| Symbol |
Name |
|
A2ML1
|
alpha-2-macroglobulin-like 1
|
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
AARS2
|
alanyl-tRNA synthetase 2, mitochondrial
|
|
ABCA2
|
ATP-binding cassette, sub-family A (ABC1), member 2
|
|
ABCB7
|
ATP-binding cassette, sub-family B (MDR/TAP), member 7
|
|
ABHD12
|
abhydrolase domain containing 12
|
|
ADA2
|
adenosine deaminase 2
|
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
ADCY5
|
adenylate cyclase 5
|
|
ADH1C
|
alcohol dehydrogenase 1C (class I), gamma polypeptide
|
|
ADPRS
|
ADP-ribosylserine hydrolase
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
ALDH18A1
|
aldehyde dehydrogenase 18 family, member A1
|
|
ALDH3A2
|
aldehyde dehydrogenase 3 family, member A2
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
AMACR
|
alpha-methylacyl-CoA racemase
|
|
ANO10
|
anoctamin 10
|
|
ANOS1
|
anosmin 1
|
|
AP4B1
|
adaptor-related protein complex 4, beta 1 subunit
|
|
APTX
|
aprataxin
|
|
AR
|
androgen receptor
|
|
ARSA
|
arylsulfatase A
|
|
ARX
|
aristaless related homeobox
|
|
ATCAY
|
ataxia, cerebellar, Cayman type
|
|
ATL1
|
atlastin GTPase 1
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATN1
|
atrophin 1
|
|
ATP13A2
|
ATPase type 13A2
|
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATP2B3
|
ATPase, Ca++ transporting, plasma membrane 3
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
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
|
|
AUH
|
AU RNA binding protein/enoyl-CoA hydratase
|
|
B4GALNT1
|
beta-1,4-N-acetyl-galactosaminyl transferase 1
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCAR1
|
breast cancer anti-estrogen resistance 1
|
|
BCL11A
|
B-cell CLL/lymphoma 11A (zinc finger protein)
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BEAN1
|
brain expressed, associated with NEDD4, 1
|
|
BIN1
|
bridging integrator 1
|
|
BIVM-ERCC5
|
BIVM-ERCC5 readthrough
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
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
|
|
CACNB4
|
calcium channel, voltage-dependent, beta 4 subunit
|
|
CAMK4
|
calcium/calmodulin-dependent protein kinase IV
|
|
CAMTA1
|
calmodulin binding transcription activator 1
|
|
CAPN1
|
calpain 1, (mu/I) large subunit
|
|
CCDC141
|
coiled-coil domain containing 141
|
|
CCDC88C
|
coiled-coil domain containing 88C
|
|
CHCHD10
|
coiled-coil-helix-coiled-coil-helix domain containing 10
|
|
CHD2
|
chromodomain helicase DNA binding protein 2
|
|
CHD3
|
chromodomain helicase DNA binding protein 3
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHMP2B
|
charged multivesicular body protein 2B
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRNE
|
cholinergic receptor, nicotinic, epsilon (muscle)
|
|
CIITA
|
class II, major histocompatibility complex, transactivator
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
COA7
|
cytochrome c oxidase assembly factor 7 (putative)
|
|
COASY
|
CoA synthase
|
|
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
|
|
COX15
|
cytochrome c oxidase assembly homolog 15 (yeast)
|
|
COX2
|
|
|
COX3
|
|
|
CP
|
ceruloplasmin (ferroxidase)
|
|
CPLX1
|
complexin 1
|
|
CSE1L
|
CSE1 chromosome segregation 1-like (yeast)
|
|
CSF1R
|
colony stimulating factor 1 receptor
|
|
CSTB
|
cystatin B (stefin B)
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CTNND1
|
catenin (cadherin-associated protein), delta 1
|
|
CTSF
|
cathepsin F
|
|
CWF19L1
|
CWF19-like 1, cell cycle control (S. pombe)
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
DAB1
|
Dab, reelin signal transducer, homolog 1 (Drosophila)
|
|
DARS2
|
aspartyl-tRNA synthetase 2, mitochondrial
|
|
DCAF17
|
DDB1 and CUL4 associated factor 17
|
|
DCC
|
DCC netrin 1 receptor
|
|
DCTN1
|
dynactin 1
|
|
DCX
|
doublecortin
|
|
DDC
|
dopa decarboxylase (aromatic L-amino acid decarboxylase)
|
|
DDHD2
|
DDHD domain containing 2
|
|
DEGS1
|
delta(4)-desaturase, sphingolipid 1
|
|
DGKK
|
diacylglycerol kinase, kappa
|
|
DMXL2
|
Dmx-like 2
|
|
DNAJB6
|
DnaJ (Hsp40) homolog, subfamily B, member 6
|
|
DNAJC6
|
DnaJ (Hsp40) homolog, subfamily C, member 6
|
|
DNM1L
