| Symbol |
Name |
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ABL1
|
ABL proto-oncogene 1, non-receptor tyrosine kinase
|
|
ACTN4
|
actinin, alpha 4
|
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
ADH1B
|
alcohol dehydrogenase 1B (class I), beta polypeptide
|
|
AKR1B1
|
aldo-keto reductase family 1, member B1 (aldose reductase)
|
|
ALDH2
|
aldehyde dehydrogenase 2 family (mitochondrial)
|
|
APOA4
|
apolipoprotein A-IV
|
|
BAP1
|
BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
CA1
|
carbonic anhydrase I
|
|
CA2
|
carbonic anhydrase II
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CASR
|
calcium-sensing receptor
|
|
CAV3
|
caveolin 3
|
|
CCR5
|
chemokine (C-C motif) receptor 5 (gene/pseudogene)
|
|
CD46
|
CD46 molecule, complement regulatory protein
|
|
CFH
|
complement factor H
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CISD1
|
CDGSH iron sulfur domain 1
|
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
|
COMP
|
cartilage oligomeric matrix protein
|
|
CRYAA
|
crystallin, alpha A
|
|
CRYGD
|
crystallin, gamma D
|
|
CYP21A2
|
cytochrome P450, family 21, subfamily A, polypeptide 2
|
|
DCN
|
decorin
|
|
DISC1
|
disrupted in schizophrenia 1
|
|
DMD
|
dystrophin
|
|
EIF2B5
|
eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
|
|
EPHX1
|
epoxide hydrolase 1, microsomal (xenobiotic)
|
|
F2
|
coagulation factor II (thrombin)
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
F8
|
coagulation factor VIII, procoagulant component
|
|
FAS
|
Fas cell surface death receptor
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGG
|
fibrinogen gamma chain
|
|
G6PD
|
glucose-6-phosphate dehydrogenase
|
|
GALNT3
|
polypeptide N-acetylgalactosaminyltransferase 3
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GBA
|
glucosidase, beta, acid
|
|
GDF15
|
growth differentiation factor 15
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GLA
|
galactosidase, alpha
|
|
GNAS
|
GNAS complex locus
|
|
GP1BA
|
glycoprotein Ib (platelet), alpha polypeptide
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
HBB
|
hemoglobin, beta
|
|
HLA-A
|
major histocompatibility complex, class I, A
|
|
HOXB3
|
homeobox B3
|
|
HOXD3
|
homeobox D3
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HTR2A
|
5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
|
|
IGF2
|
insulin-like growth factor 2
|
|
IL10RA
|
interleukin 10 receptor, alpha
|
|
IL10RB
|
interleukin 10 receptor, beta
|
|
INF2
|
inverted formin, FH2 and WH2 domain containing
|
|
INS
|
insulin
|
|
INSR
|
insulin receptor
|
|
IRF6
|
interferon regulatory factor 6
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
LAMA3
|
laminin, alpha 3
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
MAOA
|
monoamine oxidase A
|
|
MAPT
|
microtubule-associated protein tau
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
MYOC
|
myocilin, trabecular meshwork inducible glucocorticoid response
|
|
NFKBIA
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NOS1AP
|
nitric oxide synthase 1 (neuronal) adaptor protein
|
|
NPHS1
|
nephrosis 1, congenital, Finnish type (nephrin)
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PAX3
|
paired box 3
|
|
PITX2
|
paired-like homeodomain 2
|
|
PLP1
|
proteolipid protein 1
|
|
PRRX1
|
paired related homeobox 1
|
|
PTGES2
|
prostaglandin E synthase 2
|
|
RAMP2
|
receptor (G protein-coupled) activity modifying protein 2
|
|
RAMP3
|
receptor (G protein-coupled) activity modifying protein 3
|
|
RB1
|
retinoblastoma 1
|
|
RETN
|
resistin
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SGCE
|
sarcoglycan, epsilon
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC34A3
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
|
|
SLC40A1
|
solute carrier family 40 (iron-regulated transporter), member 1
|
|
SLC4A1
|
solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SPAST
|
spastin
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
STX16
|
syntaxin 16
|
|
SULT1A1
|
sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1
|
|
TAZ
|
tafazzin
|
|
TF
|
transferrin
|
|
TG
|
thyroglobulin
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
THRB
|
thyroid hormone receptor, beta
|
|
TNFSF10
|
tumor necrosis factor (ligand) superfamily, member 10
|
|
TOR1A
|
torsin family 1, member A (torsin A)
|
|
TP53
|
tumor protein p53
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UNC13D
|
unc-13 homolog D (C. elegans)
|
|
VWF
|
von Willebrand factor
|
|
XRCC1
|
X-ray repair complementing defective repair in Chinese hamster cells 1
|
|
YWHAE
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
|
