| Symbol |
Name |
|
AARS2
|
alanyl-tRNA synthetase 2, mitochondrial
|
|
ABCB7
|
ATP-binding cassette, sub-family B (MDR/TAP), member 7
|
|
ABHD12
|
abhydrolase domain containing 12
|
|
ADAMTS13
|
ADAM metallopeptidase with thrombospondin type 1 motif, 13
|
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
ADCK3
|
aarF domain containing kinase 3
|
|
ADCY5
|
adenylate cyclase 5
|
|
ADRA2B
|
adrenoceptor alpha 2B
|
|
AHI1
|
Abelson helper integration site 1
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
AMACR
|
alpha-methylacyl-CoA racemase
|
|
ANO3
|
anoctamin 3
|
|
ANOS1
|
anosmin 1
|
|
APTX
|
aprataxin
|
|
AR
|
androgen receptor
|
|
ARL13B
|
ADP-ribosylation factor-like 13B
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ATCAY
|
ataxia, cerebellar, Cayman type
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATP2B3
|
ATPase, Ca++ transporting, plasma membrane 3
|
|
ATP6AP2
|
ATPase, H+ transporting, lysosomal accessory protein 2
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
ATXN2
|
ataxin 2
|
|
ATXN7
|
ataxin 7
|
|
ATXN8
|
ataxin 8
|
|
ATXN8OS
|
ATXN8 opposite strand (non-protein coding)
|
|
B9D1
|
B9 protein domain 1
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
CA8
|
carbonic anhydrase VIII
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CEP126
|
centrosomal protein 126kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
CNTN2
|
contactin 2 (axonal)
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CP
|
ceruloplasmin (ferroxidase)
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTSF
|
cathepsin F
|
|
CUL4B
|
cullin 4B
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
DARS2
|
aspartyl-tRNA synthetase 2, mitochondrial
|
|
DCTN1
|
dynactin 1
|
|
DNAJC6
|
DnaJ (Hsp40) homolog, subfamily C, member 6
|
|
DPAGT1
|
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
|
|
DPM1
|
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
|
|
DRD2
|
dopamine receptor D2
|
|
DRD5
|
dopamine receptor D5
|
|
DUSP6
|
dual specificity phosphatase 6
|
|
EIF4G1
|
eukaryotic translation initiation factor 4 gamma, 1
|
|
ELN
|
elastin
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
FAM126A
|
family with sequence similarity 126, member A
|
|
FBXO7
|
F-box protein 7
|
|
FEZF1
|
FEZ family zinc finger 1
|
|
FGF14
|
fibroblast growth factor 14
|
|
FGF17
|
fibroblast growth factor 17
|
|
FGF8
|
fibroblast growth factor 8 (androgen-induced)
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FLRT3
|
fibronectin leucine rich transmembrane protein 3
|
|
FMR1
|
fragile X mental retardation 1
|
|
FTL
|
ferritin, light polypeptide
|
|
FUS
|
FUS RNA binding protein
|
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GIGYF2
|
GRB10 interacting GYF protein 2
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GOSR2
|
golgi SNAP receptor complex member 2
|
|
GRM1
|
glutamate receptor, metabotropic 1
|
|
GSS
|
glutathione synthetase
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HESX1
|
HESX homeobox 1
|
|
HMGA2
|
high mobility group AT-hook 2
|
|
HS6ST1
|
heparan sulfate 6-O-sulfotransferase 1
|
|
HTRA2
|
HtrA serine peptidase 2
|
|
IL17RD
|
interleukin 17 receptor D
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
ITM2B
|
integral membrane protein 2B
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
JPH3
|
junctophilin 3
|
|
KCNA1
|
potassium channel, voltage gated shaker related subfamily A, member 1
|
|
KCND3
|
potassium channel, voltage gated Shal related subfamily D, member 3
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
KIF1C
|
kinesin family member 1C
|
|
KIF7
|
kinesin family member 7
|
|
KISS1R
|
KISS1 receptor
|
|
LEMD3
|
LEM domain containing 3
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMNB1
|
lamin B1
|
|
LRPPRC
|
leucine-rich pentatricopeptide repeat containing
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
LYST
|
lysosomal trafficking regulator
|
|
MAPT
|
microtubule-associated protein tau
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MFN2
|
mitofusin 2
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MMAA
|
methylmalonic aciduria (cobalamin deficiency) cblA type
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
MPZ
|
myelin protein zero
|
|
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
|
|
MTFMT
|
