| Symbol |
Name |
|
A2ML1
|
alpha-2-macroglobulin-like 1
|
|
ABCA1
|
ATP-binding cassette, sub-family A (ABC1), member 1
|
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ABCD4
|
ATP-binding cassette, sub-family D (ALD), member 4
|
|
ABCG5
|
ATP-binding cassette, sub-family G (WHITE), member 5
|
|
ABCG8
|
ATP-binding cassette, sub-family G (WHITE), member 8
|
|
ACAD9
|
acyl-CoA dehydrogenase family, member 9
|
|
ACTA2
|
actin, alpha 2, smooth muscle, aorta
|
|
ACTB
|
actin, beta
|
|
ACTG1
|
actin gamma 1
|
|
ACVR2B
|
activin A receptor, type IIB
|
|
ACVRL1
|
activin A receptor type II-like 1
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
ADK
|
adenosine kinase
|
|
AGGF1
|
angiogenic factor with G patch and FHA domains 1
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AGXT
|
alanine-glyoxylate aminotransferase
|
|
AIPL1
|
aryl hydrocarbon receptor interacting protein-like 1
|
|
AIRE
|
autoimmune regulator
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
AKT2
|
v-akt murine thymoma viral oncogene homolog 2
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
ANTXR1
|
anthrax toxin receptor 1
|
|
APOA1
|
apolipoprotein A-I
|
|
APOB
|
apolipoprotein B
|
|
APOE
|
apolipoprotein E
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ARL2BP
|
ADP-ribosylation factor-like 2 binding protein
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ASS1
|
argininosuccinate synthase 1
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B3GAT3
|
beta-1,3-glucuronyltransferase 3
|
|
BANF1
|
barrier to autointegration factor 1
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCR
|
breakpoint cluster region
|
|
BEST1
|
bestrophin 1
|
|
BMPR2
|
bone morphogenetic protein receptor, type II (serine/threonine kinase)
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
BUB1
|
BUB1 mitotic checkpoint serine/threonine kinase
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
BUB3
|
BUB3 mitotic checkpoint protein
|
|
C12ORF57
|
chromosome 12 open reading frame 57
|
|
C2ORF71
|
chromosome 2 open reading frame 71
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
C8ORF37
|
chromosome 8 open reading frame 37
|
|
CA4
|
carbonic anhydrase IV
|
|
CACNA1D
|
calcium channel, voltage-dependent, L type, alpha 1D subunit
|
|
CALR
|
calreticulin
|
|
CAPN5
|
calpain 5
|
|
CASP10
|
caspase 10, apoptosis-related cysteine peptidase
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CBS
|
cystathionine-beta-synthase
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CCDC22
|
coiled-coil domain containing 22
|
|
CCDC8
|
coiled-coil domain containing 8
|
|
CCM2
|
cerebral cavernous malformation 2
|
|
CCR6
|
chemokine (C-C motif) receptor 6
|
|
CD19
|
CD19 molecule
|
|
CD81
|
CD81 molecule
|
|
CDHR1
|
cadherin-related family member 1
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CERKL
|
ceramide kinase-like
|
|
CFI
|
complement factor I
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
CIRH1A
|
cirrhosis, autosomal recessive 1A (cirhin)
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CLCNKB
|
chloride channel, voltage-sensitive Kb
|
|
CLDN1
|
claudin 1
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
CLRN1
|
clarin 1
|
|
CNGA1
|
cyclic nucleotide gated channel alpha 1
|
|
CNGB1
|
cyclic nucleotide gated channel beta 1
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COL4A2
|
collagen, type IV, alpha 2
|
|
COL5A1
|
collagen, type V, alpha 1
|
|
COL5A2
|
collagen, type V, alpha 2
|
|
COMT
|
catechol-O-methyltransferase
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
COX7B
|
cytochrome c oxidase subunit VIIb
|
|
CPS1
|
carbamoyl-phosphate synthase 1, mitochondrial
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CR2
|
complement component (3d/Epstein Barr virus) receptor 2
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CREBBP
|
CREB binding protein
|
|
CRELD1
|
cysteine-rich with EGF-like domains 1
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
CRTAP
|
cartilage associated protein
|
|
CRX
|
cone-rod homeobox
|
|
CST3
|
cystatin C
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTGF
|