|
dynamin 1-like
|
|
DRD3
|
dopamine receptor D3
|
|
DUSP6
|
dual specificity phosphatase 6
|
|
DYNC1I2
|
dynein, cytoplasmic 1, intermediate chain 2
|
|
EBF3
|
early B-cell factor 3
|
|
ECHS1
|
enoyl CoA hydratase, short chain, 1, mitochondrial
|
|
EEF2
|
eukaryotic translation elongation factor 2
|
|
EIF2B1
|
eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
|
|
EIF2B2
|
eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
|
|
EIF2B3
|
eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
|
|
EIF2B4
|
eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
|
|
EIF2B5
|
eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
|
|
ELN
|
elastin
|
|
ELOVL1
|
ELOVL fatty acid elongase 1
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
ELOVL5
|
ELOVL fatty acid elongase 5
|
|
ENTPD1
|
ectonucleoside triphosphate diphosphohydrolase 1
|
|
EPCAM
|
epithelial cell adhesion molecule
|
|
EPM2A
|
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC3
|
excision repair cross-complementation group 3
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC5
|
excision repair cross-complementation group 5
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
ERLIN1
|
ER lipid raft associated 1
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
FA2H
|
fatty acid 2-hydroxylase
|
|
FAM126A
|
family with sequence similarity 126, member A
|
|
FAN1
|
FANCD2/FANCI-associated nuclease 1
|
|
FARS2
|
phenylalanyl-tRNA synthetase 2, mitochondrial
|
|
FAT2
|
FAT atypical cadherin 2
|
|
FBXL3
|
F-box and leucine-rich repeat protein 3
|
|
FBXO7
|
F-box protein 7
|
|
FEZF1
|
FEZ family zinc finger 1
|
|
FGF14
|
fibroblast growth factor 14
|
|
FGF17
|
fibroblast growth factor 17
|
|
FGF8
|
fibroblast growth factor 8 (androgen-induced)
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FIGNL1
|
fidgetin-like 1
|
|
FLRT1
|
fibronectin leucine rich transmembrane protein 1
|
|
FLRT3
|
fibronectin leucine rich transmembrane protein 3
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXP2
|
forkhead box P2
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FTL
|
ferritin, light polypeptide
|
|
FUS
|
FUS RNA binding protein
|
|
FXN
|
frataxin
|
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
|
GAN
|
gigaxonin
|
|
GBA
|
glucosidase, beta, acid
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GCLC
|
glutamate-cysteine ligase, catalytic subunit
|
|
GDAP2
|
ganglioside induced differentiation associated protein 2
|
|
GFM2
|
G elongation factor, mitochondrial 2
|
|
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
|
|
GLE1
|
GLE1 RNA export mediator
|
|
GLRX5
|
glutaredoxin 5
|
|
GLUD2
|
glutamate dehydrogenase 2
|
|
GNAO1
|
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
|
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
|
GOSR2
|
golgi SNAP receptor complex member 2
|
|
GPAA1
|
glycosylphosphatidylinositol anchor attachment 1
|
|
GPT2
|
glutamic pyruvate transaminase (alanine aminotransferase) 2
|
|
GRID2
|
glutamate receptor, ionotropic, delta 2
|
|
GRIN2A
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2A
|
|
GRM1
|
glutamate receptor, metabotropic 1
|
|
GSN
|
gelsolin
|
|
GSS
|
glutathione synthetase
|
|
GTF2E2
|
general transcription factor IIE, polypeptide 2, beta 34kDa
|
|
GTF2H5
|
general transcription factor IIH, polypeptide 5
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HACE1
|
HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
|
|
HEPACAM
|
hepatic and glial cell adhesion molecule
|
|
HESX1
|
HESX homeobox 1
|
|
HEXB
|
hexosaminidase B (beta polypeptide)
|
|
HMGCL
|
3-hydroxymethyl-3-methylglutaryl-CoA lyase
|
|
HOXB1
|
homeobox B1
|
|
HPCA
|
hippocalcin
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HS6ST1
|
heparan sulfate 6-O-sulfotransferase 1
|
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
|
HTRA1
|
HtrA serine peptidase 1
|
|
IFRD1
|
interferon-related developmental regulator 1
|
|
IL17RD
|
interleukin 17 receptor D
|
|
INPP5K
|
inositol polyphosphate-5-phosphatase K
|
|
IRF2BPL
|
interferon regulatory factor 2 binding protein-like
