| Symbol |
Name |
|
ABCA3
|
ATP-binding cassette, sub-family A (ABC1), member 3
|
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ACBD5
|
acyl-CoA binding domain containing 5
|
|
ACE
|
angiotensin I converting enzyme
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ACTA2
|
actin, alpha 2, smooth muscle, aorta
|
|
ACTG1
|
actin gamma 1
|
|
ACTG2
|
actin, gamma 2, smooth muscle, enteric
|
|
ACTN1
|
actinin, alpha 1
|
|
ACVR1
|
activin A receptor, type I
|
|
ADAM17
|
ADAM metallopeptidase domain 17
|
|
ADAM9
|
ADAM metallopeptidase domain 9
|
|
ADAMTSL4
|
ADAMTS-like 4
|
|
ADCY5
|
adenylate cyclase 5
|
|
ADD1
|
adducin 1 (alpha)
|
|
ADRA2B
|
adrenoceptor alpha 2B
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AGT
|
angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
|
|
AGTR1
|
angiotensin II receptor, type 1
|
|
AIRE
|
autoimmune regulator
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
AKT2
|
v-akt murine thymoma viral oncogene homolog 2
|
|
ALG3
|
ALG3, alpha-1,3- mannosyltransferase
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ALOX12B
|
arachidonate 12-lipoxygenase, 12R type
|
|
ALOXE3
|
arachidonate lipoxygenase 3
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
ANGPTL3
|
angiopoietin-like 3
|
|
ANKH
|
ANKH inorganic pyrophosphate transport regulator
|
|
ANO10
|
anoctamin 10
|
|
ANOS1
|
anosmin 1
|
|
AP2B1
|
adaptor-related protein complex 2, beta 1 subunit
|
|
AP2S1
|
adaptor-related protein complex 2, sigma 1 subunit
|
|
AP4E1
|
adaptor-related protein complex 4, epsilon 1 subunit
|
|
APC
|
adenomatous polyposis coli
|
|
APOB
|
apolipoprotein B
|
|
APOE
|
apolipoprotein E
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
AQP2
|
aquaporin 2 (collecting duct)
|
|
ARMC5
|
armadillo repeat containing 5
|
|
ASPM
|
asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
|
|
ATF2
|
activating transcription factor 2
|
|
ATL1
|
atlastin GTPase 1
|
|
ATP13A2
|
ATPase type 13A2
|
|
ATP6V0A2
|
ATPase, H+ transporting, lysosomal V0 subunit a2
|
|
ATP6V0A4
|
ATPase, H+ transporting, lysosomal V0 subunit a4
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
ATXN1
|
ataxin 1
|
|
ATXN2
|
ataxin 2
|
|
ATXN3
|
ataxin 3
|
|
AVP
|
arginine vasopressin
|
|
AVPR2
|
arginine vasopressin receptor 2
|
|
B2M
|
beta-2-microglobulin
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BBS1
|
Bardet-Biedl syndrome 1
|
|
BEST1
|
bestrophin 1
|
|
BFSP1
|
beaded filament structural protein 1, filensin
|
|
BIN1
|
bridging integrator 1
|
|
BMP1
|
bone morphogenetic protein 1
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
BSND
|
barttin CLCNK-type chloride channel accessory beta subunit
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C1QTNF5
|
C1q and tumor necrosis factor related protein 5
|
|
C8ORF37
|
chromosome 8 open reading frame 37
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CABP4
|
calcium binding protein 4
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNA1C
|
calcium channel, voltage-dependent, L type, alpha 1C subunit
|
|
CAPN5
|
calpain 5
|
|
CARD14
|
caspase recruitment domain family, member 14
|
|
CARD9
|
caspase recruitment domain family, member 9
|
|
CASQ2
|
calsequestrin 2 (cardiac muscle)
|
|
CASR
|
calcium-sensing receptor
|
|
CAV3
|
caveolin 3
|
|
CBX4
|
chromobox homolog 4
|
|
CC2D1A
|
coiled-coil and C2 domain containing 1A
|
|
CCDC88C
|
coiled-coil domain containing 88C
