| Symbol |
Name |
|
ACADM
|
acyl-CoA dehydrogenase, C-4 to C-12 straight chain
|
|
ACADS
|
acyl-CoA dehydrogenase, C-2 to C-3 short chain
|
|
AGXT
|
alanine-glyoxylate aminotransferase
|
|
ALDOB
|
aldolase B, fructose-bisphosphate
|
|
AUH
|
AU RNA binding protein/enoyl-CoA hydratase
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BTD
|
biotinidase
|
|
CA5A
|
carbonic anhydrase VA, mitochondrial
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CUL3
|
cullin 3
|
|
DLD
|
dihydrolipoamide dehydrogenase
|
|
DPYS
|
dihydropyrimidinase
|
|
EHHADH
|
enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
|
|
FBP1
|
fructose-1,6-bisphosphatase 1
|
|
FH
|
fumarate hydratase
|
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
|
GCDH
|
glutaryl-CoA dehydrogenase
|
|
GFM1
|
G elongation factor, mitochondrial 1
|
|
GK
|
glycerol kinase
|
|
GLYCTK
|
glycerate kinase
|
|
GSS
|
glutathione synthetase
|
|
HLCS
|
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
|
|
HMGCL
|
3-hydroxymethyl-3-methylglutaryl-CoA lyase
|
|
HPD
|
4-hydroxyphenylpyruvate dioxygenase
|
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
|
IBA57
|
IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
|
|
INVS
|
inversin
|
|
IVD
|
isovaleryl-CoA dehydrogenase
|
|
KCNJ5
|
potassium channel, inwardly rectifying subfamily J, member 5
|
|
LCT
|
lactase
|
|
MCCC1
|
methylcrotonoyl-CoA carboxylase 1 (alpha)
|
|
MCEE
|
methylmalonyl CoA epimerase
|
|
MLYCD
|
malonyl-CoA decarboxylase
|
|
MMAA
|
methylmalonic aciduria (cobalamin deficiency) cblA type
|
|
MMAB
|
methylmalonic aciduria (cobalamin deficiency) cblB type
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
MRPS22
|
mitochondrial ribosomal protein S22
|
|
MTO1
|
mitochondrial tRNA translation optimization 1
|
|
MUT
|
methylmalonyl CoA mutase
|
|
NR3C2
|
nuclear receptor subfamily 3, group C, member 2
|
|
OGDH
|
oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PDHX
|
pyruvate dehydrogenase complex, component X
|
|
PNPO
|
pyridoxamine 5'-phosphate oxidase
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
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
|
|
SLC25A3
|
solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3
|
|
SLC37A4
|
solute carrier family 37 (glucose-6-phosphate transporter), member 4
|
|
SLC4A1
|
solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
|
|
SLC5A1
|
solute carrier family 5 (sodium/glucose cotransporter), member 1
|
|
TUFM
|
Tu translation elongation factor, mitochondrial
|
|
UQCC2
|
ubiquinol-cytochrome c reductase complex assembly factor 2
|
|
UQCRB
|
ubiquinol-cytochrome c reductase binding protein
|
|
UQCRC2
|
ubiquinol-cytochrome c reductase core protein II
|
|
VIPAS39
|
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
|
|
VPS33B
|
vacuolar protein sorting 33 homolog B (yeast)
|
|
VTI1A
|
vesicle transport through interaction with t-SNAREs 1A
|
|
WNK1
|
WNK lysine deficient protein kinase 1
|
