premature death Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description death after weaning age, but before the normal life span (Mus: after 3 weeks of age) (Mammalian Phenotype Ontology, MP_0002083)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002083
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Genes

836 gene mutations causing the premature death phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACADL acyl-CoA dehydrogenase, long chain
ACADVL acyl-CoA dehydrogenase, very long chain
ACAN aggrecan
ACD adrenocortical dysplasia homolog (mouse)
ACE angiotensin I converting enzyme
ACHE acetylcholinesterase (Yt blood group)
ACKR3 atypical chemokine receptor 3
ACSS1 acyl-CoA synthetase short-chain family member 1
ACTA1 actin, alpha 1, skeletal muscle
ACTB actin, beta
ACTG1 actin gamma 1
ACTN4 actinin, alpha 4
ACVRL1 activin A receptor type II-like 1
ADAM17 ADAM metallopeptidase domain 17
ADAM19 ADAM metallopeptidase domain 19
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADGRF5 adhesion G protein-coupled receptor F5
AES amino-terminal enhancer of split
AFF2 AF4/FMR2 family, member 2
AGA aspartylglucosaminidase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGR2 anterior gradient 2
AGRN agrin
AHR aryl hydrocarbon receptor
AIRE autoimmune regulator
AK7 adenylate kinase 7
AKAP10 A kinase (PRKA) anchor protein 10
AKAP12 A kinase (PRKA) anchor protein 12
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALOX15 arachidonate 15-lipoxygenase
AMPH amphiphysin
ANK1 ankyrin 1, erythrocytic
ANK3 ankyrin 3, node of Ranvier (ankyrin G)
ANKH ANKH inorganic pyrophosphate transport regulator
ANP32B acidic (leucine-rich) nuclear phosphoprotein 32 family, member B
ANTXR2 anthrax toxin receptor 2
AP3B1 adaptor-related protein complex 3, beta 1 subunit
APAF1 apoptotic peptidase activating factor 1
APC adenomatous polyposis coli
APOE apolipoprotein E
APP amyloid beta (A4) precursor protein
APRT adenine phosphoribosyltransferase
AQP11 aquaporin 11
AQP2 aquaporin 2 (collecting duct)
AR androgen receptor
ARHGAP1 Rho GTPase activating protein 1
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
ARID4A AT rich interactive domain 4A (RBP1-like)
ARMC4 armadillo repeat containing 4
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ARX aristaless related homeobox
ASL argininosuccinate lyase
ASPA aspartoacylase
ASPH aspartate beta-hydroxylase
ASS1 argininosuccinate synthase 1
ASXL1 additional sex combs like transcriptional regulator 1
ASXL2 additional sex combs like transcriptional regulator 2
ATAD1 ATPase family, AAA domain containing 1
ATAD5 ATPase family, AAA domain containing 5
ATCAY ataxia, cerebellar, Cayman type
ATM ATM serine/threonine kinase
ATN1 atrophin 1
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATR ATR serine/threonine kinase
ATRN attractin
ATXN1 ataxin 1
ATXN7 ataxin 7
AURKB aurora kinase B
B3GNT5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BAD BCL2-associated agonist of cell death
BCAT2 branched chain amino-acid transaminase 2, mitochondrial
BCKDK branched chain ketoacid dehydrogenase kinase
BCL2 B-cell CLL/lymphoma 2
BCL2L11 BCL2-like 11 (apoptosis facilitator)
BCL6 B-cell CLL/lymphoma 6
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BDKRB2 bradykinin receptor B2
BDNF brain-derived neurotrophic factor
BECN1 beclin 1, autophagy related
BHLHA15 basic helix-loop-helix family, member a15
BICC1 BicC family RNA binding protein 1
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
BMP7 bone morphogenetic protein 7
BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BSN bassoon presynaptic cytomatrix protein
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
