| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
ABAT
|
4-aminobutyrate aminotransferase
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ABCD4
|
ATP-binding cassette, sub-family D (ALD), member 4
|
|
ACADM
|
acyl-CoA dehydrogenase, C-4 to C-12 straight chain
|
|
ACADS
|
acyl-CoA dehydrogenase, C-2 to C-3 short chain
|
|
ACADSB
|
acyl-CoA dehydrogenase, short/branched chain
|
|
ACAT2
|
acetyl-CoA acetyltransferase 2
|
|
ACO2
|
aconitase 2, mitochondrial
|
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
|
ACSF3
|
acyl-CoA synthetase family member 3
|
|
ACTB
|
actin, beta
|
|
ACY1
|
aminoacylase 1
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
ADGRG1
|
adhesion G protein-coupled receptor G1
|
|
ADK
|
adenosine kinase
|
|
ADNP
|
activity-dependent neuroprotector homeobox
|
|
ADSL
|
adenylosuccinate lyase
|
|
AHCY
|
adenosylhomocysteinase
|
|
AHDC1
|
AT hook, DNA binding motif, containing 1
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
AIMP1
|
aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
|
|
ALDH18A1
|
aldehyde dehydrogenase 18 family, member A1
|
|
ALDH5A1
|
aldehyde dehydrogenase 5 family, member A1
|
|
ALG1
|
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
|
|
ALG11
|
ALG11, alpha-1,2-mannosyltransferase
|
|
ALG13
|
ALG13, UDP-N-acetylglucosaminyltransferase subunit
|
|
ALG3
|
ALG3, alpha-1,3- mannosyltransferase
|
|
ALG6
|
ALG6, alpha-1,3-glucosyltransferase
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
AMPD2
|
adenosine monophosphate deaminase 2
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
AP1S1
|
adaptor-related protein complex 1, sigma 1 subunit
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
AP4B1
|
adaptor-related protein complex 4, beta 1 subunit
|
|
AP4E1
|
adaptor-related protein complex 4, epsilon 1 subunit
|
|
AP4S1
|
adaptor-related protein complex 4, sigma 1 subunit
|
|
ARFGEF2
|
ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
|
|
ARG1
|
arginase 1
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ARL13B
|
ADP-ribosylation factor-like 13B
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARNT2
|
aryl-hydrocarbon receptor nuclear translocator 2
|
|
ARSE
|
arylsulfatase E (chondrodysplasia punctata 1)
|
|
ARX
|
aristaless related homeobox
|
|
ASL
|
argininosuccinate lyase
|
|
ASNS
|
asparagine synthetase (glutamine-hydrolyzing)
|
|
ASS1
|
argininosuccinate synthase 1
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATCAY
|
ataxia, cerebellar, Cayman type
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATPAF2
|
ATP synthase mitochondrial F1 complex assembly factor 2
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
AUH
|
AU RNA binding protein/enoyl-CoA hydratase
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
B3GNT1
|
|
|
B4GALT1
|
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
|
|
B4GALT7
|
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
|
|
BBS1
|
Bardet-Biedl syndrome 1
|
|
BBS10
|
Bardet-Biedl syndrome 10
|
|
BBS12
|
Bardet-Biedl syndrome 12
|
|
BBS2
|
Bardet-Biedl syndrome 2
|
|
BBS4
|
Bardet-Biedl syndrome 4
|
|
BBS5
|
Bardet-Biedl syndrome 5
|
|
BBS7
|
Bardet-Biedl syndrome 7
|
|
BBS9
|
Bardet-Biedl syndrome 9
|
|
BCAP31
|
B-cell receptor-associated protein 31
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BMPER
|
BMP binding endothelial regulator
|
|
BOLA3
|
bolA family member 3
|
|
BRAT1
|
BRCA1-associated ATM activator 1
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BTD
|
biotinidase
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C12ORF57
|
chromosome 12 open reading frame 57
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
CACNA1D
|
calcium channel, voltage-dependent, L type, alpha 1D subunit
|
|
CAMTA1
|
calmodulin binding transcription activator 1
|
|
