| Symbol |
Name |
|
ADAMTS13
|
ADAM metallopeptidase with thrombospondin type 1 motif, 13
|
|
ALDOB
|
aldolase B, fructose-bisphosphate
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ARG1
|
arginase 1
|
|
ASL
|
argininosuccinate lyase
|
|
ASS1
|
argininosuccinate synthase 1
|
|
ATPAF2
|
ATP synthase mitochondrial F1 complex assembly factor 2
|
|
BTD
|
biotinidase
|
|
CA5A
|
carbonic anhydrase VA, mitochondrial
|
|
CLDN16
|
claudin 16
|
|
COL4A3
|
collagen, type IV, alpha 3 (Goodpasture antigen)
|
|
CPS1
|
carbamoyl-phosphate synthase 1, mitochondrial
|
|
CPT1A
|
carnitine palmitoyltransferase 1A (liver)
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CYC1
|
cytochrome c-1
|
|
FAN1
|
FANCD2/FANCI-associated nuclease 1
|
|
G6PC
|
glucose-6-phosphatase, catalytic subunit
|
|
GLUD1
|
glutamate dehydrogenase 1
|
|
GLUL
|
glutamate-ammonia ligase
|
|
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
|
|
HLCS
|
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
|
|
HMGCL
|
3-hydroxymethyl-3-methylglutaryl-CoA lyase
|
|
HNF1B
|
HNF1 homeobox B
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
IKBKAP
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
|
INVS
|
inversin
|
|
MCCC1
|
methylcrotonoyl-CoA carboxylase 1 (alpha)
|
|
MCCC2
|
methylcrotonoyl-CoA carboxylase 2 (beta)
|
|
MMAA
|
methylmalonic aciduria (cobalamin deficiency) cblA type
|
|
MMAB
|
methylmalonic aciduria (cobalamin deficiency) cblB type
|
|
MUC1
|
mucin 1, cell surface associated
|
|
MUT
|
methylmalonyl CoA mutase
|
|
NAGS
|
N-acetylglutamate synthase
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OTC
|
ornithine carbamoyltransferase
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PFKM
|
phosphofructokinase, muscle
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PPP1R3A
|
protein phosphatase 1, regulatory subunit 3A
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
REN
|
renin
|
|
SARS2
|
seryl-tRNA synthetase 2, mitochondrial
|
|
SERAC1
|
serine active site containing 1
|
|
SLC22A5
|
solute carrier family 22 (organic cation/carnitine transporter), member 5
|
|
SLC25A13
|
solute carrier family 25 (aspartate/glutamate carrier), member 13
|
|
SLC25A15
|
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
|
|
SLC25A20
|
solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
|
|
SLC37A4
|
solute carrier family 37 (glucose-6-phosphate transporter), member 4
|
|
SLC7A7
|
solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
|
|
TMEM70
|
transmembrane protein 70
|
|
TNFRSF11B
|
tumor necrosis factor receptor superfamily, member 11b
|
|
TUFM
|
Tu translation elongation factor, mitochondrial
|
|
UMOD
|
uromodulin
|
|
UQCRC2
|
ubiquinol-cytochrome c reductase core protein II
|
|
WDR19
|
WD repeat domain 19
|
