| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
ACE
|
angiotensin I converting enzyme
|
|
ACHE
|
acetylcholinesterase (Yt blood group)
|
|
ADAM17
|
ADAM metallopeptidase domain 17
|
|
AGT
|
angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
|
|
AGTR1
|
angiotensin II receptor, type 1
|
|
AKAP9
|
A kinase (PRKA) anchor protein 9
|
|
ALX3
|
ALX homeobox 3
|
|
ANGPT1
|
angiopoietin 1
|
|
ANGPT2
|
angiopoietin 2
|
|
ANK2
|
ankyrin 2, neuronal
|
|
AQP4
|
aquaporin 4
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ASCL1
|
achaete-scute family bHLH transcription factor 1
|
|
ATL1
|
atlastin GTPase 1
|
|
ATP6AP2
|
ATPase, H+ transporting, lysosomal accessory protein 2
|
|
ATXN3
|
ataxin 3
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BPIFA2
|
BPI fold containing family A, member 2
|
|
BRAT1
|
BRCA1-associated ATM activator 1
|
|
CALM1
|
calmodulin 1 (phosphorylase kinase, delta)
|
|
CALM2
|
calmodulin 2 (phosphorylase kinase, delta)
|
|
CASS4
|
Cas scaffolding protein family member 4
|
|
CAV3
|
caveolin 3
|
|
CCHCR1
|
coiled-coil alpha-helical rod protein 1
|
|
CCT5
|
chaperonin containing TCP1, subunit 5 (epsilon)
|
|
CHRNA3
|
cholinergic receptor, nicotinic, alpha 3 (neuronal)
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
COMT
|
catechol-O-methyltransferase
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CSF2
|
colony stimulating factor 2 (granulocyte-macrophage)
|
|
CST3
|
cystatin C
|
|
DBH
|
dopamine beta-hydroxylase (dopamine beta-monooxygenase)
|
|
DNAJC6
|
DnaJ (Hsp40) homolog, subfamily C, member 6
|
|
ECE1
|
endothelin converting enzyme 1
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
ELK3
|
ELK3, ETS-domain protein (SRF accessory protein 2)
|
|
ELP1
|
elongator acetyltransferase complex subunit 1
|
|
EPHB1
|
EPH receptor B1
|
|
FAP
|
fibroblast activation protein, alpha
|
|
FBXO7
|
F-box protein 7
|
|
FGF10
|
fibroblast growth factor 10
|
|
FMR1
|
fragile X mental retardation 1
|
|
GABBR2
|
gamma-aminobutyric acid (GABA) B receptor, 2
|
|
GAD1
|
glutamate decarboxylase 1 (brain, 67kDa)
|
|
GAD2
|
glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
|
|
GCG
|
glucagon
|
|
GFAP
|
glial fibrillary acidic protein
|
|
GLA
|
galactosidase, alpha
|
|
GLP1R
|
glucagon-like peptide 1 receptor
|
|
HTRA2
|
HtrA serine peptidase 2
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
IL6
|
interleukin 6
|
|
KCNE1
|
potassium channel, voltage gated subfamily E regulatory beta subunit 1
|
|
KCNE2
|
potassium channel, voltage gated subfamily E regulatory beta subunit 2
|
|
KCNH2
|
potassium channel, voltage gated eag related subfamily H, member 2
|
|
KCNJ5
|
potassium channel, inwardly rectifying subfamily J, member 5
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
KIF5A
|
kinesin family member 5A
|
|
KLF2
|
Kruppel-like factor 2
|
|
LAMC2
|
laminin, gamma 2
|
|
LEP
|
leptin
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LMNB1
|
lamin B1
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
MAPK3
|
mitogen-activated protein kinase 3
|
|
MAPT
|
microtubule-associated protein tau
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MSMB
|
microseminoprotein, beta-
|
|
MTHFS
|
5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)
|
|
NECTIN1
|
nectin cell adhesion molecule 1
