| Symbol |
Name |
|
A2ML1
|
alpha-2-macroglobulin-like 1
|
|
ABCA1
|
ATP-binding cassette, sub-family A (ABC1), member 1
|
|
ABCB11
|
ATP-binding cassette, sub-family B (MDR/TAP), member 11
|
|
ABCB4
|
ATP-binding cassette, sub-family B (MDR/TAP), member 4
|
|
ABCC2
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 2
|
|
ABCD3
|
ATP-binding cassette, sub-family D (ALD), member 3
|
|
ABCG5
|
ATP-binding cassette, sub-family G (WHITE), member 5
|
|
ABCG8
|
ATP-binding cassette, sub-family G (WHITE), member 8
|
|
ABHD5
|
abhydrolase domain containing 5
|
|
ACAD9
|
acyl-CoA dehydrogenase family, member 9
|
|
ACADM
|
acyl-CoA dehydrogenase, C-4 to C-12 straight chain
|
|
ACADVL
|
acyl-CoA dehydrogenase, very long chain
|
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
|
ACVRL1
|
activin A receptor type II-like 1
|
|
ADA
|
adenosine deaminase
|
|
ADAMTS13
|
ADAM metallopeptidase with thrombospondin type 1 motif, 13
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
ADK
|
adenosine kinase
|
|
AGA
|
aspartylglucosaminidase
|
|
AGGF1
|
angiogenic factor with G patch and FHA domains 1
|
|
AGL
|
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AIRE
|
autoimmune regulator
|
|
AKR1D1
|
aldo-keto reductase family 1, member D1
|
|
AKT2
|
v-akt murine thymoma viral oncogene homolog 2
|
|
ALAS2
|
5'-aminolevulinate synthase 2
|
|
ALDH7A1
|
aldehyde dehydrogenase 7 family, member A1
|
|
ALDOA
|
aldolase A, fructose-bisphosphate
|
|
ALDOB
|
aldolase B, fructose-bisphosphate
|
|
ALG1
|
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
|
|
ALG13
|
ALG13, UDP-N-acetylglucosaminyltransferase subunit
|
|
ALG6
|
ALG6, alpha-1,3-glucosyltransferase
|
|
ALG8
|
ALG8, alpha-1,3-glucosyltransferase
|
|
ALG9
|
ALG9, alpha-1,2-mannosyltransferase
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
AMACR
|
alpha-methylacyl-CoA racemase
|
|
ANK1
|
ankyrin 1, erythrocytic
|
|
ANKS6
|
ankyrin repeat and sterile alpha motif domain containing 6
|
|
AP1S1
|
adaptor-related protein complex 1, sigma 1 subunit
|
|
AP3B1
|
adaptor-related protein complex 3, beta 1 subunit
|
|
APC
|
adenomatous polyposis coli
|
|
APOA1
|
apolipoprotein A-I
|
|
APOC2
|
apolipoprotein C-II
|
|
APOE
|
apolipoprotein E
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARSA
|
arylsulfatase A
|
|
ARSB
|
arylsulfatase B
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ASL
|
argininosuccinate lyase
|
|
ASS1
|
argininosuccinate synthase 1
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
ATP8B1
|
ATPase, aminophospholipid transporter, class I, type 8B, member 1
|
|
ATPAF2
|
ATP synthase mitochondrial F1 complex assembly factor 2
|
|
AUH
|
AU RNA binding protein/enoyl-CoA hydratase
|
|
AXIN1
|
axin 1
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B9D1
|
B9 protein domain 1
|
|
B9D2
|
B9 protein domain 2
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BBIP1
|
BBSome interacting protein 1
|
|
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
|
|
BCL11A
|
B-cell CLL/lymphoma 11A (zinc finger protein)
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BLNK
|
B-cell linker
|
|
BLVRA
|
biliverdin reductase A
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
BOLA3
|
bolA family member 3
|
|
BPGM
|
2,3-bisphosphoglycerate mutase
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
BTD
|
biotinidase
|
|
BTK
|
Bruton agammaglobulinemia tyrosine kinase
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C15ORF41
|
chromosome 15 open reading frame 41
|
|
C1S
|
complement component 1, s subcomponent
|
