defects Gene Set

Dataset GeneRIF Biological Term Annotations
Category structural or functional annotations
Type biological term
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Genes

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

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
ACE angiotensin I converting enzyme
ACE2 angiotensin I converting enzyme 2
ACP2 acid phosphatase 2, lysosomal
ACTC1 actin, alpha, cardiac muscle 1
ACTN4 actinin, alpha 4
ACTR2 ARP2 actin-related protein 2 homolog (yeast)
ACTR3 ARP3 actin-related protein 3 homolog (yeast)
ACVR1 activin A receptor, type I
ACVRL1 activin A receptor type II-like 1
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADCY6 adenylate cyclase 6
ADIPOQ adiponectin, C1Q and collagen domain containing
AGER advanced glycosylation end product-specific receptor
AGFG1 ArfGAP with FG repeats 1
AGRN agrin
AGXT alanine-glyoxylate aminotransferase
AHI1 Abelson helper integration site 1
AHSG alpha-2-HS-glycoprotein
AICDA activation-induced cytidine deaminase
AIRE autoimmune regulator
AKAP12 A kinase (PRKA) anchor protein 12
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
ALPK1 alpha-kinase 1
ALPL alkaline phosphatase, liver/bone/kidney
AMELX amelogenin, X-linked
AMER1 APC membrane recruitment protein 1
AMHR2 anti-Mullerian hormone receptor, type II
AMT aminomethyltransferase
ANOS1 anosmin 1
ANTXR2 anthrax toxin receptor 2
AP2S1 adaptor-related protein complex 2, sigma 1 subunit
APC adenomatous polyposis coli
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
APLN apelin
APLNR apelin receptor
APOA1 apolipoprotein A-I
APOB apolipoprotein B
APOC3 apolipoprotein C-III
APP amyloid beta (A4) precursor protein
AR androgen receptor
ARHGAP31 Rho GTPase activating protein 31
ARHGAP6 Rho GTPase activating protein 6
ARHGEF7 Rho guanine nucleotide exchange factor (GEF) 7
ARL13B ADP-ribosylation factor-like 13B
ARMC4 armadillo repeat containing 4
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASIC2 acid sensing (proton gated) ion channel 2
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATM ATM serine/threonine kinase
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATRX alpha thalassemia/mental retardation syndrome X-linked
AURKA aurora kinase A
AURKB aurora kinase B
AVP arginine vasopressin
AXIN2 axin 2
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BAAT bile acid CoA:amino acid N-acyltransferase
BACE1 beta-site APP-cleaving enzyme 1
BBS1 Bardet-Biedl syndrome 1
BBS4 Bardet-Biedl syndrome 4
BCR breakpoint cluster region
BEST1 bestrophin 1
BFSP2 beaded filament structural protein 2, phakinin
BHLHE40 basic helix-loop-helix family, member e40
BIN1 bridging integrator 1
BIRC5 baculoviral IAP repeat containing 5
BLM Bloom syndrome, RecQ helicase-like
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
BMP7 bone morphogenetic protein 7
BMPER BMP binding endothelial regulator
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BNC2 basonuclin 2
BOD1 biorientation of chromosomes in cell division 1
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C10ORF11 chromosome 10 open reading frame 11
C12ORF65 chromosome 12 open reading frame 65
C3 complement component 3
C4A complement component 4A (Rodgers blood group)
CABP2 calcium binding protein 2
CALM1 calmodulin 1 (phosphorylase kinase, delta)
CALR calreticulin
CANX calnexin
CAPN3 calpain 3, (p94)
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CASP8 caspase 8, apoptosis-related cysteine peptidase
CAV3 caveolin 3
CBFB core-binding factor, beta subunit
CBS cystathionine-beta-synthase
CBX5 chromobox homolog 5
CCDC39 coiled-coil domain containing 39
CCDC40 coiled-coil domain containing 40
