| Symbol |
Name |
|
AASS
|
aminoadipate-semialdehyde synthase
|
|
ABCC2
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 2
|
|
ABCD4
|
ATP-binding cassette, sub-family D (ALD), member 4
|
|
ACAD9
|
acyl-CoA dehydrogenase family, member 9
|
|
ACADM
|
acyl-CoA dehydrogenase, C-4 to C-12 straight chain
|
|
ACADS
|
acyl-CoA dehydrogenase, C-2 to C-3 short chain
|
|
ACADVL
|
acyl-CoA dehydrogenase, very long chain
|
|
ACSF3
|
acyl-CoA synthetase family member 3
|
|
ACSL4
|
acyl-CoA synthetase long-chain family member 4
|
|
ACTN4
|
actinin, alpha 4
|
|
ACVRL1
|
activin A receptor type II-like 1
|
|
ADAMTS13
|
ADAM metallopeptidase with thrombospondin type 1 motif, 13
|
|
ADCK4
|
aarF domain containing kinase 4
|
|
AGGF1
|
angiogenic factor with G patch and FHA domains 1
|
|
AGK
|
acylglycerol kinase
|
|
AGXT
|
alanine-glyoxylate aminotransferase
|
|
ALDH4A1
|
aldehyde dehydrogenase 4 family, member A1
|
|
ALDOB
|
aldolase B, 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
|
|
AMT
|
aminomethyltransferase
|
|
AP2S1
|
adaptor-related protein complex 2, sigma 1 subunit
|
|
APOA1
|
apolipoprotein A-I
|
|
APOE
|
apolipoprotein E
|
|
APRT
|
adenine phosphoribosyltransferase
|
|
ARG1
|
arginase 1
|
|
ARHGDIA
|
Rho GDP dissociation inhibitor (GDI) alpha
|
|
ARSB
|
arylsulfatase B
|
|
ASL
|
argininosuccinate lyase
|
|
ATP5E
|
ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
ATPAF2
|
ATP synthase mitochondrial F1 complex assembly factor 2
|
|
AVPR2
|
arginine vasopressin receptor 2
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BSND
|
barttin CLCNK-type chloride channel accessory beta subunit
|
|
BTD
|
biotinidase
|
|
CAMKMT
|
calmodulin-lysine N-methyltransferase
|
|
CARD9
|
caspase recruitment domain family, member 9
|
|
CASR
|
calcium-sensing receptor
|
|
CBS
|
cystathionine-beta-synthase
|
|
CD2AP
|
CD2-associated protein
|
|
CD320
|
CD320 molecule
|
|
CD59
|
CD59 molecule, complement regulatory protein
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CFH
|
complement factor H
|
|
CFHR5
|
complement factor H-related 5
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CLCN5
|
chloride channel, voltage-sensitive 5
|
|
CLCNKA
|
chloride channel, voltage-sensitive Ka
|
|
CLCNKB
|
chloride channel, voltage-sensitive Kb
|
|
CLDN16
|
claudin 16
|
|
CLDN19
|
claudin 19
|
|
CLEC7A
|
C-type lectin domain family 7, member A
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COA5
|
cytochrome c oxidase assembly factor 5
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COL4A3
|
collagen, type IV, alpha 3 (Goodpasture antigen)
|
|
COL4A4
|
collagen, type IV, alpha 4
|
|
COL4A5
|
collagen, type IV, alpha 5
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
COQ6
|
coenzyme Q6 monooxygenase
|
|
COX1
|
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX14
|
COX14 cytochrome c oxidase assembly factor
|
|
COX2
|
|
|
COX20
|
COX20 cytochrome c oxidase assembly factor
|
|
COX3
|
|
|
COX6B1
|
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
|
|
CPS1
|
carbamoyl-phosphate synthase 1, mitochondrial
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CTH
|
cystathionine gamma-lyase
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CUBN
|
cubilin (intrinsic factor-cobalamin receptor)
|
|
CYP11A1
|
cytochrome P450, family 11, subfamily A, polypeptide 1
|
|
CYP11B2
|
cytochrome P450, family 11, subfamily B, polypeptide 2
|
|
CYP21A2
|
cytochrome P450, family 21, subfamily A, polypeptide 2
|
|
CYP24A1
|
cytochrome P450, family 24, subfamily A, polypeptide 1
|
|
CYP27B1
|
cytochrome P450, family 27, subfamily B, polypeptide 1
|
|
D2HGDH
|
D-2-hydroxyglutarate dehydrogenase
|
|
DGKE
|
diacylglycerol kinase, epsilon 64kDa
|
|
DGUOK
|
deoxyguanosine kinase
|
|
DHTKD1
|
dehydrogenase E1 and transketolase domain containing 1
|
|
