sporadic Gene Set

Dataset GeneRIF Biological Term Annotations
Category structural or functional annotations
Type biological term
Description Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. (Human Phenotype Ontology, HP_0003745)
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Genes

684 genes co-occuring with the biological term sporadic in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Symbol Name
A2M alpha-2-macroglobulin
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCA2 ATP-binding cassette, sub-family A (ABC1), member 2
ABCA7 ATP-binding cassette, sub-family A (ABC1), member 7
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACE angiotensin I converting enzyme
ACHE acetylcholinesterase (Yt blood group)
ACTA1 actin, alpha 1, skeletal muscle
ACTA2 actin, alpha 2, smooth muscle, aorta
ACTN4 actinin, alpha 4
ACVRL1 activin A receptor type II-like 1
ADAM17 ADAM metallopeptidase domain 17
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADAR adenosine deaminase, RNA-specific
ADARB1 adenosine deaminase, RNA-specific, B1
ADCK3 aarF domain containing kinase 3
ADCY5 adenylate cyclase 5
ADORA2A adenosine A2a receptor
ADRB2 adrenoceptor beta 2, surface
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AIP aryl hydrocarbon receptor interacting protein
AKR1B10 aldo-keto reductase family 1, member B10 (aldose reductase)
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALAS2 5'-aminolevulinate synthase 2
ALK anaplastic lymphoma receptor tyrosine kinase
ALOX5 arachidonate 5-lipoxygenase
ALPL alkaline phosphatase, liver/bone/kidney
AMACR alpha-methylacyl-CoA racemase
ANKH ANKH inorganic pyrophosphate transport regulator
ANOS1 anosmin 1
ANPEP alanyl (membrane) aminopeptidase
ANXA10 annexin A10
APC adenomatous polyposis coli
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
APH1A APH1A gamma secretase subunit
APOC3 apolipoprotein C-III
APOD apolipoprotein D
APOE apolipoprotein E
APP amyloid beta (A4) precursor protein
APTX aprataxin
AR androgen receptor
ARID1A AT rich interactive domain 1A (SWI-like)
ARL11 ADP-ribosylation factor-like 11
ATL1 atlastin GTPase 1
ATM ATM serine/threonine kinase
ATP1A1 ATPase, Na+/K+ transporting, alpha 1 polypeptide
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3
ATP2C1 ATPase, Ca++ transporting, type 2C, member 1
ATRX alpha thalassemia/mental retardation syndrome X-linked
ATXN2 ataxin 2
ATXN3 ataxin 3
AURKA aurora kinase A
AXIN2 axin 2
BACE1 beta-site APP-cleaving enzyme 1
BACE2 beta-site APP-cleaving enzyme 2
BAG3 BCL2-associated athanogene 3
BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
BCCIP BRCA2 and CDKN1A interacting protein
BCHE butyrylcholinesterase
BIK BCL2-interacting killer (apoptosis-inducing)
BIN1 bridging integrator 1
BIRC5 baculoviral IAP repeat containing 5
BIRC7 baculoviral IAP repeat containing 7
BLM Bloom syndrome, RecQ helicase-like
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRCA3 breast cancer 3
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BST1 bone marrow stromal cell antigen 1
BTBD10 BTB (POZ) domain containing 10
BTLA B and T lymphocyte associated
BTNL2 butyrophilin-like 2
C10ORF2 chromosome 10 open reading frame 2
C11ORF30 chromosome 11 open reading frame 30
C1GALT1C1 C1GALT1-specific chaperone 1
C9ORF72 chromosome 9 open reading frame 72
CAB39 calcium binding protein 39
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CALHM1 calcium homeostasis modulator 1
CARD14 caspase recruitment domain family, member 14
CASP6 caspase 6, apoptosis-related cysteine peptidase
CAST calpastatin
CAT catalase
CAV1 caveolin 1, caveolae protein, 22kDa
CAV3 caveolin 3
CCDC62 coiled-coil domain containing 62
CCL2 chemokine (C-C motif) ligand 2
CCM2 cerebral cavernous malformation 2
CCND1 cyclin D1
CCNE1 cyclin E1
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CCS copper chaperone for superoxide dismutase
CD2 CD2 molecule
CD28 CD28 molecule
