| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
AARS1
|
alanyl-tRNA synthetase 1
|
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ACER3
|
alkaline ceramidase 3
|
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
|
ACTL6B
|
actin-like 6B
|
|
ADA2
|
adenosine deaminase 2
|
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
ADNP
|
activity-dependent neuroprotector homeobox
|
|
ADPRS
|
ADP-ribosylserine hydrolase
|
|
AGA
|
aspartylglucosaminidase
|
|
AGTPBP1
|
ATP/GTP binding protein 1
|
|
AHCY
|
adenosylhomocysteinase
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
AP3B2
|
adaptor-related protein complex 3, beta 2 subunit
|
|
APOPT1
|
apoptogenic 1, mitochondrial
|
|
ARHGEF9
|
Cdc42 guanine nucleotide exchange factor (GEF) 9
|
|
ARSA
|
arylsulfatase A
|
|
ARV1
|
ARV1 homolog (S. cerevisiae)
|
|
ARX
|
aristaless related homeobox
|
|
ASPA
|
aspartoacylase
|
|
ATP6V1A
|
ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
AUTS2
|
autism susceptibility candidate 2
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
BOLA3
|
bolA family member 3
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNA1B
|
calcium channel, voltage-dependent, N type, alpha 1B subunit
|
|
CAD
|
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
|
|
CARS2
|
cysteinyl-tRNA synthetase 2, mitochondrial (putative)
|
|
CASK
|
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
|
|
CCR1
|
chemokine (C-C motif) receptor 1
|
|
CCR5
|
chemokine (C-C motif) receptor 5 (gene/pseudogene)
|
|
CDK13
|
cyclin-dependent kinase 13
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CHD2
|
chromodomain helicase DNA binding protein 2
|
|
CIC
|
capicua transcriptional repressor
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
CLN5
|
ceroid-lipofuscinosis, neuronal 5
|
|
CLN6
|
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
|
|
CLN8
|
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
|
|
CLPB
|
ClpB homolog, mitochondrial AAA ATPase chaperonin
|
|
CLTC
|
clathrin, heavy chain (Hc)
|
|
CNKSR2
|
connector enhancer of kinase suppressor of Ras 2
|
|
CNPY3
|
canopy FGF signaling regulator 3
|
|
COASY
|
CoA synthase
|
|
COG8
|
component of oligomeric golgi complex 8
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
COQ8A
|
coenzyme Q8A
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
COX4I1
|
cytochrome c oxidase subunit IV isoform 1
|
|
CPLX1
|
complexin 1
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CX3CR1
|
chemokine (C-X3-C motif) receptor 1
|
|
CYFIP2
|
cytoplasmic FMR1 interacting protein 2
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
DARS1
|
aspartyl-tRNA synthetase 1
|
|
DDB2
|
damage-specific DNA binding protein 2, 48kDa
|
|
DEAF1
|
DEAF1 transcription factor
|
|
DHDDS
|
dehydrodolichyl diphosphate synthase
|
|
DNAJC19
|
DnaJ (Hsp40) homolog, subfamily C, member 19
|
|
DNM1
|
dynamin 1
|
|
DNMT3A
|
DNA (cytosine-5-)-methyltransferase 3 alpha
|
|
EARS2
|
glutamyl-tRNA synthetase 2, mitochondrial
|
|
EBF3
|
early B-cell factor 3
|
|
ECHS1
|
enoyl CoA hydratase, short chain, 1, mitochondrial
|
|
EEF1A2
|
eukaryotic translation elongation factor 1 alpha 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
|
|
EP300
|
E1A binding protein p300
|
|
EPCAM
|
epithelial cell adhesion molecule
|
|
EPRS1
|
glutamyl-prolyl-tRNA synthetase 1
|
|
ERAP1
|
endoplasmic reticulum aminopeptidase 1
|
|
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
|
|
ERLIN2
|
ER lipid raft associated 2
|
|
ETHE1
|
ethylmalonic encephalopathy 1
|
|
FA2H
|
fatty acid 2-hydroxylase
|
|
FAN1
|
FANCD2/FANCI-associated nuclease 1
|
|
FARS2
|
phenylalanyl-tRNA synthetase 2, mitochondrial
|
|
FAS
|
Fas cell surface death receptor
|
|
FGF12
|
fibroblast growth factor 12
|
|
FOLR1
|
folate receptor 1 (adult)
|
|
FOXG1
|
forkhead box G1
|
|
FRRS1L
|
ferric-chelate reductase 1-like
|
|
FTL
|
ferritin, light polypeptide
|
|
GABBR2
|
gamma-aminobutyric acid (GABA) B receptor, 2
|
|
GABRB1
|
gamma-aminobutyric acid (GABA) A receptor, beta 1
|
|
GABRB2
|
gamma-aminobutyric acid (GABA) A receptor, beta 2
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GABRG2
|
gamma-aminobutyric acid (GABA) A receptor, gamma 2
|
|
GALC
|
galactosylceramidase
|
|
GBA
|
glucosidase, beta, acid
|
|
GCDH
|
glutaryl-CoA dehydrogenase
|
|
GFAP
|
glial fibrillary acidic protein
|
|
GFM2
|
G elongation factor, mitochondrial 2
|
|
GLA
|
galactosidase, alpha
|
|
GLRX5
|
glutaredoxin 5
|
|
GM2A
|
GM2 ganglioside activator
|
|
GMPPA
|
GDP-mannose pyrophosphorylase A
|
|
GNAO1
|
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
