| Symbol |
Name |
|
AASS
|
aminoadipate-semialdehyde synthase
|
|
ABCA1
|
ATP-binding cassette, sub-family A (ABC1), member 1
|
|
ABCB7
|
ATP-binding cassette, sub-family B (MDR/TAP), member 7
|
|
ABCD4
|
ATP-binding cassette, sub-family D (ALD), member 4
|
|
ABCG5
|
ATP-binding cassette, sub-family G (WHITE), member 5
|
|
ABCG8
|
ATP-binding cassette, sub-family G (WHITE), member 8
|
|
ACAD8
|
acyl-CoA dehydrogenase family, member 8
|
|
ACSL4
|
acyl-CoA synthetase long-chain family member 4
|
|
ACTN1
|
actinin, alpha 1
|
|
ACVR1
|
activin A receptor, type I
|
|
ACVRL1
|
activin A receptor type II-like 1
|
|
ADA
|
adenosine deaminase
|
|
ADAMTS13
|
ADAM metallopeptidase with thrombospondin type 1 motif, 13
|
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
AGGF1
|
angiogenic factor with G patch and FHA domains 1
|
|
AIRE
|
autoimmune regulator
|
|
AK1
|
adenylate kinase 1
|
|
AK2
|
adenylate kinase 2
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALAD
|
aminolevulinate dehydratase
|
|
ALAS2
|
5'-aminolevulinate synthase 2
|
|
ALDOA
|
aldolase A, fructose-bisphosphate
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
AMMECR1
|
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
|
|
AMN
|
amnion associated transmembrane protein
|
|
ANK1
|
ankyrin 1, erythrocytic
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
APOA1
|
apolipoprotein A-I
|
|
APOB
|
apolipoprotein B
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
ATR
|
ATR serine/threonine kinase
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
BCL11A
|
B-cell CLL/lymphoma 11A (zinc finger protein)
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
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
|
|
BTK
|
Bruton agammaglobulinemia tyrosine kinase
|
|
C15ORF41
|
chromosome 15 open reading frame 41
|
|
C1GALT1C1
|
C1GALT1-specific chaperone 1
|
|
CA2
|
carbonic anhydrase II
|
|
CALR
|
calreticulin
|
|
CASP10
|
caspase 10, apoptosis-related cysteine peptidase
|
|
CASR
|
calcium-sensing receptor
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CD151
|
CD151 molecule (Raph blood group)
|
|
CD19
|
CD19 molecule
|
|
CD27
|
CD27 molecule
|
|
CD3D
|
CD3d molecule, delta (CD3-TCR complex)
|
|
CD3E
|
CD3e molecule, epsilon (CD3-TCR complex)
|
|
CD3G
|
CD3g molecule, gamma (CD3-TCR complex)
|
|
CD40LG
|
CD40 ligand
|
|
CD59
|
CD59 molecule, complement regulatory protein
|
|
CD81
|
CD81 molecule
|
|
CDAN1
|
codanin 1
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
COA5
|
cytochrome c oxidase assembly factor 5
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
CORO1A
|
coronin, actin binding protein, 1A
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX14
|
COX14 cytochrome c oxidase assembly factor
|
|
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)
|
|
CP
|
ceruloplasmin (ferroxidase)
|
|
CPOX
|
coproporphyrinogen oxidase
|
|
CR2
|
complement component (3d/Epstein Barr virus) receptor 2
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTSK
|
cathepsin K
|
|
CUBN
|
cubilin (intrinsic factor-cobalamin receptor)
|
|
CXCR4
|
chemokine (C-X-C motif) receptor 4
|
|
CYB5A
|
cytochrome b5 type A (microsomal)
|
|
CYB5R3
|
cytochrome b5 reductase 3
|
|
CYP4F22
|
cytochrome P450, family 4, subfamily F, polypeptide 22
|
|
DCLRE1C
|
DNA cross-link repair 1C
|
|
DGKE
|
diacylglycerol kinase, epsilon 64kDa
|
|
DHFR
|
dihydrofolate reductase
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DNAJC19
|
DnaJ (Hsp40) homolog, subfamily C, member 19
|
|
DNMT3B
|
DNA (cytosine-5-)-methyltransferase 3 beta
|
|
DST
|
dystonin
|
|
EGLN1
|
egl-9 family hypoxia-inducible factor 1
|
|
ELANE
|
elastase, neutrophil expressed
|
|
ENG
|
endoglin
|
|
EPAS1
|
endothelial PAS domain protein 1
|
|
EPB41
|
erythrocyte membrane protein band 4.1
|
|
EPB42
|
erythrocyte membrane protein band 4.2
|
|
EPCAM
|
epithelial cell adhesion molecule
|
|
EPOR
|
erythropoietin receptor
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC6L2
|
excision repair cross-complementation group 6-like 2
