| Symbol |
Name |
|
A2M
|
alpha-2-macroglobulin
|
|
AAGAB
|
alpha- and gamma-adaptin binding protein
|
|
ABCA12
|
ATP-binding cassette, sub-family A (ABC1), member 12
|
|
ABCA3
|
ATP-binding cassette, sub-family A (ABC1), member 3
|
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCB4
|
ATP-binding cassette, sub-family B (MDR/TAP), member 4
|
|
ABCB6
|
ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
|
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ABCG5
|
ATP-binding cassette, sub-family G (WHITE), member 5
|
|
ACADM
|
acyl-CoA dehydrogenase, C-4 to C-12 straight chain
|
|
ACE
|
angiotensin I converting enzyme
|
|
ACKR1
|
atypical chemokine receptor 1 (Duffy blood group)
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ACTA2
|
actin, alpha 2, smooth muscle, aorta
|
|
ACVR1
|
activin A receptor, type I
|
|
ACVR2A
|
activin A receptor, type IIA
|
|
ACVRL1
|
activin A receptor type II-like 1
|
|
ADA
|
adenosine deaminase
|
|
ADAM33
|
ADAM metallopeptidase domain 33
|
|
ADAMTS13
|
ADAM metallopeptidase with thrombospondin type 1 motif, 13
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
ADAMTSL4
|
ADAMTS-like 4
|
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
ADAT3
|
adenosine deaminase, tRNA-specific 3
|
|
ADCK3
|
aarF domain containing kinase 3
|
|
ADGRG1
|
adhesion G protein-coupled receptor G1
|
|
ADH1B
|
alcohol dehydrogenase 1B (class I), beta polypeptide
|
|
ADM
|
adrenomedullin
|
|
ADRA1A
|
adrenoceptor alpha 1A
|
|
ADRA2A
|
adrenoceptor alpha 2A
|
|
ADRB2
|
adrenoceptor beta 2, surface
|
|
ADRB3
|
adrenoceptor beta 3
|
|
AGK
|
acylglycerol kinase
|
|
AGXT
|
alanine-glyoxylate aminotransferase
|
|
AHR
|
aryl hydrocarbon receptor
|
|
AIF1
|
allograft inflammatory factor 1
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
AIPL1
|
aryl hydrocarbon receptor interacting protein-like 1
|
|
AKT3
|
v-akt murine thymoma viral oncogene homolog 3
|
|
ALAS2
|
5'-aminolevulinate synthase 2
|
|
ALDH1A3
|
aldehyde dehydrogenase 1 family, member A3
|
|
ALDH2
|
aldehyde dehydrogenase 2 family (mitochondrial)
|
|
ALDH7A1
|
aldehyde dehydrogenase 7 family, member A1
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ALOX12B
|
arachidonate 12-lipoxygenase, 12R type
|
|
ALOX15
|
arachidonate 15-lipoxygenase
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
AMELX
|
amelogenin, X-linked
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
AMH
|
anti-Mullerian hormone
|
|
AMN
|
amnion associated transmembrane protein
|
|
ANGPT1
|
angiopoietin 1
|
|
ANGPT2
|
angiopoietin 2
|
|
ANGPT4
|
angiopoietin 4
|
|
ANK2
|
ankyrin 2, neuronal
|
|
ANKH
|
ANKH inorganic pyrophosphate transport regulator
|
|
ANLN
|
anillin, actin binding protein
|
|
ANO5
|
anoctamin 5
|
|
ANTXR2
|
anthrax toxin receptor 2
|
|
AP1S1
|
adaptor-related protein complex 1, sigma 1 subunit
|
|
APC
|
adenomatous polyposis coli
|
|
APOA5
|
apolipoprotein A-V
|
|
APOE
|
apolipoprotein E
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
AQP2
|
aquaporin 2 (collecting duct)
|
|
ARFGEF2
|
ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARMC5
|
armadillo repeat containing 5
|
|
ARSA
|
arylsulfatase A
|
|
ARSB
|
arylsulfatase B
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ARX
|
aristaless related homeobox
|
|
ASPM
|
asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
|
|
ASS1
|
argininosuccinate synthase 1
|
|
ATL1
|
atlastin GTPase 1
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATP13A2
|
ATPase type 13A2
|
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
|
ATP2A2
|
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
|
|
ATP2C1
|
ATPase, Ca++ transporting, type 2C, member 1
|
|
ATP6V0A2
|
ATPase, H+ transporting, lysosomal V0 subunit a2
|
|
ATP6V1B1
|
ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
ATXN3
|
ataxin 3
|
|
ATXN7
|
ataxin 7
|
|
AURKA
|
aurora kinase A
|
|
AVP
|
arginine vasopressin
|
|
AVPR1A
|
arginine vasopressin receptor 1A
|
|
AVPR2
|
arginine vasopressin receptor 2
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
BACE1
|
beta-site APP-cleaving enzyme 1
|
|
BAP1
|
BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
|
|
BARD1
|
BRCA1 associated RING domain 1
|
|
BAX
|
BCL2-associated X protein
|
|
BBS1
|
Bardet-Biedl syndrome 1
|
|
BBS10
|
Bardet-Biedl syndrome 10
|
|
BBS12
|
Bardet-Biedl syndrome 12
|
|
BBS2
|
Bardet-Biedl syndrome 2
|
|
BEST1
|
bestrophin 1
|
|
BHLHA9
|
basic helix-loop-helix family, member a9
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
BMP2
|
bone morphogenetic protein 2
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
BMPR1B
|
bone morphogenetic protein receptor, type IB
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRCA3
|
breast cancer 3
|
|
BRCATA
|
Breast cancer, 11;22 translocation associated
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BRWD3
|
bromodomain and WD repeat domain containing 3
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
BSND
|
barttin CLCNK-type chloride channel accessory beta subunit
|
|
BTD
|
biotinidase
|
|
BTK
|
Bruton agammaglobulinemia tyrosine kinase
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C3
|
complement component 3