CD33 CD33 molecule
CD36 CD36 molecule (thrombospondin receptor)
CD38 CD38 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CD44 CD44 molecule (Indian blood group)
CD47 CD47 molecule
CDC73 cell division cycle 73
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
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)
CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
CFH complement factor H
CHEK1 checkpoint kinase 1
CHEK2 checkpoint kinase 2
CHGB chromogranin B
CHMP2B charged multivesicular body protein 2B
CHN1 chimerin 1
CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal)
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
CHRNB4 cholinergic receptor, nicotinic, beta 4 (neuronal)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CLDN1 claudin 1
CLU clusterin
CNTF ciliary neurotrophic factor
COL1A2 collagen, type I, alpha 2
COL4A1 collagen, type IV, alpha 1
COL4A2 collagen, type IV, alpha 2
COMT catechol-O-methyltransferase
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
CPA6 carboxypeptidase A6
CR1 complement component (3b/4b) receptor 1 (Knops blood group)
CSF1R colony stimulating factor 1 receptor
CST3 cystatin C
CTBP2 C-terminal binding protein 2
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNNBIP1 catenin, beta interacting protein 1
CTSD cathepsin D
CUL3 cullin 3
CX3CR1 chemokine (C-X3-C motif) receptor 1
CXCL1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)
CXCL8 chemokine (C-X-C motif) ligand 8
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
CYP46A1 cytochrome P450, family 46, subfamily A, polypeptide 1
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DAPK1 death-associated protein kinase 1
DAXX death-domain associated protein
DCTN1 dynactin 1
DEFB103B defensin, beta 103B
DICER1 dicer 1, ribonuclease type III
DISC1 disrupted in schizophrenia 1
DMD dystrophin
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DPP6 dipeptidyl-peptidase 6
DSP desmoplakin
DUSP6 dual specificity phosphatase 6
ECE1 endothelin converting enzyme 1
EDN3 endothelin 3
EDNRB endothelin receptor type B
EFNB1 ephrin-B1
EGF epidermal growth factor
EGFR epidermal growth factor receptor
EGLN1 egl-9 family hypoxia-inducible factor 1
EIF4G1 eukaryotic translation initiation factor 4 gamma, 1
ELAC2 elaC ribonuclease Z 2
ELANE elastase, neutrophil expressed
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
ENG endoglin
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EPAS1 endothelial PAS domain protein 1
EPB41L3 erythrocyte membrane protein band 4.1-like 3
EPHB2 EPH receptor B2
EPHB4 EPH receptor B4
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
EPO erythropoietin
EPOR erythropoietin receptor
ERBB2 erb-b2 receptor tyrosine kinase 2
ERCC2 excision repair cross-complementation group 2
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
F5 coagulation factor V (proaccelerin, labile factor)
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCD2 Fanconi anemia, complementation group D2
FBN1 fibrillin 1
FBXW4 F-box and WD repeat domain containing 4
FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
FGB fibrinogen beta chain
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGGY FGGY carbohydrate kinase domain containing
FH fumarate hydratase
FHIT fragile histidine triad
FHL1 four and a half LIM domains 1
FHL2 four and a half LIM domains 2
FIGLA folliculogenesis specific basic helix-loop-helix
FKRP fukutin related protein
FLCN folliculin
FMR1 fragile X mental retardation 1
FOXC2 forkhead box C2
FOXE1 forkhead box E1
FOXL2 forkhead box L2
FOXP1 forkhead box P1
FPR2 formyl peptide receptor 2
FRK fyn-related Src family tyrosine kinase
FSHR follicle stimulating hormone receptor
FTO fat mass and obesity associated
FUS FUS RNA binding protein
FUT1 fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)
FUT2 fucosyltransferase 2 (secretor status included)
FUT3 fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)
FXN frataxin