|
|
GNB1
|
guanine nucleotide binding protein (G protein), beta polypeptide 1
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GRIN2B
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
|
|
GRIN2D
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2D
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
GUF1
|
GUF1 GTPase homolog (S. cerevisiae)
|
|
HACE1
|
HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
|
|
HCN1
|
hyperpolarization activated cyclic nucleotide gated potassium channel 1
|
|
HEXA
|
hexosaminidase A (alpha polypeptide)
|
|
HIBCH
|
3-hydroxyisobutyryl-CoA hydrolase
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HNRNPH2
|
heterogeneous nuclear ribonucleoprotein H2 (H')
|
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
|
HTT
|
huntingtin
|
|
IBA57
|
IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IL10
|
interleukin 10
|
|
IL12A
|
interleukin 12A
|
|
IL23R
|
interleukin 23 receptor
|
|
IQSEC2
|
IQ motif and Sec7 domain 2
|
|
IRF2BPL
|
interferon regulatory factor 2 binding protein-like
|
|
IRX5
|
iroquois homeobox 5
|
|
ISCA1
|
iron-sulfur cluster assembly 1
|
|
KCNA1
|
potassium channel, voltage gated shaker related subfamily A, member 1
|
|
KCNA2
|
potassium channel, voltage gated shaker related subfamily A, member 2
|
|
KCNB1
|
potassium channel, voltage gated Shab related subfamily B, member 1
|
|
KCNC1
|
potassium channel, voltage gated Shaw related subfamily C, member 1
|
|
KCNT1
|
potassium channel, sodium activated subfamily T, member 1
|
|
KCNT2
|
potassium channel, sodium activated subfamily T, member 2
|
|
KCTD7
|
potassium channel tetramerization domain containing 7
|
|
KLRC4
|
killer cell lectin-like receptor subfamily C, member 4
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
L2HGDH
|
L-2-hydroxyglutarate dehydrogenase
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMBRD1
|
LMBR1 domain containing 1
|
|
LYRM7
|
LYR motif containing 7
|
|
LYST
|
lysosomal trafficking regulator
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MEFV
|
Mediterranean fever
|
|
MLH1
|
mutL homolog 1
|
|
MLH3
|
mutL homolog 3
|
|
MRC1
|
mannose receptor, C type 1
|
|
MRPS34
|
mitochondrial ribosomal protein S34
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MT-ATP6
|
ATP synthase F0 subunit 6
|
|
MT-ND2
|
MTND2
|
|
MT-ND3
|
NADH dehydrogenase, subunit 3 (complex I)
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
NAA15
|
N(alpha)-acetyltransferase 15, NatA auxiliary subunit
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
NAGLU
|
N-acetylglucosaminidase, alpha
|
|
NARS2
|
asparaginyl-tRNA synthetase 2, mitochondrial (putative)
|
|
NAXD
|
NAD(P)HX dehydratase
|
|
NAXE
|
NAD(P)HX epimerase
|
|
NCAM1
|
neural cell adhesion molecule 1
|
|
ND1
|
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NDUFAF3
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
|
|
NDUFAF6
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
|
|
NDUFB8
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa
|
|
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)
|
|
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)
|
|
NDUFV1
|
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
|
|
NDUFV2
|
NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
|
|
NECAP1
|
NECAP endocytosis associated 1
|
|
NEUROD2
|
neuronal differentiation 2
|
|
NGF
|
nerve growth factor (beta polypeptide)
|
|
NGLY1
|
N-glycanase 1
|
|
NMNAT1
|
nicotinamide nucleotide adenylyltransferase 1
|
|
NOTCH3
|
notch 3
|
|
NRXN1
|
neurexin 1
|
|
NTNG1
|
netrin G1
|
|
NTRK2
|
neurotrophic tyrosine kinase, receptor, type 2
|
|
NUP214
|
nucleoporin 214kDa
|
|
NUP62
|
nucleoporin 62kDa
|
|
NUS1
|
nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)
|
|
PARS2
|
prolyl-tRNA synthetase 2, mitochondrial (putative)
|
|
PCDH19
|
protocadherin 19
|
|
PCYT2
|
phosphate cytidylyltransferase 2, ethanolamine
|
|
PDSS2
|
prenyl (decaprenyl) diphosphate synthase, subunit 2
|
|
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
|
|
PHACTR1
|
phosphatase and actin regulator 1
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PIGP
|
phosphatidylinositol glycan anchor biosynthesis, class P
|
|
PIGQ
|
phosphatidylinositol glycan anchor biosynthesis, class Q
|
|
PIGT
|
phosphatidylinositol glycan anchor biosynthesis, class T
|
|
PIGY
|
phosphatidylinositol glycan anchor biosynthesis, class Y
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLCB1
|
phospholipase C, beta 1 (phosphoinositide-specific)
|
|
PMPCB
|
peptidase (mitochondrial processing) beta