CASK
|
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
|
|
CBL
|
Cbl proto-oncogene, E3 ubiquitin protein ligase
|
|
CC2D1A
|
coiled-coil and C2 domain containing 1A
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCND2
|
cyclin D2
|
|
CD96
|
CD96 molecule
|
|
CDC6
|
cell division cycle 6
|
|
CDK5RAP2
|
CDK5 regulatory subunit associated protein 2
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CDON
|
cell adhesion associated, oncogene regulated
|
|
CEP164
|
centrosomal protein 164kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CEP63
|
centrosomal protein 63kDa
|
|
CHD2
|
chromodomain helicase DNA binding protein 2
|
|
CHMP1A
|
charged multivesicular body protein 1A
|
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
|
CLIC2
|
chloride intracellular channel 2
|
|
CLP1
|
cleavage and polyadenylation factor I subunit 1
|
|
COA5
|
cytochrome c oxidase assembly factor 5
|
|
COG1
|
component of oligomeric golgi complex 1
|
|
COG6
|
component of oligomeric golgi complex 6
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COL4A2
|
collagen, type IV, alpha 2
|
|
COLEC11
|
collectin sub-family member 11
|
|
COQ9
|
coenzyme Q9
|
|
CORO1A
|
coronin, actin binding protein, 1A
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX14
|
COX14 cytochrome c oxidase assembly factor
|
|
COX15
|
cytochrome c oxidase assembly homolog 15 (yeast)
|
|
COX20
|
COX20 cytochrome c oxidase assembly factor
|
|
COX4I2
|
cytochrome c oxidase subunit IV isoform 2 (lung)
|
|
COX6B1
|
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
|
|
COX7B
|
cytochrome c oxidase subunit VIIb
|
|
CPS1
|
carbamoyl-phosphate synthase 1, mitochondrial
|
|
CRBN
|
cereblon
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
CTCF
|
CCCTC-binding factor (zinc finger protein)
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CYB5R3
|
cytochrome b5 reductase 3
|
|
D2HGDH
|
D-2-hydroxyglutarate dehydrogenase
|
|
DAG1
|
dystroglycan 1 (dystrophin-associated glycoprotein 1)
|
|
DDC
|
dopa decarboxylase (aromatic L-amino acid decarboxylase)
|
|
DDHD2
|
DDHD domain containing 2
|
|
DDOST
|
dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
|
|
DDR2
|
discoidin domain receptor tyrosine kinase 2
|
|
DDX11
|
DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
|
|
DEAF1
|
DEAF1 transcription factor
|
|
DHCR24
|
24-dehydrocholesterol reductase
|
|
DHFR
|
dihydrofolate reductase
|
|
DIS3L2
|
DIS3 like 3'-5' exoribonuclease 2
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DLAT
|
dihydrolipoamide S-acetyltransferase
|
|
DLD
|
dihydrolipoamide dehydrogenase
|
|
DLG3
|
discs, large homolog 3 (Drosophila)
|
|
DNA2
|
DNA replication helicase/nuclease 2
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
DOCK7
|
dedicator of cytokinesis 7
|
|
DOCK8
|
dedicator of cytokinesis 8
|
|
DPAGT1
|
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
|
|
DPM1
|
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
|
|
DPM2
|
dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
|
|
DYM
|
dymeclin
|
|
DYRK1A
|
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
|
|
EARS2
|
glutamyl-tRNA synthetase 2, mitochondrial
|
|
EDNRB
|
endothelin receptor type B
|
|
EFNB1
|
ephrin-B1
|
|
EFTUD2
|
elongation factor Tu GTP binding domain containing 2
|
|
EGF
|
epidermal growth factor
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
EIF4A3
|
eukaryotic translation initiation factor 4A3
|
|
ELAC2
|
elaC ribonuclease Z 2
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
EP300
|
E1A binding protein p300
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERMARD
|
ER membrane-associated RNA degradation
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
ETHE1
|
ethylmalonic encephalopathy 1
|
|
EXOSC3
|
exosome component 3