C1QA complement component 1, q subcomponent, A chain
CA12 carbonic anhydrase XII
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CAMK2A calcium/calmodulin-dependent protein kinase II alpha
CAMK4 calcium/calmodulin-dependent protein kinase IV
CAPN5 calpain 5
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CBS cystathionine-beta-synthase
CBX2 chromobox homolog 2
CCDC88A coiled-coil domain containing 88A
CCR10 chemokine (C-C motif) receptor 10
CD151 CD151 molecule (Raph blood group)
CD22 CD22 molecule
CD2AP CD2-associated protein
CD47 CD47 molecule
CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35)
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
CDON cell adhesion associated, oncogene regulated
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CEBPE CCAAT/enhancer binding protein (C/EBP), epsilon
CECR2 cat eye syndrome chromosome region, candidate 2
CELF4 CUGBP, Elav-like family member 4
CENPB centromere protein B, 80kDa
CERS1 ceramide synthase 1
CFC1 cripto, FRL-1, cryptic family 1
CFH complement factor H
CFL1 cofilin 1 (non-muscle)
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHD2 chromodomain helicase DNA binding protein 2
CHD7 chromodomain helicase DNA binding protein 7
CHFR checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase
CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CHUK conserved helix-loop-helix ubiquitous kinase
CISD2 CDGSH iron sulfur domain 2
CLCN1 chloride channel, voltage-sensitive 1
CLCN3 chloride channel, voltage-sensitive 3
CLCN7 chloride channel, voltage-sensitive 7
CLDN4 claudin 4
CLEC16A C-type lectin domain family 16, member A
CLEC1B C-type lectin domain family 1, member B
CLN3 ceroid-lipofuscinosis, neuronal 3
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CLP1 cleavage and polyadenylation factor I subunit 1
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
CNP 2',3'-cyclic nucleotide 3' phosphodiesterase
CNR1 cannabinoid receptor 1 (brain)
CNTNAP1 contactin associated protein 1
COL10A1 collagen, type X, alpha 1
COL1A1 collagen, type I, alpha 1
COL3A1 collagen, type III, alpha 1
COL4A1 collagen, type IV, alpha 1
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A4 collagen, type IV, alpha 4
COL4A5 collagen, type IV, alpha 5
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
COMMD3-BMI1 COMMD3-BMI1 readthrough
COQ9 coenzyme Q9
COX7A1 cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)
CPLX1 complexin 1
CREBBP CREB binding protein
CRHR1 corticotropin releasing hormone receptor 1
CSF1 colony stimulating factor 1 (macrophage)
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTC1 CTS telomere maintenance complex component 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSA cathepsin A
CTSD cathepsin D
CTSF cathepsin F
CTSG cathepsin G
CUBN cubilin (intrinsic factor-cobalamin receptor)
CUL9 cullin 9
CUX1 cut-like homeobox 1
CXCL12 chemokine (C-X-C motif) ligand 12
CYCS cytochrome c, somatic
CYLD cylindromatosis (turban tumor syndrome)
CYS1 cystin 1
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila)
DAND5 DAN domain family member 5, BMP antagonist
DAZAP1 DAZ associated protein 1
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase)
DCLRE1A DNA cross-link repair 1A
DCR Down syndrome chromosome region
DCX doublecortin
DDB2 damage-specific DNA binding protein 2, 48kDa
DEGS1 delta(4)-desaturase, sphingolipid 1
DERL2 derlin 2
DES desmin
DLL1 delta-like 1 (Drosophila)
DLX1 distal-less homeobox 1
DMRT3 doublesex and mab-3 related transcription factor 3
DNAJC3 DnaJ (Hsp40) homolog, subfamily C, member 3
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DNASE1 deoxyribonuclease I
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DRD1 dopamine receptor D1