GAB2 GRB2-associated binding protein 2
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1
GADD45A growth arrest and DNA-damage-inducible, alpha
GAK cyclin G associated kinase
GARS glycyl-tRNA synthetase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
GATA3 GATA binding protein 3
GATA4 GATA binding protein 4
GBA glucosidase, beta, acid
GCH1 GTP cyclohydrolase 1
GDAP1 ganglioside induced differentiation associated protein 1
GDF6 growth differentiation factor 6
GDNF glial cell derived neurotrophic factor
GHRH growth hormone releasing hormone
GJA1 gap junction protein, alpha 1, 43kDa
GJB2 gap junction protein, beta 2, 26kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB6 gap junction protein, beta 6, 30kDa
GKN1 gastrokine 1
GLA galactosidase, alpha
GLI3 GLI family zinc finger 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
GOLM1 golgi membrane protein 1
GPX1 glutathione peroxidase 1
GREM1 gremlin 1, DAN family BMP antagonist
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
GRK5 G protein-coupled receptor kinase 5
GRN granulin
GSK3B glycogen synthase kinase 3 beta
GSTM1 glutathione S-transferase mu 1
GSTO1 glutathione S-transferase omega 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
H2AFX H2A histone family, member X
HCRTR1 hypocretin (orexin) receptor 1
HCRTR2 hypocretin (orexin) receptor 2
HDAC11 histone deacetylase 11
HECTD2 HECT domain containing E3 ubiquitin protein ligase 2
HES7 hes family bHLH transcription factor 7
HESX1 HESX homeobox 1
HFE hemochromatosis
HIC1 hypermethylated in cancer 1
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HLA-DRA major histocompatibility complex, class II, DR alpha
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLA-DRB3 major histocompatibility complex, class II, DR beta 3
HMGA1 high mobility group AT-hook 1
HMGA2 high mobility group AT-hook 2
HMOX1 heme oxygenase 1
HNF1A HNF1 homeobox A
HNF1B HNF1 homeobox B
HOXA1 homeobox A1
HOXA2 homeobox A2
HOXB13 homeobox B13
HOXB3 homeobox B3
HOXD3 homeobox D3
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
HSF1 heat shock transcription factor 1
HSPB1 heat shock 27kDa protein 1
HSPB7 heat shock 27kDa protein family, member 7 (cardiovascular)
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled
HTRA2 HtrA serine peptidase 2
ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein
IDE insulin-degrading enzyme
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IDI1 isopentenyl-diphosphate delta isomerase 1
IDI2 isopentenyl-diphosphate delta isomerase 2
IFNG interferon, gamma
IGFBP2 insulin-like growth factor binding protein 2, 36kDa
IGFBP3 insulin-like growth factor binding protein 3
IGHMBP2 immunoglobulin mu binding protein 2
IL10 interleukin 10
IL17A interleukin 17A
IL18 interleukin 18
IL1B interleukin 1, beta
IL5RA interleukin 5 receptor, alpha
IL6 interleukin 6
ILK integrin-linked kinase
ING1 inhibitor of growth family, member 1
INS insulin
IRF6 interferon regulatory factor 6
ISL1 ISL LIM homeobox 1
ITGAV integrin, alpha V
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITGB8 integrin, beta 8
JAK2 Janus kinase 2
KCNJ5 potassium channel, inwardly rectifying subfamily J, member 5
KCNT1 potassium channel, sodium activated subfamily T, member 1
KDR kinase insert domain receptor
KHDC3L KH domain containing 3-like, subcortical maternal complex member
KIF24 kinesin family member 24
KIFAP3 kinesin-associated protein 3
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLF6 Kruppel-like factor 6
KLK4 kallikrein-related peptidase 4
KLRK1 killer cell lectin-like receptor subfamily K, member 1
KRAS Kirsten rat sarcoma viral oncogene homolog
KRIT1 KRIT1, ankyrin repeat containing
KRT19 keratin 19, type I
KRT5 keratin 5, type II
KRT6A keratin 6A, type II
LAMP2 lysosomal-associated membrane protein 2
LDLR low density lipoprotein receptor
LEMD3 LEM domain containing 3
LEPR leptin receptor
LGI1 leucine-rich, glioma inactivated 1