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FANCL
|
Fanconi anemia, complementation group L
|
|
FARS2
|
phenylalanyl-tRNA synthetase 2, mitochondrial
|
|
FASTKD2
|
FAST kinase domains 2
|
|
FBXL4
|
F-box and leucine-rich repeat protein 4
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FH
|
fumarate hydratase
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FTO
|
fat mass and obesity associated
|
|
G6PC3
|
glucose 6 phosphatase, catalytic, 3
|
|
GABRA1
|
gamma-aminobutyric acid (GABA) A receptor, alpha 1
|
|
GAD1
|
glutamate decarboxylase 1 (brain, 67kDa)
|
|
GALE
|
UDP-galactose-4-epimerase
|
|
GAMT
|
guanidinoacetate N-methyltransferase
|
|
GATA6
|
GATA binding protein 6
|
|
GATM
|
glycine amidinotransferase (L-arginine:glycine amidinotransferase)
|
|
GBA
|
glucosidase, beta, acid
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GFER
|
growth factor, augmenter of liver regeneration
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GK
|
glycerol kinase
|
|
GLI2
|
GLI family zinc finger 2
|
|
GLUL
|
glutamate-ammonia ligase
|
|
GLYCTK
|
glycerate kinase
|
|
GM2A
|
GM2 ganglioside activator
|
|
GMPPA
|
GDP-mannose pyrophosphorylase A
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GNAO1
|
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GRIN2A
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2A
|
|
GRM1
|
glutamate receptor, metabotropic 1
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
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
|
|
HAX1
|
HCLS1 associated protein X-1
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC8
|
histone deacetylase 8
|
|
HERC2
|
HECT and RLD domain containing E3 ubiquitin protein ligase 2
|
|
HESX1
|
HESX homeobox 1
|
|
HLCS
|
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HSPD1
|
heat shock 60kDa protein 1 (chaperonin)
|
|
IDH2
|
isocitrate dehydrogenase 2 (NADP+), mitochondrial
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IER3IP1
|
immediate early response 3 interacting protein 1
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IFT27
|
intraflagellar transport 27
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
INS
|
insulin
|
|
INSR
|
insulin receptor
|
|
IRX5
|
iroquois homeobox 5
|
|
ITCH
|
itchy E3 ubiquitin protein ligase
|
|
IVD
|
isovaleryl-CoA dehydrogenase
|
|
JAM3
|
junctional adhesion molecule 3
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KARS
|
lysyl-tRNA synthetase
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KCNJ1
|
potassium channel, inwardly rectifying subfamily J, member 1
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KCNQ2
|
potassium channel, voltage gated KQT-like subfamily Q, member 2
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KIAA0196
|
KIAA0196
|
|
KIAA1033
|
KIAA1033
|
|
KIAA2022
|
KIAA2022
|
|
KIF1A
|
kinesin family member 1A
|
|
KIF1BP
|
KIF1 binding protein
|
|
KIF2A
|
kinesin heavy chain member 2A
|
|
KIF5C
|
kinesin family member 5C
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KPTN
|
kaptin (actin binding protein)
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LAMB1
|
laminin, beta 1
|
|
LAMC3
|
laminin, gamma 3
|
|
LAMP2
|
lysosomal-associated membrane protein 2
|
|
LARGE
|
like-glycosyltransferase
|
|
LIAS
|
lipoic acid synthetase
|
|
LINS
|
lines homolog (Drosophila)
|
|
LMBRD1
|
LMBR1 domain containing 1
|
|
LRP2
|
low density lipoprotein receptor-related protein 2
|
|
LRPPRC
|
leucine-rich pentatricopeptide repeat containing
|
|
LTC4S
|
leukotriene C4 synthase
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAGEL2
|
melanoma antigen family L2
|
|
MAN1B1
|
mannosidase, alpha, class 1B, member 1
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MCCC1
|
methylcrotonoyl-CoA carboxylase 1 (alpha)
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MED17