|
CA2
|
carbonic anhydrase II
|
|
CARD11
|
caspase recruitment domain family, member 11
|
|
CARD9
|
caspase recruitment domain family, member 9
|
|
CASP10
|
caspase 10, apoptosis-related cysteine peptidase
|
|
CASP8
|
caspase 8, apoptosis-related cysteine peptidase
|
|
CASR
|
calcium-sensing receptor
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CBS
|
cystathionine-beta-synthase
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CD19
|
CD19 molecule
|
|
CD27
|
CD27 molecule
|
|
CD40LG
|
CD40 ligand
|
|
CD79A
|
CD79a molecule, immunoglobulin-associated alpha
|
|
CD79B
|
CD79b molecule, immunoglobulin-associated beta
|
|
CD81
|
CD81 molecule
|
|
CD96
|
CD96 molecule
|
|
CDAN1
|
codanin 1
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CEP164
|
centrosomal protein 164kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP83
|
centrosomal protein 83kDa
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CIDEC
|
cell death-inducing DFFA-like effector c
|
|
CIITA
|
class II, major histocompatibility complex, transactivator
|
|
CIRH1A
|
cirrhosis, autosomal recessive 1A (cirhin)
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CLDN1
|
claudin 1
|
|
CLEC7A
|
C-type lectin domain family 7, member A
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COA5
|
cytochrome c oxidase assembly factor 5
|
|
COG4
|
component of oligomeric golgi complex 4
|
|
COG6
|
component of oligomeric golgi complex 6
|
|
COG8
|
component of oligomeric golgi complex 8
|
|
COMT
|
catechol-O-methyltransferase
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
COX1
|
|
|
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)
|
|
COX2
|
|
|
COX20
|
COX20 cytochrome c oxidase assembly factor
|
|
COX3
|
|
|
COX4I2
|
cytochrome c oxidase subunit IV isoform 2 (lung)
|
|
COX6B1
|
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
|
|
CPOX
|
coproporphyrinogen oxidase
|
|
CPT1A
|
carnitine palmitoyltransferase 1A (liver)
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CR2
|
complement component (3d/Epstein Barr virus) receptor 2
|
|
CSF3R
|
colony stimulating factor 3 receptor (granulocyte)
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CTSA
|
cathepsin A
|
|
CTSC
|
cathepsin C
|
|
CTSK
|
cathepsin K
|
|
CYBA
|
cytochrome b-245, alpha polypeptide
|
|
CYBB
|
cytochrome b-245, beta polypeptide
|
|
CYC1
|
cytochrome c-1
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
DCLRE1C
|
DNA cross-link repair 1C
|
|
DCTN4
|
dynactin 4 (p62)
|
|
DDOST
|
dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
|
|
DGUOK
|
deoxyguanosine kinase
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DHFR
|
dihydrofolate reductase
|
|
DIS3L2
|
DIS3 like 3'-5' exoribonuclease 2
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DLD
|
dihydrolipoamide dehydrogenase
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DNAJC19
|
DnaJ (Hsp40) homolog, subfamily C, member 19
|
|
DNASE1L3
|
deoxyribonuclease I-like 3
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
DOLK
|
dolichol kinase
|
|
DPAGT1
|
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
|
|
DPM1
|
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
|
|
DPM3
|
dolichyl-phosphate mannosyltransferase polypeptide 3
|
|
DUOX2
|
dual oxidase 2
|
|
DUOXA2
|
dual oxidase maturation factor 2
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
EARS2
|
glutamyl-tRNA synthetase 2, mitochondrial
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
ELN
|
elastin
|
|
ENG
|
endoglin
|
|
EOGT
|
EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