CCL5 chemokine (C-C motif) ligand 5
CD2 CD2 molecule
CD274 CD274 molecule
CD36 CD36 molecule (thrombospondin receptor)
CD38 CD38 molecule
CD4 CD4 molecule
CD40LG CD40 ligand
CD44 CD44 molecule (Indian blood group)
CD74 CD74 molecule, major histocompatibility complex, class II invariant chain
CDC42 cell division cycle 42
CDK12 cyclin-dependent kinase 12
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
CDX2 caudal type homeobox 2
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CENPE centromere protein E, 312kDa
CEP290 centrosomal protein 290kDa
CERS3 ceramide synthase 3
CFAP53 cilia and flagella associated protein 53
CFH complement factor H
CFHR1 complement factor H-related 1
CFI complement factor I
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHD7 chromodomain helicase DNA binding protein 7
CHEK2 checkpoint kinase 2
CHL1 cell adhesion molecule L1-like
CHMP2B charged multivesicular body protein 2B
CHMP4C charged multivesicular body protein 4C
CHSY1 chondroitin sulfate synthase 1
CLCN5 chloride channel, voltage-sensitive 5
CLCN7 chloride channel, voltage-sensitive 7
CLDN1 claudin 1
CLIP2 CAP-GLY domain containing linker protein 2
CLN9 ceroid-lipofuscinosis, neuronal 9
CNGA3 cyclic nucleotide gated channel alpha 3
CNGB3 cyclic nucleotide gated channel beta 3
CNTNAP1 contactin associated protein 1
COL1A2 collagen, type I, alpha 2
COL6A2 collagen, type VI, alpha 2
COMT catechol-O-methyltransferase
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
CORIN corin, serine peptidase
CPS1 carbamoyl-phosphate synthase 1, mitochondrial
CR2 complement component (3d/Epstein Barr virus) receptor 2
CRELD1 cysteine-rich with EGF-like domains 1
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CRYGC crystallin, gamma C
CS citrate synthase
CSMD1 CUB and Sushi multiple domains 1
CTF1 cardiotrophin 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTRC chymotrypsin C (caldecrin)
CTTN cortactin
CXCL12 chemokine (C-X-C motif) ligand 12
CXCR4 chemokine (C-X-C motif) receptor 4
CXXC1 CXXC finger protein 1
CYLD cylindromatosis (turban tumor syndrome)
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
DACT1 dishevelled-binding antagonist of beta-catenin 1
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DAOA D-amino acid oxidase activator
DAXX death-domain associated protein
DAZL deleted in azoospermia-like
DCC DCC netrin 1 receptor
DCLRE1A DNA cross-link repair 1A
DCTN1 dynactin 1
DDR2 discoidin domain receptor tyrosine kinase 2
DDX1 DEAD (Asp-Glu-Ala-Asp) box helicase 1
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial
DEL9P Chromosome 9p deletion syndrome
DFNB31 deafness, autosomal recessive 31
DGKA diacylglycerol kinase, alpha 80kDa
DHFR dihydrofolate reductase
DKC1 dyskeratosis congenita 1, dyskerin
DLAT dihydrolipoamide S-acetyltransferase
DLX3 distal-less homeobox 3
DMC1 DNA meiotic recombinase 1
DMD dystrophin
DMPK dystrophia myotonica-protein kinase
DNAAF3 dynein, axonemal, assembly factor 3
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNAI1 dynein, axonemal, intermediate chain 1
DNAI2 dynein, axonemal, intermediate chain 2
DNAJB1 DnaJ (Hsp40) homolog, subfamily B, member 1
DNM1L dynamin 1-like
DNM2 dynamin 2
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DRC1 dynein regulatory complex subunit 1
DRD3 dopamine receptor D3
DSG1 desmoglein 1
DSG3 desmoglein 3
DSPP dentin sialophosphoprotein
DTNA dystrobrevin, alpha
DVL2 dishevelled segment polarity protein 2
DVL3 dishevelled segment polarity protein 3
E2F1 E2F transcription factor 1
E4F1 E4F transcription factor 1
EDN1 endothelin 1
EDNRA endothelin receptor type A
EDNRB endothelin receptor type B
EED embryonic ectoderm development
