Down Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. (Human Disease Ontology, DOID_14250)
External Link https://www.disgenet.org/browser/0/1/0/C0013080
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Genes

712 genes associated with the disease Down Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
A1BG alpha-1-B glycoprotein
A2M alpha-2-macroglobulin
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACKR3 atypical chemokine receptor 3
ACO1 aconitase 1, soluble
ACTB actin, beta
ACTR2 ARP2 actin-related protein 2 homolog (yeast)
ACTR3B ARP3 actin-related protein 3 homolog B (yeast)
ACVR1 activin A receptor, type I
ADAM12 ADAM metallopeptidase domain 12
ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif, 1
ADAR adenosine deaminase, RNA-specific
ADIPOQ adiponectin, C1Q and collagen domain containing
ADRA1A adrenoceptor alpha 1A
ADRA2B adrenoceptor alpha 2B
ADRB2 adrenoceptor beta 2, surface
AFP alpha-fetoprotein
AGA aspartylglucosaminidase
AGTR1 angiotensin II receptor, type 1
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AHSG alpha-2-HS-glycoprotein
AICDA activation-induced cytidine deaminase
AIRE autoimmune regulator
AKR7A2 aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALB albumin
AMPH amphiphysin
ANGPTL2 angiopoietin-like 2
ANK1 ankyrin 1, erythrocytic
AP5B1 adaptor-related protein complex 5, beta 1 subunit
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
APEX2 APEX nuclease (apurinic/apyrimidinic endonuclease) 2
APH1A APH1A gamma secretase subunit
APOA1 apolipoprotein A-I
APOA2 apolipoprotein A-II
APOBEC3B apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B
APOC2 apolipoprotein C-II
APOE apolipoprotein E
APP amyloid beta (A4) precursor protein
APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1
AQP4 aquaporin 4
ARHGAP24 Rho GTPase activating protein 24
ARHGEF5 Rho guanine nucleotide exchange factor (GEF) 5
ARNT aryl hydrocarbon receptor nuclear translocator
ARPP19 cAMP-regulated phosphoprotein, 19kDa
ARSA arylsulfatase A
ARSD arylsulfatase D
ARX aristaless related homeobox
ASPA aspartoacylase
ATN1 atrophin 1
AZGP1 alpha-2-glycoprotein 1, zinc-binding
B3GAT1 beta-1,3-glucuronyltransferase 1
BACE1 beta-site APP-cleaving enzyme 1
BACE2 beta-site APP-cleaving enzyme 2
BACH1 BTB and CNC homology 1, basic leucine zipper transcription factor 1
BAX BCL2-associated X protein
BCAR1 breast cancer anti-estrogen resistance 1
BCHE butyrylcholinesterase
BCL10 B-cell CLL/lymphoma 10
BCL2 B-cell CLL/lymphoma 2
BCL2L1 BCL2-like 1
BCL6 B-cell CLL/lymphoma 6
BCR breakpoint cluster region
BDKRB1 bradykinin receptor B1
BDNF brain-derived neurotrophic factor
BEST1 bestrophin 1
BGN biglycan
BHMT betaine--homocysteine S-methyltransferase
BLVRA biliverdin reductase A
BMI1 BMI1 proto-oncogene, polycomb ring finger
BRD2 bromodomain containing 2
BRS3 bombesin-like receptor 3
BRWD1 bromodomain and WD repeat domain containing 1
BST2 bone marrow stromal cell antigen 2
BTG1 B-cell translocation gene 1, anti-proliferative
C21ORF2 chromosome 21 open reading frame 2
C21ORF33 chromosome 21 open reading frame 33
C21ORF91 chromosome 21 open reading frame 91
C9 complement component 9
CA2 carbonic anhydrase II
CALB2 calbindin 2
CALCA calcitonin-related polypeptide alpha
CAMP cathelicidin antimicrobial peptide
CASP1 caspase 1, apoptosis-related cysteine peptidase
CASP3 caspase 3, apoptosis-related cysteine peptidase
CAT catalase
CBR1 carbonyl reductase 1
CBS cystathionine-beta-synthase
CCL2 chemokine (C-C motif) ligand 2
CCL4 chemokine (C-C motif) ligand 4
CCL4L1 chemokine (C-C motif) ligand 4-like 1
CCL4L2 chemokine (C-C motif) ligand 4-like 2
CCND1 cyclin D1
CCR2 chemokine (C-C motif) receptor 2
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CD14 CD14 molecule