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
EWSR1
|
EWS RNA-binding protein 1
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
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
|
|
FARS2
|
phenylalanyl-tRNA synthetase 2, mitochondrial
|
|
FAS
|
Fas cell surface death receptor
|
|
FASLG
|
Fas ligand (TNF superfamily, member 6)
|
|
FASTKD2
|
FAST kinase domains 2
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FECH
|
ferrochelatase
|
|
FERMT1
|
fermitin family member 1
|
|
FERMT3
|
fermitin family member 3
|
|
FH
|
fumarate hydratase
|
|
FMO3
|
flavin containing monooxygenase 3
|
|
FOXP3
|
forkhead box P3
|
|
FTCD
|
formimidoyltransferase cyclodeaminase
|
|
G6PC3
|
glucose 6 phosphatase, catalytic, 3
|
|
G6PD
|
glucose-6-phosphate dehydrogenase
|
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GATA2
|
GATA binding protein 2
|
|
GBA
|
glucosidase, beta, acid
|
|
GCLC
|
glutamate-cysteine ligase, catalytic subunit
|
|
GCNT2
|
glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
|
|
GDF2
|
growth differentiation factor 2
|
|
GFI1
|
growth factor independent 1 transcription repressor
|
|
GFI1B
|
growth factor independent 1B transcription repressor
|
|
GIF
|
gastric intrinsic factor (vitamin B synthesis)
|
|
GLA
|
galactosidase, alpha
|
|
GLRX5
|
glutaredoxin 5
|
|
GP1BA
|
glycoprotein Ib (platelet), alpha polypeptide
|
|
GPI
|
glucose-6-phosphate isomerase
|
|
GPX1
|
glutathione peroxidase 1
|
|
GSR
|
glutathione reductase
|
|
GSS
|
glutathione synthetase
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HBB
|
hemoglobin, beta
|
|
HBD
|
hemoglobin, delta
|
|
HBG1
|
hemoglobin, gamma A
|
|
HBG2
|
hemoglobin, gamma G
|
|
HBZ
|
hemoglobin, zeta
|
|
HK1
|
hexokinase 1
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HMOX1
|
heme oxygenase 1
|
|
HOXA11
|
homeobox A11
|
|
HPGD
|
hydroxyprostaglandin dehydrogenase 15-(NAD)
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
ICOS
|
inducible T-cell co-stimulator
|
|
IDH1
|
isocitrate dehydrogenase 1 (NADP+), soluble
|
|
IDH2
|
isocitrate dehydrogenase 2 (NADP+), mitochondrial
|
|
IFT140
|
intraflagellar transport 140
|
|
IGHV4-34
|
immunoglobulin heavy variable 4-34
|
|
IL12B
|
interleukin 12B
|
|
IL2RG
|
interleukin 2 receptor, gamma
|
|
IL7R
|
interleukin 7 receptor
|
|
IRX5
|
iroquois homeobox 5
|
|
ISCU
|
iron-sulfur cluster assembly enzyme
|
|
ITGA2B
|
integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
|
|
ITGB3
|
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
|
|
ITGB4
|
integrin, beta 4
|
|
ITK
|
IL2-inducible T-cell kinase
|
|
IVD
|
isovaleryl-CoA dehydrogenase
|
|
JAK2
|
Janus kinase 2
|
|
KCNE5
|
potassium channel, voltage gated subfamily E regulatory beta subunit 5
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KLF1
|
Kruppel-like factor 1 (erythroid)
|
|
KLLN
|
killin, p53-regulated DNA replication inhibitor
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT14
|
keratin 14, type I
|
|
LBR
|
lamin B receptor
|
|
LCAT
|
lecithin-cholesterol acyltransferase
|
|
LCRB
|
locus control region, beta
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LIPA
|
lipase A, lysosomal acid, cholesterol esterase
|
|
LMBRD1
|
LMBR1 domain containing 1
|
|
LMNB2
|
lamin B2
|
|
LPIN2
|
lipin 2
|
|
LRBA
|
LPS-responsive vesicle trafficking, beach and anchor containing
|
|
LRRFIP2
|
leucine rich repeat (in FLII) interacting protein 2
|
|
LYRM7
|
LYR motif containing 7
|
|
LYST
|
lysosomal trafficking regulator
|
|
MLH1
|
mutL homolog 1
|
|
MLH3
|
mutL homolog 3
|
|
MLX
|
MLX, MAX dimerization protein
|
|
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
|
|
MMP1
|
matrix metallopeptidase 1
|
|
MPL
|
MPL proto-oncogene, thrombopoietin receptor
|
|
MS4A1
|
membrane-spanning 4-domains, subfamily A, member 1
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MTR
|
5-methyltetrahydrofolate-homocysteine methyltransferase
|
|
MTRR
|
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
|
|
MTTP
|
microsomal triglyceride transfer protein
|
|
MUC1
|
mucin 1, cell surface associated
