| Symbol |
Name |
|
ABCB11
|
ATP-binding cassette, sub-family B (MDR/TAP), member 11
|
|
ABCB4
|
ATP-binding cassette, sub-family B (MDR/TAP), member 4
|
|
ABCB6
|
ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ABCG2
|
ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
|
|
ACAT1
|
acetyl-CoA acetyltransferase 1
|
|
ACE
|
angiotensin I converting enzyme
|
|
ADIPOQ
|
adiponectin, C1Q and collagen domain containing
|
|
ADRA2C
|
adrenoceptor alpha 2C
|
|
ADRB1
|
adrenoceptor beta 1
|
|
ADRB2
|
adrenoceptor beta 2, surface
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
AIRE
|
autoimmune regulator
|
|
ALAS2
|
5'-aminolevulinate synthase 2
|
|
ALOX5
|
arachidonate 5-lipoxygenase
|
|
AMH
|
anti-Mullerian hormone
|
|
AMHR2
|
anti-Mullerian hormone receptor, type II
|
|
AMOTL1
|
angiomotin like 1
|
|
ANXA4
|
annexin A4
|
|
APC
|
adenomatous polyposis coli
|
|
APOB
|
apolipoprotein B
|
|
AR
|
androgen receptor
|
|
ARRB2
|
arrestin, beta 2
|
|
ARSA
|
arylsulfatase A
|
|
ARSB
|
arylsulfatase B
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATP2A2
|
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
|
|
ATP2C1
|
ATPase, Ca++ transporting, type 2C, member 1
|
|
AVPR2
|
arginine vasopressin receptor 2
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BTK
|
Bruton agammaglobulinemia tyrosine kinase
|
|
C11ORF95
|
chromosome 11 open reading frame 95
|
|
C4ORF32
|
chromosome 4 open reading frame 32
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CA2
|
carbonic anhydrase II
|
|
CABLES1
|
Cdk5 and Abl enzyme substrate 1
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CASQ2
|
calsequestrin 2 (cardiac muscle)
|
|
CASR
|
calcium-sensing receptor
|
|
CBFA2T3
|
core-binding factor, runt domain, alpha subunit 2; translocated to, 3
|
|
CBS
|
cystathionine-beta-synthase
|
|
CCL2
|
chemokine (C-C motif) ligand 2
|
|
CCND2
|
cyclin D2
|
|
CCR5
|
chemokine (C-C motif) receptor 5 (gene/pseudogene)
|
|
CD19
|
CD19 molecule
|
|
CD28
|
CD28 molecule
|
|
CD59
|
CD59 molecule, complement regulatory protein
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CDKN1B
|
cyclin-dependent kinase inhibitor 1B (p27, Kip1)
|
|
CEBPA
|
CCAAT/enhancer binding protein (C/EBP), alpha
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHD1
|
chromodomain helicase DNA binding protein 1
|
|
CHRM2
|
cholinergic receptor, muscarinic 2
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
CHST6
|
carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
|
|
CHUK
|
conserved helix-loop-helix ubiquitous kinase
|
|
CIB1
|
calcium and integrin binding 1 (calmyrin)
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CLN6
|
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
|
|
CLSPN
|
claspin
|
|
CMIP
|
c-Maf inducing protein
|
|
COL4A5
|
collagen, type IV, alpha 5
|
|
COL8A1
|
collagen, type VIII, alpha 1
|
|
COLQ
|
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
|
|
COMT
|
catechol-O-methyltransferase
|
|
CREBBP
|
CREB binding protein
|
|
CSTB
|
cystatin B (stefin B)
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CXCR4
|
chemokine (C-X-C motif) receptor 4
|
|
CYBB
|
cytochrome b-245, beta polypeptide
|
|
CYP1A1
|
cytochrome P450, family 1, subfamily A, polypeptide 1
|
|
CYP1B1
|
cytochrome P450, family 1, subfamily B, polypeptide 1
|
|
CYP2A13
|
cytochrome P450, family 2, subfamily A, polypeptide 13
|
|
CYP2B6
|
cytochrome P450, family 2, subfamily B, polypeptide 6
|
|
CYP2D6
|