connective tissue growth factor
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CTSA
|
cathepsin A
|
|
CUL7
|
cullin 7
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
DGUOK
|
deoxyguanosine kinase
|
|
DHCR24
|
24-dehydrocholesterol reductase
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DHDDS
|
dehydrodolichyl diphosphate synthase
|
|
DIS3L2
|
DIS3 like 3'-5' exoribonuclease 2
|
|
DLL3
|
delta-like 3 (Drosophila)
|
|
DNASE1L3
|
deoxyribonuclease I-like 3
|
|
DNM2
|
dynamin 2
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
DOCK8
|
dedicator of cytokinesis 8
|
|
DPM1
|
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
|
|
DSE
|
dermatan sulfate epimerase
|
|
DUX4
|
double homeobox 4
|
|
DYRK1B
|
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B
|
|
EFEMP2
|
EGF containing fibulin-like extracellular matrix protein 2
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
EIF2AK4
|
eukaryotic translation initiation factor 2 alpha kinase 4
|
|
ELN
|
elastin
|
|
ENG
|
endoglin
|
|
ENPP1
|
ectonucleotide pyrophosphatase/phosphodiesterase 1
|
|
EOGT
|
EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
|
|
EPOR
|
erythropoietin receptor
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
ETHE1
|
ethylmalonic encephalopathy 1
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EXT2
|
exostosin glycosyltransferase 2
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
F10
|
coagulation factor X
|
|
F13A1
|
coagulation factor XIII, A1 polypeptide
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
F7
|
coagulation factor VII (serum prothrombin conversion accelerator)
|
|
FADD
|
Fas (TNFRSF6)-associated via death domain
|
|
FAM161A
|
family with sequence similarity 161, member A
|
|
FAM58A
|
family with sequence similarity 58, member A
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCB
|
Fanconi anemia, complementation group B
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FANCE
|
Fanconi anemia, complementation group E
|
|
FANCF
|
Fanconi anemia, complementation group F
|
|
FANCG
|
Fanconi anemia, complementation group G
|
|
FANCI
|
Fanconi anemia, complementation group I
|
|
FANCL
|
Fanconi anemia, complementation group L
|
|
FANCM
|
Fanconi anemia, complementation group M
|
|
FAS
|
Fas cell surface death receptor
|
|
FASLG
|
Fas ligand (TNF superfamily, member 6)
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FBLN5
|
fibulin 5
|
|
FBN1
|
fibrillin 1
|
|
FBN2
|
fibrillin 2
|
|
FGA
|
fibrinogen alpha chain
|
|
FGB
|
fibrinogen beta chain
|
|
FGF23
|
fibroblast growth factor 23
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FGG
|
fibrinogen gamma chain
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
FLT4
|
fms-related tyrosine kinase 4
|
|
FMR1
|
fragile X mental retardation 1
|
|
FN1
|
fibronectin 1
|
|
FNBP4
|
formin binding protein 4
|
|
FOS
|
FBJ murine osteosarcoma viral oncogene homolog
|
|
FOXC1
|
forkhead box C1
|
|
FOXC2
|
forkhead box C2
|
|
FOXF1
|
forkhead box F1
|
|
FRG1
|
FSHD region gene 1
|
|
FSCN2
|
fascin actin-bundling protein 2, retinal
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
FZD4
|
frizzled class receptor 4
|
|
G6PC3
|
glucose 6 phosphatase, catalytic, 3
|
|
GAA
|
glucosidase, alpha; acid
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GALNT3
|
polypeptide N-acetylgalactosaminyltransferase 3
|
|
GATA2
|
GATA binding protein 2
|
|
GATA4
|
GATA binding protein 4
|
|
GATA6
|
GATA binding protein 6
|
|
GBA
|
glucosidase, beta, acid
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GCDH
|
glutaryl-CoA dehydrogenase
|
|
GDF1
|
growth differentiation factor 1
|
|
GDF2
|
growth differentiation factor 2
|
|
GGCX
|
gamma-glutamyl carboxylase
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GLA
|
galactosidase, alpha
|
|
GLB1
|
galactosidase, beta 1
|
|
GLI3
|
GLI family zinc finger 3
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GPC6
|
glypican 6
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
GUCA1B
|
guanylate cyclase activator 1B (retina)
|
|
GUCY1A3
|
guanylate cyclase 1, soluble, alpha 3
|
|
GUSB
|
glucuronidase, beta
|
|
HBB