|
|
MUT
|
methylmalonyl CoA mutase
|
|
MVK
|
mevalonate kinase
|
|
MYD88
|
myeloid differentiation primary response 88
|
|
NBEAL2
|
neurobeachin-like 2
|
|
NBN
|
nibrin
|
|
NFKB2
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
|
|
NHEJ1
|
nonhomologous end-joining factor 1
|
|
NHP2
|
NHP2 ribonucleoprotein
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NME1
|
NME/NM23 nucleoside diphosphate kinase 1
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NPHP4
|
nephronophthisis 4
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
NT5C3A
|
5'-nucleotidase, cytosolic IIIA
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PANK2
|
pantothenate kinase 2
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PCNT
|
pericentrin
|
|
PDGFRA
|
platelet-derived growth factor receptor, alpha polypeptide
|
|
PEPD
|
peptidase D
|
|
PET100
|
PET100 homolog (S. cerevisiae)
|
|
PFKM
|
phosphofructokinase, muscle
|
|
PGK1
|
phosphoglycerate kinase 1
|
|
PGM3
|
phosphoglucomutase 3
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PIEZO1
|
piezo-type mechanosensitive ion channel component 1
|
|
PIGT
|
phosphatidylinositol glycan anchor biosynthesis, class T
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PKLR
|
pyruvate kinase, liver and RBC
|
|
PLEC
|
plectin
|
|
PMS1
|
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
PNP
|
purine nucleoside phosphorylase
|
|
PNPO
|
pyridoxamine 5'-phosphate oxidase
|
|
PRF1
|
perforin 1 (pore forming protein)
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRKCD
|
protein kinase C, delta
|
|
PSAP
|
prosaposin
|
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
|
PSTPIP1
|
proline-serine-threonine phosphatase interacting protein 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
PUS1
|
pseudouridylate synthase 1
|
|
RAB27A
|
RAB27A, member RAS oncogene family
|
|
RAB40AL
|
RAB40A, member RAS oncogene family-like
|
|
RAD51C
|
RAD51 paralog C
|
|
RAG1
|
recombination activating gene 1
|
|
RAG2
|
recombination activating gene 2
|
|
RARA
|
retinoic acid receptor, alpha
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RECQL4
|
RecQ protein-like 4
|
|
REN
|
renin
|
|
RHAG
|
Rh-associated glycoprotein
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RNASEH2A
|
ribonuclease H2, subunit A
|
|
RPL11
|
ribosomal protein L11
|
|
RPL15
|
ribosomal protein L15
|
|
RPL26
|
ribosomal protein L26
|
|
RPL35A
|
ribosomal protein L35a
|
|
RPL5
|
ribosomal protein L5
|
|
RPS10
|
ribosomal protein S10
|
|
RPS14
|
ribosomal protein S14
|
|
RPS17
|
ribosomal protein S17
|
|
RPS19
|
ribosomal protein S19
|
|
RPS24
|
ribosomal protein S24
|
|
RPS26
|
ribosomal protein S26
|
|
RPS29
|
ribosomal protein S29
|
|
RPS7
|
ribosomal protein S7
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
SARS2
|
seryl-tRNA synthetase 2, mitochondrial
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SC5D
|
sterol-C5-desaturase
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
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
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SEC23B
|
Sec23 homolog B (S. cerevisiae)
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SFXN4
|
sideroflexin 4
|
|
SH2B3
|
SH2B adaptor protein 3
|
|
SH2D1A
|
SH2 domain containing 1A
|
|
SLC11A2
|
solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC25A38
|
solute carrier family 25, member 38
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC30A10
|
solute carrier family 30, member 10
|
|
SLC46A1
|
solute carrier family 46 (folate transporter), member 1
|
|
SLC4A1
|
solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
|
|
SLC4A4
|
solute carrier family 4 (sodium bicarbonate cotransporter), member 4
|
|
SLC7A7
|
solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
|
|
SLCO2A1
|
solute carrier organic anion transporter family, member 2A1
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SNX10
|
sorting nexin 10
|
|
SPTA1
|
spectrin, alpha, erythrocytic 1
|
|
SPTB
|
spectrin, beta, erythrocytic
