK3
|
aarF domain containing kinase 3
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
AGK
|
acylglycerol kinase
|
|
AGL
|
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
|
|
AGRN
|
agrin
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
ALAD
|
aminolevulinate dehydratase
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
AMPD1
|
adenosine monophosphate deaminase 1
|
|
ANG
|
angiogenin, ribonuclease, RNase A family, 5
|
|
ANKH
|
ANKH inorganic pyrophosphate transport regulator
|
|
ANO5
|
anoctamin 5
|
|
ANOS1
|
anosmin 1
|
|
AP5Z1
|
adaptor-related protein complex 5, zeta 1 subunit
|
|
APTX
|
aprataxin
|
|
AR
|
androgen receptor
|
|
ARMC5
|
armadillo repeat containing 5
|
|
ARSA
|
arylsulfatase A
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ATL1
|
atlastin GTPase 1
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATXN1
|
ataxin 1
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GNT1
|
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BICD2
|
bicaudal D homolog 2 (Drosophila)
|
|
BIN1
|
bridging integrator 1
|
|
BMS1
|
BMS1 ribosome biogenesis factor
|
|
BOLA3
|
bolA family member 3
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
BTD
|
biotinidase
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
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
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNA1S
|
calcium channel, voltage-dependent, L type, alpha 1S subunit
|
|
CAPN3
|
calpain 3, (p94)
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CAV3
|
caveolin 3
|
|
CCR6
|
chemokine (C-C motif) receptor 6
|
|
CD59
|
CD59 molecule, complement regulatory protein
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CEP126
|
centrosomal protein 126kDa
|
|
CFL2
|
cofilin 2 (muscle)
|
|
CHAT
|
choline O-acetyltransferase
|
|
CHCHD10
|
coiled-coil-helix-coiled-coil-helix domain containing 10
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHKB
|
choline kinase beta
|
|
CHMP2B
|
charged multivesicular body protein 2B
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRNB1
|
cholinergic receptor, nicotinic, beta 1 (muscle)
|
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
|
CHRNE
|
cholinergic receptor, nicotinic, epsilon (muscle)
|
|
CLCF1
|
cardiotrophin-like cytokine factor 1
|
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CLCNKB
|
chloride channel, voltage-sensitive Kb
|
|
CNBP
|
CCHC-type zinc finger, nucleic acid binding protein
|
|
CNTN1
|
contactin 1
|
|
COA5
|
cytochrome c oxidase assembly factor 5
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
COL9A3
|
collagen, type IX, alpha 3
|
|
COLQ
|
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
COX1
|
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX14
|
COX14 cytochrome c oxidase assembly factor
|
|
COX2
|
|
|
COX20
|
COX20 cytochrome c oxidase assembly factor
|
|
COX3
|
|
|
COX6B1
|
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
|
|
CPOX
|
coproporphyrinogen oxidase
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CRLF1
|
cytokine receptor-like factor 1
|
|
CRYAB
|
crystallin, alpha B
|
|
CTGF
|
connective tissue growth factor
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CTSH
|
cathepsin H
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
CYP27B1
|
cytochrome P450, family 27, subfamily B, polypeptide 1
|
|
CYP2R1
|
cytochrome P450, family 2, subfamily R, polypeptide 1
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
D2HGDH
|
D-2-hydroxyglutarate dehydrogenase
|
|
DAG1
|
dystroglycan 1 (dystrophin-associated glycoprotein 1)
|
|
DARS2
|
aspartyl-tRNA synthetase 2, mitochondrial
|
|
DCAF8
|
DDB1 and CUL4 associated factor 8
|
|
DCTN1
|
dynactin 1
|
|
DDHD1
|
DDHD domain containing 1
|
|
DDHD2
|
DDHD domain containing 2
|
|
DES
|
desmin
|
|
DHFR
|
dihydrofolate reductase
|
|
DMD
|
dystrophin
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DNA2
|
DNA replication helicase/nuclease 2
|
|
DNAJB2
|
DnaJ (Hsp40) homolog, subfamily B, member 2
|
|
DNAJB6
|
DnaJ (Hsp40) homolog, subfamily B, member 6
|
|
DNAJC19
|
DnaJ (Hsp40) homolog, subfamily C, member 19
|
|
DNM2
|
dynamin 2
|
|
DOK7
|
docking protein 7
|
|
DPAGT1
|
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
|
|
DPM2