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
C5
|
complement component 5
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CA4
|
carbonic anhydrase IV
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CACNB2
|
calcium channel, voltage-dependent, beta 2 subunit
|
|
CALCRL
|
calcitonin receptor-like
|
|
CASQ2
|
calsequestrin 2 (cardiac muscle)
|
|
CASR
|
calcium-sensing receptor
|
|
CBS
|
cystathionine-beta-synthase
|
|
CC2D1A
|
coiled-coil and C2 domain containing 1A
|
|
CCDC39
|
coiled-coil domain containing 39
|
|
CCDC40
|
coiled-coil domain containing 40
|
|
CCDC88A
|
coiled-coil domain containing 88A
|
|
CD200
|
CD200 molecule
|
|
CD28
|
CD28 molecule
|
|
CD40
|
CD40 molecule, TNF receptor superfamily member 5
|
|
CDC73
|
cell division cycle 73
|
|
CDH1
|
cadherin 1, type 1, E-cadherin (epithelial)
|
|
CDH23
|
cadherin-related 23
|
|
CDH3
|
cadherin 3, type 1, P-cadherin (placental)
|
|
CDK4
|
cyclin-dependent kinase 4
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CDSN
|
corneodesmosin
|
|
CEBPA
|
CCAAT/enhancer binding protein (C/EBP), alpha
|
|
CEBPB
|
CCAAT/enhancer binding protein (C/EBP), beta
|
|
CEBPD
|
CCAAT/enhancer binding protein (C/EBP), delta
|
|
CELIAC2
|
celiac disease 2
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CETP
|
cholesteryl ester transfer protein, plasma
|
|
CFI
|
complement factor I
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHAT
|
choline O-acetyltransferase
|
|
CHD5
|
chromodomain helicase DNA binding protein 5
|
|
CHEK2
|
checkpoint kinase 2
|
|
CHM
|
choroideremia (Rab escort protein 1)
|
|
CHN1
|
chimerin 1
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRNA4
|
cholinergic receptor, nicotinic, alpha 4 (neuronal)
|
|
CHRNA7
|
cholinergic receptor, nicotinic, alpha 7 (neuronal)
|
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CHST6
|
carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
|
|
CIITA
|
class II, major histocompatibility complex, transactivator
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CIZ1
|
CDKN1A interacting zinc finger protein 1
|
|
CLASP1
|
cytoplasmic linker associated protein 1
|
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
CLN6
|
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
|
|
CLRN1
|
clarin 1
|
|
CLSPN
|
claspin
|
|
CMTM1
|
CKLF-like MARVEL transmembrane domain containing 1
|
|
CMTM2
|
CKLF-like MARVEL transmembrane domain containing 2
|
|
CMTM3
|
CKLF-like MARVEL transmembrane domain containing 3
|
|
CMTM4
|
CKLF-like MARVEL transmembrane domain containing 4
|
|
CMTM5
|
CKLF-like MARVEL transmembrane domain containing 5
|
|
CMTM6
|
CKLF-like MARVEL transmembrane domain containing 6
|
|
CMTM7
|
CKLF-like MARVEL transmembrane domain containing 7
|
|
CMTM8
|
CKLF-like MARVEL transmembrane domain containing 8
|
|
CNGA3
|
cyclic nucleotide gated channel alpha 3
|
|
CNGB3
|
cyclic nucleotide gated channel beta 3
|
|
COCH
|
cochlin
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
COL2A1
|
collagen, type II, 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
|
|
COL4A5
|
collagen, type IV, alpha 5
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
COL9A1
|
collagen, type IX, alpha 1
|
|
COMT
|
catechol-O-methyltransferase
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
CP
|
ceruloplasmin (ferroxidase)
|
|
CPB2
|
carboxypeptidase B2 (plasma)
|
|
CPOX
|
coproporphyrinogen oxidase
|
|
CPS1
|
carbamoyl-phosphate synthase 1, mitochondrial
|
|
CPT1A
|
carnitine palmitoyltransferase 1A (liver)
|
|
CRB2
|
crumbs family member 2
|
|
CREB1
|
cAMP responsive element binding protein 1
|
|
CRP
|
C-reactive protein, pentraxin-related
|
|
CRTC1
|
CREB regulated transcription coactivator 1
|
|
CRTC2
|
CREB regulated transcription coactivator 2
|
|
CRX
|
cone-rod homeobox
|
|
CRYAA
|
crystallin, alpha A
|
|
CRYAB
|
crystallin, alpha B
|
|
CRYBB1
|
crystallin, beta B1
|
|
CRYBB2
|
crystallin, beta B2
|
|
CRYBB3
|
crystallin, beta B3
|
|
CRYGC
|
crystallin, gamma C
|
|
CRYGD
|
crystallin, gamma D
|
|
CRYGS
|
crystallin, gamma S
|
|
CSAG2
|
CSAG family, member 2
|
|
CSF1R
|
colony stimulating factor 1 receptor
|
|
CSF3R
|
colony stimulating factor 3 receptor (granulocyte)
|
|
CSH1
|
chorionic somatomammotropin hormone 1 (placental lactogen)
|
|
CSH2
|
chorionic somatomammotropin hormone 2
|
|
CST3
|
cystatin C
|
|
CTCFL
|
CCCTC-binding factor (zinc finger protein)-like
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTNNA3
|
catenin (cadherin-associated protein), alpha 3
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CTSC
|
cathepsin C
|
|
CTSD
|
cathepsin D
|
|
CTSK
|
cathepsin K
|
|
CUBN
|
cubilin (intrinsic factor-cobalamin receptor)
|
|
CUL7
|
cullin 7
|
|
CXCL8
|
chemokine (C-X-C motif) ligand 8
|
|
CYBA
|
cytochrome b-245, alpha polypeptide
|
|
CYLD
|
cylindromatosis (turban tumor syndrome)
|
|
CYP11B2
|
cytochrome P450, family 11, subfamily B, polypeptide 2
|
|
CYP17A1
|
cytochrome P450, family 17, subfamily A, polypeptide 1
|
|
CYP1A1
|
cytochrome P450, family 1, subfamily A, polypeptide 1
|
|
CYP1B1
|
cytochrome P450, family 1, subfamily B, polypeptide 1
|
|
CYP21A2
|
cytochrome P450, family 21, subfamily A, polypeptide 2
|
|
CYP27B1
|