EGF epidermal growth factor
EGFR epidermal growth factor receptor
EGLN1 egl-9 family hypoxia-inducible factor 1
EGLN2 egl-9 family hypoxia-inducible factor 2
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EIF2S1 eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa
EIF3E eukaryotic translation initiation factor 3, subunit E
EIF5A eukaryotic translation initiation factor 5A
ENG endoglin
ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
ERBB4 erb-b2 receptor tyrosine kinase 4
ERCC2 excision repair cross-complementation group 2
ESR1 estrogen receptor 1
ETFDH electron-transferring-flavoprotein dehydrogenase
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EWSR1 EWS RNA-binding protein 1
EXO1 exonuclease 1
EYA1 EYA transcriptional coactivator and phosphatase 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
F8 coagulation factor VIII, procoagulant component
F9 coagulation factor IX
FANCA Fanconi anemia, complementation group A
FAS Fas cell surface death receptor
FBLN5 fibulin 5
FBN1 fibrillin 1
FERMT1 fermitin family member 1
FERMT3 fermitin family member 3
FGA fibrinogen alpha chain
FGF10 fibroblast growth factor 10
FGF2 fibroblast growth factor 2 (basic)
FGG fibrinogen gamma chain
FH fumarate hydratase
FKRP fukutin related protein
FLCN folliculin
FLG filaggrin
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FMN1 formin 1
FMR1 fragile X mental retardation 1
FN1 fibronectin 1
FOLH1 folate hydrolase (prostate-specific membrane antigen) 1
FOXC1 forkhead box C1
FOXE1 forkhead box E1
FOXG1 forkhead box G1
FOXH1 forkhead box H1
FOXL2 forkhead box L2
FOXN3 forkhead box N3
FOXO1 forkhead box O1
FOXO3 forkhead box O3
FOXP1 forkhead box P1
FOXP3 forkhead box P3
FRMD7 FERM domain containing 7
FTL ferritin, light polypeptide
FTO fat mass and obesity associated
FUS FUS RNA binding protein
FUZ fuzzy planar cell polarity protein
FZD6 frizzled class receptor 6
G6PC3 glucose 6 phosphatase, catalytic, 3
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GALE UDP-galactose-4-epimerase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA4 GATA binding protein 4
GATA6 GATA binding protein 6
GBA glucosidase, beta, acid
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCH1 GTP cyclohydrolase 1
GCK glucokinase (hexokinase 4)
GCKR glucokinase (hexokinase 4) regulator
GDF1 growth differentiation factor 1
GDF6 growth differentiation factor 6
GDNF glial cell derived neurotrophic factor
GEN1 GEN1 Holliday junction 5' flap endonuclease
GFM1 G elongation factor, mitochondrial 1
GGA1 golgi-associated, gamma adaptin ear containing, ARF binding protein 1
GGA2 golgi-associated, gamma adaptin ear containing, ARF binding protein 2
GGA3 golgi-associated, gamma adaptin ear containing, ARF binding protein 3
GH1 growth hormone 1
GHR growth hormone receptor
GHRH growth hormone releasing hormone
GJA1 gap junction protein, alpha 1, 43kDa
GJB1 gap junction protein, beta 1, 32kDa
GJB2 gap junction protein, beta 2, 26kDa
GLDC glycine dehydrogenase (decarboxylating)
GLE1 GLE1 RNA export mediator
GLI2 GLI family zinc finger 2
GMPPB GDP-mannose pyrophosphorylase B
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPSM2 G-protein signaling modulator 2
GREM1 gremlin 1, DAN family BMP antagonist
GRK1 G protein-coupled receptor kinase 1
GRK7 G protein-coupled receptor kinase 7
GSTM1 glutathione S-transferase mu 1
GSTO1 glutathione S-transferase omega 1
GSTT1 glutathione S-transferase theta 1
GSX2 GS homeobox 2
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
H19 H19, imprinted maternally expressed transcript (non-protein coding)
H2AFX H2A histone family, member X
H3F3A H3 histone, family 3A