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
SRP72
|
signal recognition particle 72kDa
|
|
STEAP3
|
STEAP family member 3, metalloreductase
|
|
STIM1
|
stromal interaction molecule 1
|
|
STK11
|
serine/threonine kinase 11
|
|
STK4
|
serine/threonine kinase 4
|
|
STOM
|
stomatin
|
|
STX11
|
syntaxin 11
|
|
TACO1
|
translational activator of mitochondrially encoded cytochrome c oxidase I
|
|
TBCE
|
tubulin folding cofactor E
|
|
TBXAS1
|
thromboxane A synthase 1 (platelet)
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TCN2
|
transcobalamin II
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TET2
|
tet methylcytosine dioxygenase 2
|
|
TF
|
transferrin
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TMEM173
|
transmembrane protein 173
|
|
TMEM67
|
transmembrane protein 67
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TMPRSS6
|
transmembrane protease, serine 6
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TNFRSF11A
|
tumor necrosis factor receptor superfamily, member 11a, NFKB activator
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TNFRSF13B
|
tumor necrosis factor receptor superfamily, member 13B
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TNFRSF13C
|
tumor necrosis factor receptor superfamily, member 13C
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TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
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TNFSF12
|
tumor necrosis factor (ligand) superfamily, member 12
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TP53
|
tumor protein p53
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TPI1
|
triosephosphate isomerase 1
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TREX1
|
three prime repair exonuclease 1
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UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
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UMPS
|
uridine monophosphate synthetase
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UNC119
|
unc-119 homolog (C. elegans)
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UNC13D
|
unc-13 homolog D (C. elegans)
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UROD
|
uroporphyrinogen decarboxylase
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UROS
|
uroporphyrinogen III synthase
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USB1
|
U6 snRNA biogenesis 1
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VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
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VIPAS39
|
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
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VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
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VPS33B
|
vacuolar protein sorting 33 homolog B (yeast)
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VPS45
|
vacuolar protein sorting 45 homolog (S. cerevisiae)
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WAS
|
Wiskott-Aldrich syndrome
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WDR19
|
WD repeat domain 19
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WFS1
|
Wolfram syndrome 1 (wolframin)
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WIPF1
|
WAS/WASL interacting protein family, member 1
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WRAP53
|
WD repeat containing, antisense to TP53
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WT1
|
Wilms tumor 1
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XIAP
|
X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
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XK
|
X-linked Kx blood group
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YARS2
|
tyrosyl-tRNA synthetase 2, mitochondrial
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ZBTB20
|
zinc finger and BTB domain containing 20
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ZBTB24
|
zinc finger and BTB domain containing 24
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