CD19 CD19 molecule
CD247 CD247 molecule
CD34 CD34 molecule
CD38 CD38 molecule
CD46 CD46 molecule, complement regulatory protein
CD59 CD59 molecule, complement regulatory protein
CD6 CD6 molecule
CD63 CD63 molecule
CDA cytidine deaminase
CDK1 cyclin-dependent kinase 1
CDK6 cyclin-dependent kinase 6
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)
CEBPE CCAAT/enhancer binding protein (C/EBP), epsilon
CENPB centromere protein B, 80kDa
CFH complement factor H
CGA glycoprotein hormones, alpha polypeptide
CGB chorionic gonadotropin, beta polypeptide
CGB5 chorionic gonadotropin, beta polypeptide 5
CGB8 chorionic gonadotropin, beta polypeptide 8
CHAF1B chromatin assembly factor 1, subunit B (p60)
CHAT choline O-acetyltransferase
CHD5 chromodomain helicase DNA binding protein 5
CHDH choline dehydrogenase
CHL1 cell adhesion molecule L1-like
CHMP3 charged multivesicular body protein 3
CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal)
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal)
CIB1 calcium and integrin binding 1 (calmyrin)
CKAP2 cytoskeleton associated protein 2
CKAP4 cytoskeleton-associated protein 4
CLU clusterin
CNOT7 CCR4-NOT transcription complex, subunit 7
CNR1 cannabinoid receptor 1 (brain)
COL18A1 collagen, type XVIII, alpha 1
COL25A1 collagen, type XXV, alpha 1
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COL7A1 collagen, type VII, alpha 1
COMT catechol-O-methyltransferase
COPS4 COP9 signalosome subunit 4
COX5A cytochrome c oxidase subunit Va
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CP ceruloplasmin (ferroxidase)
CPE carboxypeptidase E
CPEB1 cytoplasmic polyadenylation element binding protein 1
CPOX coproporphyrinogen oxidase
CPS1 carbamoyl-phosphate synthase 1, mitochondrial
CPT1B carnitine palmitoyltransferase 1B (muscle)
CR2 complement component (3d/Epstein Barr virus) receptor 2
CRCP CGRP receptor component
CREB1 cAMP responsive element binding protein 1
CRELD1 cysteine-rich with EGF-like domains 1
CRLF2 cytokine receptor-like factor 2
CRMP1 collapsin response mediator protein 1
CRP C-reactive protein, pentraxin-related
CSE1L CSE1 chromosome segregation 1-like (yeast)
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CSF3 colony stimulating factor 3 (granulocyte)
CST3 cystatin C
CSTB cystatin B (stefin B)
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNND1 catenin (cadherin-associated protein), delta 1
CXCL8 chemokine (C-X-C motif) ligand 8
CXCR6 chemokine (C-X-C motif) receptor 6
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
DAPK2 death-associated protein kinase 2
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase)
DBN1 drebrin 1
DBP D site of albumin promoter (albumin D-box) binding protein
DCAF7 DDB1 and CUL4 associated factor 7
DCK deoxycytidine kinase
DCTN4 dynactin 4 (p62)
DENR density-regulated protein
DERL1 derlin 1
DHFR dihydrofolate reductase
DHFRL1 dihydrofolate reductase-like 1
DICER1 dicer 1, ribonuclease type III
DLX4 distal-less homeobox 4
DMD dystrophin
DNAH8 dynein, axonemal, heavy chain 8
DNASE1 deoxyribonuclease I
DNM1L dynamin 1-like
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DNMT3L DNA (cytosine-5-)-methyltransferase 3-like
DOPEY2 dopey family member 2
DPYSL2 dihydropyrimidinase-like 2
DPYSL3 dihydropyrimidinase-like 3
DPYSL4 dihydropyrimidinase-like 4
DRD4 dopamine receptor D4
DSCAM Down syndrome cell adhesion molecule
DSG1 desmoglein 1
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
E2F1 E2F transcription factor 1
EDNRA endothelin receptor type A
EDNRB endothelin receptor type B
EEF1A1 eukaryotic translation elongation factor 1 alpha 1
EEF1A2 eukaryotic translation elongation factor 1 alpha 2
EFS embryonal Fyn-associated substrate