DRD2 dopamine receptor D2
DST dystonin
E2F1 E2F transcription factor 1
E2F2 E2F transcription factor 2
E2F3 E2F transcription factor 3
E2F4 E2F transcription factor 4, p107/p130-binding
E2F5 E2F transcription factor 5, p130-binding
EAF2 ELL associated factor 2
EBF1 early B-cell factor 1
ECM1 extracellular matrix protein 1
EDARADD EDAR-associated death domain
EDN2 endothelin 2
EDN3 endothelin 3
EDNRB endothelin receptor type B
EEF1A2 eukaryotic translation elongation factor 1 alpha 2
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
EFNB2 ephrin-B2
EGFR epidermal growth factor receptor
EIF3M eukaryotic translation initiation factor 3, subunit M
ELK3 ELK3, ETS-domain protein (SRF accessory protein 2)
EN1 engrailed homeobox 1
ENG endoglin
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EPB41L3 erythrocyte membrane protein band 4.1-like 3
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC5 excision repair cross-complementation group 5
ERRFI1 ERBB receptor feedback inhibitor 1
ETHE1 ethylmalonic encephalopathy 1
ETV1 ets variant 1
EXO1 exonuclease 1
EXT1 exostosin glycosyltransferase 1
F13A1 coagulation factor XIII, A1 polypeptide
F3 coagulation factor III (thromboplastin, tissue factor)
F7 coagulation factor VII (serum prothrombin conversion accelerator)
F9 coagulation factor IX
FADS1 fatty acid desaturase 1
FANCM Fanconi anemia, complementation group M
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FBN1 fibrillin 1
FBXL20 F-box and leucine-rich repeat protein 20
FBXO4 F-box protein 4
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
FEZF2 FEZ family zinc finger 2
FGA fibrinogen alpha chain
FGF23 fibroblast growth factor 23
FGFR3 fibroblast growth factor receptor 3
FHIT fragile histidine triad
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP1A FK506 binding protein 1A, 12kDa
FKBP1B FK506 binding protein 1B, 12.6 kDa
FLNA filamin A, alpha
FLNB filamin B, beta
FLT3 fms-related tyrosine kinase 3
FN1 fibronectin 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXA2 forkhead box A2
FOXF1 forkhead box F1
FOXN1 forkhead box N1
FOXO3 forkhead box O3
FOXP2 forkhead box P2
FOXP3 forkhead box P3
FUS FUS RNA binding protein
FXN frataxin
FXR1 fragile X mental retardation, autosomal homolog 1
FZD4 frizzled class receptor 4
FZD9 frizzled class receptor 9
FZR1 fizzy/cell division cycle 20 related 1 (Drosophila)
G6PC glucose-6-phosphatase, catalytic subunit
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1
GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
GADD45A growth arrest and DNA-damage-inducible, alpha
GALC galactosylceramidase
GAN gigaxonin
GAP43 growth associated protein 43
GARS glycyl-tRNA synthetase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCG glucagon
GDF7 growth differentiation factor 7
GFI1 growth factor independent 1 transcription repressor
GGT1 gamma-glutamyltransferase 1
GIMAP1-GIMAP5 GIMAP1-GIMAP5 readthrough
GJA1 gap junction protein, alpha 1, 43kDa
GLB1 galactosidase, beta 1
GLI2 GLI family zinc finger 2
GLIS2 GLIS family zinc finger 2
GLRA1 glycine receptor, alpha 1
GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNG3 guanine nucleotide binding protein (G protein), gamma 3
GNPAT glyceronephosphate O-acyltransferase
GOLM1 golgi membrane protein 1
GPX7 glutathione peroxidase 7
GRIA2 glutamate receptor, ionotropic, AMPA 2
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRM1 glutamate receptor, metabotropic 1
GRN granulin
GSN gelsolin
GSTK1 glutathione S-transferase kappa 1
GSTZ1 glutathione S-transferase zeta 1
GSX1 GS homeobox 1
GUCY1B3 guanylate cyclase 1, soluble, beta 3
GUSB glucuronidase, beta
