Symbol |
Name |
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
AAGAB
|
alpha- and gamma-adaptin binding protein
|
ABCB1
|
ATP-binding cassette, sub-family B (MDR/TAP), member 1
|
ABCB11
|
ATP-binding cassette, sub-family B (MDR/TAP), member 11
|
ABCB4
|
ATP-binding cassette, sub-family B (MDR/TAP), member 4
|
ABCC2
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 2
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
ABCD4
|
ATP-binding cassette, sub-family D (ALD), member 4
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
ACTA2
|
actin, alpha 2, smooth muscle, aorta
|
ACTB
|
actin, beta
|
ACTG2
|
actin, gamma 2, smooth muscle, enteric
|
ACVRL1
|
activin A receptor type II-like 1
|
ADA
|
adenosine deaminase
|
ADAM17
|
ADAM metallopeptidase domain 17
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
AGA
|
aspartylglucosaminidase
|
AGGF1
|
angiogenic factor with G patch and FHA domains 1
|
AHI1
|
Abelson helper integration site 1
|
AICDA
|
activation-induced cytidine deaminase
|
AIRE
|
autoimmune regulator
|
AK2
|
adenylate kinase 2
|
AKR1D1
|
aldo-keto reductase family 1, member D1
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
ALDOB
|
aldolase B, fructose-bisphosphate
|
ALG3
|
ALG3, alpha-1,3- mannosyltransferase
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
AMACR
|
alpha-methylacyl-CoA racemase
|
AMER1
|
APC membrane recruitment protein 1
|
ANTXR2
|
anthrax toxin receptor 2
|
AP1S1
|
adaptor-related protein complex 1, sigma 1 subunit
|
AP2S1
|
adaptor-related protein complex 2, sigma 1 subunit
|
APC
|
adenomatous polyposis coli
|
APOA1
|
apolipoprotein A-I
|
APOB
|
apolipoprotein B
|
AR
|
androgen receptor
|
ARHGAP31
|
Rho GTPase activating protein 31
|
ARL13B
|
ADP-ribosylation factor-like 13B
|
ARL6
|
ADP-ribosylation factor-like 6
|
ARNT2
|
aryl-hydrocarbon receptor nuclear translocator 2
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
ARX
|
aristaless related homeobox
|
ASCC1
|
activating signal cointegrator 1 complex subunit 1
|
ASCL1
|
achaete-scute family bHLH transcription factor 1
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
ATP8B1
|
ATPase, aminophospholipid transporter, class I, type 8B, member 1
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
ATXN1
|
ataxin 1
|
ATXN10
|
ataxin 10
|
ATXN2
|
ataxin 2
|
ATXN3
|
ataxin 3
|
ATXN7
|
ataxin 7
|
ATXN8
|
ataxin 8
|
ATXN8OS
|
ATXN8 opposite strand (non-protein coding)
|
AVP
|
arginine vasopressin
|
AXIN1
|
axin 1
|
AXIN2
|
axin 2
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
B9D1
|
B9 protein domain 1
|
BAAT
|
bile acid CoA:amino acid N-acyltransferase
|
BAX
|
BCL2-associated X protein
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
BBS1
|
Bardet-Biedl syndrome 1
|
BBS10
|
Bardet-Biedl syndrome 10
|
BBS12
|
Bardet-Biedl syndrome 12
|
BBS2
|
Bardet-Biedl syndrome 2
|
BBS4
|
Bardet-Biedl syndrome 4
|
BBS5
|
Bardet-Biedl syndrome 5
|
BBS7
|
Bardet-Biedl syndrome 7
|
BBS9
|
Bardet-Biedl syndrome 9
|
BCOR
|
BCL6 corepressor
|
BCR
|
breakpoint cluster region
|
BDNF
|
brain-derived neurotrophic factor
|
BIRC3
|
baculoviral IAP repeat containing 3
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
BLNK
|
B-cell linker
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
BRCA2
|
breast cancer 2, early onset
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
BTK
|
Bruton agammaglobulinemia tyrosine kinase
|
BUB1
|
BUB1 mitotic checkpoint serine/threonine kinase
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
BUB3
|
BUB3 mitotic checkpoint protein
|
C10ORF2
|
chromosome 10 open reading frame 2
|
C12ORF65
|