EGFR epidermal growth factor receptor
EGR2 early growth response 2
EGR3 early growth response 3
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
EIF2S2 eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa
ELANE elastase, neutrophil expressed
ELK1 ELK1, member of ETS oncogene family
ENG endoglin
ENO2 enolase 2 (gamma, neuronal)
ENOSF1 enolase superfamily member 1
ENSA endosulfine alpha
EPAS1 endothelial PAS domain protein 1
ERBB2 erb-b2 receptor tyrosine kinase 2
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERF Ets2 repressor factor
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
ERVH48-1 endogenous retrovirus group 48, member 1
ESCO1 establishment of sister chromatid cohesion N-acetyltransferase 1
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
ETS2 v-ets avian erythroblastosis virus E26 oncogene homolog 2
ETV6 ets variant 6
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FABP3 fatty acid binding protein 3, muscle and heart
FABP5 fatty acid binding protein 5 (psoriasis-associated)
FABP7 fatty acid binding protein 7, brain
FAM3B family with sequence similarity 3, member B
FANCB Fanconi anemia, complementation group B
FBN2 fibrillin 2
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
FCGR3B Fc fragment of IgG, low affinity IIIb, receptor (CD16b)
FGFBP2 fibroblast growth factor binding protein 2
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
FLT1 fms-related tyrosine kinase 1
FLT3 fms-related tyrosine kinase 3
FMR1 fragile X mental retardation 1
FN1 fibronectin 1
FSCN1 fascin actin-bundling protein 1
FXR2 fragile X mental retardation, autosomal homolog 2
FYN FYN proto-oncogene, Src family tyrosine kinase
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GAP43 growth associated protein 43
GAPDH glyceraldehyde-3-phosphate dehydrogenase
GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA4 GATA binding protein 4
GDF15 growth differentiation factor 15
GDI2 GDP dissociation inhibitor 2
GET1 guided entry of tail-anchored proteins factor 1
GFAP glial fibrillary acidic protein
GH1 growth hormone 1
GHR growth hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GJB2 gap junction protein, beta 2, 26kDa
GLIS2 GLIS family zinc finger 2
GMNN geminin, DNA replication inhibitor
GMPPA GDP-mannose pyrophosphorylase A
GNLY granulysin
GORASP1 golgi reassembly stacking protein 1, 65kDa
GPI glucose-6-phosphate isomerase
GPR162 G protein-coupled receptor 162
GPR42 G protein-coupled receptor 42 (gene/pseudogene)
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
GPX1 glutathione peroxidase 1
GPX3 glutathione peroxidase 3
GRIK1 glutamate receptor, ionotropic, kainate 1
GSN gelsolin
GSTM2 glutathione S-transferase mu 2 (muscle)
GTF2H1 general transcription factor IIH, polypeptide 1, 62kDa
GYPA glycophorin A (MNS blood group)
GYPB glycophorin B (MNS blood group)
GYPE glycophorin E (MNS blood group)
HAP1 huntingtin-associated protein 1
HAS2 hyaluronan synthase 2
HEPACAM hepatic and glial cell adhesion molecule
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HINT1 histidine triad nucleotide binding protein 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
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HMGB1 high mobility group box 1
HMGN1 high mobility group nucleosome binding domain 1
HMOX1 heme oxygenase 1
HNMT histamine N-methyltransferase
HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1
HP haptoglobin
HPGDS hematopoietic prostaglandin D synthase
HPSE2 heparanase 2 (inactive)
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
HSP90B1 heat shock protein 90kDa beta (Grp94), member 1
HSPA13 heat shock protein 70kDa family, member 13
HSPA14 heat shock 70kDa protein 14
HSPA4 heat shock 70kDa protein 4
HSPD1 heat shock 60kDa protein 1 (chaperonin)