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HAX1 HCLS1 associated protein X-1
HBEGF heparin-binding EGF-like growth factor
HCN2 hyperpolarization activated cyclic nucleotide gated potassium channel 2
HELT helt bHLH transcription factor
HEXB hexosaminidase B (beta polypeptide)
HIP1 huntingtin interacting protein 1
HLA-DMA major histocompatibility complex, class II, DM alpha
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HMGB1 high mobility group box 1
HMOX1 heme oxygenase 1
HNF1A HNF1 homeobox A
HOXB2 homeobox B2
HOXB8 homeobox B8
HOXC4 homeobox C4
HPRT1 hypoxanthine phosphoribosyltransferase 1
HR hair growth associated
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPG2 heparan sulfate proteoglycan 2
HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
HTR3A 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic
HTRA2 HtrA serine peptidase 2
HTT huntingtin
HYAL2 hyaluronoglucosaminidase 2
HYDIN HYDIN, axonemal central pair apparatus protein
ICA1 islet cell autoantigen 1, 69kDa
ICAM1 intercellular adhesion molecule 1
ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IGHM immunoglobulin heavy constant mu
IGHMBP2 immunoglobulin mu binding protein 2
IKZF1 IKAROS family zinc finger 1 (Ikaros)
IKZF3 IKAROS family zinc finger 3 (Aiolos)
IL10 interleukin 10
IL1RN interleukin 1 receptor antagonist
IL2 interleukin 2
IL2RA interleukin 2 receptor, alpha
IL2RB interleukin 2 receptor, beta
IL4R interleukin 4 receptor
IL6ST interleukin 6 signal transducer
ING1 inhibitor of growth family, member 1
INHA inhibin, alpha
INHBA inhibin, beta A
INHBB inhibin, beta B
INPP4A inositol polyphosphate-4-phosphatase, type I, 107kDa
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
INS insulin
IQGAP2 IQ motif containing GTPase activating protein 2
IRF2 interferon regulatory factor 2
IRF8 interferon regulatory factor 8
IRS1 insulin receptor substrate 1
IRS2 insulin receptor substrate 2
ITGA11 integrin, alpha 11
ITGA7 integrin, alpha 7
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
ITPKB inositol-trisphosphate 3-kinase B
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
ITSN1 intersectin 1 (SH3 domain protein)
JAK2 Janus kinase 2
JAK3 Janus kinase 3
KALRN kalirin, RhoGEF kinase
KAT6A K(lysine) acetyltransferase 6A
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNA2 potassium channel, voltage gated shaker related subfamily A, member 2
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
KCNN3 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
KDM6A lysine (K)-specific demethylase 6A
KIF22 kinesin family member 22
KIF26A kinesin family member 26A
KIF27 kinesin family member 27
KIRREL kin of IRRE like (Drosophila)
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KL klotho
KLF3 Kruppel-like factor 3 (basic)
KLF8 Kruppel-like factor 8
KLHL20 kelch-like family member 20
KLK4 kallikrein-related peptidase 4
KMT2A lysine (K)-specific methyltransferase 2A
KPNA1 karyopherin alpha 1 (importin alpha 5)
KRAS Kirsten rat sarcoma viral oncogene homolog
LACTB2 lactamase, beta 2
LAMA2 laminin, alpha 2
LAMA5 laminin, alpha 5
LAMP2 lysosomal-associated membrane protein 2
LARGE like-glycosyltransferase
LAT linker for activation of T cells
LBR lamin B receptor
LDB3 LIM domain binding 3
LEP leptin
LEPR leptin receptor
LGI1 leucine-rich, glioma inactivated 1
LGR4 leucine-rich repeat containing G protein-coupled receptor 4
LHX3 LIM homeobox 3
LHX8 LIM homeobox 8
LIG4 ligase IV, DNA, ATP-dependent
LIPA lipase A, lysosomal acid, cholesterol esterase
LMNA lamin A/C
LMX1A LIM homeobox transcription factor 1, alpha
LPIN1 lipin 1
LRIG2 leucine-rich repeats and immunoglobulin-like domains 2
LRRC7 leucine rich repeat containing 7
LYN LYN proto-oncogene, Src family tyrosine kinase