|
mediator complex subunit 17
|
|
METTL23
|
methyltransferase like 23
|
|
MFSD8
|
major facilitator superfamily domain containing 8
|
|
MID1
|
midline 1
|
|
MID2
|
midline 2
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MLYCD
|
malonyl-CoA decarboxylase
|
|
MMAA
|
methylmalonic aciduria (cobalamin deficiency) cblA type
|
|
MMAB
|
methylmalonic aciduria (cobalamin deficiency) cblB type
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
MMADHC
|
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
|
|
MNX1
|
motor neuron and pancreas homeobox 1
|
|
MOGS
|
mannosyl-oligosaccharide glucosidase
|
|
MPC1
|
mitochondrial pyruvate carrier 1
|
|
MPLKIP
|
M-phase specific PLK1 interacting protein
|
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
|
MRPL3
|
mitochondrial ribosomal protein L3
|
|
MTFMT
|
mitochondrial methionyl-tRNA formyltransferase
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MTO1
|
mitochondrial tRNA translation optimization 1
|
|
MTR
|
5-methyltetrahydrofolate-homocysteine methyltransferase
|
|
MTRR
|
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
|
|
MUT
|
methylmalonyl CoA mutase
|
|
MVK
|
mevalonate kinase
|
|
MYO5A
|
myosin VA (heavy chain 12, myoxin)
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
NALCN
|
sodium leak channel, non selective
|
|
NAT8L
|
N-acetyltransferase 8-like (GCN5-related, putative)
|
|
NDE1
|
nudE neurodevelopment protein 1
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NDUFA1
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
|
|
NDUFA10
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
|
|
NDUFA11
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
|
|
NDUFA12
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
|
|
NDUFA2
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
|
|
NDUFA9
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
|
|
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
|
|
NDUFAF6
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
|
|
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)
|
|
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
|
|
NECAP1
|
NECAP endocytosis associated 1
|
|
NF1
|
neurofibromin 1
|
|
NFKB2
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
|
|
NFU1
|
NFU1 iron-sulfur cluster scaffold
|
|
NGLY1
|
N-glycanase 1
|
|
NIN
|
ninein (GSK3B interacting protein)
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NPC2
|
Niemann-Pick disease, type C2
|
|
NR2F1
|
nuclear receptor subfamily 2, group F, member 1
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
NTRK1
|
neurotrophic tyrosine kinase, receptor, type 1
|
|
NTRK2
|
neurotrophic tyrosine kinase, receptor, type 2
|
|
NUBPL
|
nucleotide binding protein-like
|
|
OCLN
|
occludin
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OPHN1
|
oligophrenin 1
|
|
OTC
|
ornithine carbamoyltransferase
|
|
OTX2
|
orthodenticle homeobox 2
|
|
P3H1
|
prolyl 3-hydroxylase 1
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PANK2
|
pantothenate kinase 2
|
|
PC
|
pyruvate carboxylase
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PCDH19
|
protocadherin 19
|
|
PCK1
|
phosphoenolpyruvate carboxykinase 1 (soluble)
|
|
PCNA
|
proliferating cell nuclear antigen
|
|
PCNT
|
pericentrin
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PDHA1
|
pyruvate dehydrogenase (lipoamide) alpha 1
|
|
PDHX
|
pyruvate dehydrogenase complex, component X
|
|
PDP1
|
pyruvate dehyrogenase phosphatase catalytic subunit 1
|
|
PEPD
|
peptidase D
|
|
PET100
|
PET100 homolog (S. cerevisiae)
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX10
|
peroxisomal biogenesis factor 10
|
|
PEX12
|
peroxisomal biogenesis factor 12
|
|
PEX13
|
peroxisomal biogenesis factor 13
|
|
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
|
|