ICAM1 intercellular adhesion molecule 1
ICOSLG inducible T-cell co-stimulator ligand
IDE insulin-degrading enzyme
IDO1 indoleamine 2,3-dioxygenase 1
IFIT3 interferon-induced protein with tetratricopeptide repeats 3
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IFNAR1 interferon (alpha, beta and omega) receptor 1
IFNAR2 interferon (alpha, beta and omega) receptor 2
IFNG interferon, gamma
IGFBP7 insulin-like growth factor binding protein 7
IGH immunoglobulin heavy locus
IKZF1 IKAROS family zinc finger 1 (Ikaros)
IL10 interleukin 10
IL10RB interleukin 10 receptor, beta
IL15 interleukin 15
IL16 interleukin 16
IL17A interleukin 17A
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
IL2 interleukin 2
IL22 interleukin 22
IL2RA interleukin 2 receptor, alpha
IL33R interleukin 33 receptor
IL4 interleukin 4
IL6 interleukin 6
IL7 interleukin 7
IMMT inner membrane protein, mitochondrial
INHA inhibin, alpha
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
INSL4 insulin-like 4 (placenta)
IRF1 interferon regulatory factor 1
ISG20 interferon stimulated exonuclease gene 20kDa
ISL1 ISL LIM homeobox 1
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGAL integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit)
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITSN1 intersectin 1 (SH3 domain protein)
JAK2 Janus kinase 2
JAK3 Janus kinase 3
KCNA3 potassium channel, voltage gated shaker related subfamily A, member 3
KCNE1 potassium channel, voltage gated subfamily E regulatory beta subunit 1
KCNJ15 potassium channel, inwardly rectifying subfamily J, member 15
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1
KIF21A kinesin family member 21A
KISS1 KiSS-1 metastasis-suppressor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KMT2A lysine (K)-specific methyltransferase 2A
KNG1 kininogen 1
KRT8 keratin 8, type II
LAMC2 laminin, gamma 2
LBP lipopolysaccharide binding protein
LBR lamin B receptor
LEP leptin
LGALS13 lectin, galactoside-binding, soluble, 13
LHCGR luteinizing hormone/choriogonadotropin receptor
LOC102724023 ES1 protein homolog, mitochondrial
LOC102724560 cystathionine beta-synthase
LPAR2 lysophosphatidic acid receptor 2
LRP2 low density lipoprotein receptor-related protein 2
LRRC47 leucine rich repeat containing 47
LSM2 LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)
LTA4H leukotriene A4 hydrolase
LYPD4 LY6/PLAUR domain containing 4
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2
MAOA monoamine oxidase A
MAP3K14 mitogen-activated protein kinase kinase kinase 14
MAPK10 mitogen-activated protein kinase 10
MAPT microtubule-associated protein tau
MARK1 MAP/microtubule affinity-regulating kinase 1
MATR3 matrin 3
MBP myelin basic protein
MCF2L MCF.2 cell line derived transforming sequence-like
MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein
MCM3AP minichromosome maintenance complex component 3 associated protein
MCRS1 microspherule protein 1
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MDM4 MDM4, p53 regulator
MECP2 methyl CpG binding protein 2
MED25 mediator complex subunit 25
MIA3 melanoma inhibitory activity family, member 3
MME membrane metallo-endopeptidase
MMP9 matrix metallopeptidase 9
MMRN1 multimerin 1
MORC3 MORC family CW-type zinc finger 3
MOS v-mos Moloney murine sarcoma viral oncogene homolog
MPL MPL proto-oncogene, thrombopoietin receptor
MPO myeloperoxidase
MRC1 mannose receptor, C type 1
MRPL28 mitochondrial ribosomal protein L28
MRTFA myocardin related transcription factor A
MT-ATP6 ATP synthase F0 subunit 6
MT-ND3 NADH dehydrogenase, subunit 3 (complex I)
MT2A metallothionein 2A
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTNR1B melatonin receptor 1B
