| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
ABCB6
|
ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
|
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
ALDH18A1
|
aldehyde dehydrogenase 18 family, member A1
|
|
ALDH3A2
|
aldehyde dehydrogenase 3 family, member A2
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
AMPD2
|
adenosine monophosphate deaminase 2
|
|
AP4B1
|
adaptor-related protein complex 4, beta 1 subunit
|
|
AP4E1
|
adaptor-related protein complex 4, epsilon 1 subunit
|
|
AP4M1
|
adaptor-related protein complex 4, mu 1 subunit
|
|
AP4S1
|
adaptor-related protein complex 4, sigma 1 subunit
|
|
AP5Z1
|
adaptor-related protein complex 5, zeta 1 subunit
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
ARG1
|
arginase 1
|
|
ARL6IP1
|
ADP-ribosylation factor-like 6 interacting protein 1
|
|
ARX
|
aristaless related homeobox
|
|
ATAD3A
|
ATPase family, AAA domain containing 3A
|
|
ATL1
|
atlastin GTPase 1
|
|
ATL3
|
atlastin GTPase 3
|
|
ATP13A2
|
ATPase type 13A2
|
|
ATP1A1
|
ATPase, Na+/K+ transporting, alpha 1 polypeptide
|
|
ATP2B4
|
ATPase, Ca++ transporting, plasma membrane 4
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
ATXN2
|
ataxin 2
|
|
ATXN3
|
ataxin 3
|
|
ATXN7
|
ataxin 7
|
|
B4GALNT1
|
beta-1,4-N-acetyl-galactosaminyl transferase 1
|
|
BICD2
|
bicaudal D homolog 2 (Drosophila)
|
|
BIVM-ERCC5
|
BIVM-ERCC5 readthrough
|
|
BORCS7
|
BLOC-1 related complex subunit 7
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
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
|
|
CACNA1D
|
calcium channel, voltage-dependent, L type, alpha 1D subunit
|
|
CALM1
|
calmodulin 1 (phosphorylase kinase, delta)
|
|
CALM2
|
calmodulin 2 (phosphorylase kinase, delta)
|
|
CALM3
|
calmodulin 3 (phosphorylase kinase, delta)
|
|
CAMKMT
|
calmodulin-lysine N-methyltransferase
|
|
CAPN1
|
calpain 1, (mu/I) large subunit
|
|
CAPN3
|
calpain 3, (p94)
|
|
CCT5
|
chaperonin containing TCP1, subunit 5 (epsilon)
|
|
CDK2AP1
|
cyclin-dependent kinase 2 associated protein 1
|
|
CDSN
|
corneodesmosin
|
|
CPT1C
|
carnitine palmitoyltransferase 1C
|
|
CUX1
|
cut-like homeobox 1
|
|
CXCL1
|
chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)
|
|
CYP2B6
|
cytochrome P450, family 2, subfamily B, polypeptide 6
|
|
CYP2U1
|
cytochrome P450, family 2, subfamily U, polypeptide 1
|
|
CYP39A1
|
cytochrome P450, family 39, subfamily A, polypeptide 1
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
DAPK1
|
death-associated protein kinase 1
|
|
DCTN1
|
dynactin 1
|
|
DDHD1
|
DDHD domain containing 1
|
|
DDHD2
|
DDHD domain containing 2
|
|
DNM1L
|
dynamin 1-like
|
|
DNM2
|
dynamin 2
|
|
DPY30
|
dpy-30 homolog (C. elegans)
|
|
DSTYK
|
dual serine/threonine and tyrosine protein kinase
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
EGFR
|
epidermal growth factor receptor
|
|
ENTPD1
|
ectonucleoside triphosphate diphosphohydrolase 1
|
|
EPB41L4A
|
erythrocyte membrane protein band 4.1 like 4A
|
|
EPHB1
|
EPH receptor B1
|
|
EPT1
|
ethanolaminephosphotransferase 1
|
|
ERCC5
|
excision repair cross-complementation group 5
|
|
ERLIN1
|
ER lipid raft associated 1
|
|
ERLIN2
|
ER lipid raft associated 2
|
|
FA2H
|
fatty acid 2-hydroxylase
|
|
FAM126A
|
family with sequence similarity 126, member A
|
|
FAR1
|
fatty acyl CoA reductase 1
|
|
FARS2
|
phenylalanyl-tRNA synthetase 2, mitochondrial
|
|
FBXO7
|
F-box protein 7
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FLRT1
|
fibronectin leucine rich transmembrane protein 1
|
|
FXN
|
frataxin
|
|
GALC
|
galactosylceramidase
|
|
GAN
|
gigaxonin
|
|
GARS
|
glycyl-tRNA synthetase
|
|
GART
|
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GFAP
|
glial fibrillary acidic protein
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GLRX5
|
glutaredoxin 5
|
|
GPT2
|
glutamic pyruvate transaminase (alanine aminotransferase) 2
|
|
GRID2
|
glutamate receptor, ionotropic, delta 2
|
|
HACE1
|
HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
|
|
HSD17B6
|
hydroxysteroid (17-beta) dehydrogenase 6
|
|
HSPA14
|
heat shock 70kDa protein 14
|
|
HSPA4
|
heat shock 70kDa protein 4
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
HSPB8
|
heat shock 22kDa protein 8
|
|
HSPD1
|
heat shock 60kDa protein 1 (chaperonin)
|
|
HSPE1
|
heat shock 10kDa protein 1
|
|
IBA57
|
IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IFT122
|
intraflagellar transport 122
|
|
IMMT
|
inner membrane protein, mitochondrial
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
KCNA2
|
potassium channel, voltage gated shaker related subfamily A, member 2
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KIDINS220