chromosome 12 open reading frame 65
|
C4A
|
complement component 4A (Rodgers blood group)
|
C5ORF42
|
chromosome 5 open reading frame 42
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
CASP10
|
caspase 10, apoptosis-related cysteine peptidase
|
CASP8
|
caspase 8, 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
|
CCR6
|
chemokine (C-C motif) receptor 6
|
CD19
|
CD19 molecule
|
CD3G
|
CD3g molecule, gamma (CD3-TCR complex)
|
CD79A
|
CD79a molecule, immunoglobulin-associated alpha
|
CD79B
|
CD79b molecule, immunoglobulin-associated beta
|
CD81
|
CD81 molecule
|
CDC6
|
cell division cycle 6
|
CDH1
|
cadherin 1, type 1, E-cadherin (epithelial)
|
CDK4
|
cyclin-dependent kinase 4
|
CDKL5
|
cyclin-dependent kinase-like 5
|
CDKN1A
|
cyclin-dependent kinase inhibitor 1A (p21, Cip1)
|
CDKN1B
|
cyclin-dependent kinase inhibitor 1B (p27, Kip1)
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
CDKN2B
|
cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
|
CDKN2C
|
cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
|
CDKN2D
|
cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
|
CEP290
|
centrosomal protein 290kDa
|
CEP41
|
centrosomal protein 41kDa
|
CEP57
|
centrosomal protein 57kDa
|
CFM1
|
cystic fibrosis modifier 1
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
CHAT
|
choline O-acetyltransferase
|
CHCHD10
|
coiled-coil-helix-coiled-coil-helix domain containing 10
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
CHEK2
|
checkpoint kinase 2
|
CHMP1A
|
charged multivesicular body protein 1A
|
CHMP2B
|
charged multivesicular body protein 2B
|
CHRM3
|
cholinergic receptor, muscarinic 3
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
CHRNB1
|
cholinergic receptor, nicotinic, beta 1 (muscle)
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
CHRNE
|
cholinergic receptor, nicotinic, epsilon (muscle)
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
CIITA
|
class II, major histocompatibility complex, transactivator
|
CISD2
|
CDGSH iron sulfur domain 2
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
CLMP
|
CXADR-like membrane protein
|
COG4
|
component of oligomeric golgi complex 4
|
COG6
|
component of oligomeric golgi complex 6
|
COL14A1
|
collagen, type XIV, alpha 1
|
COL18A1
|
collagen, type XVIII, alpha 1
|
COL1A1
|
collagen, type I, alpha 1
|
COL3A1
|
collagen, type III, alpha 1
|
COL5A1
|
collagen, type V, alpha 1
|
COL5A2
|
collagen, type V, alpha 2
|
COL7A1
|
collagen, type VII, alpha 1
|
COLQ
|
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
|
COMT
|
catechol-O-methyltransferase
|
COX1
|
|
COX2
|
|
COX3
|
|
COX4I2
|
cytochrome c oxidase subunit IV isoform 2 (lung)
|
COX7B
|
cytochrome c oxidase subunit VIIb
|
CR2
|
complement component (3d/Epstein Barr virus) receptor 2
|
CREBBP
|
CREB binding protein
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
CTC1
|
CTS telomere maintenance complex component 1
|
CTGF
|
connective tissue growth factor
|
CTHRC1
|
collagen triple helix repeat containing 1
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
CYBA
|
cytochrome b-245, alpha polypeptide
|
CYBB
|
cytochrome b-245, beta polypeptide
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
DCC
|
DCC netrin 1 receptor
|
DCHS1
|
dachsous cadherin-related 1
|
DCLRE1C
|
DNA cross-link repair 1C
|
DCTN4
|
dynactin 4 (p62)
|
DDC
|
dopa decarboxylase (aromatic L-amino acid decarboxylase)
|
DDHD2
|
DDHD domain containing 2
|
DDIT3
|
DNA-damage-inducible transcript 3
|
DDOST
|
dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
|
DDX59
|
DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
|
DGAT1
|
diacylglycerol O-acyltransferase 1