LYZ lysozyme
MAN2A1 mannosidase, alpha, class 2A, member 1
MAP1B microtubule-associated protein 1B
MAP3K14 mitogen-activated protein kinase kinase kinase 14
MAPK3 mitogen-activated protein kinase 3
MAPKAPK5 mitogen-activated protein kinase-activated protein kinase 5
MBOAT7 membrane bound O-acyltransferase domain containing 7
MBP myelin basic protein
MCM2 minichromosome maintenance complex component 2
MCM4 minichromosome maintenance complex component 4
MCOLN1 mucolipin 1
MCPH1 microcephalin 1
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MECP2 methyl CpG binding protein 2
MED30 mediator complex subunit 30
MEF2A myocyte enhancer factor 2A
MEG3 maternally expressed 3 (non-protein coding)
MEN1 multiple endocrine neoplasia I
MET MET proto-oncogene, receptor tyrosine kinase
MGP matrix Gla protein
MGRN1 mahogunin ring finger 1, E3 ubiquitin protein ligase
MIR128-2 microRNA 128-2
MIR9-2 microRNA 9-2
MITF microphthalmia-associated transcription factor
MLH1 mutL homolog 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MPV17 MpV17 mitochondrial inner membrane protein
MPZ myelin protein zero
MRVI1 murine retrovirus integration site 1 homolog
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MSI1 musashi RNA-binding protein 1
MSRA methionine sulfoxide reductase A
MTA2 metastasis associated 1 family, member 2
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTM1 myotubularin 1
MTSS1 metastasis suppressor 1
MTUS1 microtubule associated tumor suppressor 1
MUC2 mucin 2, oligomeric mucus/gel-forming
MUC5B mucin 5B, oligomeric mucus/gel-forming
MUS81 MUS81 structure-specific endonuclease subunit
MUSK muscle, skeletal, receptor tyrosine kinase
MXI1 MAX interactor 1, dimerization protein
MYB v-myb avian myeloblastosis viral oncogene homolog
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYH11 myosin, heavy chain 11, smooth muscle
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYO5A myosin VA (heavy chain 12, myoxin)
MZF1 myeloid zinc finger 1
NAGLU N-acetylglucosaminidase, alpha
NAPA N-ethylmaleimide-sensitive factor attachment protein, alpha
NAPB N-ethylmaleimide-sensitive factor attachment protein, beta
NCOA3 nuclear receptor coactivator 3
NDFIP1 Nedd4 family interacting protein 1
NDRG1 N-myc downstream regulated 1
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NEK1 NIMA-related kinase 1
NEK8 NIMA-related kinase 8
NEU1 sialidase 1 (lysosomal sialidase)
NEUROD2 neuronal differentiation 2
NEUROD4 neuronal differentiation 4
NFE2L2 nuclear factor, erythroid 2-like 2
NFIA nuclear factor I/A
NFIC nuclear factor I/C (CCAAT-binding transcription factor)
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 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
NGF nerve growth factor (beta polypeptide)
NHLH1 nescient helix loop helix 1
NINJ1 ninjurin 1
NIPBL Nipped-B homolog (Drosophila)
NKX2-2 NK2 homeobox 2
NLK nemo-like kinase
NODAL nodal growth differentiation factor
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH1 notch 1
NOTCH3 notch 3
NOTO notochord homeobox
NPAS4 neuronal PAS domain protein 4
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NPHP3 nephronophthisis 3 (adolescent)
NPR1 natriuretic peptide receptor 1
NPR2 natriuretic peptide receptor 2
NPR3 natriuretic peptide receptor 3
NR1H2 nuclear receptor subfamily 1, group H, member 2
NR5A1 nuclear receptor subfamily 5, group A, member 1
NRK Nik related kinase
NRP1 neuropilin 1
NTAN1 N-terminal asparagine amidase
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
OCA2 oculocutaneous albinism II
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OPHN1 oligophrenin 1
OSTM1 osteopetrosis associated transmembrane protein 1