PEX6
|
peroxisomal biogenesis factor 6
|
|
PGAP1
|
post-GPI attachment to proteins 1
|
|
PGAP2
|
post-GPI attachment to proteins 2
|
|
PGAP3
|
post-GPI attachment to proteins 3
|
|
PGK1
|
phosphoglycerate kinase 1
|
|
PGM3
|
phosphoglucomutase 3
|
|
PIGN
|
phosphatidylinositol glycan anchor biosynthesis, class N
|
|
PIGT
|
phosphatidylinositol glycan anchor biosynthesis, class T
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3R2
|
phosphoinositide-3-kinase, regulatory subunit 2 (beta)
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLOD3
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
|
|
PLP1
|
proteolipid protein 1
|
|
PMM2
|
phosphomannomutase 2
|
|
POC1A
|
POC1 centriolar protein A
|
|
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
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PRF1
|
perforin 1 (pore forming protein)
|
|
PROC
|
protein C (inactivator of coagulation factors Va and VIIIa)
|
|
PRODH
|
proline dehydrogenase (oxidase) 1
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PSAP
|
prosaposin
|
|
PSAT1
|
phosphoserine aminotransferase 1
|
|
PSPH
|
phosphoserine phosphatase
|
|
PTCH1
|
patched 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTS
|
6-pyruvoyltetrahydropterin synthase
|
|
PUF60
|
poly-U binding splicing factor 60KDa
|
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
|
QARS
|
glutaminyl-tRNA synthetase
|
|
QDPR
|
quinoid dihydropteridine reductase
|
|
RAB39B
|
RAB39B, member RAS oncogene family
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RAI1
|
retinoic acid induced 1
|
|
RARS2
|
arginyl-tRNA synthetase 2, mitochondrial
|
|
RBBP8
|
retinoblastoma binding protein 8
|
|
RBM10
|
RNA binding motif protein 10
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
RET
|
ret proto-oncogene
|
|
RFT1
|
RFT1 homolog (S. cerevisiae)
|
|
RNASEH2A
|
ribonuclease H2, subunit A
|
|
RNASEH2C
|
ribonuclease H2, subunit C
|
|
RNASET2
|
ribonuclease T2
|
|
RNF168
|
ring finger protein 168, E3 ubiquitin protein ligase
|
|
ROGDI
|
rogdi homolog (Drosophila)
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RPIA
|
ribose 5-phosphate isomerase A
|
|
RPL35A
|
ribosomal protein L35a
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
SAMHD1
|
SAM domain and HD domain 1
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN2A
|
sodium channel, voltage gated, type II alpha subunit
|
|
SCN8A
|
sodium channel, voltage gated, type VIII alpha subunit
|
|
SCO2
|
SCO2 cytochrome c oxidase assembly protein
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SEPSECS
|
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
|
|
SERAC1
|
serine active site containing 1
|
|
SERPINA7
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
|
|
SETD5
|
SET domain containing 5
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SIX3
|
SIX homeobox 3
|
|
SKI
|
SKI proto-oncogene
|
|
SLC12A1
|
solute carrier family 12 (sodium/potassium/chloride transporter), member 1
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC25A1
|
solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
|
|
SLC25A12
|
solute carrier family 25 (aspartate/glutamate carrier), member 12
|
|
SLC25A15
|
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC2A2
|
solute carrier family 2 (facilitated glucose transporter), member 2
|
|
SLC33A1
|
solute carrier family 33 (acetyl-CoA transporter), member 1
|
|
SLC35A2
|
solute carrier family 35 (UDP-galactose transporter), member A2
|
|
SLC35A3
|
solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
|
|
SLC46A1
|
solute carrier family 46 (folate transporter), member 1
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
SNIP1
|
Smad nuclear interacting protein 1
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOBP
|
sine oculis binding protein homolog (Drosophila)