cytochrome P450, family 27, subfamily B, polypeptide 1
|
|
CYP4V2
|
cytochrome P450, family 4, subfamily V, polypeptide 2
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
DAOA
|
D-amino acid oxidase activator
|
|
DDHD2
|
DDHD domain containing 2
|
|
DEFB1
|
defensin, beta 1
|
|
DEPDC5
|
DEP domain containing 5
|
|
DES
|
desmin
|
|
DFNA5
|
deafness, autosomal dominant 5
|
|
DFNB31
|
deafness, autosomal recessive 31
|
|
DFNB59
|
deafness, autosomal recessive 59
|
|
DGUOK
|
deoxyguanosine kinase
|
|
DHODH
|
dihydroorotate dehydrogenase (quinone)
|
|
DHX9
|
DEAH (Asp-Glu-Ala-His) box helicase 9
|
|
DICER1
|
dicer 1, ribonuclease type III
|
|
DIO2
|
deiodinase, iodothyronine, type II
|
|
DISP1
|
dispatched homolog 1 (Drosophila)
|
|
DLG3
|
discs, large homolog 3 (Drosophila)
|
|
DLL4
|
delta-like 4 (Drosophila)
|
|
DMD
|
dystrophin
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DNAAF3
|
dynein, axonemal, assembly factor 3
|
|
DNAH5
|
dynein, axonemal, heavy chain 5
|
|
DNAI1
|
dynein, axonemal, intermediate chain 1
|
|
DNAJB6
|
DnaJ (Hsp40) homolog, subfamily B, member 6
|
|
DNAJC5
|
DnaJ (Hsp40) homolog, subfamily C, member 5
|
|
DNM2
|
dynamin 2
|
|
DPYD
|
dihydropyrimidine dehydrogenase
|
|
DRD1
|
dopamine receptor D1
|
|
DRD2
|
dopamine receptor D2
|
|
DRD3
|
dopamine receptor D3
|
|
DRD4
|
dopamine receptor D4
|
|
DRD5
|
dopamine receptor D5
|
|
DSG1
|
desmoglein 1
|
|
DSG4
|
desmoglein 4
|
|
DSPP
|
dentin sialophosphoprotein
|
|
DTNBP1
|
dystrobrevin binding protein 1
|
|
DYRK1B
|
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B
|
|
DYSF
|
dysferlin
|
|
DYX3
|
dyslexia susceptibility 3
|
|
E2F1
|
E2F transcription factor 1
|
|
ECA1
|
epilepsy, childhood absence 1
|
|
ECM1
|
extracellular matrix protein 1
|
|
EDA
|
ectodysplasin A
|
|
EDN1
|
endothelin 1
|
|
EEF1A1
|
eukaryotic translation elongation factor 1 alpha 1
|
|
EFHC1
|
EF-hand domain (C-terminal) containing 1
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
EIF2B5
|
eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
|
|
ELN
|
elastin
|
|
EMD
|
emerin
|
|
ENAM
|
enamelin
|
|
ENG
|
endoglin
|
|
EPCAM
|
epithelial cell adhesion molecule
|
|
EPHA2
|
EPH receptor A2
|
|
EPM2A
|
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
|
|
EPOR
|
erythropoietin receptor
|
|
ESR1
|
estrogen receptor 1
|
|
ESRRB
|
estrogen-related receptor beta
|
|
ETFDH
|
electron-transferring-flavoprotein dehydrogenase
|
|
ETS1
|
v-ets avian erythroblastosis virus E26 oncogene homolog 1
|
|
EXO1
|
exonuclease 1
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EXT2
|
exostosin glycosyltransferase 2
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
F10
|
coagulation factor X
|
|
F11
|
coagulation factor XI
|
|
F12
|
coagulation factor XII (Hageman factor)
|
|
F13A1
|
coagulation factor XIII, A1 polypeptide
|
|
F2
|
coagulation factor II (thrombin)
|
|
F8
|
coagulation factor VIII, procoagulant component
|
|
F9
|
coagulation factor IX
|
|
FAAH
|
fatty acid amide hydrolase
|
|
FAM126A
|
family with sequence similarity 126, member A
|
|
FAM175A
|
family with sequence similarity 175, member A
|
|
FAM20A
|
family with sequence similarity 20, member A
|
|
FAM46A
|
family with sequence similarity 46, member A
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FBN1
|
fibrillin 1
|
|
FBP1
|
fructose-1,6-bisphosphatase 1
|
|
FBXW7
|
F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
|
|
FCGR2A
|
Fc fragment of IgG, low affinity IIa, receptor (CD32)
|
|
FECH
|
ferrochelatase
|
|
FGA
|
fibrinogen alpha chain
|
|
FGD4
|
FYVE, RhoGEF and PH domain containing 4
|
|
FGF1
|
fibroblast growth factor 1 (acidic)
|
|
FGF3
|
fibroblast growth factor 3
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FGG
|
fibrinogen gamma chain
|
|
FH
|
fumarate hydratase
|
|
FHL1
|
four and a half LIM domains 1
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLCN
|
folliculin
|
|
FLG
|
filaggrin
|
|
FLT4
|
fms-related tyrosine kinase 4
|
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
|
FLVCR2
|
feline leukemia virus subgroup C cellular receptor family, member 2
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXC1
|
forkhead box C1
|
|
FOXC2
|
forkhead box C2
|
|
FOXE1
|
forkhead box E1
|
|
FOXE3
|
forkhead box E3
|
|
FOXL2
|
forkhead box L2
|
|
FOXP3
|
forkhead box P3
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FRAXA
|
fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation)
|
|
FREM1
|
FRAS1 related extracellular matrix 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
FRMD7
|
FERM domain containing 7
|
|
FUS
|
FUS RNA binding protein
|
|
FUT10
|
fucosyltransferase 10 (alpha (1,3) fucosyltransferase)
|
|
FUT11
|
fucosyltransferase 11 (alpha (1,3) fucosyltransferase)
|
|
FZD4
|
frizzled class receptor 4
|
|
G6PC3
|
glucose 6 phosphatase, catalytic, 3
|
|
G6PD
|
glucose-6-phosphate dehydrogenase
|
|
GABRG2
|
gamma-aminobutyric acid (GABA) A receptor, gamma 2
|
|
GALC
|
galactosylceramidase
|
|
GALK1
|
galactokinase 1
|
|
GALNS
|
galactosamine (N-acetyl)-6-sulfatase
|
|
GALNT2
|
polypeptide N-acetylgalactosaminyltransferase 2
|
|
GAN
|
gigaxonin
|
|
GARS
|
glycyl-tRNA synthetase
|
|
GATA4
|
GATA binding protein 4