OTC ornithine carbamoyltransferase
OTX1 orthodenticle homeobox 1
OTX2 orthodenticle homeobox 2
OXT oxytocin/neurophysin I prepropeptide
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PARK2 parkin RBR E3 ubiquitin protein ligase
PARL presenilin associated, rhomboid-like
PAX5 paired box 5
PAX6 paired box 6
PAX7 paired box 7
PAX8 paired box 8
PCGF2 polycomb group ring finger 2
PCLO piccolo presynaptic cytomatrix protein
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase
PDCD1 programmed cell death 1
PDCD4 programmed cell death 4 (neoplastic transformation inhibitor)
PDGFA platelet-derived growth factor alpha polypeptide
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
PER2 period circadian clock 2
PEX1 peroxisomal biogenesis factor 1
PFDN1 prefoldin subunit 1
PFDN5 prefoldin subunit 5
PFKM phosphofructokinase, muscle
PHIP pleckstrin homology domain interacting protein
PI4K2A phosphatidylinositol 4-kinase type 2 alpha
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PITPNA phosphatidylinositol transfer protein, alpha
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)
PLAU plasminogen activator, urokinase
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PLG plasminogen
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLP1 proteolipid protein 1
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNPLA2 patatin-like phospholipase domain containing 2
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POLE polymerase (DNA directed), epsilon, catalytic subunit
POLG polymerase (DNA directed), gamma
POU4F3 POU class 4 homeobox 3
PPARG peroxisome proliferator-activated receptor gamma
PPIB peptidylprolyl isomerase B (cyclophilin B)
PPM1D protein phosphatase, Mg2+/Mn2+ dependent, 1D
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
PPT1 palmitoyl-protein thioesterase 1
PPT2 palmitoyl-protein thioesterase 2
PRDM2 PR domain containing 2, with ZNF domain
PRDX1 peroxiredoxin 1
PRF1 perforin 1 (pore forming protein)
PRKCD protein kinase C, delta
PRKCDBP protein kinase C, delta binding protein
PRKDC protein kinase, DNA-activated, catalytic polypeptide
PRKG1 protein kinase, cGMP-dependent, type I
PRNP prion protein
PROP1 PROP paired-like homeobox 1
PSAP prosaposin
PSEN1 presenilin 1
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN2 protein tyrosine phosphatase, non-receptor type 2
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PTPRC protein tyrosine phosphatase, receptor type, C
PTPRD protein tyrosine phosphatase, receptor type, D
PTPRS protein tyrosine phosphatase, receptor type, S
PTS 6-pyruvoyltetrahydropterin synthase
PURA purine-rich element binding protein A
QKI QKI, KH domain containing, RNA binding
RAB8A RAB8A, member RAS oncogene family
RABGGTA Rab geranylgeranyltransferase, alpha subunit
RAD23B RAD23 homolog B (S. cerevisiae)
RAD50 RAD50 homolog (S. cerevisiae)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RARA retinoic acid receptor, alpha
RARG retinoic acid receptor, gamma
RASAL2 RAS protein activator like 2
RASSF1 Ras association (RalGDS/AF-6) domain family member 1
RASSF2 Ras association (RalGDS/AF-6) domain family member 2
RASSF9 Ras association (RalGDS/AF-6) domain family (N-terminal) member 9
RB1 retinoblastoma 1
RBBP8 retinoblastoma binding protein 8
RBL1 retinoblastoma-like 1
RECQL4 RecQ protein-like 4
REL v-rel avian reticuloendotheliosis viral oncogene homolog
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
RELN reelin
RET ret proto-oncogene
RFX4 regulatory factor X, 4 (influences HLA class II expression)
RGN regucalcin
RHBDF1 rhomboid 5 homolog 1 (Drosophila)
RIMS2 regulating synaptic membrane exocytosis 2
RINT1 RAD50 interactor 1
RND3 Rho family GTPase 3