|
|
EPCAM
|
epithelial cell adhesion molecule
|
|
EPM2A
|
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
ETFA
|
electron-transfer-flavoprotein, alpha polypeptide
|
|
ETFB
|
electron-transfer-flavoprotein, beta polypeptide
|
|
ETFDH
|
electron-transferring-flavoprotein dehydrogenase
|
|
EWSR1
|
EWS RNA-binding protein 1
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
FADD
|
Fas (TNFRSF6)-associated via death domain
|
|
FAH
|
fumarylacetoacetate hydrolase (fumarylacetoacetase)
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FAN1
|
FANCD2/FANCI-associated nuclease 1
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCB
|
Fanconi anemia, complementation group B
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FANCE
|
Fanconi anemia, complementation group E
|
|
FANCF
|
Fanconi anemia, complementation group F
|
|
FANCG
|
Fanconi anemia, complementation group G
|
|
FANCI
|
Fanconi anemia, complementation group I
|
|
FANCL
|
Fanconi anemia, complementation group L
|
|
FANCM
|
Fanconi anemia, complementation group M
|
|
FAS
|
Fas cell surface death receptor
|
|
FASLG
|
Fas ligand (TNF superfamily, member 6)
|
|
FASTKD2
|
FAST kinase domains 2
|
|
FBN1
|
fibrillin 1
|
|
FBP1
|
fructose-1,6-bisphosphatase 1
|
|
FBXL4
|
F-box and leucine-rich repeat protein 4
|
|
FECH
|
ferrochelatase
|
|
FERMT3
|
fermitin family member 3
|
|
FGA
|
fibrinogen alpha chain
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FH
|
fumarate hydratase
|
|
FOS
|
FBJ murine osteosarcoma viral oncogene homolog
|
|
FOXE1
|
forkhead box E1
|
|
FOXF1
|
forkhead box F1
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
G6PC
|
glucose-6-phosphatase, catalytic subunit
|
|
G6PC3
|
glucose 6 phosphatase, catalytic, 3
|
|
G6PD
|
glucose-6-phosphate dehydrogenase
|
|
GAA
|
glucosidase, alpha; acid
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GALE
|
UDP-galactose-4-epimerase
|
|
GALK1
|
galactokinase 1
|
|
GALNS
|
galactosamine (N-acetyl)-6-sulfatase
|
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
|
GATA2
|
GATA binding protein 2
|
|
GATA6
|
GATA binding protein 6
|
|
GBA
|
glucosidase, beta, acid
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GCDH
|
glutaryl-CoA dehydrogenase
|
|
GDF2
|
growth differentiation factor 2
|
|
GFM1
|
G elongation factor, mitochondrial 1
|
|
GLB1
|
galactosidase, beta 1
|
|
GLIS3
|
GLIS family zinc finger 3
|
|
GNAS
|
GNAS complex locus
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
GNMT
|
glycine N-methyltransferase
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GPD1
|
glycerol-3-phosphate dehydrogenase 1 (soluble)
|
|
GPI
|
glucose-6-phosphate isomerase
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
GUSB
|
glucuronidase, beta
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
HADH
|
hydroxyacyl-CoA dehydrogenase
|
|
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
|
|
HAMP
|
hepcidin antimicrobial peptide
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HBB
|
hemoglobin, beta
|
|
HBG1
|
hemoglobin, gamma A
|
|
HBG2
|
hemoglobin, gamma G
|
|
HESX1
|
HESX homeobox 1
|
|
HEXB
|
hexosaminidase B (beta polypeptide)
|
|
HFE
|
hemochromatosis
|
|
HFE2
|
hemochromatosis type 2 (juvenile)
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
HIRA
|
histone cell cycle regulator
|
|
HK1
|
hexokinase 1
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
HMGCL
|
3-hydroxymethyl-3-methylglutaryl-CoA lyase
|
|
HMOX1
|
heme oxygenase 1
|
|
HNF1A
|
HNF1 homeobox A
|
|
HNF1B
|
HNF1 homeobox B
|
|
HOXD13
|
homeobox D13
|
|