|
|
GATA5
|
GATA binding protein 5
|
|
GATA6
|
GATA binding protein 6
|
|
GBA
|
glucosidase, beta, acid
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GCKR
|
glucokinase (hexokinase 4) regulator
|
|
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
|
|
GDF5
|
growth differentiation factor 5
|
|
GFAP
|
glial fibrillary acidic protein
|
|
GGCX
|
gamma-glutamyl carboxylase
|
|
GH1
|
growth hormone 1
|
|
GIF
|
gastric intrinsic factor (vitamin B synthesis)
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJA3
|
gap junction protein, alpha 3, 46kDa
|
|
GJA8
|
gap junction protein, alpha 8, 50kDa
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB3
|
gap junction protein, beta 3, 31kDa
|
|
GJB4
|
gap junction protein, beta 4, 30.3kDa
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GLA
|
galactosidase, alpha
|
|
GLRA1
|
glycine receptor, alpha 1
|
|
GNAI3
|
guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
|
|
GNAL
|
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type
|
|
GNAS
|
GNAS complex locus
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
GNRH1
|
gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
|
|
GNRHR
|
gonadotropin-releasing hormone receptor
|
|
GOSR2
|
golgi SNAP receptor complex member 2
|
|
GP1BA
|
glycoprotein Ib (platelet), alpha polypeptide
|
|
GP9
|
glycoprotein IX (platelet)
|
|
GPR143
|
G protein-coupled receptor 143
|
|
GPR17
|
G protein-coupled receptor 17
|
|
GPX4
|
glutathione peroxidase 4
|
|
GREM1
|
gremlin 1, DAN family BMP antagonist
|
|
GRIA1
|
glutamate receptor, ionotropic, AMPA 1
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
GRM6
|
glutamate receptor, metabotropic 6
|
|
GRM7
|
glutamate receptor, metabotropic 7
|
|
GRN
|
granulin
|
|
GSN
|
gelsolin
|
|
GSTM1
|
glutathione S-transferase mu 1
|
|
GTF2I
|
general transcription factor IIi
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
HAVCR2
|
hepatitis A virus cellular receptor 2
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HBB
|
hemoglobin, beta
|
|
HFE
|
hemochromatosis
|
|
HK1
|
hexokinase 1
|
|
HLA-A
|
major histocompatibility complex, class I, A
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DQA1
|
major histocompatibility complex, class II, DQ alpha 1
|
|
HLA-DQB1
|
major histocompatibility complex, class II, DQ 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
|
|
HNF4A
|
hepatocyte nuclear factor 4, alpha
|
|
HNRNPA1
|
heterogeneous nuclear ribonucleoprotein A1
|
|
HNRNPA2B1
|
heterogeneous nuclear ribonucleoprotein A2/B1
|
|
HOXA1
|
homeobox A1
|
|
HOXA10
|
homeobox A10
|
|
HOXB13
|
homeobox B13
|
|
HOXD13
|
homeobox D13
|
|
HPGD
|
hydroxyprostaglandin dehydrogenase 15-(NAD)
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HPS1
|
Hermansky-Pudlak syndrome 1
|
|
HPSE2
|
heparanase 2 (inactive)
|
|
HR
|
hair growth associated
|
|
HSD17B1
|
hydroxysteroid (17-beta) dehydrogenase 1
|
|
HSF1
|
heat shock transcription factor 1
|
|
HSF4
|
heat shock transcription factor 4
|
|
HSP90AA1
|
heat shock protein 90kDa alpha (cytosolic), class A member 1
|
|
HSPA4
|
heat shock 70kDa protein 4
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
HSPB2
|
heat shock 27kDa protein 2
|
|
HSPD1
|
heat shock 60kDa protein 1 (chaperonin)
|
|
HTR1A
|
5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled
|
|
HTR1B
|
5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled
|
|
HTR2A
|
5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
|
|
IDDM9
|
insulin-dependent diabetes mellitus 9
|
|
IDE
|
insulin-degrading enzyme
|
|
IDH1
|
isocitrate dehydrogenase 1 (NADP+), soluble
|
|
IDS
|
iduronate 2-sulfatase
|
|
IFITM5
|
interferon induced transmembrane protein 5
|
|
IGF1R
|
insulin-like growth factor 1 receptor
|
|
IGSF1
|
immunoglobulin superfamily, member 1
|
|
IHH
|
indian hedgehog
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IL12B
|
interleukin 12B
|
|
IL1RAPL1
|
interleukin 1 receptor accessory protein-like 1
|
|
IL2
|
interleukin 2
|
|
IL21
|
interleukin 21
|
|
IL33
|
interleukin 33
|
|
IL4
|
interleukin 4
|
|
IL4R
|
interleukin 4 receptor
|
|
IL6
|
interleukin 6
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
IMPG1
|
interphotoreceptor matrix proteoglycan 1
|
|
IMPG2
|
interphotoreceptor matrix proteoglycan 2
|
|
INHBA
|
inhibin, beta A
|
|
INS
|
insulin
|
|
INVS
|
inversin
|
|
IQCB1
|
IQ motif containing B1
|
|
IRF6
|
interferon regulatory factor 6
|
|
IRF8
|
interferon regulatory factor 8
|
|
ISL1
|
ISL LIM homeobox 1
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
ITGA2B
|
integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
|
|
ITGA8
|
integrin, alpha 8
|
|
ITGB3
|
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
JAK2
|
Janus kinase 2
|
|
KARS
|
lysyl-tRNA synthetase
|
|
KBTBD13
|
kelch repeat and BTB (POZ) domain containing 13
|
|
KCNA1
|
potassium channel, voltage gated shaker related subfamily A, member 1
|
|
KCNH2
|
potassium channel, voltage gated eag related subfamily H, member 2
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
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
|
|
KCTD18
|
potassium channel tetramerization domain containing 18
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KIAA0196
