| Symbol |
Name |
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ACVRL1
|
activin A receptor type II-like 1
|
|
ADAM17
|
ADAM metallopeptidase domain 17
|
|
AGGF1
|
angiogenic factor with G patch and FHA domains 1
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALDOB
|
aldolase B, fructose-bisphosphate
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
APC
|
adenomatous polyposis coli
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ATOH7
|
atonal homolog 7 (Drosophila)
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
BEST1
|
bestrophin 1
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
CAPN5
|
calpain 5
|
|
CBS
|
cystathionine-beta-synthase
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COL4A2
|
collagen, type IV, alpha 2
|
|
COMT
|
catechol-O-methyltransferase
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CST3
|
cystatin C
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
DNM2
|
dynamin 2
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
DOCK8
|
dedicator of cytokinesis 8
|
|
ENG
|
endoglin
|
|
EOGT
|
EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
|
|
EPCAM
|
epithelial cell adhesion molecule
|
|
F10
|
coagulation factor X
|
|
F13A1
|
coagulation factor XIII, A1 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
|
|
FAH
|
fumarylacetoacetate hydrolase (fumarylacetoacetase)
|
|
FGA
|
fibrinogen alpha chain
|
|
FGB
|
fibrinogen beta chain
|
|
FGG
|
fibrinogen gamma chain
|
|
FN1
|
fibronectin 1
|
|
FZD4
|
frizzled class receptor 4
|
|
GATA2
|
GATA binding protein 2
|
|
GBA
|
glucosidase, beta, acid
|
|
GCDH
|
glutaryl-CoA dehydrogenase
|
|
GDF2
|
growth differentiation factor 2
|
|
GFI1B
|
growth factor independent 1B transcription repressor
|
|
GGCX
|
gamma-glutamyl carboxylase
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GREM1
|
gremlin 1, DAN family BMP antagonist
|
|
HIRA
|
histone cell cycle regulator
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DPB1
|
major histocompatibility complex, class II, DP beta 1
|
|
HPGD
|
hydroxyprostaglandin dehydrogenase 15-(NAD)
|
|
HPS1
|
Hermansky-Pudlak syndrome 1
|
|
HSD3B7
|
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IL10
|
interleukin 10
|
|
IL10RA
|
interleukin 10 receptor, alpha
|
|
IL12RB2
|
interleukin 12 receptor, beta 2
|
|
IL23R
|
interleukin 23 receptor
|
|
ITGA2B
|
integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
|
|
ITGB3
|
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
|
|
IVD
|
isovaleryl-CoA dehydrogenase
|
|
JAK2
|
Janus kinase 2
|
|
KIF1B
|
kinesin family member 1B
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KLLN
|
killin, p53-regulated DNA replication inhibitor
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRIT1
|
KRIT1, ankyrin repeat containing
|
|
LBR
|
lamin B receptor
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LRRFIP2
|
leucine rich repeat (in FLII) interacting protein 2
|
|
LYST
|
lysosomal trafficking regulator
|
|
MEFV
|
Mediterranean fever
|
|
MLH1
|
mutL homolog 1
|
|
MLH3
|
mutL homolog 3
|
|
MPL
|
MPL proto-oncogene, thrombopoietin receptor
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MUT
|
methylmalonyl CoA mutase
|
|
MVK
|
mevalonate kinase
|
|
MYD88
|
myeloid differentiation primary response 88
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOTCH1
|
notch 1
|
|
NOTCH3
|
notch 3
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PDCD10
|
programmed cell death 10
|
|
PDGFRA
|
platelet-derived growth factor receptor, alpha polypeptide
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PLAU
|
plasminogen activator, urokinase
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
PMS1
|
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
PRKCSH
|
protein kinase C substrate 80K-H
|
|
PROC
|
protein C (inactivator of coagulation factors Va and VIIIa)
|
|
PRTN3
|
proteinase 3
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
RB1
|
retinoblastoma 1
|
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
RET
|
ret proto-oncogene
|
|
RHBDF2
|
rhomboid 5 homolog 2 (Drosophila)
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
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)
|
|
SERPINF2
|
serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2
|
|
SH2B3
|
SH2B adaptor protein 3
|
|
SLCO2A1
|
solute carrier organic anion transporter family, member 2A1
|
|
SMAD4
|
SMAD family member 4
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
STK11
|
serine/threonine kinase 11
|
|
TBX1
|
T-box 1
|
|
TEK
|
TEK tyrosine kinase, endothelial
|
|
TET2
|
tet methylcytosine dioxygenase 2
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TLR4
|
toll-like receptor 4
|
|
TNXB
|
tenascin XB
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VWF
|
von Willebrand factor
|
|
WAS
|
Wiskott-Aldrich syndrome
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WIPF1
|
WAS/WASL interacting protein family, member 1
|