mitochondrial methionyl-tRNA formyltransferase
|
|
MYH14
|
myosin, heavy chain 14, non-muscle
|
|
MYO5A
|
myosin VA (heavy chain 12, myoxin)
|
|
ND1
|
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NIPA1
|
non imprinted in Prader-Willi/Angelman syndrome 1
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NSMF
|
NMDA receptor synaptonuclear signaling and neuronal migration factor
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OPA3
|
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
|
|
PAH
|
phenylalanine hydroxylase
|
|
PANK2
|
pantothenate kinase 2
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PARK7
|
parkinson protein 7
|
|
PCBD1
|
pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PDK3
|
pyruvate dehydrogenase kinase, isozyme 3
|
|
PDYN
|
prodynorphin
|
|
PIGN
|
phosphatidylinositol glycan anchor biosynthesis, class N
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLP1
|
proteolipid protein 1
|
|
PMP22
|
peripheral myelin protein 22
|
|
PNP
|
purine nucleoside phosphorylase
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLR3A
|
polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
|
|
POLR3B
|
polymerase (RNA) III (DNA directed) polypeptide B
|
|
PPP2R2B
|
protein phosphatase 2, regulatory subunit B, beta
|
|
PRICKLE1
|
prickle homolog 1 (Drosophila)
|
|
PRKRA
|
protein kinase, interferon-inducible double stranded RNA dependent activator
|
|
PRNP
|
prion protein
|
|
PROK2
|
prokineticin 2
|
|
PROKR2
|
prokineticin receptor 2
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTS
|
6-pyruvoyltetrahydropterin synthase
|
|
QDPR
|
quinoid dihydropteridine reductase
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SCP2
|
sterol carrier protein 2
|
|
SEMA3A
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
|
|
SETX
|
senataxin
|
|
SFXN4
|
sideroflexin 4
|
|
SGCE
|
sarcoglycan, epsilon
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC20A2
|
solute carrier family 20 (phosphate transporter), member 2
|
|
SLC30A10
|
solute carrier family 30, member 10
|
|
SLC39A4
|
solute carrier family 39 (zinc transporter), member 4
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SLC5A7
|
solute carrier family 5 (sodium/choline cotransporter), member 7
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SNX10
|
sorting nexin 10
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SPR
|
sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
|
|
SPRY4
|
sprouty homolog 4 (Drosophila)
|
|
SPTBN2
|
spectrin, beta, non-erythrocytic 2
|
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
|
STXBP1
|
syntaxin binding protein 1
|
|
SYNJ1
|
synaptojanin 1
|
|
TACR3
|
tachykinin receptor 3
|
|
TAF1
|
TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
|
|
TAT
|
tyrosine aminotransferase
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBP
|
TATA box binding protein
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TCTN1
|
tectonic family member 1
|
|
TCTN2
|
tectonic family member 2
|
|
TCTN3
|
tectonic family member 3
|
|
TFG
|
TRK-fused gene
|
|
TGM6
|
transglutaminase 6
|
|
TH
|
tyrosine hydroxylase
|
|
TIMM8A
|
translocase of inner mitochondrial membrane 8 homolog A (yeast)
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM67
|
transmembrane protein 67
|
|
TMEM70
|
transmembrane protein 70
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TNNT1
|
troponin T type 1 (skeletal, slow)
|
|
TOR1A
|
torsin family 1, member A (torsin A)
|
|
TPI1
|
triosephosphate isomerase 1
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TRAPPC11
|
trafficking protein particle complex 11
|
|
TSFM
|
Ts translation elongation factor, mitochondrial
|
|
TTC19
|
tetratricopeptide repeat domain 19
|
|
TTPA
|
tocopherol (alpha) transfer protein
|
|
TTR
|
transthyretin
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UCHL1
|
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
|
|
UROC1
|
urocanate hydratase 1
|
|
VAPB
|
VAMP (vesicle-associated membrane protein)-associated protein B and C
|
|
VLDLR
|
very low density lipoprotein receptor
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
VPS35
|
vacuolar protein sorting 35 homolog (S. cerevisiae)
|
|
WDR11
|
WD repeat domain 11
|
|
WDR45
|
WD repeat domain 45
|
|
WDR81
|
WD repeat domain 81
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