|
KIAA0196
|
|
KIAA0319
|
KIAA0319
|
|
KIAA2022
|
KIAA2022
|
|
KIF1A
|
kinesin family member 1A
|
|
KIF21A
|
kinesin family member 21A
|
|
KIF5A
|
kinesin family member 5A
|
|
KIR2DL1
|
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1
|
|
KIRREL
|
kin of IRRE like (Drosophila)
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KLHL7
|
kelch-like family member 7
|
|
KLK4
|
kallikrein-related peptidase 4
|
|
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
|
|
KRT12
|
keratin 12, type I
|
|
KRT14
|
keratin 14, type I
|
|
KRT17
|
keratin 17, type I
|
|
KRT3
|
keratin 3, type II
|
|
KRT5
|
keratin 5, type II
|
|
KRT6A
|
keratin 6A, type II
|
|
KRT85
|
keratin 85, type II
|
|
KRT9
|
keratin 9, type I
|
|
L2HGDH
|
L-2-hydroxyglutarate dehydrogenase
|
|
LAMA2
|
laminin, alpha 2
|
|
LAMB2
|
laminin, beta 2 (laminin S)
|
|
LCA5
|
Leber congenital amaurosis 5
|
|
LCAT
|
lecithin-cholesterol acyltransferase
|
|
LCE3B
|
late cornified envelope 3B
|
|
LCE3C
|
late cornified envelope 3C
|
|
LDLR
|
low density lipoprotein receptor
|
|
LEMD3
|
LEM domain containing 3
|
|
LEPR
|
leptin receptor
|
|
LGI1
|
leucine-rich, glioma inactivated 1
|
|
LHFPL5
|
lipoma HMGIC fusion partner-like 5
|
|
LHX5
|
LIM homeobox 5
|
|
LIM2
|
lens intrinsic membrane protein 2, 19kDa
|
|
LIPG
|
lipase, endothelial
|
|
LIPH
|
lipase, member H
|
|
LITAF
|
lipopolysaccharide-induced TNF factor
|
|
LMAN1
|
lectin, mannose-binding, 1
|
|
LMNA
|
lamin A/C
|
|
LMNB1
|
lamin B1
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
LOC344967
|
acyl-CoA thioesterase 7 pseudogene
|
|
LOR
|
loricrin
|
|
LOX
|
lysyl oxidase
|
|
LOXHD1
|
lipoxygenase homology domains 1
|
|
LPA
|
lipoprotein, Lp(a)
|
|
LPAR6
|
lysophosphatidic acid receptor 6
|
|
LPL
|
lipoprotein lipase
|
|
LRP2
|
low density lipoprotein receptor-related protein 2
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LRRFIP2
|
leucine rich repeat (in FLII) interacting protein 2
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
LTBP2
|
latent transforming growth factor beta binding protein 2
|
|
MAOA
|
monoamine oxidase A
|
|
MAPT
|
microtubule-associated protein tau
|
|
MATN3
|
matrilin 3
|
|
MATR3
|
matrin 3
|
|
MBL2
|
mannose-binding lectin (protein C) 2, soluble
|
|
MC1R
|
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
|
|
MDM2
|
MDM2 proto-oncogene, E3 ubiquitin protein ligase
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MEF2A
|
myocyte enhancer factor 2A
|
|
MEFV
|
Mediterranean fever
|
|
MEN1
|
multiple endocrine neoplasia I
|
|
MET
|
MET proto-oncogene, receptor tyrosine kinase
|
|
METTL23
|
methyltransferase like 23
|
|
MFN2
|
mitofusin 2
|
|
MFRP
|
membrane frizzled-related protein
|
|
MFSD8
|
major facilitator superfamily domain containing 8
|
|
MICB
|
MHC class I polypeptide-related sequence B
|
|
MIR15A
|
microRNA 15a
|
|
MIR16-1
|
microRNA 16-1
|
|
MIR17
|
microRNA 17
|
|
MIR19B1
|
microRNA 19b-1
|
|
MIR19B2
|
microRNA 19b-2
|
|
MIR20A
|
microRNA 20a
|
|
MIR25
|
microRNA 25
|
|
MIR34A
|
microRNA 34a
|
|
MIR92A1
|
microRNA 92a-1
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MLC1
|
megalencephalic leukoencephalopathy with subcortical cysts 1
|
|
MLH1
|
mutL homolog 1
|
|
MMP1
|
matrix metallopeptidase 1
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MMP20
|
matrix metallopeptidase 20
|
|
MNX1
|
motor neuron and pancreas homeobox 1
|
|
MPC1
|
mitochondrial pyruvate carrier 1
|
|
MPL
|
MPL proto-oncogene, thrombopoietin receptor
|
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
|
MPZ
|
myelin protein zero
|
|
MRAP
|
melanocortin 2 receptor accessory protein
|
|
MRE11A
|
MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
|
|
MSH2
|
mutS homolog 2
|
|
MSH3
|
mutS homolog 3
|
|
MSH6
|
mutS homolog 6
|
|
MSTN
|
myostatin
|
|
MSX1
|
msh homeobox 1
|
|
MT-ATP6
|
ATP synthase F0 subunit 6
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MT-TM
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TT
|
tRNA
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MTM1
|
myotubularin 1
|
|
MTTP
|
microsomal triglyceride transfer protein
|
|
MUTYH
|
mutY homolog
|
|
MVK
|
mevalonate kinase
|
|
MYBPC3
|
myosin binding protein C, cardiac
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
MYO15A
|
myosin XVA
|
|
MYO6
|
myosin VI
|
|
MYO7A
|
myosin VIIA
|
|
MYOC
|
myocilin, trabecular meshwork inducible glucocorticoid response
|
|
MYOT
|
myotilin
|
|
MYP12
|
myopia 12 (high grade, autosomal dominant)
|
|
NAGS
|
N-acetylglutamate synthase
|
|
NALCN
|
sodium leak channel, non selective
|
|
NASP
|
nuclear autoantigenic sperm protein (histone-binding)
|
|
NBN
|
nibrin
|
|
NCAM1
|
neural cell adhesion molecule 1
|
|
NCOR1
|
nuclear receptor corepressor 1
|
|
NCSTN
|
nicastrin
|
|
ND1
|
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NDRG1
|
N-myc downstream regulated 1
|
|
NDUFA11
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
|
|
NEDD4L
|
neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
|
|
NEFL
|
neurofilament, light polypeptide
|
|
NEUROD1
|
neuronal differentiation 1
|
|
NEWENTRY
|
Record to support submission of GeneRIFs for a gene not in Gene (human; man).