HPD
|
4-hydroxyphenylpyruvate dioxygenase
|
|
HPGD
|
hydroxyprostaglandin dehydrogenase 15-(NAD)
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HSD3B7
|
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
|
|
ICOS
|
inducible T-cell co-stimulator
|
|
IDS
|
iduronate 2-sulfatase
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IFT122
|
intraflagellar transport 122
|
|
IFT140
|
intraflagellar transport 140
|
|
IFT172
|
intraflagellar transport 172
|
|
IFT27
|
intraflagellar transport 27
|
|
IFT43
|
intraflagellar transport 43
|
|
IFT80
|
intraflagellar transport 80
|
|
IGF2R
|
insulin-like growth factor 2 receptor
|
|
IGHM
|
immunoglobulin heavy constant mu
|
|
IGHV4-34
|
immunoglobulin heavy variable 4-34
|
|
IGLL1
|
immunoglobulin lambda-like polypeptide 1
|
|
IL17F
|
interleukin 17F
|
|
IL17RA
|
interleukin 17 receptor A
|
|
IL1RN
|
interleukin 1 receptor antagonist
|
|
IL21R
|
interleukin 21 receptor
|
|
IL2RA
|
interleukin 2 receptor, alpha
|
|
IL2RG
|
interleukin 2 receptor, gamma
|
|
IL6
|
interleukin 6
|
|
IL7R
|
interleukin 7 receptor
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
INPPL1
|
inositol polyphosphate phosphatase-like 1
|
|
INSR
|
insulin receptor
|
|
INVS
|
inversin
|
|
IQCB1
|
IQ motif containing B1
|
|
ITCH
|
itchy E3 ubiquitin protein ligase
|
|
ITK
|
IL2-inducible T-cell kinase
|
|
IYD
|
iodotyrosine deiodinase
|
|
JAG1
|
jagged 1
|
|
JAK2
|
Janus kinase 2
|
|
JAM3
|
junctional adhesion molecule 3
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNQ1OT1
|
KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KLF1
|
Kruppel-like factor 1 (erythroid)
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRIT1
|
KRIT1, ankyrin repeat containing
|
|
KRT16
|
keratin 16, type I
|
|
KRT17
|
keratin 17, type I
|
|
KRT18
|
keratin 18, type I
|
|
KRT6A
|
keratin 6A, type II
|
|
KRT6B
|
keratin 6B, type II
|
|
KRT8
|
keratin 8, type II
|
|
LBR
|
lamin B receptor
|
|
LCAT
|
lecithin-cholesterol acyltransferase
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LHX1
|
LIM homeobox 1
|
|
LHX3
|
LIM homeobox 3
|
|
LHX4
|
LIM homeobox 4
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LIMK1
|
LIM domain kinase 1
|
|
LIPA
|
lipase A, lysosomal acid, cholesterol esterase
|
|
LIPE
|
lipase, hormone-sensitive
|
|
LMNA
|
lamin A/C
|
|
LMNB2
|
lamin B2
|
|
LPIN2
|
lipin 2
|
|
LPL
|
lipoprotein lipase
|
|
LRBA
|
LPS-responsive vesicle trafficking, beach and anchor containing
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LRPPRC
|
leucine-rich pentatricopeptide repeat containing
|
|
LRRC8A
|
leucine rich repeat containing 8 family, member A
|
|
LRRFIP2
|
leucine rich repeat (in FLII) interacting protein 2
|
|
LYRM4
|
LYR motif containing 4
|
|
LYST
|
lysosomal trafficking regulator
|
|
LYZ
|
lysozyme
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
MCCC1
|
methylcrotonoyl-CoA carboxylase 1 (alpha)
|
|
MCM4
|
minichromosome maintenance complex component 4
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MEFV
|
Mediterranean fever
|
|
MET
|
MET proto-oncogene, receptor tyrosine kinase
|
|
MIF
|
macrophage migration inhibitory factor (glycosylation-inhibiting factor)
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MLH1
|
mutL homolog 1
|
|
MLH3
|
mutL homolog 3
|
|
MMAA
|
methylmalonic aciduria (cobalamin deficiency) cblA type
|
|
MMAB
|
methylmalonic aciduria (cobalamin deficiency) cblB type
|
|
MOGS
|
mannosyl-oligosaccharide glucosidase
|
|
MPC1
|
mitochondrial pyruvate carrier 1
|
|
MPI
|
mannose phosphate isomerase
|
|
MPL
|
