| Symbol |
Name |
|
ACADM
|
acyl-CoA dehydrogenase, C-4 to C-12 straight chain
|
|
ACADVL
|
acyl-CoA dehydrogenase, very long chain
|
|
ACAT1
|
acetyl-CoA acetyltransferase 1
|
|
ACP2
|
acid phosphatase 2, lysosomal
|
|
ACSF3
|
acyl-CoA synthetase family member 3
|
|
ACTG2
|
actin, gamma 2, smooth muscle, enteric
|
|
AIMP1
|
aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
|
|
ALAD
|
aminolevulinate dehydratase
|
|
ALDOB
|
aldolase B, fructose-bisphosphate
|
|
ALG11
|
ALG11, alpha-1,2-mannosyltransferase
|
|
ALG3
|
ALG3, alpha-1,3- mannosyltransferase
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
AQP2
|
aquaporin 2 (collecting duct)
|
|
ARG1
|
arginase 1
|
|
ASL
|
argininosuccinate lyase
|
|
ASS1
|
argininosuccinate synthase 1
|
|
ATP6V0A4
|
ATPase, H+ transporting, lysosomal V0 subunit a4
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
AVPR2
|
arginine vasopressin receptor 2
|
|
BCKDHA
|
branched chain keto acid dehydrogenase E1, alpha polypeptide
|
|
BCKDHB
|
branched chain keto acid dehydrogenase E1, beta polypeptide
|
|
BOLA3
|
bolA family member 3
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BTD
|
biotinidase
|
|
CPOX
|
coproporphyrinogen oxidase
|
|
CPS1
|
carbamoyl-phosphate synthase 1, mitochondrial
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CYP11B2
|
cytochrome P450, family 11, subfamily B, polypeptide 2
|
|
CYP24A1
|
cytochrome P450, family 24, subfamily A, polypeptide 1
|
|
D2HGDH
|
D-2-hydroxyglutarate dehydrogenase
|
|
DBT
|
dihydrolipoamide branched chain transacylase E2
|
|
DGAT1
|
diacylglycerol O-acyltransferase 1
|
|
DGUOK
|
deoxyguanosine kinase
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
EDNRA
|
endothelin receptor type A
|
|
ETFA
|
electron-transfer-flavoprotein, alpha polypeptide
|
|
ETFB
|
electron-transfer-flavoprotein, beta polypeptide
|
|
ETFDH
|
electron-transferring-flavoprotein dehydrogenase
|
|
F12
|
coagulation factor XII (Hageman factor)
|
|
FLNA
|
filamin A, alpha
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
GALC
|
galactosylceramidase
|
|
GALE
|
UDP-galactose-4-epimerase
|
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
|
GK
|
glycerol kinase
|
|
GLA
|
galactosidase, alpha
|
|
HLCS
|
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
IKBKAP
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
|
IVD
|
isovaleryl-CoA dehydrogenase
|
|
KCNJ1
|
potassium channel, inwardly rectifying subfamily J, member 1
|
|
LIPA
|
lipase A, lysosomal acid, cholesterol esterase
|
|
LPL
|
lipoprotein lipase
|
|
MCCC1
|
methylcrotonoyl-CoA carboxylase 1 (alpha)
|
|
MLYCD
|
malonyl-CoA decarboxylase
|
|
MMAA
|
methylmalonic aciduria (cobalamin deficiency) cblA type
|
|
MMAB
|
methylmalonic aciduria (cobalamin deficiency) cblB type
|
|
MPI
|
mannose phosphate isomerase
|
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
|
MUT
|
methylmalonyl CoA mutase
|
|
MVK
|
mevalonate kinase
|
|
NAGS
|
N-acetylglutamate synthase
|
|
NDUFA1
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
|
|
NDUFA11
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
|
|
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
|
|
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)
|
|
NDUFV1
|
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
|
|
NDUFV2
|
NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
|
|
NEUROG3
|
neurogenin 3
|
|
NR3C2
|
nuclear receptor subfamily 3, group C, member 2
|
|
NUBPL
|
nucleotide binding protein-like
|
|
OPLAH
|
5-oxoprolinase (ATP-hydrolysing)
|
|
OTC
|
ornithine carbamoyltransferase
|
|
OXCT1
|
3-oxoacid CoA transferase 1
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PMM2
|
phosphomannomutase 2
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
PPOX
|
protoporphyrinogen oxidase
|
|
SAR1B
|
secretion associated, Ras related GTPase 1B
|
|
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
|
|
SERPING1
|
serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SLC12A1
|
solute carrier family 12 (sodium/potassium/chloride transporter), member 1
|
|
SLC22A5
|
solute carrier family 22 (organic cation/carnitine transporter), member 5
|
|
SLC25A15
|
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SLC7A7
|
solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
ST3GAL5
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
|
|
TCN2
|
transcobalamin II
|
|
TNF
|
tumor necrosis factor
|
|
TRMU
|
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
|
|
TYMP
|
thymidine phosphorylase
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