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MX1 MX dynamin-like GTPase 1
MYD88 myeloid differentiation primary response 88
MYL12A myosin, light chain 12A, regulatory, non-sarcomeric
MYL12B myosin, light chain 12B, regulatory
MYL7 myosin, light chain 7, regulatory
MYO9B myosin IXB
NACA nascent polypeptide-associated complex alpha subunit
NAE1 NEDD8 activating enzyme E1 subunit 1
NAIP NLR family, apoptosis inhibitory protein
NANOS3 nanos homolog 3 (Drosophila)
NCAM1 neural cell adhesion molecule 1
NCAM2 neural cell adhesion molecule 2
NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFV3 NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa
NEFH neurofilament, heavy polypeptide
NEFL neurofilament, light polypeptide
NES nestin
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NFATC2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2
NFE2L2 nuclear factor, erythroid 2-like 2
NFIA nuclear factor I/A
NFIB nuclear factor I/B
NFIC nuclear factor I/C (CCAAT-binding transcription factor)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NGF nerve growth factor (beta polypeptide)
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NKX2-5 NK2 homeobox 5
NME1 NME/NM23 nucleoside diphosphate kinase 1
NME2 NME/NM23 nucleoside diphosphate kinase 2
NOD2 nucleotide-binding oligomerization domain containing 2
NOP53 NOP53 ribosome biogenesis factor
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NPDC1 neural proliferation, differentiation and control, 1
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NR4A2 nuclear receptor subfamily 4, group A, member 2
NRIP1 nuclear receptor interacting protein 1
NT5C3A 5'-nucleotidase, cytosolic IIIA
NT5E 5'-nucleotidase, ecto (CD73)
NTF3 neurotrophin 3
NTN1 netrin 1
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
NUFIP2 nuclear fragile X mental retardation protein interacting protein 2
NUP62 nucleoporin 62kDa
NXT1 nuclear transport factor 2-like export factor 1
OCA2 oculocutaneous albinism II
OLFM1 olfactomedin 1
OLIG2 oligodendrocyte lineage transcription factor 2
OPN1SW opsin 1 (cone pigments), short-wave-sensitive
OXA1L oxidase (cytochrome c) assembly 1-like
P2RY8 purinergic receptor P2Y, G-protein coupled, 8
PABPC4 poly(A) binding protein, cytoplasmic 4 (inducible form)
PAH phenylalanine hydroxylase
PAK1 p21 protein (Cdc42/Rac)-activated kinase 1
PAK3 p21 protein (Cdc42/Rac)-activated kinase 3
PAPPA pregnancy-associated plasma protein A, pappalysin 1
PARD3 par-3 family cell polarity regulator
PARP1 poly (ADP-ribose) polymerase 1
PARP4 poly (ADP-ribose) polymerase family, member 4
PAX5 paired box 5
PAX8 paired box 8
PCNT pericentrin
PCP4 Purkinje cell protein 4
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE4B phosphodiesterase 4B, cAMP-specific
PDE4C phosphodiesterase 4C, cAMP-specific
PDE9A phosphodiesterase 9A
PDGFB platelet-derived growth factor beta polypeptide
PDXK pyridoxal (pyridoxine, vitamin B6) kinase
PDYN prodynorphin
PEMT phosphatidylethanolamine N-methyltransferase
PFKL phosphofructokinase, liver
PGD phosphogluconate dehydrogenase
PGF placental growth factor
PGPEP1 pyroglutamyl-peptidase I
PHYHIP phytanoyl-CoA 2-hydroxylase interacting protein
PICALM phosphatidylinositol binding clathrin assembly protein
PIGP phosphatidylinositol glycan anchor biosynthesis, class P
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIP4K2A phosphatidylinositol-5-phosphate 4-kinase, type II, alpha
PKNOX1 PBX/knotted 1 homeobox 1
PLA2G2D phospholipase A2, group IID
PLEK pleckstrin
PLG plasminogen
PLSCR4 phospholipid scramblase 4
PLTP phospholipid transfer protein
PML promyelocytic leukemia
POC1A POC1 centriolar protein A
POLB polymerase (DNA directed), beta
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
PON1 paraoxonase 1
