| Symbol |
Name |
|
ACE
|
angiotensin I converting enzyme
|
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
ADM
|
adrenomedullin
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
APOBEC3B
|
apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B
|
|
APOE
|
apolipoprotein E
|
|
BBS2
|
Bardet-Biedl syndrome 2
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CHM
|
choroideremia (Rab escort protein 1)
|
|
COL5A1
|
collagen, type V, alpha 1
|
|
COL5A2
|
collagen, type V, alpha 2
|
|
CRP
|
C-reactive protein, pentraxin-related
|
|
CYP21A2
|
cytochrome P450, family 21, subfamily A, polypeptide 2
|
|
DCX
|
doublecortin
|
|
DGKH
|
diacylglycerol kinase, eta
|
|
DMD
|
dystrophin
|
|
DNAH1
|
dynein, axonemal, heavy chain 1
|
|
DNAH5
|
dynein, axonemal, heavy chain 5
|
|
DNAI1
|
dynein, axonemal, intermediate chain 1
|
|
FBN1
|
fibrillin 1
|
|
FERMT3
|
fermitin family member 3
|
|
FGF23
|
fibroblast growth factor 23
|
|
FMR1
|
fragile X mental retardation 1
|
|
GAA
|
glucosidase, alpha; acid
|
|
GBA
|
glucosidase, beta, acid
|
|
HFE
|
hemochromatosis
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HLA-DRB5
|
major histocompatibility complex, class II, DR beta 5
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HTR1A
|
5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled
|
|
HTT
|
huntingtin
|
|
IFNL3
|
interferon, lambda 3
|
|
IL1B
|
interleukin 1, beta
|
|
IL24
|
interleukin 24
|
|
IL6
|
interleukin 6
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KCNV2
|
potassium channel, voltage gated modifier subfamily V, member 2
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LMNA
|
lamin A/C
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
MAPT
|
microtubule-associated protein tau
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MPO
|
myeloperoxidase
|
|
MSH2
|
mutS homolog 2
|
|
MTM1
|
myotubularin 1
|
|
NDEL1
|
nudE neurodevelopment protein 1-like 1
|
|
NOS1AP
|
nitric oxide synthase 1 (neuronal) adaptor protein
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
NR3C1
|
nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
|
|
NR5A1
|
nuclear receptor subfamily 5, group A, member 1
|
|
NRGN
|
neurogranin (protein kinase C substrate, RC3)
|
|
OPTN
|
optineurin
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PEBP1
|
phosphatidylethanolamine binding protein 1
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PKD1
|
polycystic kidney disease 1 (autosomal dominant)
|
|
PTGS2
|
prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
|
|
PTX3
|
pentraxin 3, long
|
|
RB1
|
retinoblastoma 1
|
|
ROBO1
|
roundabout, axon guidance receptor, homolog 1 (Drosophila)
|
|
S100B
|
S100 calcium binding protein B
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SLC6A4
|
solute carrier family 6 (neurotransmitter transporter), member 4
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SPAST
|
spastin
|
|
SPR
|
sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
|
|
THAP1
|
THAP domain containing, apoptosis associated protein 1
|
|
THBD
|
thrombomodulin
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TNF
|
tumor necrosis factor
|
|
TNFRSF13C
|
tumor necrosis factor receptor superfamily, member 13C
|
|
TNFSF13B
|
tumor necrosis factor (ligand) superfamily, member 13b
|
|
TTN
|
titin
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
