| Symbol |
Name |
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ABHD5
|
abhydrolase domain containing 5
|
|
ACADVL
|
acyl-CoA dehydrogenase, very long chain
|
|
AGTR1
|
angiotensin II receptor, type 1
|
|
AK3
|
adenylate kinase 3
|
|
ALB
|
albumin
|
|
ALDH1A1
|
aldehyde dehydrogenase 1 family, member A1
|
|
APAF1
|
apoptotic peptidase activating factor 1
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARMS2
|
age-related maculopathy susceptibility 2
|
|
ARSA
|
arylsulfatase A
|
|
ASS1
|
argininosuccinate synthase 1
|
|
ATM
|
ATM serine/threonine kinase
|
|
BLNK
|
B-cell linker
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
C4B
|
complement component 4B (Chido blood group)
|
|
C4B_2
|
complement component 4B (Chido blood group), copy 2
|
|
CAPN3
|
calpain 3, (p94)
|
|
CASQ2
|
calsequestrin 2 (cardiac muscle)
|
|
CAT
|
catalase
|
|
CAV3
|
caveolin 3
|
|
CD274
|
CD274 molecule
|
|
CD38
|
CD38 molecule
|
|
CDH1
|
cadherin 1, type 1, E-cadherin (epithelial)
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CEBPA
|
CCAAT/enhancer binding protein (C/EBP), alpha
|
|
CEBPB
|
CCAAT/enhancer binding protein (C/EBP), beta
|
|
CFH
|
complement factor H
|
|
COLEC11
|
collectin sub-family member 11
|
|
CORIN
|
corin, serine peptidase
|
|
COX8A
|
cytochrome c oxidase subunit VIIIA (ubiquitous)
|
|
CPD
|
carboxypeptidase D
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CYB5R3
|
cytochrome b5 reductase 3
|
|
DMD
|
dystrophin
|
|
DOCK8
|
dedicator of cytokinesis 8
|
|
DYSF
|
dysferlin
|
|
EHHADH
|
enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
|
|
ELOVL1
|
ELOVL fatty acid elongase 1
|
|
EMD
|
emerin
|
|
ERN1
|
endoplasmic reticulum to nucleus signaling 1
|
|
F2
|
coagulation factor II (thrombin)
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
F8
|
coagulation factor VIII, procoagulant component
|
|
F9
|
coagulation factor IX
|
|
FAM126A
|
family with sequence similarity 126, member A
|
|
FAM161A
|
family with sequence similarity 161, member A
|
|
FAS
|
Fas cell surface death receptor
|
|
FGF10
|
fibroblast growth factor 10
|
|
FMR1
|
fragile X mental retardation 1
|
|
FXN
|
frataxin
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GFER
|
growth factor, augmenter of liver regeneration
|
|
GNAS
|
GNAS complex locus
|
|
GSR
|
glutathione reductase
|
|
HADH
|
hydroxyacyl-CoA dehydrogenase
|
|
HAPLN4
|
hyaluronan and proteoglycan link protein 4
|
|
HIP1R
|
huntingtin interacting protein 1 related
|
|
IFNG
|
interferon, gamma
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
IL10
|
interleukin 10
|
|
INA
|
internexin neuronal intermediate filament protein, alpha
|
|
INSR
|
insulin receptor
|
|
ISCU
|
iron-sulfur cluster assembly enzyme
|
|
ITK
|
IL2-inducible T-cell kinase
|
|
KL
|
klotho
|
|
KLF1
|
Kruppel-like factor 1 (erythroid)
|
|
LAMP2
|
lysosomal-associated membrane protein 2
|
|
LDLR
|
low density lipoprotein receptor
|
|
LMNA
|
lamin A/C
|
|
LOXL1
|
lysyl oxidase-like 1
|
|
LRBA
|
LPS-responsive vesicle trafficking, beach and anchor containing
|
|
MLH1
|
mutL homolog 1
|
|
MMUT
|
methylmalonyl-CoA mutase
|
|
MRC1
|
mannose receptor, C type 1
|
|
MSH2
|
mutS homolog 2
|
|
MT-CYB
|
cytochrome b
|
|
MTAP
|
methylthioadenosine phosphorylase
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MYOD1
|
myogenic differentiation 1
|
|
NUFIP2
|
nuclear fragile X mental retardation protein interacting protein 2
|
|
OGA
|
O-GlcNAcase
|
|
PDLIM1
|
PDZ and LIM domain 1
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PLP1
|
proteolipid protein 1
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
POLE
|
polymerase (DNA directed), epsilon, catalytic subunit
|
|
PROS1
|
protein S (alpha)
|
|
PRSS22
|
protease, serine, 22
|
|
PTCH1
|
patched 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
REN
|
renin
|
|
SATB2
|
SATB homeobox 2
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SCARB1
|
scavenger receptor class B, member 1
|
|
SGCA
|
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
|
|
SGCG
|
sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC4A1
|
solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
|
|
SMCHD1
|
structural maintenance of chromosomes flexible hinge domain containing 1
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SMN2
|
survival of motor neuron 2, centromeric
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SNURF
|
SNRPN upstream reading frame
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SP110
|
SP110 nuclear body protein
|
|
STAT1
|
signal transducer and activator of transcription 1, 91kDa
|
|
STAT3
|
signal transducer and activator of transcription 3 (acute-phase response factor)
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
STMN1
|
stathmin 1
|
|
SURF1
|
surfeit 1
|
|
TAP2
|
transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
|
|
TM6SF2
|
transmembrane 6 superfamily member 2
|
|
TNNI3K
|
TNNI3 interacting kinase
|
|
TNXB
|
tenascin XB
|
|
TP53
|
tumor protein p53
|
|
TRIM21
|
tripartite motif containing 21
|
|
VCP
|
valosin containing protein
|
|
VPS45
|
vacuolar protein sorting 45 homolog (S. cerevisiae)
|
|
WRN
|
Werner syndrome, RecQ helicase-like
|
|
ZFPM1
|
zinc finger protein, FOG family member 1
|