POTEF POTE ankyrin domain family, member F
POU5F1 POU class 5 homeobox 1
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPP2CA protein phosphatase 2, catalytic subunit, alpha isozyme
PRDM16 PR domain containing 16
PRDX1 peroxiredoxin 1
PRDX2 peroxiredoxin 2
PRDX3 peroxiredoxin 3
PRDX6 peroxiredoxin 6
PRL prolactin
PRM3 protamine 3
PRMT2 protein arginine methyltransferase 2
PRNP prion protein
PRRT2 proline-rich transmembrane protein 2
PRRX1 paired related homeobox 1
PRRX2 paired related homeobox 2
PRSS21 protease, serine, 21 (testisin)
PSD pleckstrin and Sec7 domain containing
PSEN1 presenilin 1
PSEN2 presenilin 2
PSG5 pregnancy specific beta-1-glycoprotein 5
PSG8 pregnancy specific beta-1-glycoprotein 8
PSMA5 proteasome (prosome, macropain) subunit, alpha type, 5
PTCH1 patched 1
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTH parathyroid hormone
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN4 protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)
PTPRF protein tyrosine phosphatase, receptor type, F
PWP2 PWP2 periodic tryptophan protein homolog (yeast)
RAB4A RAB4A, member RAS oncogene family
RAB5A RAB5A, member RAS oncogene family
RACK1 receptor for activated C kinase 1
RARA retinoic acid receptor, alpha
RASSF1 Ras association (RalGDS/AF-6) domain family member 1
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1
RBM11 RNA binding motif protein 11
RBM4 RNA binding motif protein 4
RBP4 retinol binding protein 4, plasma
RCAN1 regulator of calcineurin 1
RCAN2 regulator of calcineurin 2
RCN1 reticulocalbin 1, EF-hand calcium binding domain
RECQL4 RecQ protein-like 4
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RELN reelin
REM1 RAS (RAD and GEM)-like GTP-binding 1
RENBP renin binding protein
REST RE1-silencing transcription factor
RET ret proto-oncogene
RFC1 replication factor C (activator 1) 1, 145kDa
RHD Rh blood group, D antigen
RIPK4 receptor-interacting serine-threonine kinase 4
RIPPLY3 ripply transcriptional repressor 3
RNF103-CHMP3 RNF103-CHMP3 readthrough
RNF213 ring finger protein 213
RPE65 retinal pigment epithelium-specific protein 65kDa
RPL17 ribosomal protein L17
RPLP0 ribosomal protein, large, P0
RPS19 ribosomal protein S19
RTL1 retrotransposon-like 1
RUNX1 runt-related transcription factor 1
RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
RYR2 ryanodine receptor 2 (cardiac)
S100A1 S100 calcium binding protein A1
S100B S100 calcium binding protein B
SAMSN1 SAM domain, SH3 domain and nuclear localization signals 1
SCRN1 secernin 1
SDS serine dehydratase
SEPT11 septin 11
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SERPINA3 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SET SET nuclear proto-oncogene
SETD4 SET domain containing 4
SETMAR SET domain and mariner transposase fusion gene
SFPQ splicing factor proline/glutamine-rich
SGSM3 small G protein signaling modulator 3
SH3BGR SH3 domain binding glutamate-rich protein
SH3BGRL SH3 domain binding glutamate-rich protein like
SHBG sex hormone-binding globulin
SHMT1 serine hydroxymethyltransferase 1 (soluble)
SHMT2 serine hydroxymethyltransferase 2 (mitochondrial)
SHOX short stature homeobox
SIM1 single-minded family bHLH transcription factor 1
SIM2 single-minded family bHLH transcription factor 2
SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5
SLC12A9 solute carrier family 12, member 9
SLC13A5 solute carrier family 13 (sodium-dependent citrate transporter), member 5
SLC19A1 solute carrier family 19 (folate transporter), member 1
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC5A3 solute carrier family 5 (sodium/myo-inositol cotransporter), member 3
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SNAP25 synaptosomal-associated protein, 25kDa