|
|
CCT5
|
chaperonin containing TCP1, subunit 5 (epsilon)
|
|
CD36
|
CD36 molecule (thrombospondin receptor)
|
|
CD4
|
CD4 molecule
|
|
CD8A
|
CD8a molecule
|
|
CDH23
|
cadherin-related 23
|
|
CDHR1
|
cadherin-related family member 1
|
|
CDK5RAP2
|
CDK5 regulatory subunit associated protein 2
|
|
CDKL3
|
cyclin-dependent kinase-like 3
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CELIAC2
|
celiac disease 2
|
|
CENPJ
|
centromere protein J
|
|
CERKL
|
ceramide kinase-like
|
|
CFAP53
|
cilia and flagella associated protein 53
|
|
CFHR5
|
complement factor H-related 5
|
|
CHMP2B
|
charged multivesicular body protein 2B
|
|
CHN1
|
chimerin 1
|
|
CHRFAM7A
|
CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion
|
|
CHRNA2
|
cholinergic receptor, nicotinic, alpha 2 (neuronal)
|
|
CHRNA4
|
cholinergic receptor, nicotinic, alpha 4 (neuronal)
|
|
CHRNB2
|
cholinergic receptor, nicotinic, beta 2 (neuronal)
|
|
CHUK
|
conserved helix-loop-helix ubiquitous kinase
|
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CLDN16
|
claudin 16
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
CNGA1
|
cyclic nucleotide gated channel alpha 1
|
|
COCH
|
cochlin
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COL4A3
|
collagen, type IV, alpha 3 (Goodpasture antigen)
|
|
COL4A3BP
|
collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
|
|
COL4A4
|
collagen, type IV, alpha 4
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
COL8A2
|
collagen, type VIII, alpha 2
|
|
COL9A1
|
collagen, type IX, alpha 1
|
|
COL9A2
|
collagen, type IX, alpha 2
|
|
CPA6
|
carboxypeptidase A6
|
|
CPT1A
|
carnitine palmitoyltransferase 1A (liver)
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CRB2
|
crumbs family member 2
|
|
CRH
|
corticotropin releasing hormone
|
|
CRX
|
cone-rod homeobox
|
|
CRYAA
|
crystallin, alpha A
|
|
CRYAB
|
crystallin, alpha B
|
|
CRYBA1
|
crystallin, beta A1
|
|
CRYBB1
|
crystallin, beta B1
|
|
CRYBB2
|
crystallin, beta B2
|
|
CRYBB3
|
crystallin, beta B3
|
|
CRYGB
|
crystallin, gamma B
|
|
CRYGC
|
crystallin, gamma C
|
|
CRYGD
|
crystallin, gamma D
|
|
CSF1R
|
colony stimulating factor 1 receptor
|
|
CSF3R
|
colony stimulating factor 3 receptor (granulocyte)
|
|
CTSK
|
cathepsin K
|
|
CXCR2
|
chemokine (C-X-C motif) receptor 2
|
|
CXCR4
|
chemokine (C-X-C motif) receptor 4
|
|
CYBA
|
cytochrome b-245, alpha polypeptide
|
|
CYP11B1
|
cytochrome P450, family 11, subfamily B, polypeptide 1
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
CYP1B1
|
cytochrome P450, family 1, subfamily B, polypeptide 1
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
DAZL
|
deleted in azoospermia-like
|
|
DDHD2
|
DDHD domain containing 2
|
|
DEPDC5
|
DEP domain containing 5
|
|
DES
|
desmin
|
|
DFNA5
|
deafness, autosomal dominant 5
|
|
DFNA53
|
deafness, autosomal dominant 53
|
|
DFNB55
|
deafness, autosomal recessive 55
|
|
DFNB59
|
deafness, autosomal recessive 59
|
|
DFNY1
|
deafness, Y-linked 1
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DKK3
|
dickkopf WNT signaling pathway inhibitor 3
|
|
DMP1
|
dentin matrix acidic phosphoprotein 1
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DNAJB2
|
DnaJ (Hsp40) homolog, subfamily B, member 2
|
|
DNAJC5
|
DnaJ (Hsp40) homolog, subfamily C, member 5
|
|
DNASE1L3
|
deoxyribonuclease I-like 3
|
|
DNM2
|
dynamin 2
|
|
DNMT1
|
DNA (cytosine-5-)-methyltransferase 1
|