MPL proto-oncogene, thrombopoietin receptor
|
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
|
MRPL3
|
mitochondrial ribosomal protein L3
|
|
MRPL44
|
mitochondrial ribosomal protein L44
|
|
MRPS16
|
mitochondrial ribosomal protein S16
|
|
MS4A1
|
membrane-spanning 4-domains, subfamily A, member 1
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 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)
|
|
MT-TF
|
tRNA
|
|
MT-TH
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
MTM1
|
myotubularin 1
|
|
MUT
|
methylmalonyl CoA mutase
|
|
MVK
|
mevalonate kinase
|
|
MYD88
|
myeloid differentiation primary response 88
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
NAGLU
|
N-acetylglucosaminidase, alpha
|
|
NCF1
|
neutrophil cytosolic factor 1
|
|
NCF2
|
neutrophil cytosolic factor 2
|
|
NCF4
|
neutrophil cytosolic factor 4, 40kDa
|
|
ND1
|
|
|
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
|
|
NEK1
|
NIMA-related kinase 1
|
|
NEK8
|
NIMA-related kinase 8
|
|
NELFA
|
negative elongation factor complex member A
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NFKB2
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
|
|
NGLY1
|
N-glycanase 1
|
|
NHLRC1
|
NHL repeat containing E3 ubiquitin protein ligase 1
|
|
NHP2
|
NHP2 ribonucleoprotein
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
NOTCH1
|
notch 1
|
|
NOTCH2
|
notch 2
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NPC2
|
Niemann-Pick disease, type C2
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
NPHP4
|
nephronophthisis 4
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NUBPL
|
nucleotide binding protein-like
|
|
OCLN
|
occludin
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OTC
|
ornithine carbamoyltransferase
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PAX8
|
paired box 8
|
|
PC
|
pyruvate carboxylase
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PCK1
|
phosphoenolpyruvate carboxykinase 1 (soluble)
|
|
PCK2
|
phosphoenolpyruvate carboxykinase 2 (mitochondrial)
|
|
PDGFB
|
platelet-derived growth factor beta polypeptide
|
|
PDGFRA
|
platelet-derived growth factor receptor, alpha polypeptide
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PDGFRL
|
platelet-derived growth factor receptor-like
|
|
PEPD
|
peptidase D
|
|
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
|
|
PGM1
|
phosphoglucomutase 1
|
|
PHKA2
|
phosphorylase kinase, alpha 2 (liver)
|
|
PHKB
|
phosphorylase kinase, beta
|
|
PHKG2
|
phosphorylase kinase, gamma 2 (testis)
|
|
PIEZO1
|
piezo-type mechanosensitive ion channel component 1
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PIGM
|
phosphatidylinositol glycan anchor biosynthesis, class M
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PKD1
|
polycystic kidney disease 1 (autosomal dominant)
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
PKLR
|
pyruvate kinase, liver and RBC
|
|
PLIN1
|
perilipin 1
|
|
PMM2
|
phosphomannomutase 2
|
|
PMS1
|
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
PNPLA2
|
patatin-like phospholipase domain containing 2
|
|
POLD1
|
polymerase (DNA directed), delta 1, catalytic subunit
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLG2
|
polymerase (DNA directed), gamma 2, accessory subunit
|
|
POMC
|
proopiomelanocortin
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
POU1F1
|
POU class 1 homeobox 1
|
|
POU6F2
|
POU class 6 homeobox 2
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PPP1R3A
|
protein phosphatase 1, regulatory subunit 3A
|
|
PRDM16
|
PR domain containing 16