cytochrome P450, family 2, subfamily D, polypeptide 6
|
|
CYP2J2
|
cytochrome P450, family 2, subfamily J, polypeptide 2
|
|
CYP3A
|
cytochrome P450, family 3, subfamily A
|
|
CYSLTR2
|
cysteinyl leukotriene receptor 2
|
|
DCAF4L2
|
DDB1 and CUL4 associated factor 4-like 2
|
|
DCLK1
|
doublecortin-like kinase 1
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DNASE1L3
|
deoxyribonuclease I-like 3
|
|
DNM2
|
dynamin 2
|
|
DRD3
|
dopamine receptor D3
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
DYSF
|
dysferlin
|
|
EDA
|
ectodysplasin A
|
|
EFTUD2
|
elongation factor Tu GTP binding domain containing 2
|
|
EGFR
|
epidermal growth factor receptor
|
|
ENG
|
endoglin
|
|
ERBB2
|
erb-b2 receptor tyrosine kinase 2
|
|
ESR1
|
estrogen receptor 1
|
|
ESR2
|
estrogen receptor 2 (ER beta)
|
|
EVI5
|
ecotropic viral integration site 5
|
|
F13A1
|
coagulation factor XIII, A1 polypeptide
|
|
F13B
|
coagulation factor XIII, B polypeptide
|
|
F2
|
coagulation factor II (thrombin)
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
F7
|
coagulation factor VII (serum prothrombin conversion accelerator)
|
|
F8
|
coagulation factor VIII, procoagulant component
|
|
F9
|
coagulation factor IX
|
|
FAM69A
|
family with sequence similarity 69, member A
|
|
FAS
|
Fas cell surface death receptor
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FBN1
|
fibrillin 1
|
|
FBXO11
|
F-box protein 11
|
|
FCGR3A
|
Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
|
|
FERMT1
|
fermitin family member 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FH
|
fumarate hydratase
|
|
FILIP1L
|
filamin A interacting protein 1-like
|
|
FLG
|
filaggrin
|
|
FOLR1
|
folate receptor 1 (adult)
|
|
FOXA2
|
forkhead box A2
|
|
FOXE1
|
forkhead box E1
|
|
FOXF1
|
forkhead box F1
|
|
FSHR
|
follicle stimulating hormone receptor
|
|
FTO
|
fat mass and obesity associated
|
|
FZD4
|
frizzled class receptor 4
|
|
GAD1
|
glutamate decarboxylase 1 (brain, 67kDa)
|
|
GAD2
|
glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
|
|
GADD45G
|
growth arrest and DNA-damage-inducible, gamma
|
|
GBP5
|
guanylate binding protein 5
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GDF9
|
growth differentiation factor 9
|
|
GFI1
|
growth factor independent 1 transcription repressor
|
|
GLI1
|
GLI family zinc finger 1
|
|
GLUL
|
glutamate-ammonia ligase
|
|
GNAI1
|
guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1
|
|
GNAS
|
GNAS complex locus
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
GP6
|
glycoprotein VI (platelet)
|
|
GPM6B
|
glycoprotein M6B
|
|
GPR143
|
G protein-coupled receptor 143
|
|
GRIK2
|
glutamate receptor, ionotropic, kainate 2
|
|
GRIN1
|
glutamate receptor, ionotropic, N-methyl D-aspartate 1
|
|
GRM8
|
glutamate receptor, metabotropic 8
|
|
HAMP
|
hepcidin antimicrobial peptide
|
|
HAX1
|
HCLS1 associated protein X-1
|
|
HBB
|
hemoglobin, beta
|
|
HBD
|
hemoglobin, delta
|
|
HDAC4
|
histone deacetylase 4
|
|
HEXA
|
hexosaminidase A (alpha polypeptide)
|
|
HHEX
|
hematopoietically expressed homeobox
|
|
HLA-A
|
major histocompatibility complex, class I, A
|
|
HLA-DPB1
|
major histocompatibility complex, class II, DP beta 1
|
|
HLA-DQB1
|
major histocompatibility complex, class II, DQ beta 1
|
|
HLCS
|
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
|
|
HMGA2
|
high mobility group AT-hook 2
|
|
HNF1A
|
HNF1 homeobox A
|
|
HNF4A
|
hepatocyte nuclear factor 4, alpha
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSP90AB1