LILRB1 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1
LINGO1 leucine rich repeat and Ig domain containing 1
LMNA lamin A/C
LOC643387 TAR DNA binding protein pseudogene
LPL lipoprotein lipase
LRP1 low density lipoprotein receptor-related protein 1
LRP8 low density lipoprotein receptor-related protein 8, apolipoprotein e receptor
LRRK2 leucine-rich repeat kinase 2
MAGED1 melanoma antigen family D1
MAPK1 mitogen-activated protein kinase 1
MAPK8 mitogen-activated protein kinase 8
MAPT microtubule-associated protein tau
MAX MYC associated factor X
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MCF2 MCF.2 cell line derived transforming sequence
MCHR1 melanin-concentrating hormone receptor 1
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MECOM MDS1 and EVI1 complex locus
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MEN1 multiple endocrine neoplasia I
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MGMT O-6-methylguanine-DNA methyltransferase
MID1 midline 1
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MIR106A microRNA 106a
MIR148A microRNA 148a
MIR152 microRNA 152
MIR17 microRNA 17
MIR18B microRNA 18b
MIR205 microRNA 205
MIR221 microRNA 221
MIR222 microRNA 222
MIR27A microRNA 27a
MIR29A microRNA 29a
MIR29B1 microRNA 29b-1
MIR338 microRNA 338
MIR34B microRNA 34b
MKRN3 makorin ring finger protein 3
MLH1 mutL homolog 1
MME membrane metallo-endopeptidase
MMP1 matrix metallopeptidase 1
MMP3 matrix metallopeptidase 3
MMP7 matrix metallopeptidase 7
MMP9 matrix metallopeptidase 9
MNX1 motor neuron and pancreas homeobox 1
MSH2 mutS homolog 2
MSH3 mutS homolog 3
MSH6 mutS homolog 6
MST1 macrophage stimulating 1
MSX1 msh homeobox 1
MT-TL1 tRNA
MT1X metallothionein 1X
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTMR14 myotubularin related protein 14
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MUC1 mucin 1, cell surface associated
MUC5B mucin 5B, oligomeric mucus/gel-forming
MUTYH mutY homolog
MYB v-myb avian myeloblastosis viral oncogene homolog
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYH11 myosin, heavy chain 11, smooth muscle
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
N4BP2 NEDD4 binding protein 2
NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase)
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase)
NBN nibrin
NCOA3 nuclear receptor coactivator 3
NCSTN nicastrin
NDEL1 nudE neurodevelopment protein 1-like 1
NEFH neurofilament, heavy polypeptide
NF1 neurofibromin 1
NF2 neurofibromin 2 (merlin)
NFE2L2 nuclear factor, erythroid 2-like 2
NFIB nuclear factor I/B
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NGF nerve growth factor (beta polypeptide)
NIPBL Nipped-B homolog (Drosophila)
NKX2-1 NK2 homeobox 1
NKX2-3 NK2 homeobox 3
NKX2-5 NK2 homeobox 5
NLRP7 NLR family, pyrin domain containing 7
NME1 NME/NM23 nucleoside diphosphate kinase 1
NOD2 nucleotide-binding oligomerization domain containing 2
NODAL nodal growth differentiation factor
NOS1 nitric oxide synthase 1 (neuronal)
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH1 notch 1
NOTCH3 notch 3
NOTCH4 notch 4
NPC1 Niemann-Pick disease, type C1
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
NQO1 NAD(P)H dehydrogenase, quinone 1
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NSDHL NAD(P) dependent steroid dehydrogenase-like
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
NUDT1 nudix (nucleoside diphosphate linked moiety X)-type motif 1
OCLN occludin
ODC1 ornithine decarboxylase 1
OGG1 8-oxoguanine DNA glycosylase
OPA1 optic atrophy 1 (autosomal dominant)
OPTN optineurin
OTX2 orthodenticle homeobox 2
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7
PAEP progestagen-associated endometrial protein
PALLD palladin, cytoskeletal associated protein
PARK2 parkin RBR E3 ubiquitin protein ligase
PARK7 parkinson protein 7
PARP1 poly (ADP-ribose) polymerase 1
PAX2 paired box 2
PAX6 paired box 6
PAX8 paired box 8