|
|
PRF1
|
perforin 1 (pore forming protein)
|
|
PRKCD
|
protein kinase C, delta
|
|
PRKCSH
|
protein kinase C substrate 80K-H
|
|
PROP1
|
PROP paired-like homeobox 1
|
|
PSAP
|
prosaposin
|
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
PTPN3
|
protein tyrosine phosphatase, non-receptor type 3
|
|
PTPRC
|
protein tyrosine phosphatase, receptor type, C
|
|
PTRF
|
polymerase I and transcript release factor
|
|
PYGL
|
phosphorylase, glycogen, liver
|
|
RAB27A
|
RAB27A, member RAS oncogene family
|
|
RAD51C
|
RAD51 paralog C
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RAG1
|
recombination activating gene 1
|
|
RAG2
|
recombination activating gene 2
|
|
RBCK1
|
RanBP-type and C3HC4-type zinc finger containing 1
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
RECQL4
|
RecQ protein-like 4
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RFT1
|
RFT1 homolog (S. cerevisiae)
|
|
RFX5
|
regulatory factor X, 5 (influences HLA class II expression)
|
|
RFX6
|
regulatory factor X, 6
|
|
RFXANK
|
regulatory factor X-associated ankyrin-containing protein
|
|
RFXAP
|
regulatory factor X-associated protein
|
|
RHAG
|
Rh-associated glycoprotein
|
|
RHBDF2
|
rhomboid 5 homolog 2 (Drosophila)
|
|
RIT1
|
Ras-like without CAAX 1
|
|
RMND1
|
required for meiotic nuclear division 1 homolog (S. cerevisiae)
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RNASEH2A
|
ribonuclease H2, subunit A
|
|
RNASEH2C
|
ribonuclease H2, subunit C
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SC5D
|
sterol-C5-desaturase
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SDCCAG8
|
serologically defined colon cancer antigen 8
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
|
SEC23B
|
Sec23 homolog B (S. cerevisiae)
|
|
SEC63
|
SEC63 homolog (S. cerevisiae)
|
|
SERPINA1
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
|
|
SETBP1
|
SET binding protein 1
|
|
SFTPA2
|
surfactant protein A2
|
|
SGSH
|
N-sulfoglucosamine sulfohydrolase
|
|
SH2D1A
|
SH2 domain containing 1A
|
|
SKI
|
SKI proto-oncogene
|
|
SKIV2L
|
superkiller viralicidic activity 2-like (S. cerevisiae)
|
|
SLC11A2
|
solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLC20A2
|
solute carrier family 20 (phosphate transporter), member 2
|
|
SLC22A5
|
solute carrier family 22 (organic cation/carnitine transporter), member 5
|
|
SLC25A1
|
solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
|
|
SLC25A13
|
solute carrier family 25 (aspartate/glutamate carrier), member 13
|
|
SLC25A15
|
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
|
|
SLC25A19
|
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
|
|
SLC25A20
|
solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
SLC30A10
|
solute carrier family 30, member 10
|
|
SLC37A4
|
solute carrier family 37 (glucose-6-phosphate transporter), member 4
|
|
SLC39A4
|
solute carrier family 39 (zinc transporter), member 4
|
|
SLC40A1
|
solute carrier family 40 (iron-regulated transporter), member 1
|
|
SLC4A1
|
solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
|
|
SLC5A5
|
solute carrier family 5 (sodium/iodide cotransporter), member 5
|
|
SLC7A7
|
solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
|
|
SLCO1B1
|
solute carrier organic anion transporter family, member 1B1
|
|
SLCO1B3
|
solute carrier organic anion transporter family, member 1B3
|
|
SLCO2A1
|
solute carrier organic anion transporter family, member 2A1
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMAD4
|
SMAD family member 4
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SNX10