|
DOCK8
|
dedicator of cytokinesis 8
|
|
DOLK
|
dolichol kinase
|
|
DSC2
|
desmocollin 2
|
|
DSG4
|
desmoglein 4
|
|
DSP
|
desmoplakin
|
|
DST
|
dystonin
|
|
DUOX2
|
dual oxidase 2
|
|
DYM
|
dymeclin
|
|
DYSF
|
dysferlin
|
|
DYT13
|
dystonia 13, torsion
|
|
DYT17
|
dystonia 17
|
|
EDA
|
ectodysplasin A
|
|
EDAR
|
ectodysplasin A receptor
|
|
EDNRA
|
endothelin receptor type A
|
|
EDNRB
|
endothelin receptor type B
|
|
EFEMP1
|
EGF containing fibulin-like extracellular matrix protein 1
|
|
EGFR
|
epidermal growth factor receptor
|
|
ELN
|
elastin
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
ENAM
|
enamelin
|
|
EPHA2
|
EPH receptor A2
|
|
ERLIN2
|
ER lipid raft associated 2
|
|
ETFDH
|
electron-transferring-flavoprotein dehydrogenase
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
FAM161A
|
family with sequence similarity 161, member A
|
|
FAM20A
|
family with sequence similarity 20, member A
|
|
FAM46A
|
family with sequence similarity 46, member A
|
|
FBN1
|
fibrillin 1
|
|
FBXO31
|
F-box protein 31
|
|
FECH
|
ferrochelatase
|
|
FGA
|
fibrinogen alpha chain
|
|
FGD4
|
FYVE, RhoGEF and PH domain containing 4
|
|
FGF14
|
fibroblast growth factor 14
|
|
FGF23
|
fibroblast growth factor 23
|
|
FGF3
|
fibroblast growth factor 3
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FH
|
fumarate hydratase
|
|
FLNC
|
filamin C, gamma
|
|
FOS
|
FBJ murine osteosarcoma viral oncogene homolog
|
|
FOXC1
|
forkhead box C1
|
|
FOXD3
|
forkhead box D3
|
|
FOXP2
|
forkhead box P2
|
|
FOXP3
|
forkhead box P3
|
|
FRG2
|
FSHD region gene 2
|
|
FSCN2
|
fascin actin-bundling protein 2, retinal
|
|
FTCD
|
formimidoyltransferase cyclodeaminase
|
|
FTL
|
ferritin, light polypeptide
|
|
FUS
|
FUS RNA binding protein
|
|
FXN
|
frataxin
|
|
FZD4
|
frizzled class receptor 4
|
|
G6PC3
|
glucose 6 phosphatase, catalytic, 3
|
|
GABRA1
|
gamma-aminobutyric acid (GABA) A receptor, alpha 1
|
|
GALK1
|
galactokinase 1
|
|
GATA2
|
GATA binding protein 2
|
|
GATA6
|
GATA binding protein 6
|
|
GATAD1
|
GATA zinc finger domain containing 1
|
|
GBA
|
glucosidase, beta, acid
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GCDH
|
glutaryl-CoA dehydrogenase
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GCM2
|
glial cells missing homolog 2 (Drosophila)
|
|
GCNT2
|
glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GFAP
|
glial fibrillary acidic protein
|
|
GFER
|
growth factor, augmenter of liver regeneration
|
|
GH1
|
growth hormone 1
|
|
GHR
|
growth hormone receptor
|
|
GIGYF2
|
GRB10 interacting GYF protein 2
|
|
GINGF3
|
gingival fibromatosis, hereditary, 3
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJA3
|
gap junction protein, alpha 3, 46kDa
|
|
GJA8
|
gap junction protein, alpha 8, 50kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB3
|
gap junction protein, beta 3, 31kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GLI3
|
GLI family zinc finger 3
|
|
GLRA1
|
glycine receptor, alpha 1
|
|
GNA11
|
guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
|
|
GNAS
|
GNAS complex locus
|
|
GNAT1
|
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
|
|
GNB1
|
guanine nucleotide binding protein (G protein), beta polypeptide 1
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
GNRHR
|
gonadotropin-releasing hormone receptor
|
|
GPSM2
|
G-protein signaling modulator 2
|
|
GRIK2
|
glutamate receptor, ionotropic, kainate 2