PAX9 paired box 9
PCDH19 protocadherin 19
PDCD1 programmed cell death 1
PDCD10 programmed cell death 10
PDE8B phosphodiesterase 8B
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDPN podoplanin
PEMT phosphatidylethanolamine N-methyltransferase
PFN1 profilin 1
PGR progesterone receptor
PHEX phosphate regulating endopeptidase homolog, X-linked
PHF6 PHD finger protein 6
PHOX2B paired-like homeobox 2b
PICALM phosphatidylinositol binding clathrin assembly protein
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PINK1 PTEN induced putative kinase 1
PITX2 paired-like homeodomain 2
PITX3 paired-like homeodomain 3
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLCE1 phospholipase C, epsilon 1
POLG polymerase (DNA directed), gamma
PON1 paraoxonase 1
PON2 paraoxonase 2
PON3 paraoxonase 3
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRNP prion protein
PROK2 prokineticin 2
PROP1 PROP paired-like homeobox 1
PRPH2 peripherin 2 (retinal degeneration, slow)
PRRT2 proline-rich transmembrane protein 2
PSEN1 presenilin 1
PSEN2 presenilin 2
PSMB7 proteasome (prosome, macropain) subunit, beta type, 7
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTH parathyroid hormone
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPRG protein tyrosine phosphatase, receptor type, G
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
RAB29 RAB29, member RAS oncogene family
RAB5A RAB5A, member RAS oncogene family
RAD51 RAD51 recombinase
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAPSN receptor-associated protein of the synapse
RARB retinoic acid receptor, beta
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RASAL1 RAS protein activator like 1 (GAP1 like)
RASSF1 Ras association (RalGDS/AF-6) domain family member 1
RB1 retinoblastoma 1
RECQL4 RecQ protein-like 4
REEP1 receptor accessory protein 1
RET ret proto-oncogene
RFC1 replication factor C (activator 1) 1, 145kDa
RHOBTB2 Rho-related BTB domain containing 2
RNASEL ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)
RP1L1 retinitis pigmentosa 1-like 1
RPSA ribosomal protein SA
RUNX3 runt-related transcription factor 3
RYR2 ryanodine receptor 2 (cardiac)
SALL1 spalt-like transcription factor 1
SCGB3A1 secretoglobin, family 3A, member 1
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCN5A sodium channel, voltage gated, type V 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
SELE selectin E
SELL selectin L
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SEPT4 septin 4
SEPT9 septin 9
SERPINA3 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SETX senataxin
SFN stratifin
SFRP2 secreted frizzled-related protein 2
SFTPA1 surfactant protein A1
SGCE sarcoglycan, epsilon
SH3BP2 SH3-domain binding protein 2
SHBG sex hormone-binding globulin
SHH sonic hedgehog
SHOX short stature homeobox
SIGMAR1 sigma non-opioid intracellular receptor 1
SIRT1 sirtuin 1
SIX2 SIX homeobox 2
SKP1 S-phase kinase-associated protein 1
SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter), member 2
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC19A1 solute carrier family 19 (folate transporter), member 1
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
SLC22A4 solute carrier family 22 (organic cation/zwitterion transporter), member 4
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC4A11 solute carrier family 4, sodium borate transporter, member 11
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SMAD2 SMAD family member 2
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMC1A structural maintenance of chromosomes 1A
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SMO smoothened, frizzled class receptor
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
SORL1 sortilin-related receptor, L(DLR class) A repeats containing
SORT1 sortilin 1
SOX10 SRY (sex determining region Y)-box 10
SOX2 SRY (sex determining region Y)-box 2
SPAST spastin