|
kinase D-interacting substrate, 220kDa
|
|
KIF1A
|
kinesin family member 1A
|
|
KIF1B
|
kinesin family member 1B
|
|
KIF1C
|
kinesin family member 1C
|
|
KIF5A
|
kinesin family member 5A
|
|
KIF5B
|
kinesin family member 5B
|
|
KIF5C
|
kinesin family member 5C
|
|
KLC2
|
kinesin light chain 2
|
|
KLC4
|
kinesin light chain 4
|
|
KLF4
|
Kruppel-like factor 4 (gut)
|
|
KRIT1
|
KRIT1, ankyrin repeat containing
|
|
KY
|
kyphoscoliosis peptidase
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
LAMB1
|
laminin, beta 1
|
|
LY6E
|
lymphocyte antigen 6 complex, locus E
|
|
LYST
|
lysosomal trafficking regulator
|
|
MAD2L1BP
|
MAD2L1 binding protein
|
|
MAG
|
myelin associated glycoprotein
|
|
MAP1LC3B
|
microtubule-associated protein 1 light chain 3 beta
|
|
MAPK8
|
mitogen-activated protein kinase 8
|
|
MCM7
|
minichromosome maintenance complex component 7
|
|
MFN2
|
mitofusin 2
|
|
MLC1
|
megalencephalic leukoencephalopathy with subcortical cysts 1
|
|
MT-ATP6
|
ATP synthase F0 subunit 6
|
|
NEFL
|
neurofilament, light polypeptide
|
|
NFU1
|
NFU1 iron-sulfur cluster scaffold
|
|
NIPA1
|
non imprinted in Prader-Willi/Angelman syndrome 1
|
|
NKX1-1
|
NK1 homeobox 1
|
|
NOP56
|
NOP56 ribonucleoprotein
|
|
NPPA
|
natriuretic peptide A
|
|
NT5C2
|
5'-nucleotidase, cytosolic II
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
PANK1
|
pantothenate kinase 1
|
|
PANK2
|
pantothenate kinase 2
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PAX3
|
paired box 3
|
|
PCBP1
|
poly(rC) binding protein 1
|
|
PCYT2
|
phosphate cytidylyltransferase 2, ethanolamine
|
|
PDHX
|
pyruvate dehydrogenase complex, component X
|
|
PDXP
|
pyridoxal (pyridoxine, vitamin B6) phosphatase
|
|
PEX3
|
peroxisomal biogenesis factor 3
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLK2
|
polo-like kinase 2
|
|
PLP1
|
proteolipid protein 1
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
POLR3A
|
polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
|
|
POU2F3
|
POU class 2 homeobox 3
|
|
PPM1N
|
protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PRDX5
|
peroxiredoxin 5
|
|
PRKRA
|
protein kinase, interferon-inducible double stranded RNA dependent activator
|
|
PSEN1
|
presenilin 1
|
|
PTHLH
|
parathyroid hormone-like hormone
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
REEP1
|
receptor accessory protein 1
|
|
REEP2
|
receptor accessory protein 2
|
|
RNASEH2B
|
ribonuclease H2, subunit B
|
|
RNF170
|
ring finger protein 170
|
|
RTN1
|
reticulon 1
|
|
RTN2
|
reticulon 2
|
|
S100A4
|
S100 calcium binding protein A4
|
|
SACS
|
sacsin molecular chaperone
|
|
SETX
|
senataxin
|
|
SFXN1
|
sideroflexin 1
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC1A2
|
solute carrier family 1 (glial high affinity glutamate transporter), member 2
|
|
SLC1A4
|
solute carrier family 1 (glutamate/neutral amino acid transporter), member 4
|
|
SLC25A15
|
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC30A6
|
solute carrier family 30 (zinc transporter), member 6
|
|
SLC33A1
|
solute carrier family 33 (acetyl-CoA transporter), member 1
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SNTB1
|
syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)
|
|
SPART
|
spartin
|
|
SPAST
|
spastin
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPG21
|
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
ST14
|
suppression of tumorigenicity 14 (colon carcinoma)
|
|
ST3GAL5
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
|
|
STATH
|
statherin
|
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
|
STXBP1
|
syntaxin binding protein 1
|
|
SYNE1
|
spectrin repeat containing, nuclear envelope 1
|
|
TAPBPL
|
TAP binding protein-like
|
|
TBK1
|
TANK-binding kinase 1
|
|
TECPR2
|
tectonin beta-propeller repeat containing 2
|
|
TFG
|
TRK-fused gene
|
|
TH
|
tyrosine hydroxylase
|
|
TMEM67
|
transmembrane protein 67
|
|
TOE1
|
target of EGR1, member 1 (nuclear)
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
TXNRD1
|
thioredoxin reductase 1
|
|
UBAP1
|
ubiquitin associated protein 1
|
|
UBQLN2
|
ubiquilin 2
|
|
UCHL1
|
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
|
|
USP8
|
ubiquitin specific peptidase 8
|
|
VAMP1
|
vesicle-associated membrane protein 1 (synaptobrevin 1)
|
|
VCP
|
valosin containing protein
|
|
VPS37A
|
vacuolar protein sorting 37 homolog A (S. cerevisiae)
|
|
VTN
|
vitronectin
|
|
WASHC5
|
WASH complex subunit 5
|
|
WDR45B
|
WD repeat domain 45B
|
|
WDR48
|
WD repeat domain 48
|
|
YME1L1
|
YME1-like 1 ATPase
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
|
ZFYVE27
|
zinc finger, FYVE domain containing 27
|