DIS3L2
|
DIS3 like 3'-5' exoribonuclease 2
|
|
DLD
|
dihydrolipoamide dehydrogenase
|
|
DNAJC19
|
DnaJ (Hsp40) homolog, subfamily C, member 19
|
|
DNASE1L3
|
deoxyribonuclease I-like 3
|
|
EHHADH
|
enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
|
|
ELN
|
elastin
|
|
ENG
|
endoglin
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
ETFA
|
electron-transfer-flavoprotein, alpha polypeptide
|
|
ETFB
|
electron-transfer-flavoprotein, beta polypeptide
|
|
ETFDH
|
electron-transferring-flavoprotein dehydrogenase
|
|
ETHE1
|
ethylmalonic encephalopathy 1
|
|
FAH
|
fumarylacetoacetate hydrolase (fumarylacetoacetase)
|
|
FAN1
|
FANCD2/FANCI-associated nuclease 1
|
|
FARS2
|
phenylalanyl-tRNA synthetase 2, mitochondrial
|
|
FASTKD2
|
FAST kinase domains 2
|
|
FGA
|
fibrinogen alpha chain
|
|
FGF23
|
fibroblast growth factor 23
|
|
FH
|
fumarate hydratase
|
|
FKRP
|
fukutin related protein
|
|
FMO3
|
flavin containing monooxygenase 3
|
|
FN1
|
fibronectin 1
|
|
FOXC2
|
forkhead box C2
|
|
FTCD
|
formimidoyltransferase cyclodeaminase
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
FXYD2
|
FXYD domain containing ion transport regulator 2
|
|
G6PC
|
glucose-6-phosphatase, catalytic subunit
|
|
GALE
|
UDP-galactose-4-epimerase
|
|
GALNS
|
galactosamine (N-acetyl)-6-sulfatase
|
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GATA3
|
GATA binding protein 3
|
|
GATA6
|
GATA binding protein 6
|
|
GATM
|
glycine amidinotransferase (L-arginine:glycine amidinotransferase)
|
|
GBA
|
glucosidase, beta, acid
|
|
GCDH
|
glutaryl-CoA dehydrogenase
|
|
GCSH
|
glycine cleavage system protein H (aminomethyl carrier)
|
|
GDF2
|
growth differentiation factor 2
|
|
GLA
|
galactosidase, alpha
|
|
GLB1
|
galactosidase, beta 1
|
|
GLDC
|
glycine dehydrogenase (decarboxylating)
|
|
GLYCTK
|
glycerate kinase
|
|
GNA11
|
guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
|
|
GNAS
|
GNAS complex locus
|
|
GNAS-AS1
|
GNAS antisense RNA 1
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
|
GRHPR
|
glyoxylate reductase/hydroxypyruvate reductase
|
|
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
|
|
HBB
|
hemoglobin, beta
|
|
HCFC1
|
host cell factor C1
|
|
HGD
|
homogentisate 1,2-dioxygenase
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
HIBCH
|
3-hydroxyisobutyryl-CoA hydrolase
|
|
HLA-DPB1
|
major histocompatibility complex, class II, DP beta 1
|
|
HLCS
|
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
HMGCL
|
3-hydroxymethyl-3-methylglutaryl-CoA lyase
|
|
HMOX1
|
heme oxygenase 1
|
|
HNF1B
|
HNF1 homeobox B
|
|
HOGA1
|
4-hydroxy-2-oxoglutarate aldolase 1
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HYAL1
|
hyaluronoglucosaminidase 1
|
|
IDH2
|
isocitrate dehydrogenase 2 (NADP+), mitochondrial
|
|
IDS
|
iduronate 2-sulfatase
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFT122
|
intraflagellar transport 122
|
|
IL17F
|
interleukin 17F
|
|
IL17RA
|
interleukin 17 receptor A
|
|
INF2
|
inverted formin, FH2 and WH2 domain containing
|
|
INPPL1
|
inositol polyphosphate phosphatase-like 1
|
|
INSR
|
insulin receptor
|
|
ISCU
|
iron-sulfur cluster assembly enzyme
|
|
ITGA8
|
integrin, alpha 8
|
|
IVD
|
isovaleryl-CoA dehydrogenase
|
|
KCNE5
|
potassium channel, voltage gated subfamily E regulatory beta subunit 5
|
|
KCNJ1
|
potassium channel, inwardly rectifying subfamily J, member 1
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
KCNJ5
|
potassium channel, inwardly rectifying subfamily J, member 5
|
|
KIF1B
|
kinesin family member 1B
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LAMB2
|
laminin, beta 2 (laminin S)
|
|
LCAT
|
lecithin-cholesterol acyltransferase
|
|
LDHA
|
lactate dehydrogenase A
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMBRD1
|
LMBR1 domain containing 1
|
|
LMNB2
|
lamin B2