|
sorting nexin 10
|
|
SOS1
|
son of sevenless homolog 1 (Drosophila)
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SP110
|
SP110 nuclear body protein
|
|
SPTB
|
spectrin, beta, erythrocytic
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
STAT1
|
signal transducer and activator of transcription 1, 91kDa
|
|
STEAP3
|
STEAP family member 3, metalloreductase
|
|
STK11
|
serine/threonine kinase 11
|
|
STT3B
|
STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
|
|
STX11
|
syntaxin 11
|
|
STX1A
|
syntaxin 1A (brain)
|
|
STXBP2
|
syntaxin binding protein 2
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
SURF1
|
surfeit 1
|
|
TACO1
|
translational activator of mitochondrially encoded cytochrome c oxidase I
|
|
TALDO1
|
transaldolase 1
|
|
TARS2
|
threonyl-tRNA synthetase 2, mitochondrial (putative)
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TCF3
|
transcription factor 3
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TCTN2
|
tectonic family member 2
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TET2
|
tet methylcytosine dioxygenase 2
|
|
TF
|
transferrin
|
|
TFR2
|
transferrin receptor 2
|
|
TG
|
thyroglobulin
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
THRA
|
thyroid hormone receptor, alpha
|
|
THRB
|
thyroid hormone receptor, beta
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TJP2
|
tight junction protein 2
|
|
TMEM165
|
transmembrane protein 165
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM67
|
transmembrane protein 67
|
|
TMEM70
|
transmembrane protein 70
|
|
TNFRSF13B
|
tumor necrosis factor receptor superfamily, member 13B
|
|
TNFRSF13C
|
tumor necrosis factor receptor superfamily, member 13C
|
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TNFSF12
|
tumor necrosis factor (ligand) superfamily, member 12
|
|
TP53
|
tumor protein p53
|
|
TPI1
|
triosephosphate isomerase 1
|
|
TPO
|
thyroid peroxidase
|
|
TRAF3IP2
|
TRAF3 interacting protein 2
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TRHR
|
thyrotropin-releasing hormone receptor
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRIM37
|
tripartite motif containing 37
|
|
TRMU
|
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TSFM
|
Ts translation elongation factor, mitochondrial
|
|
TSHB
|
thyroid stimulating hormone, beta
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
TTC21B
|
tetratricopeptide repeat domain 21B
|
|
TTC37
|
tetratricopeptide repeat domain 37
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TUFM
|
Tu translation elongation factor, mitochondrial
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
UGT1A1
|
UDP glucuronosyltransferase 1 family, polypeptide A1
|
|
UNC13D
|
unc-13 homolog D (C. elegans)
|
|
UROD
|
uroporphyrinogen decarboxylase
|
|
UROS
|
uroporphyrinogen III synthase
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VIPAS39
|
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
VPS33B
|
vacuolar protein sorting 33 homolog B (yeast)
|
|
VPS45
|
vacuolar protein sorting 45 homolog (S. cerevisiae)
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR19
|
WD repeat domain 19
|
|
WDR34
|
WD repeat domain 34
|
|
WDR35
|
WD repeat domain 35
|
|
WDR60
|
WD repeat domain 60
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
|
WRAP53
|
WD repeat containing, antisense to TP53
|
|
WT1
|
Wilms tumor 1
|
|
XIAP
|
X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
|
|
YARS2
|
tyrosyl-tRNA synthetase 2, mitochondrial
|
|
ZAP70
|
zeta-chain (TCR) associated protein kinase 70kDa
|
