| Symbol |
Name |
|
AASS
|
aminoadipate-semialdehyde synthase
|
|
ABCA1
|
ATP-binding cassette, sub-family A (ABC1), member 1
|
|
ABCC2
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 2
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ABHD5
|
abhydrolase domain containing 5
|
|
AGA
|
aspartylglucosaminidase
|
|
AGL
|
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
|
|
AGXT
|
alanine-glyoxylate aminotransferase
|
|
AHCY
|
adenosylhomocysteinase
|
|
ALAD
|
aminolevulinate dehydratase
|
|
ALAS2
|
5'-aminolevulinate synthase 2
|
|
ALDH5A1
|
aldehyde dehydrogenase 5 family, member A1
|
|
ALDOA
|
aldolase A, fructose-bisphosphate
|
|
ALDOB
|
aldolase B, fructose-bisphosphate
|
|
ALG1
|
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
|
|
ALG11
|
ALG11, alpha-1,2-mannosyltransferase
|
|
ALG12
|
ALG12, alpha-1,6-mannosyltransferase
|
|
ALG13
|
ALG13, UDP-N-acetylglucosaminyltransferase subunit
|
|
ALG2
|
ALG2, alpha-1,3/1,6-mannosyltransferase
|
|
ALG3
|
ALG3, alpha-1,3- mannosyltransferase
|
|
ALG6
|
ALG6, alpha-1,3-glucosyltransferase
|
|
ALG8
|
ALG8, alpha-1,3-glucosyltransferase
|
|
ALG9
|
ALG9, alpha-1,2-mannosyltransferase
|
|
AMT
|
aminomethyltransferase
|
|
ANGPTL3
|
angiopoietin-like 3
|
|
APOB
|
apolipoprotein B
|
|
APOC2
|
apolipoprotein C-II
|
|
APOE
|
apolipoprotein E
|
|
ARG1
|
arginase 1
|
|
ARSA
|
arylsulfatase A
|
|
ARSB
|
arylsulfatase B
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ASL
|
argininosuccinate lyase
|
|
ASS1
|
argininosuccinate synthase 1
|
|
ATP13A2
|
ATPase type 13A2
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B4GALT1
|
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
|
|
BCKDHA
|
branched chain keto acid dehydrogenase E1, alpha polypeptide
|
|
BCKDHB
|
branched chain keto acid dehydrogenase E1, beta polypeptide
|
|
BTD
|
biotinidase
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
CACNA1S
|
calcium channel, voltage-dependent, L type, alpha 1S subunit
|
|
CAT
|
catalase
|
|
CBS
|
cystathionine-beta-synthase
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
CLN5
|
ceroid-lipofuscinosis, neuronal 5
|
|
CLN6
|
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
|
|
CLN8
|
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
|
|
COG1
|
component of oligomeric golgi complex 1
|
|
COG4
|
component of oligomeric golgi complex 4
|
|
COG5
|
component of oligomeric golgi complex 5
|
|
COG6
|
component of oligomeric golgi complex 6
|
|
COG7
|
component of oligomeric golgi complex 7
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX15
|
cytochrome c oxidase assembly homolog 15 (yeast)
|
|
COX6B1
|
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
|
|
CPOX
|
coproporphyrinogen oxidase
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CTSD
|
cathepsin D
|
|
CTSF
|
cathepsin F
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
D2HGDH
|
D-2-hydroxyglutarate dehydrogenase
|
|
DBT
|
dihydrolipoamide branched chain transacylase E2
|
|
DDOST
|
dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DLAT
|
dihydrolipoamide S-acetyltransferase
|
|
DNA2
|
DNA replication helicase/nuclease 2
|
|
DNAJC5
|
DnaJ (Hsp40) homolog, subfamily C, member 5
|
|
DOLK
|
dolichol kinase
|
|
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
|
|
DPM3
|
dolichyl-phosphate mannosyltransferase polypeptide 3
|
|
DPYD
|
dihydropyrimidine dehydrogenase
|
|
ENO3
|
enolase 3 (beta, muscle)
|
|
ETFA
|
electron-transfer-flavoprotein, alpha polypeptide
|
|
ETFB
|
electron-transfer-flavoprotein, beta polypeptide
|
|
ETFDH
|
electron-transferring-flavoprotein dehydrogenase
|
|
FAH
|
fumarylacetoacetate hydrolase (fumarylacetoacetase)
|
|
FASTKD2
|
FAST kinase domains 2
|
|
FECH
|
ferrochelatase
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
G6PC
|
glucose-6-phosphatase, catalytic subunit
|
|
G6PD
|
glucose-6-phosphate dehydrogenase
|
|
GAA
|
glucosidase, alpha; acid
|
|
GALC
|
galactosylceramidase
|
|
GALE
|
UDP-galactose-4-epimerase
|
|
GALK1
|
galactokinase 1
|
|
GALNS
|