|
DHCR24
|
24-dehydrocholesterol reductase
|
DHCR7
|
7-dehydrocholesterol reductase
|
DHODH
|
dihydroorotate dehydrogenase (quinone)
|
DIS3L2
|
DIS3 like 3'-5' exoribonuclease 2
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
DMPK
|
dystrophia myotonica-protein kinase
|
DNAJB6
|
DnaJ (Hsp40) homolog, subfamily B, member 6
|
DNASE1L3
|
deoxyribonuclease I-like 3
|
DNMT3B
|
DNA (cytosine-5-)-methyltransferase 3 beta
|
DOCK6
|
dedicator of cytokinesis 6
|
DPYS
|
dihydropyrimidinase
|
DSP
|
desmoplakin
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
ECE1
|
endothelin converting enzyme 1
|
EDN3
|
endothelin 3
|
EDNRB
|
endothelin receptor type B
|
EFEMP2
|
EGF containing fibulin-like extracellular matrix protein 2
|
EFTUD2
|
elongation factor Tu GTP binding domain containing 2
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
ELN
|
elastin
|
ENG
|
endoglin
|
EOGT
|
EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
|
EP300
|
E1A binding protein p300
|
EPCAM
|
epithelial cell adhesion molecule
|
EPHX1
|
epoxide hydrolase 1, microsomal (xenobiotic)
|
ERBB2
|
erb-b2 receptor tyrosine kinase 2
|
ERCC2
|
excision repair cross-complementation group 2
|
ERCC3
|
excision repair cross-complementation group 3
|
ERCC4
|
excision repair cross-complementation group 4
|
EWSR1
|
EWS RNA-binding protein 1
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
F12
|
coagulation factor XII (Hageman factor)
|
F2
|
coagulation factor II (thrombin)
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
F9
|
coagulation factor IX
|
FAH
|
fumarylacetoacetate hydrolase (fumarylacetoacetase)
|
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
|
FAT4
|
FAT atypical cadherin 4
|
FBLN5
|
fibulin 5
|
FBN2
|
fibrillin 2
|
FBXL4
|
F-box and leucine-rich repeat protein 4
|
FERMT1
|
fermitin family member 1
|
FGA
|
fibrinogen alpha chain
|
FGB
|
fibrinogen beta chain
|
FGF20
|
fibroblast growth factor 20
|
FGFR1
|
fibroblast growth factor receptor 1
|
FGFR2
|
fibroblast growth factor receptor 2
|
FGFR3
|
fibroblast growth factor receptor 3
|
FGG
|
fibrinogen gamma chain
|
FH
|
fumarate hydratase
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
FLCN
|
folliculin
|
FLNA
|
filamin A, alpha
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
FMR1
|
fragile X mental retardation 1
|
FOXF1
|
forkhead box F1
|
FOXG1
|
forkhead box G1
|
FOXP1
|
forkhead box P1
|
FOXP3
|
forkhead box P3
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
FREM1
|
FRAS1 related extracellular matrix 1
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
FTL
|
ferritin, light polypeptide
|
FUS
|
FUS RNA binding protein
|
FUZ
|
fuzzy planar cell polarity protein
|
G6PC
|
glucose-6-phosphatase, catalytic subunit
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
GATA3
|
GATA binding protein 3
|
GATA6
|
GATA binding protein 6
|
GBA
|
glucosidase, beta, acid
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
GCH1
|
GTP cyclohydrolase 1
|
GDF2
|
growth differentiation factor 2
|
GDF3
|
growth differentiation factor 3
|
GDF6
|
growth differentiation factor 6
|
GDNF
|
glial cell derived neurotrophic factor
|
GFI1B
|
growth factor independent 1B transcription repressor
|
GIF
|
gastric intrinsic factor (vitamin B synthesis)
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
GLA
|
galactosidase, alpha
|
GLI3
|
GLI family zinc finger 3
|
GMPPA
|
GDP-mannose pyrophosphorylase A
|
GNA11
|
guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
|
GNAI3
|
guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
|
GNAS
|
GNAS complex locus
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