|
dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
|
|
DPM3
|
dolichyl-phosphate mannosyltransferase polypeptide 3
|
|
DSE
|
dermatan sulfate epimerase
|
|
DUSP6
|
dual specificity phosphatase 6
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
DYSF
|
dysferlin
|
|
EGR2
|
early growth response 2
|
|
ERBB4
|
erb-b2 receptor tyrosine kinase 4
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
ERLIN2
|
ER lipid raft associated 2
|
|
ETFA
|
electron-transfer-flavoprotein, alpha polypeptide
|
|
ETFB
|
electron-transfer-flavoprotein, beta polypeptide
|
|
ETFDH
|
electron-transferring-flavoprotein dehydrogenase
|
|
EXOSC3
|
exosome component 3
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EXT2
|
exostosin glycosyltransferase 2
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
FAM126A
|
family with sequence similarity 126, member A
|
|
FASTKD2
|
FAST kinase domains 2
|
|
FBN1
|
fibrillin 1
|
|
FBXO38
|
F-box protein 38
|
|
FEZF1
|
FEZ family zinc finger 1
|
|
FGD4
|
FYVE, RhoGEF and PH domain containing 4
|
|
FGF17
|
fibroblast growth factor 17
|
|
FGF23
|
fibroblast growth factor 23
|
|
FGF8
|
fibroblast growth factor 8 (androgen-induced)
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
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
|
|
FLNC
|
filamin C, gamma
|
|
FLRT3
|
fibronectin leucine rich transmembrane protein 3
|
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXC2
|
forkhead box C2
|
|
FOXE1
|
forkhead box E1
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
GAA
|
glucosidase, alpha; acid
|
|
GAN
|
gigaxonin
|
|
GARS
|
glycyl-tRNA synthetase
|
|
GATM
|
glycine amidinotransferase (L-arginine:glycine amidinotransferase)
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GFPT1
|
glutamine--fructose-6-phosphate transaminase 1
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GM2A
|
GM2 ganglioside activator
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
GPI
|
glucose-6-phosphate isomerase
|
|
GRIA3
|
glutamate receptor, ionotropic, AMPA 3
|
|
GSN
|
gelsolin
|
|
GYG1
|
glycogenin 1
|
|
HADHA
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
|
|
HADHB
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
|
|
HBB
|
hemoglobin, beta
|
|
HCRT
|
hypocretin (orexin) neuropeptide precursor
|
|
HESX1
|
HESX homeobox 1
|
|
HEXA
|
hexosaminidase A (alpha polypeptide)
|
|
HEXB
|
hexosaminidase B (beta polypeptide)
|
|
HINT1
|
histidine triad nucleotide binding protein 1
|
|
HK1
|
hexokinase 1
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DQB1
|
major histocompatibility complex, class II, DQ beta 1
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
HNRNPDL
|
heterogeneous nuclear ribonucleoprotein D-like
|
|
HOXB1
|
homeobox B1
|
|
HS6ST1
|
heparan sulfate 6-O-sulfotransferase 1
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
HSPB3
|
heat shock 27kDa protein 3
|
|
HSPB8
|
heat shock 22kDa protein 8
|
|
HSPD1
|
heat shock 60kDa protein 1 (chaperonin)
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
IL12B
|
interleukin 12B
|
|
IL17RD
|
interleukin 17 receptor D
|
|
INF2
|
inverted formin, FH2 and WH2 domain containing
|
|
INS
|
insulin
|
|
IRF5
|
interferon regulatory factor 5
|
|
ISCU
|
iron-sulfur cluster assembly enzyme
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
KARS
|
lysyl-tRNA synthetase
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KBTBD13
|
kelch repeat and BTB (POZ) domain containing 13
|
|
KCNJ1
|
potassium channel, inwardly rectifying subfamily J, member 1
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KIAA0196
|
KIAA0196
|
|
KIF1A
|
kinesin family member 1A
|
|
KIF1B
|
kinesin family member 1B
|
|
KIF5A
|
kinesin family member 5A
|
|
KISS1R
|
KISS1 receptor
|
|
KLHL41
|
kelch-like family member 41
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT14
|
keratin 14, type I
|
|
KRT5
|
keratin 5, type II
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
LAMA2
|
laminin, alpha 2
|
|
LAMP2
|
lysosomal-associated membrane protein 2
|
|
LARGE
|
like-glycosyltransferase
|
|
LBR
|
lamin B receptor
|
|
LDB3
|
LIM domain binding 3
|
|
LITAF
|
lipopolysaccharide-induced TNF factor
|
|
LMNA
|
lamin A/C
|
|
LPIN1
|
lipin 1
|
|
LRP4
|