|
hemoglobin, beta
|
|
HCCS
|
holocytochrome c synthase
|
|
HDAC4
|
histone deacetylase 4
|
|
HES7
|
hes family bHLH transcription factor 7
|
|
HGD
|
homogentisate 1,2-dioxygenase
|
|
HIRA
|
histone cell cycle regulator
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DPB1
|
major histocompatibility complex, class II, DP beta 1
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HNF1B
|
HNF1 homeobox B
|
|
HOXA1
|
homeobox A1
|
|
HOXD13
|
homeobox D13
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
HTRA1
|
HtrA serine peptidase 1
|
|
ICOS
|
inducible T-cell co-stimulator
|
|
IDH1
|
isocitrate dehydrogenase 1 (NADP+), soluble
|
|
IDH2
|
isocitrate dehydrogenase 2 (NADP+), mitochondrial
|
|
IDH3B
|
isocitrate dehydrogenase 3 (NAD+) beta
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IFT43
|
intraflagellar transport 43
|
|
IGHV4-34
|
immunoglobulin heavy variable 4-34
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IL10
|
interleukin 10
|
|
IL12B
|
interleukin 12B
|
|
IL12RB2
|
interleukin 12 receptor, beta 2
|
|
IL23R
|
interleukin 23 receptor
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
IMPG2
|
interphotoreceptor matrix proteoglycan 2
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
IRF5
|
interferon regulatory factor 5
|
|
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
|
|
JAG1
|
jagged 1
|
|
JAK2
|
Janus kinase 2
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNJ5
|
potassium channel, inwardly rectifying subfamily J, member 5
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KDR
|
kinase insert domain receptor
|
|
KIAA0196
|
KIAA0196
|
|
KIAA0319L
|
KIAA0319-like
|
|
KIF1B
|
kinesin family member 1B
|
|
KIZ
|
kizuna centrosomal protein
|
|
KL
|
klotho
|
|
KLHL7
|
kelch-like family member 7
|
|
KLLN
|
killin, p53-regulated DNA replication inhibitor
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRIT1
|
KRIT1, ankyrin repeat containing
|
|
KRT71
|
keratin 71, type II
|
|
KRT74
|
keratin 74, type II
|
|
LCAT
|
lecithin-cholesterol acyltransferase
|
|
LDLRAP1
|
low density lipoprotein receptor adaptor protein 1
|
|
LEMD3
|
LEM domain containing 3
|
|
LFNG
|
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
|
|
LHX1
|
LIM homeobox 1
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LIMK1
|
LIM domain kinase 1
|
|
LIPA
|
lipase A, lysosomal acid, cholesterol esterase
|
|
LIPC
|
lipase, hepatic
|
|
LIPH
|
lipase, member H
|
|
LMNA
|
lamin A/C
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
LPA
|
lipoprotein, Lp(a)
|
|
LPAR6
|
lysophosphatidic acid receptor 6
|
|
LPIN2
|
lipin 2
|
|
LPL
|
lipoprotein lipase
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LRBA
|
LPS-responsive vesicle trafficking, beach and anchor containing
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LTBP4
|
latent transforming growth factor beta binding protein 4
|
|
MAK
|
male germ cell-associated kinase
|
|
MAMLD1
|
mastermind-like domain containing 1
|
|
MANBA
|
mannosidase, beta A, lysosomal
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MASP1
|
mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
|
|
MCCC1
|
methylcrotonoyl-CoA carboxylase 1 (alpha)
|
|
MCCC2
|
methylcrotonoyl-CoA carboxylase 2 (beta)
|
|
MED12
|
mediator complex subunit 12
|
|
MEFV
|
Mediterranean fever
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
MESP2
|
mesoderm posterior basic helix-loop-helix transcription factor 2
|
|
MGAT2
|
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
|
|
MGP
|
matrix Gla protein
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MLX
|
MLX, MAX dimerization protein
|
|
MNX1
|
motor neuron and pancreas homeobox 1
|
|
MPL
|
MPL proto-oncogene, thrombopoietin receptor
|
|
MS4A1
|
membrane-spanning 4-domains, subfamily A, member 1
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MT-TF
|
tRNA
|
|
MT-TH
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MTM1
|
myotubularin 1
|
|
MUT
|
methylmalonyl CoA mutase
|
|
MVK
|
mevalonate kinase
|
|
MYD88
|
myeloid differentiation primary response 88
|
|
MYH11
|
myosin, heavy chain 11, smooth muscle