galactosamine (N-acetyl)-6-sulfatase
|
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
|
GATM
|
glycine amidinotransferase (L-arginine:glycine amidinotransferase)
|
|
GBA
|
glucosidase, beta, acid
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GCDH
|
glutaryl-CoA dehydrogenase
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GLA
|
galactosidase, alpha
|
|
GLB1
|
galactosidase, beta 1
|
|
GLDC
|
glycine dehydrogenase (decarboxylating)
|
|
GLUD1
|
glutamate dehydrogenase 1
|
|
GM2A
|
GM2 ganglioside activator
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
GNMT
|
glycine N-methyltransferase
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GNPTG
|
N-acetylglucosamine-1-phosphate transferase, gamma subunit
|
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
|
GRHPR
|
glyoxylate reductase/hydroxypyruvate reductase
|
|
GRN
|
granulin
|
|
GUSB
|
glucuronidase, beta
|
|
GYG1
|
glycogenin 1
|
|
GYS2
|
glycogen synthase 2 (liver)
|
|
HADH
|
hydroxyacyl-CoA dehydrogenase
|
|
HAL
|
histidine ammonia-lyase
|
|
HAMP
|
hepcidin antimicrobial peptide
|
|
HEXA
|
hexosaminidase A (alpha polypeptide)
|
|
HEXB
|
hexosaminidase B (beta polypeptide)
|
|
HFE
|
hemochromatosis
|
|
HFE2
|
hemochromatosis type 2 (juvenile)
|
|
HGD
|
homogentisate 1,2-dioxygenase
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
HLCS
|
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
HNF1A
|
HNF1 homeobox A
|
|
HNF4A
|
hepatocyte nuclear factor 4, alpha
|
|
HPD
|
4-hydroxyphenylpyruvate dioxygenase
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HYAL1
|
hyaluronoglucosaminidase 1
|
|
IDH2
|
isocitrate dehydrogenase 2 (NADP+), mitochondrial
|
|
IDS
|
iduronate 2-sulfatase
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IVD
|
isovaleryl-CoA dehydrogenase
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
L2HGDH
|
L-2-hydroxyglutarate dehydrogenase
|
|
LAMP2
|
lysosomal-associated membrane protein 2
|
|
LCAT
|
lecithin-cholesterol acyltransferase
|
|
LCT
|
lactase
|
|
LDHA
|
lactate dehydrogenase A
|
|
LDLRAP1
|
low density lipoprotein receptor adaptor protein 1
|
|
LIPA
|
lipase A, lysosomal acid, cholesterol esterase
|
|
LPL
|
lipoprotein lipase
|
|
LRPPRC
|
leucine-rich pentatricopeptide repeat containing
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
MANBA
|
mannosidase, beta A, lysosomal
|
|
MAT1A
|
methionine adenosyltransferase I, alpha
|
|
MCCC1
|
methylcrotonoyl-CoA carboxylase 1 (alpha)
|
|
MCCC2
|
methylcrotonoyl-CoA carboxylase 2 (beta)
|
|
MCEE
|
methylmalonyl CoA epimerase
|
|
MCM6
|
minichromosome maintenance complex component 6
|
|
MCOLN1
|
mucolipin 1
|
|
MFSD8
|
major facilitator superfamily domain containing 8
|
|
MGAT2
|
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
|
|
MGME1
|
mitochondrial genome maintenance exonuclease 1
|
|
MMAA
|
methylmalonic aciduria (cobalamin deficiency) cblA type
|
|
MMAB
|
methylmalonic aciduria (cobalamin deficiency) cblB type
|
|
MMADHC
|
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
|
|
MPDU1
|
mannose-P-dolichol utilization defect 1
|
|
MPI
|
mannose phosphate isomerase
|
|
MTFMT
|
mitochondrial methionyl-tRNA formyltransferase
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MTR
|
5-methyltetrahydrofolate-homocysteine methyltransferase
|
|
MTRR
|
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
|
|
MTTP
|
microsomal triglyceride transfer protein
|
|
MUT
|
methylmalonyl CoA mutase
|
|
MVK
|
mevalonate kinase
|
|
NAGLU
|
N-acetylglucosaminidase, alpha
|
|
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
|
|
NDUFA4
|
NDUFA4, mitochondrial complex associated
|
|
NDUFAF2
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
|
|
NDUFAF5
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
|
|
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)
|
|
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
|
|
NGLY1
|
N-glycanase 1
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NPC2
|
Niemann-Pick disease, type C2
|
|
NUS1
|
nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)
