| Symbol |
Name |
|
ABCA7
|
ATP-binding cassette, sub-family A (ABC1), member 7
|
|
ABCB1
|
ATP-binding cassette, sub-family B (MDR/TAP), member 1
|
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALDH3B1
|
aldehyde dehydrogenase 3 family, member B1
|
|
ALDH5A1
|
aldehyde dehydrogenase 5 family, member A1
|
|
APOE
|
apolipoprotein E
|
|
APOL2
|
apolipoprotein L, 2
|
|
APOL4
|
apolipoprotein L, 4
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
ARHGEF9
|
Cdc42 guanine nucleotide exchange factor (GEF) 9
|
|
ARSA
|
arylsulfatase A
|
|
ARSG
|
arylsulfatase G
|
|
ATP13A2
|
ATPase type 13A2
|
|
BCKDHA
|
branched chain keto acid dehydrogenase E1, alpha polypeptide
|
|
BCKDHB
|
branched chain keto acid dehydrogenase E1, beta polypeptide
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
BPTF
|
bromodomain PHD finger transcription factor
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CCK
|
cholecystokinin
|
|
CCKAR
|
cholecystokinin A receptor
|
|
CCL11
|
chemokine (C-C motif) ligand 11
|
|
CDH23
|
cadherin-related 23
|
|
CEP78
|
centrosomal protein 78kDa
|
|
CHCHD10
|
coiled-coil-helix-coiled-coil-helix domain containing 10
|
|
CHI3L1
|
chitinase 3-like 1 (cartilage glycoprotein-39)
|
|
CHRM3
|
cholinergic receptor, muscarinic 3
|
|
CIB2
|
calcium and integrin binding family member 2
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CLRN1
|
clarin 1
|
|
COMT
|
catechol-O-methyltransferase
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CPOX
|
coproporphyrinogen oxidase
|
|
CRLS1
|
cardiolipin synthase 1
|
|
CTSH
|
cathepsin H
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
DAOA
|
D-amino acid oxidase activator
|
|
DBT
|
dihydrolipoamide branched chain transacylase E2
|
|
DCAF17
|
DDB1 and CUL4 associated factor 17
|
|
DFNB31
|
deafness, autosomal recessive 31
|
|
DNAJC6
|
DnaJ (Hsp40) homolog, subfamily C, member 6
|
|
DNASE1L3
|
deoxyribonuclease I-like 3
|
|
DNM1L
|
dynamin 1-like
|
|
DRD1
|
dopamine receptor D1
|
|
DRD2
|
dopamine receptor D2
|
|
DRD3
|
dopamine receptor D3
|
|
DTNBP1
|
dystrobrevin binding protein 1
|
|
EBPL
|
emopamil binding protein-like
|
|
ECM1
|
extracellular matrix protein 1
|
|
ELK3
|
ELK3, ETS-domain protein (SRF accessory protein 2)
|
|
EPCAM
|
epithelial cell adhesion molecule
|
|
ERBB4
|
erb-b2 receptor tyrosine kinase 4
|
|
FAN1
|
FANCD2/FANCI-associated nuclease 1
|
|
FLNB
|
filamin B, beta
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXP2
|
forkhead box P2
|
|
FUS
|
FUS RNA binding protein
|
|
GABRB3
|
gamma-aminobutyric acid (GABA) A receptor, beta 3
|
|
GNAO1
|
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
|
|
GRIA1
|
glutamate receptor, ionotropic, AMPA 1
|
|
GRN
|
granulin
|
|
GSTA1
|
glutathione S-transferase alpha 1
|
|
HAL
|
histidine ammonia-lyase
|
|
HARS1
|
histidyl-tRNA synthetase 1
|
|
HCRT
|
hypocretin (orexin) neuropeptide precursor
|
|
HLA-DQB1
|
major histocompatibility complex, class II, DQ beta 1
|
|
HLA-DQB2
|
major histocompatibility complex, class II, DQ beta 2
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
HOMER1
|
homer scaffolding protein 1
|
|
HTR2A
|
5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
|
|
HTR6
|
5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled
|
|
HTRA2
|
HtrA serine peptidase 2
|
|
IGFALS
|
insulin-like growth factor binding protein, acid labile subunit
|
|
IL1B
|
interleukin 1, beta
|
|
JPH3
|
junctophilin 3
|
|
KCNQ2
|
potassium channel, voltage gated KQT-like subfamily Q, member 2