low density lipoprotein receptor-related protein 4
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LRSAM1
|
leucine rich repeat and sterile alpha motif containing 1
|
|
LYRM7
|
LYR motif containing 7
|
|
LYST
|
lysosomal trafficking regulator
|
|
MATR3
|
matrin 3
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED25
|
mediator complex subunit 25
|
|
MEGF10
|
multiple EGF-like-domains 10
|
|
MFN2
|
mitofusin 2
|
|
MGME1
|
mitochondrial genome maintenance exonuclease 1
|
|
MLX
|
MLX, MAX dimerization protein
|
|
MOG
|
myelin oligodendrocyte glycoprotein
|
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
|
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-TK
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
MTAP
|
methylthioadenosine phosphorylase
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MTM1
|
myotubularin 1
|
|
MTMR2
|
myotubularin related protein 2
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
MYF6
|
myogenic factor 6 (herculin)
|
|
MYH14
|
myosin, heavy chain 14, non-muscle
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYOT
|
myotilin
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
NBN
|
nibrin
|
|
ND1
|
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
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
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NF1
|
neurofibromin 1
|
|
NF2
|
neurofibromin 2 (merlin)
|
|
NFU1
|
NFU1 iron-sulfur cluster scaffold
|
|
NIPA1
|
non imprinted in Prader-Willi/Angelman syndrome 1
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NSMF
|
NMDA receptor synaptonuclear signaling and neuronal migration factor
|
|
NUBPL
|
nucleotide binding protein-like
|
|
OAT
|
ornithine aminotransferase
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
OPTN
|
optineurin
|
|
ORAI1
|
ORAI calcium release-activated calcium modulator 1
|
|
P2RY11
|
purinergic receptor P2Y, G-protein coupled, 11
|
|
PABPN1
|
poly(A) binding protein, nuclear 1
|
|
PAX8
|
paired box 8
|
|
PCNA
|
proliferating cell nuclear antigen
|
|
PDE11A
|
phosphodiesterase 11A
|
|
PDE8B
|
phosphodiesterase 8B
|
|
PET100
|
PET100 homolog (S. cerevisiae)
|
|
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
|
|
PFKM
|
phosphofructokinase, muscle
|
|
PFN1
|
profilin 1
|
|
PGM1
|
phosphoglucomutase 1
|
|
PHKA1
|
phosphorylase kinase, alpha 1 (muscle)
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLEC
|
plectin
|
|
PLEKHG5
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
|
PLP1
|
proteolipid protein 1
|
|
PMM2
|
phosphomannomutase 2
|
|
PMP22
|
peripheral myelin protein 22
|
|
PNPLA2
|
patatin-like phospholipase domain containing 2
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLG2
|
polymerase (DNA directed), gamma 2, accessory subunit
|
|
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
|
|
PRKACA
|
protein kinase, cAMP-dependent, catalytic, alpha
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRNP
|
prion protein
|
|
PROK2
|
prokineticin 2
|
|
PROKR2
|
prokineticin receptor 2
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRX
|
periaxin
|
|
PSAP
|
prosaposin
|
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
PTRF
|
polymerase I and transcript release factor
|
|
PUS1
|
pseudouridylate synthase 1
|
|
PYGM
|
phosphorylase, glycogen, muscle
|
|
RAB7A
|
RAB7A, member RAS oncogene family
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RARS2
|
arginyl-tRNA synthetase 2, mitochondrial
|
|
RBCK1
|
RanBP-type and C3HC4-type zinc finger containing 1
|
|
REEP1
|
receptor accessory protein 1
|
|
RIT1
|
Ras-like without CAAX 1
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RTN2
|
reticulon 2
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SACS
|
sacsin molecular chaperone
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SBF2
|
SET binding factor 2
|
|
SCN11A
|
sodium channel, voltage gated, type XI alpha subunit
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SCNN1B
|
sodium channel, non voltage gated 1 beta subunit
|
|
SCNN1G
|
sodium channel, non voltage gated 1 gamma subunit
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SDHAF1
|
succinate dehydrogenase complex assembly factor 1
|
|
SEMA3A
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SEPN1
