| Symbol |
Name |
|
ABAT
|
4-aminobutyrate aminotransferase
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ABCD4
|
ATP-binding cassette, sub-family D (ALD), member 4
|
|
ACADM
|
acyl-CoA dehydrogenase, C-4 to C-12 straight chain
|
|
ACADS
|
acyl-CoA dehydrogenase, C-2 to C-3 short chain
|
|
ACADSB
|
acyl-CoA dehydrogenase, short/branched chain
|
|
ACADVL
|
acyl-CoA dehydrogenase, very long chain
|
|
ADAMTS13
|
ADAM metallopeptidase with thrombospondin type 1 motif, 13
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
ALDOB
|
aldolase B, fructose-bisphosphate
|
|
AMN
|
amnion associated transmembrane protein
|
|
AMT
|
aminomethyltransferase
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
ASL
|
argininosuccinate lyase
|
|
ASPA
|
aspartoacylase
|
|
ASS1
|
argininosuccinate synthase 1
|
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
AVP
|
arginine vasopressin
|
|
BCKDHA
|
branched chain keto acid dehydrogenase E1, alpha polypeptide
|
|
BCKDHB
|
branched chain keto acid dehydrogenase E1, beta polypeptide
|
|
BOLA3
|
bolA family member 3
|
|
BTD
|
biotinidase
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
CA5A
|
carbonic anhydrase VA, mitochondrial
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CASR
|
calcium-sensing receptor
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
COG6
|
component of oligomeric golgi complex 6
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CPOX
|
coproporphyrinogen oxidase
|
|
CPS1
|
carbamoyl-phosphate synthase 1, mitochondrial
|
|
CPT1A
|
carnitine palmitoyltransferase 1A (liver)
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CTSH
|
cathepsin H
|
|
CUBN
|
cubilin (intrinsic factor-cobalamin receptor)
|
|
CYP24A1
|
cytochrome P450, family 24, subfamily A, polypeptide 1
|
|
DBT
|
dihydrolipoamide branched chain transacylase E2
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DLD
|
dihydrolipoamide dehydrogenase
|
|
DNMT1
|
DNA (cytosine-5-)-methyltransferase 1
|
|
DPYD
|
dihydropyrimidine dehydrogenase
|
|
DPYS
|
dihydropyrimidinase
|
|
EIF2B1
|
eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
|
|
EIF2B2
|
eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
|
|
EIF2B3
|
eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
|
|
EIF2B4
|
eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
|
|
EIF2B5
|
eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
|
|
ETFA
|
electron-transfer-flavoprotein, alpha polypeptide
|
|
ETFB
|
electron-transfer-flavoprotein, beta polypeptide
|
|
ETFDH
|
electron-transferring-flavoprotein dehydrogenase
|
|
FBP1
|
fructose-1,6-bisphosphatase 1
|
|
FGF23
|
fibroblast growth factor 23
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FTL
|
ferritin, light polypeptide
|
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
|
GCDH
|
glutaryl-CoA dehydrogenase
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GCSH
|
glycine cleavage system protein H (aminomethyl carrier)
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GK
|
glycerol kinase
|
|
GLDC
|
glycine dehydrogenase (decarboxylating)
|
|
GLUD1
|
glutamate dehydrogenase 1
|
|
GNA11
|
guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
|
|
HADH
|
hydroxyacyl-CoA dehydrogenase
|
|
HCRT
|
hypocretin (orexin) neuropeptide precursor
|
|
HFE
|
hemochromatosis
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DQB1
|
major histocompatibility complex, class II, DQ beta 1
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HLCS
|
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
HMGCL
|
3-hydroxymethyl-3-methylglutaryl-CoA lyase
|
|
IL10
|
interleukin 10
|
|
IL12B
|
interleukin 12B
|
|
IL12RB2
|
interleukin 12 receptor, beta 2
|
|
IL23R
|
interleukin 23 receptor
|
|
INSR
|
insulin receptor
|
|
IVD
|
isovaleryl-CoA dehydrogenase
|
|
KCNQ2
|
potassium channel, voltage gated KQT-like subfamily Q, member 2
|
|
KCNQ3
|
potassium channel, voltage gated KQT-like subfamily Q, member 3
|
|
KRT18
|
keratin 18, type I
|
|
KRT8
|
keratin 8, type II
|
|
LIPA
|
lipase A, lysosomal acid, cholesterol esterase
|
|
LMBRD1
|
LMBR1 domain containing 1
|
|
LYRM7
|
LYR motif containing 7
|
|
MC2R
|
melanocortin 2 receptor (adrenocorticotropic hormone)
|
|
MCCC1
|
methylcrotonoyl-CoA carboxylase 1 (alpha)
|
|
MEFV
|
Mediterranean fever
|
|
MLX
|
MLX, MAX dimerization protein
|
|
MMAA
|
methylmalonic aciduria (cobalamin deficiency) cblA type
|
|
MMAB
|
methylmalonic aciduria (cobalamin deficiency) cblB type
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
MMADHC
|
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
|
|
MOG
|
myelin oligodendrocyte glycoprotein
|
|
MRPS16
|
mitochondrial ribosomal protein S16
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MT-TF
|
tRNA
|
|
MT-TH
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
MTRR
|
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
|
|
MUT
|
methylmalonyl CoA mutase
|
|
MYD88
|
myeloid differentiation primary response 88
|
|
NAGS
|
N-acetylglutamate synthase
|
|
ND1
|
|
|
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
|
|
NFU1
|
NFU1 iron-sulfur cluster scaffold
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOTCH3
|
notch 3
|
|
NUBPL
|
nucleotide binding protein-like
|
|
OTC
|
ornithine carbamoyltransferase
|
|
P2RY11
|
purinergic receptor P2Y, G-protein coupled, 11
|
|
PAX8
|
paired box 8
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PDHA1
|
pyruvate dehydrogenase (lipoamide) alpha 1
|
|
PRF1
|
perforin 1 (pore forming protein)
|
|
PRNP
|
prion protein
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
PTS
|
6-pyruvoyltetrahydropterin synthase
|
|
RANBP2
|
RAN binding protein 2
|
|
RMND1
|
required for meiotic nuclear division 1 homolog (S. cerevisiae)
|
|
SCN2A
|
sodium channel, voltage gated, type II alpha subunit
|
|
SLC16A1
|
solute carrier family 16 (monocarboxylate transporter), member 1
|
|
SLC19A3
|
solute carrier family 19 (thiamine transporter), member 3
|
|
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
|
|
SLC25A19
|
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
|
|
SLC25A20
|
solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC39A4
|
solute carrier family 39 (zinc transporter), member 4
|
|
SLC5A5
|
solute carrier family 5 (sodium/iodide cotransporter), member 5
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SNCB
|
synuclein, beta
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
TBP
|
TATA box binding protein
|
|
TCN2
|
transcobalamin II
|
|
TFAP2B
|
transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
|
|
THRA
|
thyroid hormone receptor, alpha
|
|
TLR4
|
toll-like receptor 4
|
|
TNFSF4
|
tumor necrosis factor (ligand) superfamily, member 4
|
|
UROD
|
uroporphyrinogen decarboxylase
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
ZNF365
|
zinc finger protein 365
|