|
|
NF1
|
neurofibromin 1
|
|
NFKB1
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
|
|
NHLRC1
|
NHL repeat containing E3 ubiquitin protein ligase 1
|
|
NHS
|
Nance-Horan syndrome (congenital cataracts and dental anomalies)
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NLRP12
|
NLR family, pyrin domain containing 12
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NLRP7
|
NLR family, pyrin domain containing 7
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOG
|
noggin
|
|
NOS1AP
|
nitric oxide synthase 1 (neuronal) adaptor protein
|
|
NOS3
|
nitric oxide synthase 3 (endothelial cell)
|
|
NOTCH1
|
notch 1
|
|
NOTCH3
|
notch 3
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
NPHP4
|
nephronophthisis 4
|
|
NPHS1
|
nephrosis 1, congenital, Finnish type (nephrin)
|
|
NPHS2
|
nephrosis 2, idiopathic, steroid-resistant (podocin)
|
|
NPM2
|
nucleophosmin/nucleoplasmin 2
|
|
NPM3
|
nucleophosmin/nucleoplasmin 3
|
|
NPR2
|
natriuretic peptide receptor 2
|
|
NQO1
|
NAD(P)H dehydrogenase, quinone 1
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
NR3C1
|
nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
|
|
NR4A2
|
nuclear receptor subfamily 4, group A, member 2
|
|
NR5A1
|
nuclear receptor subfamily 5, group A, member 1
|
|
NRG1
|
neuregulin 1
|
|
NRP2
|
neuropilin 2
|
|
NT5C3A
|
5'-nucleotidase, cytosolic IIIA
|
|
NT5E
|
5'-nucleotidase, ecto (CD73)
|
|
NTRK1
|
neurotrophic tyrosine kinase, receptor, type 1
|
|
NYX
|
nyctalopin
|
|
OCA2
|
oculocutaneous albinism II
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OGG1
|
8-oxoguanine DNA glycosylase
|
|
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
|
|
OPRL1
|
opiate receptor-like 1
|
|
OSBPL10
|
oxysterol binding protein-like 10
|
|
OSMR
|
oncostatin M receptor
|
|
OSTM1
|
osteopetrosis associated transmembrane protein 1
|
|
OTC
|
ornithine carbamoyltransferase
|
|
OTOA
|
otoancorin
|
|
P2RX7
|
purinergic receptor P2X, ligand gated ion channel, 7
|
|
PABPN1
|
poly(A) binding protein, nuclear 1
|
|
PACRG
|
PARK2 co-regulated
|
|
PAH
|
phenylalanine hydroxylase
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PARK7
|
parkinson protein 7
|
|
PAX1
|
paired box 1
|
|
PAX2
|
paired box 2
|
|
PAX3
|
paired box 3
|
|
PAX6
|
paired box 6
|
|
PAX9
|
paired box 9
|
|
PCDH15
|
protocadherin-related 15
|
|
PDCD1
|
programmed cell death 1
|
|
PDCD10
|
programmed cell death 10
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
PDE6A
|
phosphodiesterase 6A, cGMP-specific, rod, alpha
|
|
PDE6B
|
phosphodiesterase 6B, cGMP-specific, rod, beta
|
|
PDHB
|
pyruvate dehydrogenase (lipoamide) beta
|
|
PDYN
|
prodynorphin
|
|
PGLYRP1
|
peptidoglycan recognition protein 1
|
|
PHEX
|
phosphate regulating endopeptidase homolog, X-linked
|
|
PHF6
|
PHD finger protein 6
|
|
PHOX2B
|
paired-like homeobox 2b
|
|
PIF1
|
PIF1 5'-to-3' DNA helicase
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3CD
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
|
|
PIK3CG
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PIK3R2
|
phosphoinositide-3-kinase, regulatory subunit 2 (beta)
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PITPNM3
|
PITPNM family member 3
|
|
PITX3
|
paired-like homeodomain 3
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
PKLR
|
pyruvate kinase, liver and RBC
|
|
PKP2
|
plakophilin 2
|
|
PLCD1
|
phospholipase C, delta 1
|
|
PLEKHG4
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 4
|
|
PLEKHG5
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
|
PLIN1
|
perilipin 1
|
|
PLS3
|
plastin 3
|
|
PMP22
|
peripheral myelin protein 22
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
PNKD
|
paroxysmal nonkinesigenic dyskinesia
|
|
PNP
|
purine nucleoside phosphorylase
|
|
PNPLA1
|
patatin-like phospholipase domain containing 1
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
POLN
|
polymerase (DNA directed) nu
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMGNT2
|
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
PON1
|
paraoxonase 1
|
|
PPOX
|
protoporphyrinogen oxidase
|
|
PPP1R1B
|
protein phosphatase 1, regulatory (inhibitor) subunit 1B
|
|
PRF1
|
perforin 1 (pore forming protein)
|
|
PRG4
|
proteoglycan 4
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRKCA
|
protein kinase C, alpha
|
|
PRKCE
|
protein kinase C, epsilon
|
|
PRKCG
|
protein kinase C, gamma
|
|
PRKDC
|
protein kinase, DNA-activated, catalytic polypeptide
|
|
PRNP
|
prion protein
|
|
PROC
|
protein C (inactivator of coagulation factors Va and VIIIa)
|
|
PROM1
|
prominin 1
|
|
PROP1
|
PROP paired-like homeobox 1
|
|
PROS1
|
protein S (alpha)
|
|
PRPF31
|
pre-mRNA processing factor 31
|
|
PRPH2
|
peripherin 2 (retinal degeneration, slow)
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
PRSS1
|
protease, serine, 1 (trypsin 1)
|
|
PRSS56
|
protease, serine, 56
|
|
PSEN1
|
presenilin 1
|
|
PSEN2
|
presenilin 2
|
|
PSENEN
|
presenilin enhancer gamma secretase subunit
|
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
|
PSMD9
|
proteasome (prosome, macropain) 26S subunit, non-ATPase, 9
|
|
PSORS4
|
psoriasis susceptibility 4
|
|
PSORS9
|
psoriasis susceptibility 9
|
|
PTCH1
|
patched 1
|
|
PTGDS
|
prostaglandin D2 synthase 21kDa (brain)
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
PTPRC
|
protein tyrosine phosphatase, receptor type, C
|
|
PTPRN
|
protein tyrosine phosphatase, receptor type, N
|
|
PYCARD
|
PYD and CARD domain containing
|
|
PYGM
|
phosphorylase, glycogen, muscle
|
|
RAB18
|
RAB18, member RAS oncogene family
|
|
RAB27A
|
RAB27A, member RAS oncogene family
|
|
RAB3GAP1
|
RAB3 GTPase activating protein subunit 1 (catalytic)
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAC1
|
ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
|
|
RAD50
|
RAD50 homolog (S. cerevisiae)
|
|
RAD51C
|
RAD51 paralog C
|