|
|
OTC
|
ornithine carbamoyltransferase
|
|
PAH
|
phenylalanine hydroxylase
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PCSK9
|
proprotein convertase subtilisin/kexin type 9
|
|
PDHA1
|
pyruvate dehydrogenase (lipoamide) alpha 1
|
|
PDHB
|
pyruvate dehydrogenase (lipoamide) beta
|
|
PDHX
|
pyruvate dehydrogenase complex, component X
|
|
PDP1
|
pyruvate dehyrogenase phosphatase catalytic subunit 1
|
|
PDSS2
|
prenyl (decaprenyl) diphosphate synthase, subunit 2
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX10
|
peroxisomal biogenesis factor 10
|
|
PEX11B
|
peroxisomal biogenesis factor 11 beta
|
|
PEX12
|
peroxisomal biogenesis factor 12
|
|
PEX13
|
peroxisomal biogenesis factor 13
|
|
PEX14
|
peroxisomal biogenesis factor 14
|
|
PEX16
|
peroxisomal biogenesis factor 16
|
|
PEX19
|
peroxisomal biogenesis factor 19
|
|
PEX2
|
peroxisomal biogenesis factor 2
|
|
PEX26
|
peroxisomal biogenesis factor 26
|
|
PEX3
|
peroxisomal biogenesis factor 3
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PEX6
|
peroxisomal biogenesis factor 6
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PFKM
|
phosphofructokinase, muscle
|
|
PGAM2
|
phosphoglycerate mutase 2 (muscle)
|
|
PGM1
|
phosphoglucomutase 1
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PHKA1
|
phosphorylase kinase, alpha 1 (muscle)
|
|
PHKA2
|
phosphorylase kinase, alpha 2 (liver)
|
|
PHKB
|
phosphorylase kinase, beta
|
|
PHKG2
|
phosphorylase kinase, gamma 2 (testis)
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PMM2
|
phosphomannomutase 2
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLG2
|
polymerase (DNA directed), gamma 2, accessory subunit
|
|
PPOX
|
protoporphyrinogen oxidase
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PRKAG2
|
protein kinase, AMP-activated, gamma 2 non-catalytic subunit
|
|
PRNP
|
prion protein
|
|
PSAP
|
prosaposin
|
|
PTS
|
6-pyruvoyltetrahydropterin synthase
|
|
PYGL
|
phosphorylase, glycogen, liver
|
|
PYGM
|
phosphorylase, glycogen, muscle
|
|
QDPR
|
quinoid dihydropteridine reductase
|
|
RFT1
|
RFT1 homolog (S. cerevisiae)
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SCO1
|
SCO1 cytochrome c oxidase assembly protein
|
|
SCO2
|
SCO2 cytochrome c oxidase assembly protein
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SERPINA1
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
|
|
SGSH
|
N-sulfoglucosamine sulfohydrolase
|
|
SLC16A1
|
solute carrier family 16 (monocarboxylate transporter), member 1
|
|
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
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
SLC35A1
|
solute carrier family 35 (CMP-sialic acid transporter), member A1
|
|
SLC35A2
|
solute carrier family 35 (UDP-galactose transporter), member A2
|
|
SLC35C1
|
solute carrier family 35 (GDP-fucose transporter), member C1
|
|
SLC37A4
|
solute carrier family 37 (glucose-6-phosphate transporter), member 4
|
|
SLC3A1
|
solute carrier family 3 (amino acid transporter heavy chain), member 1
|
|
SLC40A1
|
solute carrier family 40 (iron-regulated transporter), member 1
|
|
SLC7A9
|
solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
STT3A
|
STT3A, subunit of the oligosaccharyltransferase complex (catalytic)
|
|
STT3B
|
STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
|
|
SUGCT
|
succinyl-CoA:glutarate-CoA transferase
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
SURF1
|
surfeit 1
|
|
TACO1
|
translational activator of mitochondrially encoded cytochrome c oxidase I
|
|
TAT
|
tyrosine aminotransferase
|
|
TAZ
|
tafazzin
|
|
TFR2
|
transferrin receptor 2
|
|
TIMM8A
|
translocase of inner mitochondrial membrane 8 homolog A (yeast)
|
|
TMEM165
|
transmembrane protein 165
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TYMP
|
thymidine phosphorylase
|
|
UCP2
|
uncoupling protein 2 (mitochondrial, proton carrier)
|
|
UGT1A1
|
UDP glucuronosyltransferase 1 family, polypeptide A1
|
|
UROD
|
uroporphyrinogen decarboxylase
|
|
UROS
|
uroporphyrinogen III synthase
|