RNF8 ring finger protein 8, E3 ubiquitin protein ligase
ROCK1 Rho-associated, coiled-coil containing protein kinase 1
ROCK2 Rho-associated, coiled-coil containing protein kinase 2
RPA1 replication protein A1, 70kDa
RPS7 ribosomal protein S7
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
RUNX2 runt-related transcription factor 2
RXRG retinoid X receptor, gamma
S1PR2 sphingosine-1-phosphate receptor 2
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SAMD4A sterile alpha motif domain containing 4A
SAMD9L sterile alpha motif domain containing 9-like
SAV1 salvador family WW domain containing protein 1
SCARB2 scavenger receptor class B, member 2
SCN1A sodium channel, voltage gated, type I alpha subunit
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
SCYL1 SCY1-like 1 (S. cerevisiae)
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEPP1 selenoprotein P, plasma, 1
SERP1 stress-associated endoplasmic reticulum protein 1
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SERPINI2 serpin peptidase inhibitor, clade I (pancpin), member 2
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SGMS1 sphingomyelin synthase 1
SGPL1 sphingosine-1-phosphate lyase 1
SGSH N-sulfoglucosamine sulfohydrolase
SH3BP2 SH3-domain binding protein 2
SIAH1 siah E3 ubiquitin protein ligase 1
SIRT1 sirtuin 1
SIRT6 sirtuin 6
SIRT7 sirtuin 7
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC17A7 solute carrier family 17 (vesicular glutamate transporter), member 7
SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC19A3 solute carrier family 19 (thiamine transporter), member 3
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC26A3 solute carrier family 26 (anion exchanger), member 3
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4
SLC30A5 solute carrier family 30 (zinc transporter), member 5
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC4A10 solute carrier family 4, sodium bicarbonate transporter, member 10
SLC4A2 solute carrier family 4 (anion exchanger), member 2
SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC7A10 solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
SLC9A3R1 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
SLIT3 slit homolog 3 (Drosophila)
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMG1 SMG1 phosphatidylinositol 3-kinase-related kinase
SMN1 survival of motor neuron 1, telomeric
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SNAP25 synaptosomal-associated protein, 25kDa
SOCS1 suppressor of cytokine signaling 1
SOCS7 suppressor of cytokine signaling 7
SOS1 son of sevenless homolog 1 (Drosophila)
SOX1 SRY (sex determining region Y)-box 1
SOX2 SRY (sex determining region Y)-box 2
SP4 Sp4 transcription factor
SP6 Sp6 transcription factor
SPAG6 sperm associated antigen 6
SPEF2 sperm flagellar 2
SPI1 Spi-1 proto-oncogene
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
SPRY1 sprouty homolog 1, antagonist of FGF signaling (Drosophila)
SPRY2 sprouty homolog 2 (Drosophila)
SPTA1 spectrin, alpha, erythrocytic 1
SPTB spectrin, beta, erythrocytic
SPTBN1 spectrin, beta, non-erythrocytic 1
SPTBN4 spectrin, beta, non-erythrocytic 4
SQSTM1 sequestosome 1
SRC SRC proto-oncogene, non-receptor tyrosine kinase
SRGAP3 SLIT-ROBO Rho GTPase activating protein 3
SS18L1 synovial sarcoma translocation gene on chromosome 18-like 1
SSBP2 single-stranded DNA binding protein 2
STAG1 stromal antigen 1
STAM signal transducing adaptor molecule (SH3 domain and ITAM motif) 1
STIM2 stromal interaction molecule 2
STK11 serine/threonine kinase 11
STK36 serine/threonine kinase 36
STRBP spermatid perinuclear RNA binding protein
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
