| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
ABCA1
|
ATP-binding cassette, sub-family A (ABC1), member 1
|
|
ACE
|
angiotensin I converting enzyme
|
|
ACTC1
|
actin, alpha, cardiac muscle 1
|
|
ADCY5
|
adenylate cyclase 5
|
|
ADCY8
|
adenylate cyclase 8 (brain)
|
|
AGTR1
|
angiotensin II receptor, type 1
|
|
ALG8
|
ALG8, alpha-1,3-glucosyltransferase
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
APOE
|
apolipoprotein E
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
APTX
|
aprataxin
|
|
AR
|
androgen receptor
|
|
ATP13A2
|
ATPase type 13A2
|
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
|
ATP2A1
|
ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
|
|
ATP2A2
|
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATXN2
|
ataxin 2
|
|
ATXN7
|
ataxin 7
|
|
AXIN2
|
axin 2
|
|
BEST1
|
bestrophin 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CCDC88C
|
coiled-coil domain containing 88C
|
|
CCL5
|
chemokine (C-C motif) ligand 5
|
|
CHM
|
choroideremia (Rab escort protein 1)
|
|
CLOCK
|
clock circadian regulator
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
CP
|
ceruloplasmin (ferroxidase)
|
|
CRH
|
corticotropin releasing hormone
|
|
CRP
|
C-reactive protein, pentraxin-related
|
|
CSH1
|
chorionic somatomammotropin hormone 1 (placental lactogen)
|
|
CXCL8
|
chemokine (C-X-C motif) ligand 8
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
DMD
|
dystrophin
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DNASE1
|
deoxyribonuclease I
|
|
EGR2
|
early growth response 2
|
|
FABP3
|
fatty acid binding protein 3, muscle and heart
|
|
FANCG
|
Fanconi anemia, complementation group G
|
|
FBN1
|
fibrillin 1
|
|
FBXO7
|
F-box protein 7
|
|
FKRP
|
fukutin related protein
|
|
FLG
|
filaggrin
|
|
FLT3
|
fms-related tyrosine kinase 3
|
|
GAA
|
glucosidase, alpha; acid
|
|
GAD2
|
glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
|
|
GALC
|
galactosylceramidase
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GFAP
|
glial fibrillary acidic protein
|
|
GHR
|
growth hormone receptor
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GNB3
|
guanine nucleotide binding protein (G protein), beta polypeptide 3
|
|
GPR143
|
G protein-coupled receptor 143
|
|
GRP
|
gastrin-releasing peptide
|
|
GZMB
|
granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
|
|
HECW1
|
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
IFN1@
|
interferon, type 1, cluster
|
|
IL6
|
interleukin 6
|
|
INHBA
|
inhibin, beta A
|
|
INSL3
|
insulin-like 3 (Leydig cell)
|
|
KCNH2
|
potassium channel, voltage gated eag related subfamily H, member 2
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
KL
|
klotho
|
|
LMNB1
|
lamin B1
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
MAPT
|
microtubule-associated protein tau
|
|
MET
|
MET proto-oncogene, receptor tyrosine kinase
|
|
MIF
|
macrophage migration inhibitory factor (glycosylation-inhibiting factor)
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MMP28
|
matrix metallopeptidase 28
|
|
MMP9
|
matrix metallopeptidase 9
|
|
MPZ
|
myelin protein zero
|
|
MT-TL1
|
tRNA
|
|
MTMR1
|
myotubularin related protein 1
|
|
MX1
|
MX dynamin-like GTPase 1
|
|
MYOC
|
myocilin, trabecular meshwork inducible glucocorticoid response
|
|
NEFL
|
neurofilament, light polypeptide
|
|
NHS
|
Nance-Horan syndrome (congenital cataracts and dental anomalies)
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NOTCH1
|
notch 1
|
|
NPM1
|
nucleophosmin (nucleolar phosphoprotein B23, numatrin)
|
|
NPPB
|
natriuretic peptide B
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
PAX6
|
paired box 6
|
|
PDIA3
|
protein disulfide isomerase family A, member 3
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLAC1
|
placenta-specific 1
|
|
PMM2
|
phosphomannomutase 2
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PRNP
|
prion protein
|
|
PSEN1
|
presenilin 1
|
|
PTPRC
|
protein tyrosine phosphatase, receptor type, C
|
|
RARB
|
retinoic acid receptor, beta
|
|
RHO
|
rhodopsin
|
|
S100A4
|
S100 calcium binding protein A4
|
|
S100B
|
S100 calcium binding protein B
|
|
SCNN1B
|
sodium channel, non voltage gated 1 beta subunit
|
|
SELP
|
selectin P (granule membrane protein 140kDa, antigen CD62)
|
|
SERPINE1
|
serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
|
|
SHBG
|
sex hormone-binding globulin
|
|
SHOX
|
short stature homeobox
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SPAST
|
spastin
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
TARDBP
|
TAR DNA binding protein
|
|
TCF7L2
|
transcription factor 7-like 2 (T-cell specific, HMG-box)
|
|
TERT
|
telomerase reverse transcriptase
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGFB2
|
transforming growth factor, beta 2
|
|
TGM3
|
transglutaminase 3
|
|
THAP1
|
THAP domain containing, apoptosis associated protein 1
|
|
TNF
|
tumor necrosis factor
|
|
TNNT1
|
troponin T type 1 (skeletal, slow)
|
|
TOP1
|
topoisomerase (DNA) I
|
|
TOP2A
|
topoisomerase (DNA) II alpha 170kDa
|
|
TOR1A
|
torsin family 1, member A (torsin A)
|
|
TP53
|
tumor protein p53
|
|
TTR
|
transthyretin
|
|
UCN
|
urocortin
|
|
UGT1A1
|
UDP glucuronosyltransferase 1 family, polypeptide A1
|
|
WNT10A
|
wingless-type MMTV integration site family, member 10A
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