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
MYLK
|
myosin light chain kinase
|
|
MYOC
|
myocilin, trabecular meshwork inducible glucocorticoid response
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
ND1
|
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NEK2
|
NIMA-related kinase 2
|
|
NF1
|
neurofibromin 1
|
|
NF2
|
neurofibromin 2 (merlin)
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NFKB2
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
|
|
NFU1
|
NFU1 iron-sulfur cluster scaffold
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NMNAT1
|
nicotinamide nucleotide adenylyltransferase 1
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOTCH1
|
notch 1
|
|
NOTCH2
|
notch 2
|
|
NOTCH3
|
notch 3
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NPC2
|
Niemann-Pick disease, type C2
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
NR2F2
|
nuclear receptor subfamily 2, group F, member 2
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NRL
|
neural retina leucine zipper
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
NT5E
|
5'-nucleotidase, ecto (CD73)
|
|
OBSL1
|
obscurin-like 1
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OTC
|
ornithine carbamoyltransferase
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PAX6
|
paired box 6
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PCNA
|
proliferating cell nuclear antigen
|
|
PCNT
|
pericentrin
|
|
PDCD10
|
programmed cell death 10
|
|
PDE6A
|
phosphodiesterase 6A, cGMP-specific, rod, alpha
|
|
PDE6B
|
phosphodiesterase 6B, cGMP-specific, rod, beta
|
|
PDE6G
|
phosphodiesterase 6G, cGMP-specific, rod, gamma
|
|
PDSS1
|
prenyl (decaprenyl) diphosphate synthase, subunit 1
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIGM
|
phosphatidylinositol glycan anchor biosynthesis, class M
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3R2
|
phosphoinositide-3-kinase, regulatory subunit 2 (beta)
|
|
PKD1
|
polycystic kidney disease 1 (autosomal dominant)
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
PKP2
|
plakophilin 2
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
PLOD3
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
|
|
PMM2
|
phosphomannomutase 2
|
|
PNP
|
purine nucleoside phosphorylase
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PPP1R3A
|
protein phosphatase 1, regulatory subunit 3A
|
|
PRCD
|
progressive rod-cone degeneration
|
|
PRDM16
|
PR domain containing 16
|
|
PRKAG2
|
protein kinase, AMP-activated, gamma 2 non-catalytic subunit
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRKCD
|
protein kinase C, delta
|
|
PRKCSH
|
protein kinase C substrate 80K-H
|
|
PRKG1
|
protein kinase, cGMP-dependent, type I
|
|
PROC
|
protein C (inactivator of coagulation factors Va and VIIIa)
|
|
PROM1
|
prominin 1
|
|
PROS1
|
protein S (alpha)
|
|
PRPF3
|
pre-mRNA processing factor 3
|
|
PRPF31
|
pre-mRNA processing factor 31
|
|
PRPF4
|
pre-mRNA processing factor 4
|
|
PRPF6
|
pre-mRNA processing factor 6
|
|
PRPF8
|
pre-mRNA processing factor 8
|
|
PRPH2
|
peripherin 2 (retinal degeneration, slow)
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRTN3
|
proteinase 3
|
|
PTCH1
|
patched 1
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
RAD51C
|
RAD51 paralog C
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RASA1
|
RAS p21 protein activator (GTPase activating protein) 1
|
|
RBM10
|
RNA binding motif protein 10
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RBP3
|
retinol binding protein 3, interstitial
|
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
RECQL4
|
RecQ protein-like 4
|
|
RET
|
ret proto-oncogene
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RGR
|
retinal G protein coupled receptor
|
|
RHO
|
rhodopsin
|
|
RIT1
|
Ras-like without CAAX 1
|
|
RLBP1
|
retinaldehyde binding protein 1
|
|
RNF213
|
ring finger protein 213
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
ROM1
|
retinal outer segment membrane protein 1
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RP1
|
retinitis pigmentosa 1 (autosomal dominant)
|
|
RP2
|
retinitis pigmentosa 2 (X-linked recessive)