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
JAK2
|
Janus kinase 2
|
|
JMJD8
|
jumonji domain containing 8
|
|
JPH3
|
junctophilin 3
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KCNA1
|
potassium channel, voltage gated shaker related subfamily A, member 1
|
|
KCNA4
|
potassium channel, voltage gated shaker related subfamily A, member 4
|
|
KCNC1
|
potassium channel, voltage gated Shaw related subfamily C, member 1
|
|
KCNC3
|
potassium channel, voltage gated Shaw related subfamily C, member 3
|
|
KCND3
|
potassium channel, voltage gated Shal related subfamily D, member 3
|
|
KCTD17
|
potassium channel tetramerization domain containing 17
|
|
KCTD7
|
potassium channel tetramerization domain containing 7
|
|
KIAA0226
|
KIAA0226
|
|
KIF1C
|
kinesin family member 1C
|
|
KISS1R
|
KISS1 receptor
|
|
KLC2
|
kinesin light chain 2
|
|
KMT2B
|
lysine (K)-specific methyltransferase 2B
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LIMK1
|
LIM domain kinase 1
|
|
LIPT1
|
lipoyltransferase 1
|
|
LMNB1
|
lamin B1
|
|
LRP12
|
low density lipoprotein receptor-related protein 12
|
|
LRP2
|
low density lipoprotein receptor-related protein 2
|
|
LYRM7
|
LYR motif containing 7
|
|
LZTR1
|
leucine-zipper-like transcription regulator 1
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MAPK8IP3
|
mitogen-activated protein kinase 8 interacting protein 3
|
|
MAPT
|
microtubule-associated protein tau
|
|
MARS2
|
methionyl-tRNA synthetase 2, mitochondrial
|
|
MATR3
|
matrin 3
|
|
MCF2L
|
MCF.2 cell line derived transforming sequence-like
|
|
MECR
|
mitochondrial trans-2-enoyl-CoA reductase
|
|
MED13L
|
mediator complex subunit 13-like
|
|
MLH1
|
mutL homolog 1
|
|
MLH3
|
mutL homolog 3
|
|
MME
|
membrane metallo-endopeptidase
|
|
MMUT
|
methylmalonyl-CoA mutase
|
|
MPI
|
mannose phosphate isomerase
|
|
MPL
|
MPL proto-oncogene, thrombopoietin receptor
|
|
MPLKIP
|
M-phase specific PLK1 interacting protein
|
|
MRAS
|
muscle RAS oncogene homolog
|
|
MRE11
|
MRE11 homolog, double strand break repair nuclease
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MT-ATP6
|
ATP synthase F0 subunit 6
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MTFMT
|
mitochondrial methionyl-tRNA formyltransferase
|
|
MTPAP
|
mitochondrial poly(A) polymerase
|
|
MYORG
|
myogenesis regulating glycosidase (putative)
|
|
MYOT
|
myotilin
|
|
ND1
|
|
|
NDUFA10
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
|
|
NDUFA12
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
|
|
NDUFA13
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13
|
|
NDUFA2
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
|
|
NDUFA4
|
NDUFA4, mitochondrial complex associated
|
|
NDUFA9
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
|
|
NDUFAF2
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
|
|
NDUFAF5
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
|
|
NDUFAF6
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
|
|
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)
|
|
NDUFS7
|
NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
|
|
NDUFS8
|
NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
|
|
NDUFV1
|
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
|
|
NDUFV2
|
NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
|
|
NEK1
|
NIMA-related kinase 1
|
|
NFASC
|
neurofascin
|
|
NHLRC1
|
NHL repeat containing E3 ubiquitin protein ligase 1
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NKX6-2
|
NK6 homeobox 2
|
|
NOP56
|
NOP56 ribonucleoprotein
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NPC2
|
Niemann-Pick disease, type C2
|
|
NR4A2
|
nuclear receptor subfamily 4, group A, member 2
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NSMF
|
NMDA receptor synaptonuclear signaling and neuronal migration factor
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
NUBPL
|
nucleotide binding protein-like
|
|
NUP62
|
nucleoporin 62kDa
|
|
OPA3
|
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
|
|
OPTN
|
optineurin
|
|
PABPN1
|
poly(A) binding protein, nuclear 1
|
|
PACS1
|