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
LPIN1
|
lipin 1
|
|
LPIN2
|
lipin 2
|
|
LRP2
|
low density lipoprotein receptor-related protein 2
|
|
LYZ
|
lysozyme
|
|
MAFB
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
|
|
MCCC1
|
methylcrotonoyl-CoA carboxylase 1 (alpha)
|
|
MCCC2
|
methylcrotonoyl-CoA carboxylase 2 (beta)
|
|
MCEE
|
methylmalonyl CoA epimerase
|
|
MEFV
|
Mediterranean fever
|
|
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
|
|
MOCS1
|
molybdenum cofactor synthesis 1
|
|
MOCS2
|
molybdenum cofactor synthesis 2
|
|
MPC1
|
mitochondrial pyruvate carrier 1
|
|
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-TK
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MTR
|
5-methyltetrahydrofolate-homocysteine methyltransferase
|
|
MTRR
|
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
|
|
MUC1
|
mucin 1, cell surface associated
|
|
MUT
|
methylmalonyl CoA mutase
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
MYO1E
|
myosin IE
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
NAGLU
|
N-acetylglucosaminidase, alpha
|
|
ND1
|
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NME1
|
NME/NM23 nucleoside diphosphate kinase 1
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NPHS1
|
nephrosis 1, congenital, Finnish type (nephrin)
|
|
NPHS2
|
nephrosis 2, idiopathic, steroid-resistant (podocin)
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
NR3C1
|
nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
|
|
NT5C3A
|
5'-nucleotidase, cytosolic IIIA
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OTC
|
ornithine carbamoyltransferase
|
|
OXCT1
|
3-oxoacid CoA transferase 1
|
|
PAH
|
phenylalanine hydroxylase
|
|
PAPSS2
|
3'-phosphoadenosine 5'-phosphosulfate synthase 2
|
|
PAX2
|
paired box 2
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PDSS2
|
prenyl (decaprenyl) diphosphate synthase, subunit 2
|
|
PET100
|
PET100 homolog (S. cerevisiae)
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PFKM
|
phosphofructokinase, muscle
|
|
PGAM2
|
phosphoglycerate mutase 2 (muscle)
|
|
PGK1
|
phosphoglycerate kinase 1
|
|
PHEX
|
phosphate regulating endopeptidase homolog, X-linked
|
|
PHKA1
|
phosphorylase kinase, alpha 1 (muscle)
|
|
PIEZO1
|
piezo-type mechanosensitive ion channel component 1
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PIGT
|
phosphatidylinositol glycan anchor biosynthesis, class T
|
|
PLCE1
|
phospholipase C, epsilon 1
|
|
PLOD2
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
|
|
PMM2
|
phosphomannomutase 2
|
|
PNP
|
purine nucleoside phosphorylase
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POU6F2
|
POU class 6 homeobox 2
|
|
PPM1B
|
protein phosphatase, Mg2+/Mn2+ dependent, 1B
|
|
PREPL
|
prolyl endopeptidase-like
|
|
PRODH
|
proline dehydrogenase (oxidase) 1
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRTN3
|
proteinase 3
|
|
PSTPIP1
|
proline-serine-threonine phosphatase interacting protein 1
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
PTPN3
|
protein tyrosine phosphatase, non-receptor type 3
|
|
PTPRO
|
protein tyrosine phosphatase, receptor type, O
|
|
PYGM
|
phosphorylase, glycogen, muscle
|
|
RAB40AL
|
RAB40A, member RAS oncogene family-like
|
|
RET
|
ret proto-oncogene
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SARS2
|
seryl-tRNA synthetase 2, mitochondrial
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SCNN1A
|
sodium channel, non voltage gated 1 alpha subunit
|
|
SCNN1B
|
sodium channel, non voltage gated 1 beta subunit
|
|
SCNN1G
|
sodium channel, non voltage gated 1 gamma subunit
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SERAC1
|
serine active site containing 1
|
|
SGSH
|
N-sulfoglucosamine sulfohydrolase
|
|
SLC12A1
|
solute carrier family 12 (sodium/potassium/chloride transporter), member 1
