| Symbol |
Name |
|
ADCY5
|
adenylate cyclase 5
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
ALDH5A1
|
aldehyde dehydrogenase 5 family, member A1
|
|
ARSA
|
arylsulfatase A
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
B4GALNT1
|
beta-1,4-N-acetyl-galactosaminyl transferase 1
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX15
|
cytochrome c oxidase assembly homolog 15 (yeast)
|
|
CPOX
|
coproporphyrinogen oxidase
|
|
CREBBP
|
CREB binding protein
|
|
CTSF
|
cathepsin F
|
|
CUL4B
|
cullin 4B
|
|
DDC
|
dopa decarboxylase (aromatic L-amino acid decarboxylase)
|
|
DEAF1
|
DEAF1 transcription factor
|
|
DRD2
|
dopamine receptor D2
|
|
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
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FTL
|
ferritin, light polypeptide
|
|
GNAS
|
GNAS complex locus
|
|
HDAC8
|
histone deacetylase 8
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
IGF1R
|
insulin-like growth factor 1 receptor
|
|
IKBKAP
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
|
JPH3
|
junctophilin 3
|
|
KPTN
|
kaptin (actin binding protein)
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MTPAP
|
mitochondrial poly(A) polymerase
|
|
NDUFA10
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
|
|
NDUFA12
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
|
|
NDUFA2
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
|
|
NDUFA9
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
|
|
NDUFAF2
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
|
|
NDUFAF6
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
|
|
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)
|
|
NDUFS7
|
NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
|
|
NDUFS8
|
NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NR3C1
|
nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
|
|
NTRK1
|
neurotrophic tyrosine kinase, receptor, type 1
|
|
PAH
|
phenylalanine hydroxylase
|
|
PAK3
|
p21 protein (Cdc42/Rac)-activated kinase 3
|
|
PARK7
|
parkinson protein 7
|
|
PDE11A
|
phosphodiesterase 11A
|
|
PDGFB
|
platelet-derived growth factor beta polypeptide
|
|
PGK1
|
phosphoglycerate kinase 1
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
PPP2R2B
|
protein phosphatase 2, regulatory subunit B, beta
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PRKACA
|
protein kinase, cAMP-dependent, catalytic, alpha
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRNP
|
prion protein
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
SCN8A
|
sodium channel, voltage gated, type VIII alpha subunit
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SGCE
|
sarcoglycan, epsilon
|
|
SLC39A4
|
solute carrier family 39 (zinc transporter), member 4
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SPG20
|
spastic paraplegia 20 (Troyer syndrome)
|
|
SURF1
|
surfeit 1
|
|
TARDBP
|
TAR DNA binding protein
|
|
TBX1
|
T-box 1
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TTC19
|
tetratricopeptide repeat domain 19
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