|
RAD51D
|
RAD51 paralog D
|
|
RAMP2
|
receptor (G protein-coupled) activity modifying protein 2
|
|
RAPGEF4
|
Rap guanine nucleotide exchange factor (GEF) 4
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RASA1
|
RAS p21 protein activator (GTPase activating protein) 1
|
|
RB1
|
retinoblastoma 1
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
RDH5
|
retinol dehydrogenase 5 (11-cis/9-cis)
|
|
RDX
|
radixin
|
|
REEP2
|
receptor accessory protein 2
|
|
RET
|
ret proto-oncogene
|
|
RGS6
|
regulator of G-protein signaling 6
|
|
RHO
|
rhodopsin
|
|
RHOBTB2
|
Rho-related BTB domain containing 2
|
|
RLBP1
|
retinaldehyde binding protein 1
|
|
RLS4
|
Restless legs syndrome 4
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RNASEL
|
ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)
|
|
RNF180
|
ring finger protein 180
|
|
RNF8
|
ring finger protein 8, E3 ubiquitin protein ligase
|
|
RNR1
|
RNA, ribosomal cluster 1
|
|
ROBO3
|
roundabout, axon guidance receptor, homolog 3 (Drosophila)
|
|
ROGDI
|
rogdi homolog (Drosophila)
|
|
ROM1
|
retinal outer segment membrane protein 1
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RP1
|
retinitis pigmentosa 1 (autosomal dominant)
|
|
RP1L1
|
retinitis pigmentosa 1-like 1
|
|
RP2
|
retinitis pigmentosa 2 (X-linked recessive)
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RPL11
|
ribosomal protein L11
|
|
RPL5
|
ribosomal protein L5
|
|
RS1
|
retinoschisin 1
|
|
RSPH9
|
radial spoke head 9 homolog (Chlamydomonas)
|
|
RUNX1
|
runt-related transcription factor 1
|
|
RUNX2
|
runt-related transcription factor 2
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SACK1H
|
scaffolding CK1 anchoring protein H
|
|
SACS
|
sacsin molecular chaperone
|
|
SAFB
|
scaffold attachment factor B
|
|
SAFB2
|
scaffold attachment factor B2
|
|
SAMD9
|
sterile alpha motif domain containing 9
|
|
SART3
|
squamous cell carcinoma antigen recognized by T cells 3
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN1B
|
sodium channel, voltage gated, type I beta subunit
|
|
SCN2A
|
sodium channel, voltage gated, type II alpha subunit
|
|
SCN3A
|
sodium channel, voltage gated, type III alpha subunit
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SDHAF2
|
succinate dehydrogenase complex assembly factor 2
|
|
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
|
|
SEC23B
|
Sec23 homolog B (S. cerevisiae)
|
|
SELP
|
selectin P (granule membrane protein 140kDa, antigen CD62)
|
|
SEPT9
|
septin 9
|
|
SERPINA1
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
|
|
SERPINC1
|
serpin peptidase inhibitor, clade C (antithrombin), member 1
|
|
SERPING1
|
serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
|
|
SFRP4
|
secreted frizzled-related protein 4
|
|
SFTPC
|
surfactant protein C
|
|
SGCE
|
sarcoglycan, epsilon
|
|
SH2D1A
|
SH2 domain containing 1A
|
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
|
SHH
|
sonic hedgehog
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SIX1
|
SIX homeobox 1
|
|
SIX5
|
SIX homeobox 5
|
|
SLC11A1
|
solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1
|
|
SLC12A3
|
solute carrier family 12 (sodium/chloride transporter), member 3
|
|
SLC1A1
|
solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
|
|
SLC25A12
|
solute carrier family 25 (aspartate/glutamate carrier), member 12
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC28A1
|
solute carrier family 28 (concentrative nucleoside transporter), member 1
|
|
SLC28A2
|
solute carrier family 28 (concentrative nucleoside transporter), member 2
|
|
SLC28A3
|
solute carrier family 28 (concentrative nucleoside transporter), member 3
|
|
SLC29A1
|
solute carrier family 29 (equilibrative nucleoside transporter), member 1
|
|
SLC29A2
|
solute carrier family 29 (equilibrative nucleoside transporter), member 2
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
SLC2A10
|
solute carrier family 2 (facilitated glucose transporter), member 10
|
|
SLC2A2
|
solute carrier family 2 (facilitated glucose transporter), member 2
|
|
SLC2A9
|
solute carrier family 2 (facilitated glucose transporter), member 9
|
|
SLC30A1
|
solute carrier family 30 (zinc transporter), member 1
|
|
SLC30A4
|
solute carrier family 30 (zinc transporter), member 4
|
|
SLC33A1
|
solute carrier family 33 (acetyl-CoA transporter), member 1
|
|
SLC35D1
|
solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
|
|
SLC37A4
|
solute carrier family 37 (glucose-6-phosphate transporter), member 4
|
|
SLC39A1
|
solute carrier family 39 (zinc transporter), member 1
|
|
SLC39A13
|
solute carrier family 39 (zinc transporter), member 13
|
|
SLC40A1
|
solute carrier family 40 (iron-regulated transporter), member 1
|
|
SLC4A11
|
solute carrier family 4, sodium borate transporter, member 11
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SLC6A2
|
solute carrier family 6 (neurotransmitter transporter), member 2
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SLC6A4
|
solute carrier family 6 (neurotransmitter transporter), member 4
|
|
SLCO2A1
|
solute carrier organic anion transporter family, member 2A1
|
|
SLEB3
|
systemic lupus erythematosus susceptibility 3
|
|
SLEH1
|
systemic lupus erythematosus with hemolytic anemia 1
|
|
SLITRK1
|
SLIT and NTRK-like family, member 1
|
|
SLURP1
|
secreted LY6/PLAUR domain containing 1
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMAD3
|
SMAD family member 3
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
|
SMPX
|
small muscle protein, X-linked
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SNX10
|
sorting nexin 10
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SOD2
|
superoxide dismutase 2, mitochondrial
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SP4
|
Sp4 transcription factor
|
|
SPANXB1
|
SPANX family, member B1
|
|
SPAST
|
spastin
|
|
SPATS2L
|