|
heat shock protein 90kDa alpha (cytosolic), class B member 1
|
|
IBSP
|
integrin-binding sialoprotein
|
|
ICMT
|
isoprenylcysteine carboxyl methyltransferase
|
|
ICOS
|
inducible T-cell co-stimulator
|
|
IGFBP7
|
insulin-like growth factor binding protein 7
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
IL10
|
interleukin 10
|
|
IL2
|
interleukin 2
|
|
IL4
|
interleukin 4
|
|
IRAK3
|
interleukin-1 receptor-associated kinase 3
|
|
ITGB1
|
integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
|
|
ITGB2
|
integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
|
|
JAK2
|
Janus kinase 2
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KCNJ6
|
potassium channel, inwardly rectifying subfamily J, member 6
|
|
KIAA0196
|
KIAA0196
|
|
KIR3DL1
|
killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT12
|
keratin 12, type I
|
|
KRT14
|
keratin 14, type I
|
|
KRT3
|
keratin 3, type II
|
|
KRT5
|
keratin 5, type II
|
|
LCT
|
lactase
|
|
LDLR
|
low density lipoprotein receptor
|
|
LGALS3
|
lectin, galactoside-binding, soluble, 3
|
|
LHB
|
luteinizing hormone beta polypeptide
|
|
LMNA
|
lamin A/C
|
|
LRRFIP1
|
leucine rich repeat (in FLII) interacting protein 1
|
|
LTA
|
lymphotoxin alpha
|
|
MAT1A
|
methionine adenosyltransferase I, alpha
|
|
MBTPS1
|
membrane-bound transcription factor peptidase, site 1
|
|
MC1R
|
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
|
|
MCCC1
|
methylcrotonoyl-CoA carboxylase 1 (alpha)
|
|
MCCC2
|
methylcrotonoyl-CoA carboxylase 2 (beta)
|
|
MICB
|
MHC class I polypeptide-related sequence B
|
|
MKL2
|
MKL/myocardin-like 2
|
|
MLH1
|
mutL homolog 1
|
|
MLH3
|
mutL homolog 3
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
MMP14
|
matrix metallopeptidase 14 (membrane-inserted)
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MMP21
|
matrix metallopeptidase 21
|
|
MMP9
|
matrix metallopeptidase 9
|
|
MOV10
|
Mov10 RISC complex RNA helicase
|
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
|
MRE11A
|
MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MT1B
|
metallothionein 1B
|
|
MT1E
|
metallothionein 1E
|
|
MT1G
|
metallothionein 1G
|
|
MT1H
|
metallothionein 1H
|
|
MT1L
|
metallothionein 1L (gene/pseudogene)
|
|
MT2A
|
metallothionein 2A
|
|
MUTYH
|
mutY homolog
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
MYOC
|
myocilin, trabecular meshwork inducible glucocorticoid response
|
|
NAT2
|
N-acetyltransferase 2 (arylamine N-acetyltransferase)
|
|
NAV3
|
neuron navigator 3
|
|
NCF2
|
neutrophil cytosolic factor 2
|
|
NEB
|
nebulin
|
|
NEFL
|
neurofilament, light polypeptide
|
|
NEUROG3
|
neurogenin 3
|
|
NFKB1
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOS1AP
|
nitric oxide synthase 1 (neuronal) adaptor protein
|
|
NOTCH1
|
notch 1
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NRG1
|
neuregulin 1
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NTN1
|
netrin 1
|
|
NYX
|
nyctalopin
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
PAX7
|
paired box 7
|
|
PC
|
pyruvate carboxylase
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PEX12
|
peroxisomal biogenesis factor 12
|
|
PGAP3
|
post-GPI attachment to proteins 3
|
|
PGR
|
progesterone receptor
|
|
PIGR
|
polymeric immunoglobulin receptor
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PKLR
|
pyruvate kinase, liver and RBC
|
|
PLA2G4D
|
phospholipase A2, group IVD (cytosolic)
|
|
PLAG1
|
pleiomorphic adenoma gene 1
|
|
PLP1
|