GPC3
|
glypican 3
|
GPC4
|
glypican 4
|
GPIHBP1
|
glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
|
GREM1
|
gremlin 1, DAN family BMP antagonist
|
GRIP1
|
glutamate receptor interacting protein 1
|
GTF2H5
|
general transcription factor IIH, polypeptide 5
|
GTF2I
|
general transcription factor IIi
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
GUCY1A3
|
guanylate cyclase 1, soluble, alpha 3
|
GUCY2C
|
guanylate cyclase 2C
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
HBB
|
hemoglobin, beta
|
HCCS
|
holocytochrome c synthase
|
HDAC4
|
histone deacetylase 4
|
HDAC8
|
histone deacetylase 8
|
HESX1
|
HESX homeobox 1
|
HFE
|
hemochromatosis
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
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
|
HMBS
|
hydroxymethylbilane synthase
|
HMGA2
|
high mobility group AT-hook 2
|
HNF1A
|
HNF1 homeobox A
|
HNF1B
|
HNF1 homeobox B
|
HOXD13
|
homeobox D13
|
HPGD
|
hydroxyprostaglandin dehydrogenase 15-(NAD)
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
HPS1
|
Hermansky-Pudlak syndrome 1
|
HPSE2
|
heparanase 2 (inactive)
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
HSD3B7
|
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
|
ICOS
|
inducible T-cell co-stimulator
|
IDS
|
iduronate 2-sulfatase
|
IDUA
|
iduronidase, alpha-L-
|
IFT27
|
intraflagellar transport 27
|
IFT80
|
intraflagellar transport 80
|
IGF2R
|
insulin-like growth factor 2 receptor
|
IGHM
|
immunoglobulin heavy constant mu
|
IGLL1
|
immunoglobulin lambda-like polypeptide 1
|
IKBKAP
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
IL10
|
interleukin 10
|
IL10RA
|
interleukin 10 receptor, alpha
|
IL10RB
|
interleukin 10 receptor, beta
|
IL12B
|
interleukin 12B
|
IL12RB2
|
interleukin 12 receptor, beta 2
|
IL21
|
interleukin 21
|
IL23R
|
interleukin 23 receptor
|
IL2RG
|
interleukin 2 receptor, gamma
|
IL7R
|
interleukin 7 receptor
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
IRF1
|
interferon regulatory factor 1
|
IRF5
|
interferon regulatory factor 5
|
IRGM
|
immunity-related GTPase family, M
|
IRX5
|
iroquois homeobox 5
|
ITGA2B
|
integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
|
ITGA6
|
integrin, alpha 6
|
ITGA8
|
integrin, alpha 8
|
ITGB2
|
integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
|
ITGB3
|
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
|
ITGB4
|
integrin, beta 4
|
JAG1
|
jagged 1
|
JAK2
|
Janus kinase 2
|
JAK3
|
Janus kinase 3
|
JUP
|
junction plakoglobin
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
KCND3
|
potassium channel, voltage gated Shal related subfamily D, member 3
|
KCNK9
|
potassium channel, two pore domain subfamily K, member 9
|
KCNQ1OT1
|
KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
|
KIAA0196
|
KIAA0196
|
KIAA2022
|
KIAA2022
|
KIF1BP
|
KIF1 binding protein
|
KIF7
|
kinesin family member 7
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
KLF6
|
Kruppel-like factor 6
|
KLLN
|
killin, p53-regulated DNA replication inhibitor
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
KRT18
|
keratin 18, type I
|
KRT8
|
keratin 8, type II
|
L1CAM
|
L1 cell adhesion molecule
|
LAMA3
|
laminin, alpha 3
|
LAMB3
|
laminin, beta 3
|
LAMC2
|
laminin, gamma 2
|
LBR
|
lamin B receptor
|
LCT
|
lactase
|
LEMD3
|
LEM domain containing 3
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
LIMK1
|
LIM domain kinase 1
|
LIPA
|
lipase A, lysosomal acid, cholesterol esterase
|
LMNB1
|
lamin B1
|
LPIN2
|
lipin 2
|
LRBA
|
LPS-responsive vesicle trafficking, beach and anchor containing
|
LRIG2
|
leucine-rich repeats and immunoglobulin-like domains 2