spermatogenesis associated, serine-rich 2-like
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPINK1
|
serine peptidase inhibitor, Kazal type 1
|
|
SPRED1
|
sprouty-related, EVH1 domain containing 1
|
|
SPRR1A
|
small proline-rich protein 1A
|
|
SPRR1B
|
small proline-rich protein 1B
|
|
SPRR2A
|
small proline-rich protein 2A
|
|
SPRR2B
|
small proline-rich protein 2B
|
|
SPRR2D
|
small proline-rich protein 2D
|
|
SPRR2E
|
small proline-rich protein 2E
|
|
SPRR2F
|
small proline-rich protein 2F
|
|
SPRR2G
|
small proline-rich protein 2G
|
|
SPRR3
|
small proline-rich protein 3
|
|
SPRR4
|
small proline-rich protein 4
|
|
SPTA1
|
spectrin, alpha, erythrocytic 1
|
|
SPTBN2
|
spectrin, beta, non-erythrocytic 2
|
|
SRD5A2
|
steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
SSH1
|
slingshot protein phosphatase 1
|
|
ST8SIA1
|
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1
|
|
STAR
|
steroidogenic acute regulatory protein
|
|
STAT3
|
signal transducer and activator of transcription 3 (acute-phase response factor)
|
|
STK11
|
serine/threonine kinase 11
|
|
STS
|
steroid sulfatase (microsomal), isozyme S
|
|
STX1A
|
syntaxin 1A (brain)
|
|
STXBP2
|
syntaxin binding protein 2
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
SUMO4
|
small ubiquitin-like modifier 4
|
|
SYNE1
|
spectrin repeat containing, nuclear envelope 1
|
|
SYNE4
|
spectrin repeat containing, nuclear envelope family member 4
|
|
TAAR6
|
trace amine associated receptor 6
|
|
TACR3
|
tachykinin receptor 3
|
|
TACSTD2
|
tumor-associated calcium signal transducer 2
|
|
TARDBP
|
TAR DNA binding protein
|
|
TAS2R16
|
taste receptor, type 2, member 16
|
|
TAS2R38
|
taste receptor, type 2, member 38
|
|
TAT
|
tyrosine aminotransferase
|
|
TBP
|
TATA box binding protein
|
|
TBX22
|
T-box 22
|
|
TBX5
|
T-box 5
|
|
TCF7L2
|
transcription factor 7-like 2 (T-cell specific, HMG-box)
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TECTA
|
tectorin alpha
|
|
TEK
|
TEK tyrosine kinase, endothelial
|
|
TERC
|
telomerase RNA component
|
|
TERF2IP
|
telomeric repeat binding factor 2, interacting protein
|
|
TERT
|
telomerase reverse transcriptase
|
|
TF
|
transferrin
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TG
|
thyroglobulin
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGFBI
|
transforming growth factor, beta-induced, 68kDa
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TGM1
|
transglutaminase 1
|
|
THAP1
|
THAP domain containing, apoptosis associated protein 1
|
|
THRB
|
thyroid hormone receptor, beta
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TLR4
|
toll-like receptor 4
|
|
TMC1
|
transmembrane channel-like 1
|
|
TMC2
|
transmembrane channel-like 2
|
|
TMEM43
|
transmembrane protein 43
|
|
TMEM67
|
transmembrane protein 67
|
|
TMIE
|
transmembrane inner ear
|
|
TMLHE
|
trimethyllysine hydroxylase, epsilon
|
|
TMPRSS3
|
transmembrane protease, serine 3
|
|
TMPRSS6
|
transmembrane protease, serine 6
|
|
TNF
|
tumor necrosis factor
|
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
|
TNFRSF1B
|
tumor necrosis factor receptor superfamily, member 1B
|
|
TNNI3
|
troponin I type 3 (cardiac)
|
|
TNNT2
|
troponin T type 2 (cardiac)
|
|
TOR1A
|
torsin family 1, member A (torsin A)
|
|
TP53
|
tumor protein p53
|
|
TPH2
|
tryptophan hydroxylase 2
|
|
TPO
|
thyroid peroxidase
|
|
TRAC
|
T cell receptor alpha constant
|
|
TRB
|
T cell receptor beta locus
|
|
TRMU
|
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
|
|
TRNE
|
|
|
TRPC4AP
|
transient receptor potential cation channel, subfamily C, member 4 associated protein
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TSG101
|
tumor susceptibility 101
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
TSPAN12
|
tetraspanin 12
|
|
TTN
|
titin
|
|
TTR
|
transthyretin
|
|
TULP1
|
tubby like protein 1
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
TYR
|
tyrosinase
|
|
UBE2N
|
ubiquitin-conjugating enzyme E2N
|
|
UBE2V2
|
ubiquitin-conjugating enzyme E2 variant 2
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UBIAD1
|
UbiA prenyltransferase domain containing 1
|
|
UBQLN2
|
ubiquilin 2
|
|
UIMC1
|
ubiquitin interaction motif containing 1
|
|
UMOD
|
uromodulin
|
|
UNC13D
|
unc-13 homolog D (C. elegans)
|
|
UROD
|
uroporphyrinogen decarboxylase
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
USF1
|
upstream transcription factor 1
|
|
USH1C
|
Usher syndrome 1C (autosomal recessive, severe)
|
|
USH1G
|
Usher syndrome 1G (autosomal recessive)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
UTRN
|
utrophin
|
|
VAPB
|
VAMP (vesicle-associated membrane protein)-associated protein B and C
|
|
VCAN
|
versican
|
|
VCP
|
valosin containing protein
|
|
VCX
|
variable charge, X-linked
|
|
VCY
|
variable charge, Y-linked
|
|
VEGFA
|
vascular endothelial growth factor A
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VLDLR
|
very low density lipoprotein receptor
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
VPS35
|
vacuolar protein sorting 35 homolog (S. cerevisiae)
|
|
VPS45
|
vacuolar protein sorting 45 homolog (S. cerevisiae)
|
|
VRK1
|
vaccinia related kinase 1
|
|
VSX1
|
visual system homeobox 1
|
|
VWF
|
von Willebrand factor
|
|
WAS
|
Wiskott-Aldrich syndrome
|
|
WDR36
|
WD repeat domain 36
|
|
WDR62
|
WD repeat domain 62
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WNT10A
|
wingless-type MMTV integration site family, member 10A
|
|
WT1
|
Wilms tumor 1
|
|
XAF1
|
XIAP associated factor 1
|
|
XPA
|
xeroderma pigmentosum, complementation group A
|
|
XPC
|
xeroderma pigmentosum, complementation group C
|
|
YARS
|
tyrosyl-tRNA synthetase
|
|
YWHAH
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta
|
|
ZEB1
|
zinc finger E-box binding homeobox 1
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
|
ZNF630
|
zinc finger protein 630
|