proteolipid protein 1
|
|
POU3F4
|
POU class 3 homeobox 4
|
|
PRKCSH
|
protein kinase C substrate 80K-H
|
|
PROM1
|
prominin 1
|
|
PSMD10
|
proteasome (prosome, macropain) 26S subunit, non-ATPase, 10
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTGIR
|
prostaglandin I2 (prostacyclin) receptor (IP)
|
|
PTPRD
|
protein tyrosine phosphatase, receptor type, D
|
|
RAB11FIP1
|
RAB11 family interacting protein 1 (class I)
|
|
RB1
|
retinoblastoma 1
|
|
RBFOX3
|
RNA binding protein, fox-1 homolog (C. elegans) 3
|
|
RET
|
ret proto-oncogene
|
|
RGS1
|
regulator of G-protein signaling 1
|
|
RGS2
|
regulator of G-protein signaling 2
|
|
RGS5
|
regulator of G-protein signaling 5
|
|
RHO
|
rhodopsin
|
|
RLBP1
|
retinaldehyde binding protein 1
|
|
RPL21P7
|
ribosomal protein L21 pseudogene 7
|
|
RPL5
|
ribosomal protein L5
|
|
RTN4
|
reticulon 4
|
|
RTN4R
|
reticulon 4 receptor
|
|
SACK1H
|
scaffolding CK1 anchoring protein H
|
|
SAR1B
|
secretion associated, Ras related GTPase 1B
|
|
SCGB3A1
|
secretoglobin, family 3A, member 1
|
|
SCNN1B
|
sodium channel, non voltage gated 1 beta subunit
|
|
SCNN1G
|
sodium channel, non voltage gated 1 gamma subunit
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SEC63
|
SEC63 homolog (S. cerevisiae)
|
|
SECISBP2
|
SECIS binding protein 2
|
|
SELP
|
selectin P (granule membrane protein 140kDa, antigen CD62)
|
|
SEPT12
|
septin 12
|
|
SHH
|
sonic hedgehog
|
|
SIRT5
|
sirtuin 5
|
|
SLC1A2
|
solute carrier family 1 (glial high affinity glutamate transporter), member 2
|
|
SLC25A13
|
solute carrier family 25 (aspartate/glutamate carrier), member 13
|
|
SLC35A3
|
solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SLCO1B1
|
solute carrier organic anion transporter family, member 1B1
|
|
SMARCA2
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SOD2
|
superoxide dismutase 2, mitochondrial
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SPAST
|
spastin
|
|
SPRED1
|
sprouty-related, EVH1 domain containing 1
|
|
SRCAP
|
Snf2-related CREBBP activator protein
|
|
SRD5A2
|
steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
|
|
STAT1
|
signal transducer and activator of transcription 1, 91kDa
|
|
STK11
|
serine/threonine kinase 11
|
|
SULT1A3
|
sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3
|
|
TBC1D3
|
TBC1 domain family, member 3
|
|
TBC1D3F
|
TBC1 domain family, member 3F
|
|
TBX1
|
T-box 1
|
|
TBX5
|
T-box 5
|
|
TCF7L2
|
transcription factor 7-like 2 (T-cell specific, HMG-box)
|
|
TH
|
tyrosine hydroxylase
|
|
THADA
|
thyroid adenoma associated
|
|
THBD
|
thrombomodulin
|
|
TIMP1
|
TIMP metallopeptidase inhibitor 1
|
|
TIMP2
|
TIMP metallopeptidase inhibitor 2
|
|
TNF
|
tumor necrosis factor
|
|
TNFSF10
|
tumor necrosis factor (ligand) superfamily, member 10
|
|
TNFSF13
|
tumor necrosis factor (ligand) superfamily, member 13
|
|
TP53
|
tumor protein p53
|
|
TPH2
|
tryptophan hydroxylase 2
|
|
TRABD2A
|
TraB domain containing 2A
|
|
TRPM4
|
transient receptor potential cation channel, subfamily M, member 4
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TRRAP
|
transformation/transcription domain-associated protein
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSN
|
translin
|
|
UMOD
|
uromodulin
|
|
UROD
|
uroporphyrinogen decarboxylase
|
|
USH1G
|
Usher syndrome 1G (autosomal recessive)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VWF
|
von Willebrand factor
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WT1
|
Wilms tumor 1
|