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SPINK1 serine peptidase inhibitor, Kazal type 1
SPINT2 serine peptidase inhibitor, Kunitz type, 2
SQSTM1 sequestosome 1
SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
SREBF1 sterol regulatory element binding transcription factor 1
SRF serum response factor (c-fos serum response element-binding transcription factor)
SSB Sjogren syndrome antigen B (autoantigen La)
SST somatostatin
SSTR2 somatostatin receptor 2
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STK11 serine/threonine kinase 11
STK39 serine threonine kinase 39
STMN2 stathmin 2
STRADA STE20-related kinase adaptor alpha
STXBP1 syntaxin binding protein 1
SUFU suppressor of fused homolog (Drosophila)
SYT11 synaptotagmin XI
T T, brachyury homolog (mouse)
TARDBP TAR DNA binding protein
TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box)
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box)
TCOF1 Treacher Collins-Franceschetti syndrome 1
TEK TEK tyrosine kinase, endothelial
TERT telomerase reverse transcriptase
TF transferrin
TFAM transcription factor A, mitochondrial
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TH tyrosine hydroxylase
THAP1 THAP domain containing, apoptosis associated protein 1
THBS1 thrombospondin 1
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TIMP1 TIMP metallopeptidase inhibitor 1
TLL1 tolloid-like 1
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TMEM127 transmembrane protein 127
TNF tumor necrosis factor
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF14 tumor necrosis factor receptor superfamily, member 14
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TNFRSF6B tumor necrosis factor receptor superfamily, member 6b, decoy
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b
TNFSF4 tumor necrosis factor (ligand) superfamily, member 4
TNNI2 troponin I type 2 (skeletal, fast)
TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast)
TOP2A topoisomerase (DNA) II alpha 170kDa
TOR1A torsin family 1, member A (torsin A)
TP53 tumor protein p53
TP53BP1 tumor protein p53 binding protein 1
TP63 tumor protein p63
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TREX1 three prime repair exonuclease 1
TRIM37 tripartite motif containing 37
TRPC6 transient receptor potential cation channel, subfamily C, member 6
TRPM4 transient receptor potential cation channel, subfamily M, member 4
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSHR thyroid stimulating hormone receptor
TTBK1 tau tubulin kinase 1
TTN titin
TYMS thymidylate synthetase
UBB ubiquitin B
UBE2H ubiquitin-conjugating enzyme E2H
UBE3A ubiquitin protein ligase E3A
UBQLN2 ubiquilin 2
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UCP2 uncoupling protein 2 (mitochondrial, proton carrier)
UNC13A unc-13 homolog A (C. elegans)
UNC5C unc-5 homolog C (C. elegans)
UNC93A unc-93 homolog A (C. elegans)
UROD uroporphyrinogen decarboxylase
VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C
VCP valosin containing protein
VDAC1 voltage-dependent anion channel 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VSX1 visual system homeobox 1
VTCN1 V-set domain containing T cell activation inhibitor 1
WDR36 WD repeat domain 36
WFS1 Wolfram syndrome 1 (wolframin)
WIF1 WNT inhibitory factor 1
WNT10B wingless-type MMTV integration site family, member 10B
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
WNT8B wingless-type MMTV integration site family, member 8B
WT1 Wilms tumor 1
XPC xeroderma pigmentosum, complementation group C
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
XRCC3 X-ray repair complementing defective repair in Chinese hamster cells 3
XRCC6 X-ray repair complementing defective repair in Chinese hamster cells 6
YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta
YWHAH tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta
ZEB2 zinc finger E-box binding homeobox 2
ZFP57 ZFP57 zinc finger protein
ZIC3 Zic family member 3