|
|
SLC12A3
|
solute carrier family 12 (sodium/chloride transporter), member 3
|
|
SLC16A12
|
solute carrier family 16, member 12
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC1A1
|
solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
|
|
SLC22A12
|
solute carrier family 22 (organic anion/urate transporter), member 12
|
|
SLC25A20
|
solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
|
|
SLC2A2
|
solute carrier family 2 (facilitated glucose transporter), member 2
|
|
SLC2A9
|
solute carrier family 2 (facilitated glucose transporter), member 9
|
|
SLC34A1
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
|
|
SLC34A3
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
|
|
SLC36A2
|
solute carrier family 36 (proton/amino acid symporter), member 2
|
|
SLC37A4
|
solute carrier family 37 (glucose-6-phosphate transporter), member 4
|
|
SLC3A1
|
solute carrier family 3 (amino acid transporter heavy chain), member 1
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC5A1
|
solute carrier family 5 (sodium/glucose cotransporter), member 1
|
|
SLC5A2
|
solute carrier family 5 (sodium/glucose cotransporter), member 2
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SLC6A20
|
solute carrier family 6 (proline IMINO transporter), member 20
|
|
SLC7A9
|
solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
|
|
SLC9A3R1
|
solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
|
|
SLITRK6
|
SLIT and NTRK-like family, member 6
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
SPINK5
|
serine peptidase inhibitor, Kazal type 5
|
|
SQSTM1
|
sequestosome 1
|
|
STAR
|
steroidogenic acute regulatory protein
|
|
STAT1
|
signal transducer and activator of transcription 1, 91kDa
|
|
STX16
|
syntaxin 16
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
SUCLG1
|
succinate-CoA ligase, alpha subunit
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
SUOX
|
sulfite oxidase
|
|
TACO1
|
translational activator of mitochondrially encoded cytochrome c oxidase I
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TAT
|
tyrosine aminotransferase
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TBL2
|
transducin (beta)-like 2
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TCN2
|
transcobalamin II
|
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TK2
|
thymidine kinase 2, mitochondrial
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TMEM70
|
transmembrane protein 70
|
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TNFRSF11A
|
tumor necrosis factor receptor superfamily, member 11a, NFKB activator
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TNFRSF11B
|
tumor necrosis factor receptor superfamily, member 11b
|
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TRAF3IP2
|
TRAF3 interacting protein 2
|
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TREX1
|
three prime repair exonuclease 1
|
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TRNE
|
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TRPC6
|
transient receptor potential cation channel, subfamily C, member 6
|
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TSC1
|
tuberous sclerosis 1
|
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TSC2
|
tuberous sclerosis 2
|
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UMPS
|
uridine monophosphate synthetase
|
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UROS
|
uroporphyrinogen III synthase
|
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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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WDR19
|
WD repeat domain 19
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WT1
|
Wilms tumor 1
|
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YAP1
|
Yes-associated protein 1
|