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
GSS
|
glutathione synthetase
|
|
GUCA1A
|
guanylate cyclase activator 1A (retina)
|
|
GUCA1B
|
guanylate cyclase activator 1B (retina)
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
H2AFY
|
H2A histone family, member Y
|
|
HAX1
|
HCLS1 associated protein X-1
|
|
HCRT
|
hypocretin (orexin) neuropeptide precursor
|
|
HFE
|
hemochromatosis
|
|
HINT1
|
histidine triad nucleotide binding protein 1
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HMHA1
|
histocompatibility (minor) HA-1
|
|
HNF1A
|
HNF1 homeobox A
|
|
HNF1B
|
HNF1 homeobox B
|
|
HNF4A
|
hepatocyte nuclear factor 4, alpha
|
|
HOXA2
|
homeobox A2
|
|
HPGD
|
hydroxyprostaglandin dehydrogenase 15-(NAD)
|
|
HPSE2
|
heparanase 2 (inactive)
|
|
HR
|
hair growth associated
|
|
HSD3B7
|
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
|
|
HSF4
|
heat shock transcription factor 4
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
HTRA1
|
HtrA serine peptidase 1
|
|
HTRA2
|
HtrA serine peptidase 2
|
|
IFNGR1
|
interferon gamma receptor 1
|
|
IFNGR2
|
interferon gamma receptor 2 (interferon gamma transducer 1)
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IHH
|
indian hedgehog
|
|
IL12RB1
|
interleukin 12 receptor, beta 1
|
|
IL17A
|
interleukin 17A
|
|
IL1RN
|
interleukin 1 receptor antagonist
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
INF2
|
inverted formin, FH2 and WH2 domain containing
|
|
ITGA6
|
integrin, alpha 6
|
|
ITGB3
|
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
|
|
ITGB6
|
integrin, beta 6
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
JAK3
|
Janus kinase 3
|
|
JUN
|
jun proto-oncogene
|
|
KCNA1
|
potassium channel, voltage gated shaker related subfamily A, member 1
|
|
KCNC3
|
potassium channel, voltage gated Shaw related subfamily C, member 3
|
|
KCND3
|
potassium channel, voltage gated Shal related subfamily D, member 3
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
KCNQ2
|
potassium channel, voltage gated KQT-like subfamily Q, member 2
|
|
KCNQ3
|
potassium channel, voltage gated KQT-like subfamily Q, member 3
|
|
KCNQ4
|
potassium channel, voltage gated KQT-like subfamily Q, member 4
|
|
KERA
|
keratocan
|
|
KIAA1033
|
KIAA1033
|
|
KIF1A
|
kinesin family member 1A
|
|
KIF5A
|
kinesin family member 5A
|
|
KISS1R
|
KISS1 receptor
|
|
KL
|
klotho
|
|
KLHL7
|
kelch-like family member 7
|
|
KLHL9
|
kelch-like family member 9
|
|
KLK4
|
kallikrein-related peptidase 4
|
|
KRT10
|
keratin 10, type I
|
|
KRT17
|
keratin 17, type I
|
|
KRT5
|
keratin 5, type II
|
|
KRT71
|
keratin 71, type II
|
|
KRT74
|
keratin 74, type II
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
LAMA2
|
laminin, alpha 2
|
|
LBR
|
lamin B receptor
|
|
LDLR
|
low density lipoprotein receptor
|
|
LDLRAP1
|
low density lipoprotein receptor adaptor protein 1
|
|
LGI1
|
leucine-rich, glioma inactivated 1
|
|
LHFPL5
|
lipoma HMGIC fusion partner-like 5
|
|
LHX5
|
LIM homeobox 5
|
|
LIM2
|
lens intrinsic membrane protein 2, 19kDa
|
|
LIPA
|
lipase A, lysosomal acid, cholesterol esterase
|
|
LIPH
|
lipase, member H
|
|
LMNA
|
lamin A/C
|
|
LMNB1
|
lamin B1
|
|
LOXHD1
|
lipoxygenase homology domains 1
|
|
LPA
|
lipoprotein, Lp(a)
|
|
LPAR6
|
lysophosphatidic acid receptor 6
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
LY6E
|
lymphocyte antigen 6 complex, locus E
|
|
MAF