STX1B syntaxin 1B
SULF1 sulfatase 1
SULF2 sulfatase 2
SUMF1 sulfatase modifying factor 1
SURF1 surfeit 1
SV2A synaptic vesicle glycoprotein 2A
TANK TRAF family member-associated NFKB activator
TAX1BP1 Tax1 (human T-cell leukemia virus type I) binding protein 1
TBCE tubulin folding cofactor E
TBX3 T-box 3
TCF3 transcription factor 3
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TDGF1 teratocarcinoma-derived growth factor 1
TENM3 teneurin transmembrane protein 3
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TET2 tet methylcytosine dioxygenase 2
TFCP2L1 transcription factor CP2-like 1
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)
TGM2 transglutaminase 2
THBS2 thrombospondin 2
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TIMM23 translocase of inner mitochondrial membrane 23 homolog (yeast)
TIMP3 TIMP metallopeptidase inhibitor 3
TK1 thymidine kinase 1, soluble
TLR2 toll-like receptor 2
TLX2 T-cell leukemia homeobox 2
TNF tumor necrosis factor
TNFAIP3 tumor necrosis factor, alpha-induced protein 3
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNIP1 TNFAIP3 interacting protein 1
TNNT2 troponin T type 2 (cardiac)
TNS2 tensin 2
TOP3B topoisomerase (DNA) III beta
TP53 tumor protein p53
TP53BP1 tumor protein p53 binding protein 1
TP63 tumor protein p63
TP73 tumor protein p73
TPBG trophoblast glycoprotein
TPH2 tryptophan hydroxylase 2
TPO thyroid peroxidase
TPP1 tripeptidyl peptidase I
TPP2 tripeptidyl peptidase II
TPT1 tumor protein, translationally-controlled 1
TRAF3IP2 TRAF3 interacting protein 2
TRAK1 trafficking protein, kinesin binding 1
TREX1 three prime repair exonuclease 1
TRIB2 tribbles pseudokinase 2
TRIM54 tripartite motif containing 54
TROVE2 TROVE domain family, member 2
TRPC3 transient receptor potential cation channel, subfamily C, member 3
TRPM6 transient receptor potential cation channel, subfamily M, member 6
TSC1 tuberous sclerosis 1
TSHR thyroid stimulating hormone receptor
TSTA3 tissue specific transplantation antigen P35B
TTC7A tetratricopeptide repeat domain 7A
TTN titin
TUSC2 tumor suppressor candidate 2
TWSG1 twisted gastrulation BMP signaling modulator 1
TYR tyrosinase
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UGT8 UDP glycosyltransferase 8
UIMC1 ubiquitin interaction motif containing 1
ULK4 unc-51 like kinase 4
UNC93B1 unc-93 homolog B1 (C. elegans)
UNG uracil-DNA glycosylase
UOX urate oxidase, pseudogene
UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
USF2 upstream transcription factor 2, c-fos interacting
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
USP18 ubiquitin specific peptidase 18
VAMP8 vesicle-associated membrane protein 8
VAX1 ventral anterior homeobox 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VIP vasoactive intestinal peptide
VKORC1 vitamin K epoxide reductase complex, subunit 1
VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae)
VTI1B vesicle transport through interaction with t-SNAREs 1B
WASF1 WAS protein family, member 1
WNT3A wingless-type MMTV integration site family, member 3A
WNT9B wingless-type MMTV integration site family, member 9B
WT1 Wilms tumor 1
WWOX WW domain containing oxidoreductase
WWTR1 WW domain containing transcription regulator 1
XDH xanthine dehydrogenase
ZBTB20 zinc finger and BTB domain containing 20
ZC3H12A zinc finger CCCH-type containing 12A
ZDHHC13 zinc finger, DHHC-type containing 13
ZEB1 zinc finger E-box binding homeobox 1
ZFHX3 zinc finger homeobox 3
ZFP36 ZFP36 ring finger protein
ZIC1 Zic family member 1
ZIC3 Zic family member 3
ZIC5 Zic family member 5
ZMPSTE24 zinc metallopeptidase STE24
ZNF148 zinc finger protein 148
ZNF24 zinc finger protein 24
ZNF423 zinc finger protein 423