| Symbol |
Name |
|
ABCB6
|
ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
|
|
APOPT1
|
apoptogenic 1, mitochondrial
|
|
ASL
|
argininosuccinate lyase
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
CASR
|
calcium-sensing receptor
|
|
CLCN5
|
chloride channel, voltage-sensitive 5
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX14
|
COX14 cytochrome c oxidase assembly factor
|
|
COX20
|
COX20 cytochrome c oxidase assembly factor
|
|
COX6B1
|
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
|
|
COX8A
|
cytochrome c oxidase subunit VIIIA (ubiquitous)
|
|
CPS1
|
carbamoyl-phosphate synthase 1, mitochondrial
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
DDB2
|
damage-specific DNA binding protein 2, 48kDa
|
|
EHHADH
|
enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC3
|
excision repair cross-complementation group 3
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC5
|
excision repair cross-complementation group 5
|
|
FASTKD2
|
FAST kinase domains 2
|
|
FH
|
fumarate hydratase
|
|
FTCD
|
formimidoyltransferase cyclodeaminase
|
|
GALE
|
UDP-galactose-4-epimerase
|
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
|
GCLC
|
glutamate-cysteine ligase, catalytic subunit
|
|
GLYCTK
|
glycerate kinase
|
|
GPT
|
glutamic-pyruvate transaminase (alanine aminotransferase)
|
|
GRHPR
|
glyoxylate reductase/hydroxypyruvate reductase
|
|
HGD
|
homogentisate 1,2-dioxygenase
|
|
HIBCH
|
3-hydroxyisobutyryl-CoA hydrolase
|
|
HNF1A
|
HNF1 homeobox A
|
|
HNF4A
|
hepatocyte nuclear factor 4, alpha
|
|
KMT2B
|
lysine (K)-specific methyltransferase 2B
|
|
KYNU
|
kynureninase
|
|
LMNA
|
lamin A/C
|
|
LYZ
|
lysozyme
|
|
MARS1
|
methionyl-tRNA synthetase 1
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
OAT
|
ornithine aminotransferase
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OTC
|
ornithine carbamoyltransferase
|
|
PET100
|
PET100 homolog (S. cerevisiae)
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PTH
|
parathyroid hormone
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
SCO1
|
SCO1 cytochrome c oxidase assembly protein
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC1A1
|
solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
|
|
SLC35A1
|
solute carrier family 35 (CMP-sialic acid transporter), member A1
|
|
SLC5A2
|
solute carrier family 5 (sodium/glucose cotransporter), member 2
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SLC7A7
|
solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
|
|
SPINK5
|
serine peptidase inhibitor, Kazal type 5
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
TACO1
|
translational activator of mitochondrially encoded cytochrome c oxidase I
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TMEM27
|
transmembrane protein 27
|
|
TP53
|
tumor protein p53
|
|
UMPS
|
uridine monophosphate synthetase
|
|
XPA
|
xeroderma pigmentosum, complementation group A
|
|
XPC
|
xeroderma pigmentosum, complementation group C
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