|
LRP2
|
low density lipoprotein receptor-related protein 2
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
LRRC8A
|
leucine rich repeat containing 8 family, member A
|
LRRFIP2
|
leucine rich repeat (in FLII) interacting protein 2
|
LTBP4
|
latent transforming growth factor beta binding protein 4
|
LYST
|
lysosomal trafficking regulator
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
MALT1
|
MALT1 paracaspase
|
MAPK1
|
mitogen-activated protein kinase 1
|
MAPT
|
microtubule-associated protein tau
|
MATR3
|
matrin 3
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
MC1R
|
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
|
MCC
|
mutated in colorectal cancers
|
MCEE
|
methylmalonyl CoA epimerase
|
MCM6
|
minichromosome maintenance complex component 6
|
MDM2
|
MDM2 proto-oncogene, E3 ubiquitin protein ligase
|
MECP2
|
methyl CpG binding protein 2
|
MED12
|
mediator complex subunit 12
|
MED17
|
mediator complex subunit 17
|
MEFV
|
Mediterranean fever
|
MEGF10
|
multiple EGF-like-domains 10
|
MEN1
|
multiple endocrine neoplasia I
|
MEOX1
|
mesenchyme homeobox 1
|
MET
|
MET proto-oncogene, receptor tyrosine kinase
|
MID1
|
midline 1
|
MITF
|
microphthalmia-associated transcription factor
|
MKKS
|
McKusick-Kaufman syndrome
|
MKS1
|
Meckel syndrome, type 1
|
MLH1
|
mutL homolog 1
|
MLH3
|
mutL homolog 3
|
MLX
|
MLX, MAX dimerization protein
|
MMP1
|
matrix metallopeptidase 1
|
MNX1
|
motor neuron and pancreas homeobox 1
|
MPI
|
mannose phosphate isomerase
|
MPL
|
MPL proto-oncogene, thrombopoietin receptor
|
MPZ
|
myelin protein zero
|
MS4A1
|
membrane-spanning 4-domains, subfamily A, member 1
|
MSH2
|
mutS homolog 2
|
MSH6
|
mutS homolog 6
|
MSR1
|
macrophage scavenger receptor 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-TK
|
tRNA
|
MT-TL1
|
tRNA
|
MT-TQ
|
tRNA
|
MT-TS1
|
tRNA
|
MT-TS2
|
tRNA
|
MT-TW
|
tRNA
|
MTM1
|
myotubularin 1
|
MTTP
|
microsomal triglyceride transfer protein
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
MUTYH
|
mutY homolog
|
MVK
|
mevalonate kinase
|
MYCN
|
v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
|
MYD88
|
myeloid differentiation primary response 88
|
MYH8
|
myosin, heavy chain 8, skeletal muscle, perinatal
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
MYO5B
|
myosin VB
|
MYOT
|
myotilin
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
NALCN
|
sodium leak channel, non selective
|
NBN
|
nibrin
|
NCF1
|
neutrophil cytosolic factor 1
|
NCF2
|
neutrophil cytosolic factor 2
|
NCF4
|
neutrophil cytosolic factor 4, 40kDa
|
ND1
|
|
NEB
|
nebulin
|
NEK1
|
NIMA-related kinase 1
|
NFKB2
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
|
NFKBIA
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
|
NHP2
|
NHP2 ribonucleoprotein
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
NOP10
|
NOP10 ribonucleoprotein
|
NOTCH1
|
notch 1
|
NOTCH2
|
notch 2
|
NOTCH3
|
notch 3
|
NPC1
|
Niemann-Pick disease, type C1
|
NPC2
|
Niemann-Pick disease, type C2
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
NPHS1
|
nephrosis 1, congenital, Finnish type (nephrin)
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
NRTN
|
neurturin
|
NRXN1
|
neurexin 1
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
NUP62
|
nucleoporin 62kDa
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
OFD1
|
oral-facial-digital syndrome 1
|
OPLAH
|
5-oxoprolinase (ATP-hydrolysing)
|
OPTN
|
optineurin
|
ORC1
|
origin recognition complex, subunit 1
|
ORC4
|
origin recognition complex, subunit 4
|
OTC
|
ornithine carbamoyltransferase
|
OTX2
|
orthodenticle homeobox 2
|
PABPN1
|