|
|
NEUROD1
|
neuronal differentiation 1
|
|
NGF
|
nerve growth factor (beta polypeptide)
|
|
NGFR
|
nerve growth factor receptor
|
|
NOS1AP
|
nitric oxide synthase 1 (neuronal) adaptor protein
|
|
NPPC
|
natriuretic peptide C
|
|
NR1I2
|
nuclear receptor subfamily 1, group I, member 2
|
|
P4HTM
|
prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PARK7
|
parkinson protein 7
|
|
PHIP
|
pleckstrin homology domain interacting protein
|
|
PHOX2B
|
paired-like homeobox 2b
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3CB
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
|
|
PIK3CD
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
|
|
PIK3CG
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PMP22
|
peripheral myelin protein 22
|
|
PODXL
|
podocalyxin-like
|
|
PRNP
|
prion protein
|
|
PSPH
|
phosphoserine phosphatase
|
|
PSPN
|
persephin
|
|
QRICH1
|
glutamine-rich 1
|
|
RAMP1
|
receptor (G protein-coupled) activity modifying protein 1
|
|
REG1A
|
regenerating islet-derived 1 alpha
|
|
REM1
|
RAS (RAD and GEM)-like GTP-binding 1
|
|
REN
|
renin
|
|
RET
|
ret proto-oncogene
|
|
RIDA
|
reactive intermediate imine deaminase A homolog
|
|
RMND1
|
required for meiotic nuclear division 1 homolog (S. cerevisiae)
|
|
SCN10A
|
sodium channel, voltage gated, type X alpha subunit
|
|
SCN11A
|
sodium channel, voltage gated, type XI alpha subunit
|
|
SCN3A
|
sodium channel, voltage gated, type III alpha subunit
|
|
SCN4B
|
sodium channel, voltage gated, type IV beta subunit
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SELENBP1
|
selenium binding protein 1
|
|
SGCD
|
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
|
|
SHBG
|
sex hormone-binding globulin
|
|
SLC18A2
|
solute carrier family 18 (vesicular monoamine transporter), member 2
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SLC6A2
|
solute carrier family 6 (neurotransmitter transporter), member 2
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SMN2
|
survival of motor neuron 2, centromeric
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SNCB
|
synuclein, beta
|
|
SNCG
|
synuclein, gamma (breast cancer-specific protein 1)
|
|
SNTA1
|
syntrophin, alpha 1
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SPTLC1
|
serine palmitoyltransferase, long chain base subunit 1
|
|
ST20-MTHFS
|
ST20-MTHFS readthrough
|
|
STXBP3
|
syntaxin binding protein 3
|
|
TAC1
|
tachykinin, precursor 1
|
|
TCF4
|
transcription factor 4
|
|
TLR2
|
toll-like receptor 2
|
|
TM7SF2
|
transmembrane 7 superfamily member 2
|
|
TP63
|
tumor protein p63
|
|
TPO
|
thyroid peroxidase
|
|
TPSAB1
|
tryptase alpha/beta 1
|
|
TRDN
|
triadin
|
|
TSPYL1
|
TSPY-like 1
|
|
TTR
|
transthyretin
|
|
TUBB3
|
tubulin, beta 3 class III
|
|
TXN2
|
thioredoxin 2
|
|
UCHL1
|
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VAPB
|
VAMP (vesicle-associated membrane protein)-associated protein B and C
|
|
VPS11
|
vacuolar protein sorting 11 homolog (S. cerevisiae)
|
|
VPS13C
|
vacuolar protein sorting 13 homolog C (S. cerevisiae)
|
|
VPS51
|
vacuolar protein sorting 51 homolog (S. cerevisiae)
|
|
WDR45
|
WD repeat domain 45
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WNK1
|
WNK lysine deficient protein kinase 1
|
|
ZGLP1
|
zinc finger, GATA-like protein 1
|
