| Symbol |
Name |
|
ABCA12
|
ATP-binding cassette, sub-family A (ABC1), member 12
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
|
ADCY5
|
adenylate cyclase 5
|
|
ADSL
|
adenylosuccinate lyase
|
|
AFF2
|
AF4/FMR2 family, member 2
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
ALDH5A1
|
aldehyde dehydrogenase 5 family, member A1
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
AMT
|
aminomethyltransferase
|
|
ANK3
|
ankyrin 3, node of Ranvier (ankyrin G)
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
AQP2
|
aquaporin 2 (collecting duct)
|
|
ARG1
|
arginase 1
|
|
ARSA
|
arylsulfatase A
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ASL
|
argininosuccinate lyase
|
|
ASS1
|
argininosuccinate synthase 1
|
|
ATP13A2
|
ATPase type 13A2
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATP2A2
|
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
|
|
ATP5A1
|
ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
ATXN10
|
ataxin 10
|
|
AVPR2
|
arginine vasopressin receptor 2
|
|
B4GALNT1
|
beta-1,4-N-acetyl-galactosaminyl transferase 1
|
|
BCOR
|
BCL6 corepressor
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CASC5
|
cancer susceptibility candidate 5
|
|
CCT5
|
chaperonin containing TCP1, subunit 5 (epsilon)
|
|
CEP152
|
centrosomal protein 152kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHMP2B
|
charged multivesicular body protein 2B
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
CLN6
|
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
|
|
CLN8
|
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
|
|
COG4
|
component of oligomeric golgi complex 4
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX15
|
cytochrome c oxidase assembly homolog 15 (yeast)
|
|
CPOX
|
coproporphyrinogen oxidase
|
|
CPS1
|
carbamoyl-phosphate synthase 1, mitochondrial
|
|
CREBBP
|
CREB binding protein
|
|
CSF1R
|
colony stimulating factor 1 receptor
|
|
CTSF
|
cathepsin F
|
|
CUL4B
|
cullin 4B
|
|
CYP27B1
|
cytochrome P450, family 27, subfamily B, polypeptide 1
|
|
DCTN1
|
dynactin 1
|
|
DDC
|
dopa decarboxylase (aromatic L-amino acid decarboxylase)
|
|
DEAF1
|
DEAF1 transcription factor
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DNAJC5
|
DnaJ (Hsp40) homolog, subfamily C, member 5
|
|
DNMT1
|
DNA (cytosine-5-)-methyltransferase 1
|
|
DPAGT1
|
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
|
|
DRD2
|
dopamine receptor D2
|
|
ECM1
|
extracellular matrix protein 1
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
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
|
|
FBP1
|
fructose-1,6-bisphosphatase 1
|
|
FGF14
|
fibroblast growth factor 14
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FMO3
|
flavin containing monooxygenase 3
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXP1
|
forkhead box P1
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FTL
|
ferritin, light polypeptide
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GBA
|
glucosidase, beta, acid
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GCSH
|
glycine cleavage system protein H (aminomethyl carrier)
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GLDC
|
glycine dehydrogenase (decarboxylating)
|
|
GM2A
|
GM2 ganglioside activator
|
|
GNAS
|
GNAS complex locus
|
|
GRIA3
|
glutamate receptor, ionotropic, AMPA 3
|
|
GRN
|
granulin
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC8
|
histone deacetylase 8
|
|
HERC2
|
HECT and RLD domain containing E3 ubiquitin protein ligase 2
|
|
HEXA
|
hexosaminidase A (alpha polypeptide)
|
|
HLCS
|
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
|
HTT
|
huntingtin
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IGF1R
|
insulin-like growth factor 1 receptor
|
|
IKBKAP
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
JPH3
|
junctophilin 3
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNT1
|
potassium channel, sodium activated subfamily T, member 1
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KMT2A
|
lysine (K)-specific methyltransferase 2A
|
|
KPTN
|
kaptin (actin binding protein)
|
|
LEPR
|
leptin receptor
|
|
LINS