|
|
PMS1
|
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
PNKP
|
polynucleotide kinase 3'-phosphatase
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLR3A
|
polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
|
|
PPP3CA
|
protein phosphatase 3, catalytic subunit, alpha isozyme
|
|
PSAP
|
prosaposin
|
|
PTEN
|
phosphatase and tensin homolog
|
|
RANBP2
|
RAN binding protein 2
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RHOBTB2
|
Rho-related BTB domain containing 2
|
|
RNASEH2A
|
ribonuclease H2, subunit A
|
|
RNASEH2B
|
ribonuclease H2, subunit B
|
|
RNASEH2C
|
ribonuclease H2, subunit C
|
|
ROGDI
|
rogdi homolog (Drosophila)
|
|
RPS20
|
ribosomal protein S20
|
|
SAMHD1
|
SAM domain and HD domain 1
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN1B
|
sodium channel, voltage gated, type I beta subunit
|
|
SCN2A
|
sodium channel, voltage gated, type II alpha subunit
|
|
SCN3A
|
sodium channel, voltage gated, type III alpha subunit
|
|
SCN8A
|
sodium channel, voltage gated, type VIII alpha subunit
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SCO2
|
SCO2 cytochrome c oxidase assembly protein
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SDHAF1
|
succinate dehydrogenase complex assembly factor 1
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SEMA4A
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
|
|
SERAC1
|
serine active site containing 1
|
|
SGPL1
|
sphingosine-1-phosphate lyase 1
|
|
SGSH
|
N-sulfoglucosamine sulfohydrolase
|
|
SIK1
|
salt-inducible kinase 1
|
|
SIN3A
|
SIN3 transcription regulator family member A
|
|
SLC12A5
|
solute carrier family 12 (potassium/chloride transporter), member 5
|
|
SLC13A5
|
solute carrier family 13 (sodium-dependent citrate transporter), member 5
|
|
SLC1A2
|
solute carrier family 1 (glial high affinity glutamate transporter), member 2
|
|
SLC25A22
|
solute carrier family 25 (mitochondrial carrier: glutamate), member 22
|
|
SLC25A42
|
solute carrier family 25, member 42
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
SLC2A3
|
solute carrier family 2 (facilitated glucose transporter), member 3
|
|
SLC30A9
|
solute carrier family 30 (zinc transporter), member 9
|
|
SLC39A14
|
solute carrier family 39 (zinc transporter), member 14
|
|
SLC5A6
|
solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6
|
|
SLC6A1
|
solute carrier family 6 (neurotransmitter transporter), member 1
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SON
|
SON DNA binding protein
|
|
SPATA5
|
spermatogenesis associated 5
|
|
SPTAN1
|
spectrin, alpha, non-erythrocytic 1
|
|
ST3GAL3
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
|
|
ST3GAL5
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
STX1B
|
syntaxin 1B
|
|
STXBP1
|
syntaxin binding protein 1
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
SURF1
|
surfeit 1
|
|
SYNE1
|
spectrin repeat containing, nuclear envelope 1
|
|
SYNGAP1
|
synaptic Ras GTPase activating protein 1
|
|
SYNJ1
|
synaptojanin 1
|
|
SZT2
|
seizure threshold 2 homolog (mouse)
|
|
TANGO2
|
transport and golgi organization 2 homolog (Drosophila)
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBCD
|
tubulin folding cofactor D
|
|
TBCE
|
tubulin folding cofactor E
|
|
TBCK
|
TBC1 domain containing kinase
|
|
TBL2
|
transducin (beta)-like 2
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TLR4
|
toll-like receptor 4
|
|
TMLHE
|
trimethyllysine hydroxylase, epsilon
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TRAK1
|
trafficking protein, kinesin binding 1
|
|
TRAPPC11
|
trafficking protein particle complex 11
|
|
TRAPPC12
|
trafficking protein particle complex 12
|
|
TRAPPC2L
|
trafficking protein particle complex 2-like
|
|
TREM2
|
triggering receptor expressed on myeloid cells 2
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TRIM8
|
tripartite motif containing 8
|
|
TTPA
|
tocopherol (alpha) transfer protein
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
TUFM
|
Tu translation elongation factor, mitochondrial
|
|
TYROBP
|
TYRO protein tyrosine kinase binding protein
|
|
UBA5
|
ubiquitin-like modifier activating enzyme 5
|
|
UBAC2
|
UBA domain containing 2
|
|
UBTF
|
upstream binding transcription factor, RNA polymerase I
|
|
VAC14
|
Vac14 homolog (S. cerevisiae)
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WWOX
|
WW domain containing oxidoreductase
|
|
XPA
|
xeroderma pigmentosum, complementation group A
|
|
XPC
|
xeroderma pigmentosum, complementation group C
|
|
YWHAG
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