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
|
|
MAK
|
male germ cell-associated kinase
|
|
MAPT
|
microtubule-associated protein tau
|
|
MARS2
|
methionyl-tRNA synthetase 2, mitochondrial
|
|
MARVELD2
|
MARVEL domain containing 2
|
|
MASTL
|
microtubule associated serine/threonine kinase-like
|
|
MAT1A
|
methionine adenosyltransferase I, alpha
|
|
MC3R
|
melanocortin 3 receptor
|
|
MC4R
|
melanocortin 4 receptor
|
|
MCDR3
|
macular dystrophy, retinal 3
|
|
MDH1
|
malate dehydrogenase 1, NAD (soluble)
|
|
MED23
|
mediator complex subunit 23
|
|
MEF2A
|
myocyte enhancer factor 2A
|
|
MEFV
|
Mediterranean fever
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
METTL23
|
methyltransferase like 23
|
|
MFN2
|
mitofusin 2
|
|
MFRP
|
membrane frizzled-related protein
|
|
MFSD8
|
major facilitator superfamily domain containing 8
|
|
MIP
|
major intrinsic protein of lens fiber
|
|
MNX1
|
motor neuron and pancreas homeobox 1
|
|
MRE11A
|
MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
|
|
MSX1
|
msh homeobox 1
|
|
MTM1
|
myotubularin 1
|
|
MTOR
|
mechanistic target of rapamycin (serine/threonine kinase)
|
|
MUTYH
|
mutY homolog
|
|
MYBPC1
|
myosin binding protein C, slow type
|
|
MYH11
|
myosin, heavy chain 11, smooth muscle
|
|
MYH14
|
myosin, heavy chain 14, non-muscle
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
MYL2
|
myosin, light chain 2, regulatory, cardiac, slow
|
|
MYO15A
|
myosin XVA
|
|
MYO1A
|
myosin IA
|
|
MYO1E
|
myosin IE
|
|
MYO6
|
myosin VI
|
|
MYO7A
|
myosin VIIA
|
|
MYOC
|
myocilin, trabecular meshwork inducible glucocorticoid response
|
|
MYOT
|
myotilin
|
|
MYP12
|
myopia 12 (high grade, autosomal dominant)
|
|
MYP2
|
myopia 2 (high grade, autosomal dominant)
|
|
NADK2
|
NAD kinase 2, mitochondrial
|
|
NAGS
|
N-acetylglutamate synthase
|
|
NCF1
|
neutrophil cytosolic factor 1
|
|
NCF2
|
neutrophil cytosolic factor 2
|
|
NCF4
|
neutrophil cytosolic factor 4, 40kDa
|
|
NDE1
|
nudE neurodevelopment protein 1
|
|
NEDD4L
|
neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
|
|
NEIL1
|
nei endonuclease VIII-like 1 (E. coli)
|
|
NEUROG1
|
neurogenin 1
|
|
NF2
|
neurofibromin 2 (merlin)
|
|
NIPA1
|
non imprinted in Prader-Willi/Angelman syndrome 1
|
|
NIPAL4
|
NIPA-like domain containing 4
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NOBOX
|
NOBOX oogenesis homeobox
|
|
NOG
|
noggin
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
NOS3
|
nitric oxide synthase 3 (endothelial cell)
|
|
NOTCH3
|
notch 3
|
|
NPC1L1
|
NPC1-like 1
|
|
NPHS2
|
nephrosis 2, idiopathic, steroid-resistant (podocin)
|
|
NPPA
|
natriuretic peptide A
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
NR3C2
|
nuclear receptor subfamily 3, group C, member 2
|
|
NR4A2
|
nuclear receptor subfamily 4, group A, member 2
|
|
NRL
|
neural retina leucine zipper
|
|
NTRK1
|
neurotrophic tyrosine kinase, receptor, type 1
|
|
OCA2
|
oculocutaneous albinism II
|
|
OGDH
|
oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
OPA3
|
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
|
|
OPN1LW
|
opsin 1 (cone pigments), long-wave-sensitive
|
|
OPN1MW
|
opsin 1 (cone pigments), medium-wave-sensitive
|
|
OSTM1
|
osteopetrosis associated transmembrane protein 1
|
|
OTOA
|
otoancorin
|
|
OTOF
|
otoferlin
|
|
OTX2
|
orthodenticle homeobox 2
|
|
P3H1
|
prolyl 3-hydroxylase 1
|
|
PABPC1P2
|
poly(A) binding protein, cytoplasmic 1 pseudogene 2