|
selenoprotein N, 1
|
|
SEPT9
|
septin 9
|
|
SETX
|
senataxin
|
|
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
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SIX1
|
SIX homeobox 1
|
|
SIX5
|
SIX homeobox 5
|
|
SKI
|
SKI proto-oncogene
|
|
SLC12A1
|
solute carrier family 12 (sodium/potassium/chloride transporter), member 1
|
|
SLC12A3
|
solute carrier family 12 (sodium/chloride transporter), member 3
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC22A5
|
solute carrier family 22 (organic cation/carnitine transporter), member 5
|
|
SLC25A19
|
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
|
|
SLC25A20
|
solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC33A1
|
solute carrier family 33 (acetyl-CoA transporter), member 1
|
|
SLC34A1
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
|
|
SLC34A3
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
|
|
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
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SLC7A7
|
solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SMCHD1
|
structural maintenance of chromosomes flexible hinge domain containing 1
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SOS1
|
son of sevenless homolog 1 (Drosophila)
|
|
SOST
|
sclerostin
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SPAST
|
spastin
|
|
SPEG
|
SPEG complex locus
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPG20
|
spastic paraplegia 20 (Troyer syndrome)
|
|
SPG21
|
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SPRY4
|
sprouty homolog 4 (Drosophila)
|
|
SPTLC1
|
serine palmitoyltransferase, long chain base subunit 1
|
|
SPTLC2
|
serine palmitoyltransferase, long chain base subunit 2
|
|
STAC3
|
SH3 and cysteine rich domain 3
|
|
STIM1
|
stromal interaction molecule 1
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
SYNE1
|
spectrin repeat containing, nuclear envelope 1
|
|
SYNE2
|
spectrin repeat containing, nuclear envelope 2
|
|
TACO1
|
translational activator of mitochondrially encoded cytochrome c oxidase I
|
|
TACR3
|
tachykinin receptor 3
|
|
TARDBP
|
TAR DNA binding protein
|
|
TAZ
|
tafazzin
|
|
TCAP
|
titin-cap
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TCN2
|
transcobalamin II
|
|
TFG
|
TRK-fused gene
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGM6
|
transglutaminase 6
|
|
TIA1
|
TIA1 cytotoxic granule-associated RNA binding protein
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TMEM165
|
transmembrane protein 165
|
|
TMEM43
|
transmembrane protein 43
|
|
TMEM5
|
transmembrane protein 5
|
|
TNFRSF11B
|
tumor necrosis factor receptor superfamily, member 11b
|
|
TNFSF4
|
tumor necrosis factor (ligand) superfamily, member 4
|
|
TNNT1
|
troponin T type 1 (skeletal, slow)
|
|
TNPO3
|
transportin 3
|
|
TNXB
|
tenascin XB
|
|
TPI1
|
triosephosphate isomerase 1
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TPM3
|
tropomyosin 3
|
|
TRAPPC11
|
trafficking protein particle complex 11
|
|
TRDN
|
triadin
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TRH
|
thyrotropin-releasing hormone
|
|
TRIM2
|
tripartite motif containing 2
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRNE
|
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TSFM
|
Ts translation elongation factor, mitochondrial
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
TTC19
|
tetratricopeptide repeat domain 19
|
|
TTN
|
titin
|
|
TTPA
|
tocopherol (alpha) transfer protein
|
|
TTR
|
transthyretin
|
|
TUBB3
|
tubulin, beta 3 class III
|
|
TYMP
|
thymidine phosphorylase
|
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
|
UBE3B
|
ubiquitin protein ligase E3B
|
|
VAPB
|
VAMP (vesicle-associated membrane protein)-associated protein B and C
|
|
VCP
|
valosin containing protein
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
VRK1
|
vaccinia related kinase 1
|
|
WDR11
|
WD repeat domain 11
|
|
WISP3
|
WNT1 inducible signaling pathway protein 3
|
|
XK
|
X-linked Kx blood group
|
|
YARS
|
tyrosyl-tRNA synthetase
|
|
YARS2
|
tyrosyl-tRNA synthetase 2, mitochondrial
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
|
ZFYVE27
|
zinc finger, FYVE domain containing 27
|
|
ZNF365
|
zinc finger protein 365
|