phosphofurin acidic cluster sorting protein 1
|
|
PANK2
|
pantothenate kinase 2
|
|
PCGF2
|
polycomb group ring finger 2
|
|
PCNA
|
proliferating cell nuclear antigen
|
|
PCYT1A
|
phosphate cytidylyltransferase 1, choline, alpha
|
|
PDE10A
|
phosphodiesterase 10A
|
|
PDE8B
|
phosphodiesterase 8B
|
|
PDGFB
|
platelet-derived growth factor beta polypeptide
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PDHA1
|
pyruvate dehydrogenase (lipoamide) alpha 1
|
|
PDYN
|
prodynorphin
|
|
PET100
|
PET100 homolog (S. cerevisiae)
|
|
PEX10
|
peroxisomal biogenesis factor 10
|
|
PEX16
|
peroxisomal biogenesis factor 16
|
|
PEX2
|
peroxisomal biogenesis factor 2
|
|
PFN1
|
profilin 1
|
|
PGM3
|
phosphoglucomutase 3
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3R5
|
phosphoinositide-3-kinase, regulatory subunit 5
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLD3
|
phospholipase D family, member 3
|
|
PLEKHG4
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 4
|
|
PLP1
|
proteolipid protein 1
|
|
PMM2
|
phosphomannomutase 2
|
|
PMPCA
|
peptidase (mitochondrial processing) alpha
|
|
PMS1
|
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
PNKD
|
paroxysmal nonkinesigenic dyskinesia
|
|
PNKP
|
polynucleotide kinase 3'-phosphatase
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
PNPLA8
|
patatin-like phospholipase domain containing 8
|
|
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
|
|
PPP1R15B
|
protein phosphatase 1, regulatory subunit 15B
|
|
PPP2R2B
|
protein phosphatase 2, regulatory subunit B, beta
|
|
PRDM8
|
PR domain containing 8
|
|
PRICKLE1
|
prickle homolog 1 (Drosophila)
|
|
PRKCG
|
protein kinase C, gamma
|
|
PRKRA
|
protein kinase, interferon-inducible double stranded RNA dependent activator
|
|
PRNP
|
prion protein
|
|
PROK2
|
prokineticin 2
|
|
PROKR2
|
prokineticin receptor 2
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PSAP
|
prosaposin
|
|
PSD
|
pleckstrin and Sec7 domain containing
|
|
PSEN1
|
presenilin 1
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PUM1
|
pumilio RNA-binding family member 1
|
|
RAB39B
|
RAB39B, member RAS oncogene family
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RAI1
|
retinoic acid induced 1
|
|
RANBP2
|
RAN binding protein 2
|
|
RARS1
|
arginyl-tRNA synthetase 1
|
|
RASA2
|
RAS p21 protein activator 2
|
|
REEP1
|
receptor accessory protein 1
|
|
REPS1
|
RALBP1 associated Eps domain containing 1
|
|
RFC1
|
replication factor C (activator 1) 1, 145kDa
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RFX5
|
regulatory factor X, 5 (influences HLA class II expression)
|
|
RFXANK
|
regulatory factor X-associated ankyrin-containing protein
|
|
RFXAP
|
regulatory factor X-associated protein
|
|
RIT1
|
Ras-like without CAAX 1
|
|
RNASEH1
|
ribonuclease H1
|
|
RNF113A
|
ring finger protein 113A
|
|
RNF216
|
ring finger protein 216
|
|
RPIA
|
ribose 5-phosphate isomerase A
|
|
RPS20
|
ribosomal protein S20
|
|
RRAS
|
related RAS viral (r-ras) oncogene homolog
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
RTTN
|
rotatin
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
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
|
|
SCO2
|
SCO2 cytochrome c oxidase assembly protein
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SEMA3A
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
|
|
SEMA4A
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
|
|
SEPSECS
|
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
|
|
SERPINI1
|
serpin peptidase inhibitor, clade I (neuroserpin), member 1
|
|
SETX
|
senataxin
|
|
SIGMAR1
|
sigma non-opioid intracellular receptor 1
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SLC13A3
|
solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLC18A2
|
solute carrier family 18 (vesicular monoamine transporter), member 2
|
|
SLC19A3
|
solute carrier family 19 (thiamine transporter), member 3
|
|
SLC1A3
|
solute carrier family 1 (glial high affinity glutamate transporter), member 3
|
|
SLC20A2
|
solute carrier family 20 (phosphate transporter), member 2