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SNRNP70 small nuclear ribonucleoprotein 70kDa (U1)
SNX27 sorting nexin family member 27
SOAT1 sterol O-acyltransferase 1
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
SORL1 sortilin-related receptor, L(DLR class) A repeats containing
SOX11 SRY (sex determining region Y)-box 11
SPAG5 sperm associated antigen 5
SQSTM1 sequestosome 1
SRSF6 serine/arginine-rich splicing factor 6
SRY sex determining region Y
SSTR4 somatostatin receptor 4
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STATH statherin
STIP1 stress-induced phosphoprotein 1
STMN1 stathmin 1
STMN2 stathmin 2
STRBP spermatid perinuclear RNA binding protein
STRC stereocilin
STS steroid sulfatase (microsomal), isozyme S
STX17 syntaxin 17
SUB1 SUB1 homolog (S. cerevisiae)
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SYNJ1 synaptojanin 1
SYNM synemin, intermediate filament protein
SYP synaptophysin
SYT1 synaptotagmin I
TAF8 TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa
TARDBP TAR DNA binding protein
TBX1 T-box 1
TCN2 transcobalamin II
TCP1 t-complex 1
TDP2 tyrosyl-DNA phosphodiesterase 2
TEAD4 TEA domain family member 4
TET1 tet methylcytosine dioxygenase 1
TET2 tet methylcytosine dioxygenase 2
TET3 tet methylcytosine dioxygenase 3
TFAM transcription factor A, mitochondrial
TFCP2 transcription factor CP2
TFF1 trefoil factor 1
TG thyroglobulin
TGFB1 transforming growth factor, beta 1
TGM2 transglutaminase 2
THBS1 thrombospondin 1
TIAM1 T-cell lymphoma invasion and metastasis 1
TIMP3 TIMP metallopeptidase inhibitor 3
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TMEM131 transmembrane protein 131
TMEM206 transmembrane protein 206
TMEM241 transmembrane protein 241
TMEM72 transmembrane protein 72
TMPRSS15 transmembrane protease, serine 15
TMPRSS6 transmembrane protease, serine 6
TNF tumor necrosis factor
TNFRSF10C tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TNNT2 troponin T type 2 (cardiac)
TP53 tumor protein p53
TP63 tumor protein p63
TP73 tumor protein p73
TPO thyroid peroxidase
TPTE transmembrane phosphatase with tensin homology
TREM2 triggering receptor expressed on myeloid cells 2
TRH thyrotropin-releasing hormone
TRIB1 tribbles pseudokinase 1
TRPM2 transient receptor potential cation channel, subfamily M, member 2
TRRAP transformation/transcription domain-associated protein
TSC2 tuberous sclerosis 2
TSHR thyroid stimulating hormone receptor
TTC3 tetratricopeptide repeat domain 3
TTN titin
TTR transthyretin
TUBB3 tubulin, beta 3 class III
TWIST1 twist family bHLH transcription factor 1
TXN thioredoxin
TYMS thymidylate synthetase
TYRP1 tyrosinase-related protein 1
U2AF1 U2 small nuclear RNA auxiliary factor 1
UBA3 ubiquitin-like modifier activating enzyme 3
UBB ubiquitin B
UBE3A ubiquitin protein ligase E3A
UBXN11 UBX domain protein 11
USP16 ubiquitin specific peptidase 16
USP25 ubiquitin specific peptidase 25
USP5 ubiquitin specific peptidase 5 (isopeptidase T)
USP7 ubiquitin specific peptidase 7 (herpes virus-associated)
USP9X ubiquitin specific peptidase 9, X-linked
UTRN utrophin
UVRAG UV radiation resistance associated
VAMP8 vesicle-associated membrane protein 8
VEGFA vascular endothelial growth factor A
VIP vasoactive intestinal peptide
VIPR1 vasoactive intestinal peptide receptor 1
VPREB1 pre-B lymphocyte 1
WNK1 WNK lysine deficient protein kinase 1
WT1 Wilms tumor 1
XPNPEP1 X-prolyl aminopeptidase (aminopeptidase P) 1, soluble
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1
YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma
ZBTB21 zinc finger and BTB domain containing 21
ZEB2 zinc finger E-box binding homeobox 2
ZFY zinc finger protein, Y-linked
ZMYM2 zinc finger, MYM-type 2
ZNF587B zinc finger protein 587B