poly(A) binding protein, nuclear 1
|
PALB2
|
partner and localizer of BRCA2
|
PANK2
|
pantothenate kinase 2
|
PAX3
|
paired box 3
|
PCNA
|
proliferating cell nuclear antigen
|
PCSK1
|
proprotein convertase subtilisin/kexin type 1
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
PDGFRA
|
platelet-derived growth factor receptor, alpha polypeptide
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
PDGFRL
|
platelet-derived growth factor receptor-like
|
PDP1
|
pyruvate dehyrogenase phosphatase catalytic subunit 1
|
PEX1
|
peroxisomal biogenesis factor 1
|
PEX10
|
peroxisomal biogenesis factor 10
|
PEX11B
|
peroxisomal biogenesis factor 11 beta
|
PEX12
|
peroxisomal biogenesis factor 12
|
PEX13
|
peroxisomal biogenesis factor 13
|
PEX14
|
peroxisomal biogenesis factor 14
|
PEX16
|
peroxisomal biogenesis factor 16
|
PEX19
|
peroxisomal biogenesis factor 19
|
PEX2
|
peroxisomal biogenesis factor 2
|
PEX26
|
peroxisomal biogenesis factor 26
|
PEX3
|
peroxisomal biogenesis factor 3
|
PEX5
|
peroxisomal biogenesis factor 5
|
PEX6
|
peroxisomal biogenesis factor 6
|
PFN1
|
profilin 1
|
PHOX2B
|
paired-like homeobox 2b
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
PIGN
|
phosphatidylinositol glycan anchor biosynthesis, class N
|
PIGO
|
phosphatidylinositol glycan anchor biosynthesis, class O
|
PIGV
|
phosphatidylinositol glycan anchor biosynthesis, class V
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
PITX2
|
paired-like homeodomain 2
|
PKD1
|
polycystic kidney disease 1 (autosomal dominant)
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
PKP1
|
plakophilin 1
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
PLCG2
|
phospholipase C, gamma 2 (phosphatidylinositol-specific)
|
PLEC
|
plectin
|
PLG
|
plasminogen
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
PLP1
|
proteolipid protein 1
|
PMS1
|
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
PNKD
|
paroxysmal nonkinesigenic dyskinesia
|
PNLIP
|
pancreatic lipase
|
POLG
|
polymerase (DNA directed), gamma
|
POLG2
|
polymerase (DNA directed), gamma 2, accessory subunit
|
POLR1C
|
polymerase (RNA) I polypeptide C, 30kDa
|
POLR1D
|
polymerase (RNA) I polypeptide D, 16kDa
|
POLR3A
|
polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
|
POMT1
|
protein-O-mannosyltransferase 1
|
PORCN
|
porcupine homolog (Drosophila)
|
POT1
|
protection of telomeres 1
|
POU6F2
|
POU class 6 homeobox 2
|
PQBP1
|
polyglutamine binding protein 1
|
PRDM16
|
PR domain containing 16
|
PRKCD
|
protein kinase C, delta
|
PRKCG
|
protein kinase C, gamma
|
PRKCSH
|
protein kinase C substrate 80K-H
|
PRKRA
|
protein kinase, interferon-inducible double stranded RNA dependent activator
|
PRNP
|
prion protein
|
PROKR2
|
prokineticin receptor 2
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
PRSS1
|
protease, serine, 1 (trypsin 1)
|
PRTN3
|
proteinase 3
|
PSAP
|
prosaposin
|
PSEN1
|
presenilin 1
|
PSTPIP1
|
proline-serine-threonine phosphatase interacting protein 1
|
PTCH1
|
patched 1
|
PTCH2
|
patched 2
|
PTDSS1
|
phosphatidylserine synthase 1
|
PTEN
|
phosphatase and tensin homolog
|
PTPN12
|
protein tyrosine phosphatase, non-receptor type 12
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
PTPN3
|
protein tyrosine phosphatase, non-receptor type 3
|
PTPRJ
|
protein tyrosine phosphatase, receptor type, J
|
PTRF
|
polymerase I and transcript release factor
|
PTS
|
6-pyruvoyltetrahydropterin synthase
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
QDPR
|
quinoid dihydropteridine reductase
|
RAD21
|
RAD21 homolog (S. pombe)
|
RAD51C
|
RAD51 paralog C
|
RAD54B
|
RAD54 homolog B (S. cerevisiae)