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
SPG20
|
spastic paraplegia 20 (Troyer syndrome)
|
|
SPINK5
|
serine peptidase inhibitor, Kazal type 5
|
|
SPR
|
sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
|
|
SPTBN2
|
spectrin, beta, non-erythrocytic 2
|
|
ST3GAL3
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
|
|
ST3GAL5
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
|
|
STAMBP
|
STAM binding protein
|
|
STRADA
|
STE20-related kinase adaptor alpha
|
|
STT3A
|
STT3A, subunit of the oligosaccharyltransferase complex (catalytic)
|
|
STT3B
|
STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
|
|
STX11
|
syntaxin 11
|
|
STXBP1
|
syntaxin binding protein 1
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
SUCLG1
|
succinate-CoA ligase, alpha subunit
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
SUOX
|
sulfite oxidase
|
|
SURF1
|
surfeit 1
|
|
SYNGAP1
|
synaptic Ras GTPase activating protein 1
|
|
SZT2
|
seizure threshold 2 homolog (mouse)
|
|
TACO1
|
translational activator of mitochondrially encoded cytochrome c oxidase I
|
|
TAF2
|
TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa
|
|
TARS2
|
threonyl-tRNA synthetase 2, mitochondrial (putative)
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBC1D7
|
TBC1 domain family, member 7
|
|
TBX1
|
T-box 1
|
|
TCF12
|
transcription factor 12
|
|
TECPR2
|
tectonin beta-propeller repeat containing 2
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
THOC6
|
THO complex 6
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TMEM165
|
transmembrane protein 165
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM67
|
transmembrane protein 67
|
|
TMEM70
|
transmembrane protein 70
|
|
TNFRSF11A
|
tumor necrosis factor receptor superfamily, member 11a, NFKB activator
|
|
TPI1
|
triosephosphate isomerase 1
|
|
TPK1
|
thiamin pyrophosphokinase 1
|
|
TRAPPC11
|
trafficking protein particle complex 11
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TRIM32
|
tripartite motif containing 32
|
|
TSEN54
|
TSEN54 tRNA splicing endonuclease subunit
|
|
TSFM
|
Ts translation elongation factor, mitochondrial
|
|
TTC19
|
tetratricopeptide repeat domain 19
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TTI2
|
TELO2 interacting protein 2
|
|
TUBA8
|
tubulin, alpha 8
|
|
TUBB
|
tubulin, beta class I
|
|
TUBB2A
|
tubulin, beta 2A class IIa
|
|
TUBB2B
|
tubulin, beta 2B class IIb
|
|
TUBB3
|
tubulin, beta 3 class III
|
|
TUBG1
|
tubulin, gamma 1
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UMPS
|
uridine monophosphate synthetase
|
|
UQCC2
|
ubiquinol-cytochrome c reductase complex assembly factor 2
|
|
UQCRQ
|
ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa
|
|
USP9X
|
ubiquitin specific peptidase 9, X-linked
|
|
VARS2
|
valyl-tRNA synthetase 2, mitochondrial
|
|
VAX1
|
ventral anterior homeobox 1
|
|
VIPAS39
|
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
|
|
VLDLR
|
very low density lipoprotein receptor
|
|
VPS33B
|
vacuolar protein sorting 33 homolog B (yeast)
|
|
VPS37A
|
vacuolar protein sorting 37 homolog A (S. cerevisiae)
|
|
VPS45
|
vacuolar protein sorting 45 homolog (S. cerevisiae)
|
|
VPS53
|
vacuolar protein sorting 53 homolog (S. cerevisiae)
|
|
VRK1
|
vaccinia related kinase 1
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR45
|
WD repeat domain 45
|
|
WDR62
|
WD repeat domain 62
|
|
WDR81
|
WD repeat domain 81
|
|
WNT1
|
wingless-type MMTV integration site family, member 1
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
WWOX
|
WW domain containing oxidoreductase
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
|
ZDHHC15
|
zinc finger, DHHC-type containing 15
|
|
ZIC2
|
Zic family member 2
|
|
ZNF335
|
zinc finger protein 335
|
|
ZNF592
|
zinc finger protein 592
|