|
|
PABPN1
|
poly(A) binding protein, nuclear 1
|
|
PAH
|
phenylalanine hydroxylase
|
|
PAPSS2
|
3'-phosphoadenosine 5'-phosphosulfate synthase 2
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PARK7
|
parkinson protein 7
|
|
PARL
|
presenilin associated, rhomboid-like
|
|
PAX6
|
paired box 6
|
|
PAX9
|
paired box 9
|
|
PCSK9
|
proprotein convertase subtilisin/kexin type 9
|
|
PDE6B
|
phosphodiesterase 6B, cGMP-specific, rod, beta
|
|
PDE6C
|
phosphodiesterase 6C, cGMP-specific, cone, alpha prime
|
|
PDK2
|
pyruvate dehydrogenase kinase, isozyme 2
|
|
PDYN
|
prodynorphin
|
|
PFN1
|
profilin 1
|
|
PGM3
|
phosphoglucomutase 3
|
|
PHOX2B
|
paired-like homeobox 2b
|
|
PI4K2A
|
phosphatidylinositol 4-kinase type 2 alpha
|
|
PIGT
|
phosphatidylinositol glycan anchor biosynthesis, class T
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PITPNM3
|
PITPNM family member 3
|
|
PITX2
|
paired-like homeodomain 2
|
|
PKD1
|
polycystic kidney disease 1 (autosomal dominant)
|
|
PKD2
|
polycystic kidney disease 2 (autosomal dominant)
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLCB4
|
phospholipase C, beta 4
|
|
PLCD1
|
phospholipase C, delta 1
|
|
PLCE1
|
phospholipase C, epsilon 1
|
|
PLCZ1
|
phospholipase C, zeta 1
|
|
PLEC
|
plectin
|
|
PLEKHG4
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 4
|
|
PLIN2
|
perilipin 2
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
PMP22
|
peripheral myelin protein 22
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
PNKD
|
paroxysmal nonkinesigenic dyskinesia
|
|
PNPLA1
|
patatin-like phospholipase domain containing 1
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
PODXL
|
podocalyxin-like
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLG2
|
polymerase (DNA directed), gamma 2, accessory subunit
|
|
POLRMT
|
polymerase (RNA) mitochondrial (DNA directed)
|
|
POSTN
|
periostin, osteoblast specific factor
|
|
POU2F1
|
POU class 2 homeobox 1
|
|
POU4F3
|
POU class 4 homeobox 3
|
|
PPP2R2B
|
protein phosphatase 2, regulatory subunit B, beta
|
|
PRKAG2
|
protein kinase, AMP-activated, gamma 2 non-catalytic subunit
|
|
PRKCG
|
protein kinase C, gamma
|
|
PRKCSH
|
protein kinase C substrate 80K-H
|
|
PRKX
|
protein kinase, X-linked
|
|
PRNP
|
prion protein
|
|
PROK2
|
prokineticin 2
|
|
PROKR2
|
prokineticin receptor 2
|
|
PROM1
|
prominin 1
|
|
PRPF3
|
pre-mRNA processing factor 3
|
|
PRPF31
|
pre-mRNA processing factor 31
|
|
PRPF4
|
pre-mRNA processing factor 4
|
|
PRPF8
|
pre-mRNA processing factor 8
|
|
PRPH2
|
peripherin 2 (retinal degeneration, slow)
|
|
PRSS1
|
protease, serine, 1 (trypsin 1)
|
|
PRSS12
|
protease, serine, 12 (neurotrypsin, motopsin)
|
|
PRX
|
periaxin
|
|
PSEN1
|
presenilin 1
|
|
PSEN2
|
presenilin 2
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
PTK2B
|
protein tyrosine kinase 2 beta
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
|
PYGM
|
phosphorylase, glycogen, muscle
|
|
RAB33B
|
RAB33B, member RAS oncogene family
|
|
RAB7A
|
RAB7A, member RAS oncogene family
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RB1
|
retinoblastoma 1
|
|
RBP3
|
retinol binding protein 3, interstitial
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
REEP1
|
receptor accessory protein 1
|
|
REN
|
renin
|
|
RHO
|
rhodopsin
|
|
RIMS1
|
regulating synaptic membrane exocytosis 1
|
|
RNASET2
|
ribonuclease T2