|
RAG1
|
recombination activating gene 1
|
RAG2
|
recombination activating gene 2
|
RAPSN
|
receptor-associated protein of the synapse
|
RARB
|
retinoic acid receptor, beta
|
RB1
|
retinoblastoma 1
|
RBM8A
|
RNA binding motif protein 8A
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
RECQL4
|
RecQ protein-like 4
|
REEP1
|
receptor accessory protein 1
|
RET
|
ret proto-oncogene
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
RFX5
|
regulatory factor X, 5 (influences HLA class II expression)
|
RFX6
|
regulatory factor X, 6
|
RFXANK
|
regulatory factor X-associated ankyrin-containing protein
|
RFXAP
|
regulatory factor X-associated protein
|
RHBDF2
|
rhomboid 5 homolog 2 (Drosophila)
|
RIPK4
|
receptor-interacting serine-threonine kinase 4
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
RPGRIP1L
|
RPGRIP1-like
|
RPS19
|
ribosomal protein S19
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
RTEL1
|
regulator of telomere elongation helicase 1
|
SALL1
|
spalt-like transcription factor 1
|
SALL4
|
spalt-like transcription factor 4
|
SAR1B
|
secretion associated, Ras related GTPase 1B
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
SCARB2
|
scavenger receptor class B, member 2
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
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
|
SEC23A
|
Sec23 homolog A (S. cerevisiae)
|
SEC63
|
SEC63 homolog (S. cerevisiae)
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
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
|
SERPINH1
|
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
|
SETBP1
|
SET binding protein 1
|
SETX
|
senataxin
|
SF3B4
|
splicing factor 3b, subunit 4, 49kDa
|
SH2B1
|
SH2B adaptor protein 1
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
SHH
|
sonic hedgehog
|
SI
|
sucrase-isomaltase (alpha-glucosidase)
|
SKI
|
SKI proto-oncogene
|
SKIV2L
|
superkiller viralicidic activity 2-like (S. cerevisiae)
|
SLC10A2
|
solute carrier family 10 (sodium/bile acid cotransporter), member 2
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
SLC19A3
|
solute carrier family 19 (thiamine transporter), member 3
|
SLC25A13
|
solute carrier family 25 (aspartate/glutamate carrier), member 13
|
SLC2A10
|
solute carrier family 2 (facilitated glucose transporter), member 10
|
SLC2A2
|
solute carrier family 2 (facilitated glucose transporter), member 2
|
SLC30A2
|
solute carrier family 30 (zinc transporter), member 2
|
SLC35A2
|
solute carrier family 35 (UDP-galactose transporter), member A2
|
SLC37A4
|
solute carrier family 37 (glucose-6-phosphate transporter), member 4
|
SLC39A4
|
solute carrier family 39 (zinc transporter), member 4
|
SLC46A1
|
solute carrier family 46 (folate transporter), member 1
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
SLCO1B1
|
solute carrier organic anion transporter family, member 1B1
|
SLCO1B3
|
solute carrier organic anion transporter family, member 1B3
|
SLCO2A1
|
solute carrier organic anion transporter family, member 2A1
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
SMAD4
|
SMAD family member 4
|
SMC1A
|
structural maintenance of chromosomes 1A
|
SMC3
|
structural maintenance of chromosomes 3
|
SNAI2
|
snail family zinc finger 2
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
SOD1
|
superoxide dismutase 1, soluble
|
SOX10
|
SRY (sex determining region Y)-box 10
|
SOX2
|
SRY (sex determining region Y)-box 2
|
SOX3
|
SRY (sex determining region Y)-box 3
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
SPG21
|
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
SPINK1
|
serine peptidase inhibitor, Kazal type 1