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC30A10
|
solute carrier family 30, member 10
|
|
SLC35A1
|
solute carrier family 35 (CMP-sialic acid transporter), member A1
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SLC6A1
|
solute carrier family 6 (neurotransmitter transporter), member 1
|
|
SLC9A1
|
solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
|
|
SMS
|
spermine synthase
|
|
SNAP25
|
synaptosomal-associated protein, 25kDa
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SNCAIP
|
synuclein, alpha interacting protein
|
|
SOS1
|
son of sevenless homolog 1 (Drosophila)
|
|
SOS2
|
son of sevenless homolog 2 (Drosophila)
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SPART
|
spartin
|
|
SPAST
|
spastin
|
|
SPEG
|
SPEG complex locus
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SPR
|
sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
|
|
SPRY4
|
sprouty homolog 4 (Drosophila)
|
|
SPTBN2
|
spectrin, beta, non-erythrocytic 2
|
|
SQSTM1
|
sequestosome 1
|
|
SRPX2
|
sushi-repeat containing protein, X-linked 2
|
|
STAC3
|
SH3 and cysteine rich domain 3
|
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
SURF1
|
surfeit 1
|
|
SYNE1
|
spectrin repeat containing, nuclear envelope 1
|
|
SYNJ1
|
synaptojanin 1
|
|
SYT14
|
synaptotagmin XIV
|
|
TACO1
|
translational activator of mitochondrially encoded cytochrome c oxidase I
|
|
TACR3
|
tachykinin receptor 3
|
|
TANGO2
|
transport and golgi organization 2 homolog (Drosophila)
|
|
TARDBP
|
TAR DNA binding protein
|
|
TBC1D23
|
TBC1 domain family, member 23
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBCE
|
tubulin folding cofactor E
|
|
TBK1
|
TANK-binding kinase 1
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBP
|
TATA box binding protein
|
|
TDP1
|
tyrosyl-DNA phosphodiesterase 1
|
|
TECPR2
|
tectonin beta-propeller repeat containing 2
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TGM6
|
transglutaminase 6
|
|
THAP1
|
THAP domain containing, apoptosis associated protein 1
|
|
THPO
|
thrombopoietin
|
|
TIMM8A
|
translocase of inner mitochondrial membrane 8 homolog A (yeast)
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TMEM106B
|
transmembrane protein 106B
|
|
TMEM11
|
transmembrane protein 11
|
|
TMEM240
|
transmembrane protein 240
|
|
TOP3A
|
topoisomerase (DNA) III alpha
|
|
TOR1A
|
torsin family 1, member A (torsin A)
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TRAPPC11
|
trafficking protein particle complex 11
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TRIM37
|
tripartite motif containing 37
|
|
TTBK2
|
tau tubulin kinase 2
|
|
TTC19
|
tetratricopeptide repeat domain 19
|
|
TTN
|
titin
|
|
TTPA
|
tocopherol (alpha) transfer protein
|
|
TTR
|
transthyretin
|
|
TUBB3
|
tubulin, beta 3 class III
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
TWNK
|
twinkle mtDNA helicase
|
|
UBA5
|
ubiquitin-like modifier activating enzyme 5
|
|
UBQLN2
|
ubiquilin 2
|
|
UROC1
|
urocanate hydratase 1
|
|
VAMP1
|
vesicle-associated membrane protein 1 (synaptobrevin 1)
|
|
VAPB
|
VAMP (vesicle-associated membrane protein)-associated protein B and C
|
|
VCP
|
valosin containing protein
|
|
VLDLR
|
very low density lipoprotein receptor
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
VPS13D
|
vacuolar protein sorting 13 homolog D (S. cerevisiae)
|
|
VWA3B
|
von Willebrand factor A domain containing 3B
|
|
WDR11
|
WD repeat domain 11
|
|
WDR73
|
WD repeat domain 73
|
|
WDR81
|
WD repeat domain 81
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WIPI2
|
WD repeat domain, phosphoinositide interacting 2
|
|
WWOX
|
WW domain containing oxidoreductase
|
|
XK
|
X-linked Kx blood group
|
|
XPA
|
xeroderma pigmentosum, complementation group A
|
|
XPR1
|
xenotropic and polytropic retrovirus receptor 1
|
|
XRCC1
|
X-ray repair complementing defective repair in Chinese hamster cells 1
|
|
XRCC4
|
X-ray repair complementing defective repair in Chinese hamster cells 4
|
|
ZBTB11
|
zinc finger and BTB domain containing 11
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
|
ZNF592
|
zinc finger protein 592
|