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RP1
|
retinitis pigmentosa 1 (autosomal dominant)
|
|
RP9
|
retinitis pigmentosa 9 (autosomal dominant)
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RSPO4
|
R-spondin 4
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SACK1H
|
scaffolding CK1 anchoring protein H
|
|
SACS
|
sacsin molecular chaperone
|
|
SAG
|
S-antigen; retina and pineal gland (arrestin)
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SAMHD1
|
SAM domain and HD domain 1
|
|
SAX1
|
spastic ataxia 1 (autosomal dominant)
|
|
SCN1B
|
sodium channel, voltage gated, type I beta subunit
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SCN8A
|
sodium channel, voltage gated, type VIII alpha subunit
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SCNN1A
|
sodium channel, non voltage gated 1 alpha subunit
|
|
SCNN1B
|
sodium channel, non voltage gated 1 beta subunit
|
|
SCNN1G
|
sodium channel, non voltage gated 1 gamma subunit
|
|
SCO2
|
SCO2 cytochrome c oxidase assembly protein
|
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
|
SEC63
|
SEC63 homolog (S. cerevisiae)
|
|
SEPN1
|
selenoprotein N, 1
|
|
SERPINA1
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
|
|
SERPING1
|
serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
|
|
SETX
|
senataxin
|
|
SGCE
|
sarcoglycan, epsilon
|
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
|
SIGMAR1
|
sigma non-opioid intracellular receptor 1
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC1A1
|
solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC2A10
|
solute carrier family 2 (facilitated glucose transporter), member 10
|
|
SLC35A1
|
solute carrier family 35 (CMP-sialic acid transporter), member A1
|
|
SLC39A4
|
solute carrier family 39 (zinc transporter), member 4
|
|
SLC40A1
|
solute carrier family 40 (iron-regulated transporter), member 1
|
|
SLC45A2
|
solute carrier family 45, member 2
|
|
SLC4A1
|
solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
|
|
SLC4A11
|
solute carrier family 4, sodium borate transporter, member 11
|
|
SLC4A4
|
solute carrier family 4 (sodium bicarbonate cotransporter), member 4
|
|
SLC5A5
|
solute carrier family 5 (sodium/iodide cotransporter), member 5
|
|
SMAD3
|
SMAD family member 3
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SNRNP200
|
small nuclear ribonucleoprotein 200kDa (U5)
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SORT1
|
sortilin 1
|
|
SPAST
|
spastin
|
|
SPATA16
|
spermatogenesis associated 16
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPG19
|
spastic paraplegia 19 (autosomal dominant)
|
|
SPG21
|
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SPP1
|
secreted phosphoprotein 1
|
|
SPRED1
|
sprouty-related, EVH1 domain containing 1
|
|
SRC
|
SRC proto-oncogene, non-receptor tyrosine kinase
|
|
ST14
|
suppression of tumorigenicity 14 (colon carcinoma)
|
|
STAP1
|
signal transducing adaptor family member 1
|
|
STAT1
|
signal transducer and activator of transcription 1, 91kDa
|
|
STAT3
|
signal transducer and activator of transcription 3 (acute-phase response factor)
|
|
STIL
|
SCL/TAL1 interrupting locus
|
|
STK4
|
serine/threonine kinase 4
|
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
|
SUMO1
|
small ubiquitin-like modifier 1
|
|
SYNGAP1
|
synaptic Ras GTPase activating protein 1
|
|
SYNJ1
|
synaptojanin 1
|
|
TACSTD2
|
tumor-associated calcium signal transducer 2