|
lines homolog (Drosophila)
|
|
LOR
|
loricrin
|
|
MAN1B1
|
mannosidase, alpha, class 1B, member 1
|
|
MANBA
|
mannosidase, beta A, lysosomal
|
|
MAOA
|
monoamine oxidase A
|
|
MAPT
|
microtubule-associated protein tau
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MGAT2
|
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
|
|
MTPAP
|
mitochondrial poly(A) polymerase
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NAGLU
|
N-acetylglucosaminidase, alpha
|
|
NAGS
|
N-acetylglutamate synthase
|
|
NDE1
|
nudE neurodevelopment protein 1
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
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)
|
|
NGF
|
nerve growth factor (beta polypeptide)
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NR3C1
|
nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
NTRK1
|
neurotrophic tyrosine kinase, receptor, type 1
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OTC
|
ornithine carbamoyltransferase
|
|
PAH
|
phenylalanine hydroxylase
|
|
PAK3
|
p21 protein (Cdc42/Rac)-activated kinase 3
|
|
PANK2
|
pantothenate kinase 2
|
|
PARK7
|
parkinson protein 7
|
|
PCDH19
|
protocadherin 19
|
|
PDE11A
|
phosphodiesterase 11A
|
|
PDGFB
|
platelet-derived growth factor beta polypeptide
|
|
PGK1
|
phosphoglycerate kinase 1
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
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
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PRDM16
|
PR domain containing 16
|
|
PRF1
|
perforin 1 (pore forming protein)
|
|
PRKACA
|
protein kinase, cAMP-dependent, catalytic, alpha
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRKCG
|
protein kinase C, gamma
|
|
PRNP
|
prion protein
|
|
PRODH
|
proline dehydrogenase (oxidase) 1
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
PSEN1
|
presenilin 1
|
|
PTS
|
6-pyruvoyltetrahydropterin synthase
|
|
QDPR
|
quinoid dihydropteridine reductase
|
|
RAI1
|
retinoic acid induced 1
|
|
RBBP8
|
retinoblastoma binding protein 8
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
SATB2
|
SATB homeobox 2
|
|
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
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SEPSECS
|
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
|
|
SGCE
|
sarcoglycan, epsilon
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SKI
|
SKI proto-oncogene
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC20A2
|
solute carrier family 20 (phosphate transporter), member 2
|
|
SLC25A1
|
solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
|
|
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
|
|
SLC46A1
|
solute carrier family 46 (folate transporter), member 1
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SLITRK1
|
SLIT and NTRK-like family, member 1
|
|
SMARCA2
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
|
|
SPAST
|
spastin
|
|
SPG20
|
spastic paraplegia 20 (Troyer syndrome)
|
|
SPG21
|
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
|
|
SPR
|
sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
|
|
ST3GAL3
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
|
|
ST3GAL5
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
SURF1
|
surfeit 1
|
|
SYN1
|
synapsin I
|
|
TARDBP
|
TAR DNA binding protein
|
|
TBP
|
TATA box binding protein
|
|
TBX1
|
T-box 1
|
|
TCF4
|
transcription factor 4
|
|
TCN2
|
transcobalamin II
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TREM2
|
triggering receptor expressed on myeloid cells 2
|
|
TTC19
|
tetratricopeptide repeat domain 19
|
|
TTI2
|
TELO2 interacting protein 2
|
|
TYROBP
|
TYRO protein tyrosine kinase binding protein
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
UQCC2
|
ubiquinol-cytochrome c reductase complex assembly factor 2
|
|
UROC1
|
urocanate hydratase 1
|
|
UROS
|
uroporphyrinogen III synthase
|
|
USP9X
|
ubiquitin specific peptidase 9, X-linked
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
VPS53
|
vacuolar protein sorting 53 homolog (S. cerevisiae)
|
|
WDR45
|
WD repeat domain 45
|
|
WDR62
|
WD repeat domain 62
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