|
|
KCNQ3
|
potassium channel, voltage gated KQT-like subfamily Q, member 3
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
LYST
|
lysosomal trafficking regulator
|
|
MAOB
|
monoamine oxidase B
|
|
MAPT
|
microtubule-associated protein tau
|
|
MED12
|
mediator complex subunit 12
|
|
MLH1
|
mutL homolog 1
|
|
MLH3
|
mutL homolog 3
|
|
MOG
|
myelin oligodendrocyte glycoprotein
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MYO7A
|
myosin VIIA
|
|
ND1
|
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NOTCH3
|
notch 3
|
|
NXF1
|
nuclear RNA export factor 1
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
OPRK1
|
opioid receptor, kappa 1
|
|
P2RY11
|
purinergic receptor P2Y, G-protein coupled, 11
|
|
PAH
|
phenylalanine hydroxylase
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PARK7
|
parkinson protein 7
|
|
PCDH15
|
protocadherin-related 15
|
|
PDZD7
|
PDZ domain containing 7
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PMS1
|
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
PODXL
|
podocalyxin-like
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PRDM8
|
PR domain containing 8
|
|
PRNP
|
prion protein
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
PSAP
|
prosaposin
|
|
PSEN1
|
presenilin 1
|
|
PSEN2
|
presenilin 2
|
|
PSMD12
|
proteasome (prosome, macropain) 26S subunit, non-ATPase, 12
|
|
PVALB
|
parvalbumin
|
|
REM1
|
RAS (RAD and GEM)-like GTP-binding 1
|
|
RPS20
|
ribosomal protein S20
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RTN4R
|
reticulon 4 receptor
|
|
SCN2A
|
sodium channel, voltage gated, type II alpha subunit
|
|
SCN8A
|
sodium channel, voltage gated, type VIII alpha subunit
|
|
SEC14L2
|
SEC14-like 2 (S. cerevisiae)
|
|
SEMA4A
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
|
|
SLC25A13
|
solute carrier family 25 (aspartate/glutamate carrier), member 13
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SLC6A4
|
solute carrier family 6 (neurotransmitter transporter), member 4
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SORL1
|
sortilin-related receptor, L(DLR class) A repeats containing
|
|
SPART
|
spartin
|
|
SQSTM1
|
sequestosome 1
|
|
SYN2
|
synapsin II
|
|
SYNM
|
synemin, intermediate filament protein
|
|
TARDBP
|
TAR DNA binding protein
|
|
TBC1D9
|
TBC1 domain family, member 9 (with GRAM domain)
|
|
TBK1
|
TANK-binding kinase 1
|
|
TBP
|
TATA box binding protein
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TNFSF14
|
tumor necrosis factor (ligand) superfamily, member 14
|
|
TNFSF4
|
tumor necrosis factor (ligand) superfamily, member 4
|
|
TOMM40
|
translocase of outer mitochondrial membrane 40 homolog (yeast)
|
|
TREM2
|
triggering receptor expressed on myeloid cells 2
|
|
TTC19
|
tetratricopeptide repeat domain 19
|
|
UCHL1
|
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
|
|
UPF3B
|
UPF3 regulator of nonsense transcripts homolog B (yeast)
|
|
USH1C
|
Usher syndrome 1C (autosomal recessive, severe)
|
|
USH1G
|
Usher syndrome 1G (autosomal recessive)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
USO1
|
USO1 vesicle transport factor
|
|
VCP
|
valosin containing protein
|
|
VEGFA
|
vascular endothelial growth factor A
|
|
VPS13C
|
vacuolar protein sorting 13 homolog C (S. cerevisiae)
|
|
VWF
|
von Willebrand factor
|
|
WAS
|
Wiskott-Aldrich syndrome
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
ZDHHC9
|
zinc finger, DHHC-type containing 9
|
|
ZNF365
|
zinc finger protein 365
|