|
SPINK5
|
serine peptidase inhibitor, Kazal type 5
|
SRCAP
|
Snf2-related CREBBP activator protein
|
STAT3
|
signal transducer and activator of transcription 3 (acute-phase response factor)
|
STAT4
|
signal transducer and activator of transcription 4
|
STK11
|
serine/threonine kinase 11
|
STRA6
|
stimulated by retinoic acid 6
|
STS
|
steroid sulfatase (microsomal), isozyme S
|
STX1A
|
syntaxin 1A (brain)
|
STX3
|
syntaxin 3
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
SYT14
|
synaptotagmin XIV
|
TARDBP
|
TAR DNA binding protein
|
TBCE
|
tubulin folding cofactor E
|
TBL2
|
transducin (beta)-like 2
|
TBP
|
TATA box binding protein
|
TBX1
|
T-box 1
|
TBX3
|
T-box 3
|
TCF3
|
transcription factor 3
|
TCF4
|
transcription factor 4
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
TCTN1
|
tectonic family member 1
|
TCTN2
|
tectonic family member 2
|
TCTN3
|
tectonic family member 3
|
TECPR2
|
tectonin beta-propeller repeat containing 2
|
TEK
|
TEK tyrosine kinase, endothelial
|
TERC
|
telomerase RNA component
|
TERT
|
telomerase reverse transcriptase
|
TET2
|
tet methylcytosine dioxygenase 2
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
TGFB1
|
transforming growth factor, beta 1
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
TIMM8A
|
translocase of inner mitochondrial membrane 8 homolog A (yeast)
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
TJP2
|
tight junction protein 2
|
TLR4
|
toll-like receptor 4
|
TMEM138
|
transmembrane protein 138
|
TMEM216
|
transmembrane protein 216
|
TMEM231
|
transmembrane protein 231
|
TMEM237
|
transmembrane protein 237
|
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
|
TNFSF12
|
tumor necrosis factor (ligand) superfamily, member 12
|
TNXB
|
tenascin XB
|
TP53
|
tumor protein p53
|
TP63
|
tumor protein p63
|
TPM3
|
tropomyosin 3
|
TREX1
|
three prime repair exonuclease 1
|
TRIM32
|
tripartite motif containing 32
|
TRNE
|
|
TSC1
|
tuberous sclerosis 1
|
TSC2
|
tuberous sclerosis 2
|
TSPYL1
|
TSPY-like 1
|
TTC37
|
tetratricopeptide repeat domain 37
|
TTC7A
|
tetratricopeptide repeat domain 7A
|
TTC8
|
tetratricopeptide repeat domain 8
|
TUBB4A
|
tubulin, beta 4A class IVa
|
TWIST2
|
twist family bHLH transcription factor 2
|
TYMP
|
thymidine phosphorylase
|
UBE3B
|
ubiquitin protein ligase E3B
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
UPB1
|
ureidopropionase, beta
|
UROD
|
uroporphyrinogen decarboxylase
|
USB1
|
U6 snRNA biogenesis 1
|
VAMP1
|
vesicle-associated membrane protein 1 (synaptobrevin 1)
|
VANGL1
|
VANGL planar cell polarity protein 1
|
VAPB
|
VAMP (vesicle-associated membrane protein)-associated protein B and C
|
VIPAS39
|
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
VPS33B
|
vacuolar protein sorting 33 homolog B (yeast)
|
VWF
|
von Willebrand factor
|
WAS
|
Wiskott-Aldrich syndrome
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
WDR34
|
WD repeat domain 34
|
WDR35
|
WD repeat domain 35
|
WDR60
|
WD repeat domain 60
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
WIPF1
|
WAS/WASL interacting protein family, member 1
|
WNK1
|
WNK lysine deficient protein kinase 1
|
WNT3
|
wingless-type MMTV integration site family, member 3
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
WRAP53
|
WD repeat containing, antisense to TP53
|
WRN
|
Werner syndrome, RecQ helicase-like
|
WT1
|
Wilms tumor 1
|
YARS2
|
tyrosyl-tRNA synthetase 2, mitochondrial
|
ZBTB24
|
zinc finger and BTB domain containing 24
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
ZIC3
|
Zic family member 3
|
ZNF423
|
zinc finger protein 423
|
ZNF592
|
zinc finger protein 592
|