|
|
TAF1
|
TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
|
|
TARDBP
|
TAR DNA binding protein
|
|
TBP
|
TATA box binding protein
|
|
TBX3
|
T-box 3
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TEAD1
|
TEA domain family member 1 (SV40 transcriptional enhancer factor)
|
|
TECR
|
trans-2,3-enoyl-CoA reductase
|
|
TECTA
|
tectorin alpha
|
|
TENM3
|
teneurin transmembrane protein 3
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TFAM
|
transcription factor A, mitochondrial
|
|
TFCP2
|
transcription factor CP2
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGFBI
|
transforming growth factor, beta-induced, 68kDa
|
|
TGIF1
|
TGFB-induced factor homeobox 1
|
|
TGM1
|
transglutaminase 1
|
|
TH
|
tyrosine hydroxylase
|
|
THAP1
|
THAP domain containing, apoptosis associated protein 1
|
|
TICAM1
|
toll-like receptor adaptor molecule 1
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TMC1
|
transmembrane channel-like 1
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TMEM126A
|
transmembrane protein 126A
|
|
TMEM38B
|
transmembrane protein 38B
|
|
TMIE
|
transmembrane inner ear
|
|
TMPRSS3
|
transmembrane protease, serine 3
|
|
TNFRSF11A
|
tumor necrosis factor receptor superfamily, member 11a, NFKB activator
|
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TNK2
|
tyrosine kinase, non-receptor, 2
|
|
TOPORS
|
topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
|
|
TOR1AIP1
|
torsin A interacting protein 1
|
|
TP53
|
tumor protein p53
|
|
TP63
|
tumor protein p63
|
|
TPM3
|
tropomyosin 3
|
|
TPP2
|
tripeptidyl peptidase II
|
|
TRAC
|
T cell receptor alpha constant
|
|
TRDN
|
triadin
|
|
TRPM1
|
transient receptor potential cation channel, subfamily M, member 1
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TRPV5
|
transient receptor potential cation channel, subfamily V, member 5
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
TTR
|
transthyretin
|
|
TULP1
|
tubby like protein 1
|
|
TUSC3
|
tumor suppressor candidate 3
|
|
TYMP
|
thymidine phosphorylase
|
|
TYR
|
tyrosinase
|
|
TYRP1
|
tyrosinase-related protein 1
|
|
UBD
|
ubiquitin D
|
|
UCHL1
|
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
|
|
UMOD
|
uromodulin
|
|
UNC93B1
|
unc-93 homolog B1 (C. elegans)
|
|
USH1C
|
Usher syndrome 1C (autosomal recessive, severe)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VAV1
|
vav 1 guanine nucleotide exchange factor
|
|
VCAN
|
versican
|
|
VCP
|
valosin containing protein
|
|
VEGFA
|
vascular endothelial growth factor A
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VLDLR
|
very low density lipoprotein receptor
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
VPS35
|
vacuolar protein sorting 35 homolog (S. cerevisiae)
|
|
VPS37A
|
vacuolar protein sorting 37 homolog A (S. cerevisiae)
|
|
VSX2
|
visual system homeobox 2
|
|
VWF
|
von Willebrand factor
|
|
WDR19
|
WD repeat domain 19
|
|
WDR62
|
WD repeat domain 62
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WNT10A
|
wingless-type MMTV integration site family, member 10A
|
|
WNT10B
|
wingless-type MMTV integration site family, member 10B
|
|
WRN
|
Werner syndrome, RecQ helicase-like
|
|
WWOX
|
WW domain containing oxidoreductase
|
|
XYLT1
|
xylosyltransferase I
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
|
ZNF141
|
zinc finger protein 141
|
|
ZP1
|
zona pellucida glycoprotein 1 (sperm receptor)
|