|
|
RP9
|
retinitis pigmentosa 9 (autosomal dominant)
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RPS19
|
ribosomal protein S19
|
|
RYR2
|
ryanodine receptor 2 (cardiac)
|
|
SAG
|
S-antigen; retina and pineal gland (arrestin)
|
|
SARS2
|
seryl-tRNA synthetase 2, mitochondrial
|
|
SC5D
|
sterol-C5-desaturase
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
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
|
|
SEC23A
|
Sec23 homolog A (S. cerevisiae)
|
|
SEC63
|
SEC63 homolog (S. cerevisiae)
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SEMA4A
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
|
|
SERPIND1
|
serpin peptidase inhibitor, clade D (heparin cofactor), member 1
|
|
SETBP1
|
SET binding protein 1
|
|
SETX
|
senataxin
|
|
SFTPA2
|
surfactant protein A2
|
|
SFTPB
|
surfactant protein B
|
|
SH2B3
|
SH2B adaptor protein 3
|
|
SHOC2
|
soc-2 suppressor of clear homolog (C. elegans)
|
|
SKI
|
SKI proto-oncogene
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC20A2
|
solute carrier family 20 (phosphate transporter), member 2
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC2A10
|
solute carrier family 2 (facilitated glucose transporter), member 10
|
|
SLC37A4
|
solute carrier family 37 (glucose-6-phosphate transporter), member 4
|
|
SLC7A14
|
solute carrier family 7, member 14
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMAD3
|
SMAD family member 3
|
|
SMAD4
|
SMAD family member 4
|
|
SMAD6
|
SMAD family member 6
|
|
SMAD9
|
SMAD family member 9
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SMCHD1
|
structural maintenance of chromosomes flexible hinge domain containing 1
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SNAI2
|
snail family zinc finger 2
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
SNRNP200
|
small nuclear ribonucleoprotein 200kDa (U5)
|
|
SNX10
|
sorting nexin 10
|
|
SOS1
|
son of sevenless homolog 1 (Drosophila)
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX18
|
SRY (sex determining region Y)-box 18
|
|
SPATA7
|
spermatogenesis associated 7
|
|
SRCAP
|
Snf2-related CREBBP activator protein
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
STAT3
|
signal transducer and activator of transcription 3 (acute-phase response factor)
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
STIM1
|
stromal interaction molecule 1
|
|
STRA6
|
stimulated by retinoic acid 6
|
|
TAB2
|
TGF-beta activated kinase 1/MAP3K7 binding protein 2
|
|
TALDO1
|
transaldolase 1
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TBX2
|
T-box 2
|
|
TBX20
|
T-box 20
|
|
TBX4
|
T-box 4
|
|
TBX5
|
T-box 5
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TEK
|
TEK tyrosine kinase, endothelial
|
|
TET2
|
tet methylcytosine dioxygenase 2
|
|
TGFB2
|
transforming growth factor, beta 2
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
THPO
|
thrombopoietin
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TJP2
|
tight junction protein 2
|
|
TLR4
|
toll-like receptor 4
|
|
TMEM67
|
transmembrane protein 67
|
|
TNFRSF13B
|
tumor necrosis factor receptor superfamily, member 13B
|
|
TNFRSF13C
|
tumor necrosis factor receptor superfamily, member 13C
|
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TNFSF12
|
tumor necrosis factor (ligand) superfamily, member 12
|
|
TNXB
|
tenascin XB
|
|
TOPORS
|
topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
|
|
TP53
|
tumor protein p53
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TTR
|
transthyretin
|
|
TUB
|
tubby bipartite transcription factor
|
|
TULP1
|
tubby like protein 1
|
|
UBE3B
|
ubiquitin protein ligase E3B
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
VWF
|
von Willebrand factor
|
|
WAS
|
Wiskott-Aldrich syndrome
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WIPF1
|
WAS/WASL interacting protein family, member 1
|
|
WNT3
|
wingless-type MMTV integration site family, member 3
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
WRN
|
Werner syndrome, RecQ helicase-like
|
|
WT1
|
Wilms tumor 1
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
|
ZNF513
|
zinc finger protein 513
|