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HAMP hepcidin antimicrobial peptide
HAND1 heart and neural crest derivatives expressed 1
HAND2 heart and neural crest derivatives expressed 2
HAVCR2 hepatitis A virus cellular receptor 2
HAX1 HCLS1 associated protein X-1
HBA2 hemoglobin, alpha 2
HBB hemoglobin, beta
HBD hemoglobin, delta
HCCS holocytochrome c synthase
HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4
HDAC1 histone deacetylase 1
HDAC6 histone deacetylase 6
HES7 hes family bHLH transcription factor 7
HFE hemochromatosis
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HHEX hematopoietically expressed homeobox
HIC2 hypermethylated in cancer 2
HIP1 huntingtin interacting protein 1
HIP1R huntingtin interacting protein 1 related
HIST3H3 histone cluster 3, H3
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HMBS hydroxymethylbilane synthase
HNF1A HNF1 homeobox A
HOPX HOP homeobox
HPRT1 hypoxanthine phosphoribosyltransferase 1
HRAS Harvey rat sarcoma viral oncogene homolog
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
HSPA1A heat shock 70kDa protein 1A
HSPA8 heat shock 70kDa protein 8
HSPB8 heat shock 22kDa protein 8
HTT huntingtin
IDE insulin-degrading enzyme
IDO1 indoleamine 2,3-dioxygenase 1
IDS iduronate 2-sulfatase
IFNG interferon, gamma
IFNGR1 interferon gamma receptor 1
IFT172 intraflagellar transport 172
IFT88 intraflagellar transport 88
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGF2 insulin-like growth factor 2
IGF2R insulin-like growth factor 2 receptor
IGFALS insulin-like growth factor binding protein, acid labile subunit
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL10 interleukin 10
IL1B interleukin 1, beta
IL2 interleukin 2
IL21 interleukin 21
IL6 interleukin 6
IL7 interleukin 7
IL7R interleukin 7 receptor
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INS insulin
IRAK4 interleukin-1 receptor-associated kinase 4
IRF9 interferon regulatory factor 9
IRGM immunity-related GTPase family, M
ISPD isoprenoid synthase domain containing
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGA5 integrin, alpha 5 (fibronectin receptor, alpha polypeptide)
ITGA9 integrin, alpha 9
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit)
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JAG1 jagged 1
JAK1 Janus kinase 1
JAK2 Janus kinase 2
JAK3 Janus kinase 3
JARID2 jumonji, AT rich interactive domain 2
JUP junction plakoglobin
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KDM6B lysine (K)-specific demethylase 6B
KEL Kell blood group, metallo-endopeptidase
KIF11 kinesin family member 11
KIF18A kinesin family member 18A
KIF2C kinesin family member 2C
KIF4A kinesin family member 4A
KLF3 Kruppel-like factor 3 (basic)
KRT14 keratin 14, type I
KRT5 keratin 5, type II
LAMA2 laminin, alpha 2
LAMA3 laminin, alpha 3
LAMP1 lysosomal-associated membrane protein 1
LARGE like-glycosyltransferase
LARS2 leucyl-tRNA synthetase 2, mitochondrial
LATS2 large tumor suppressor kinase 2
LDHB lactate dehydrogenase B
LEP leptin
LEPR leptin receptor
LHB luteinizing hormone beta polypeptide
LHX2 LIM homeobox 2
LIF leukemia inhibitory factor
LMAN1L lectin, mannose-binding, 1 like
LMNA lamin A/C
LMNB1 lamin B1
LOXL1 lysyl oxidase-like 1
LPIN1 lipin 1
LPIN2 lipin 2
LPIN3 lipin 3
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LRP6 low density lipoprotein receptor-related protein 6
LRRC6 leucine rich repeat containing 6
MAD2L1 MAD2 mitotic arrest deficient-like 1 (yeast)
MAG myelin associated glycoprotein
MAP3K5 mitogen-activated protein kinase kinase kinase 5
MAP7 microtubule-associated protein 7
MAPK1 mitogen-activated protein kinase 1
MAPRE1 microtubule-associated protein, RP/EB family, member 1
MAPT microtubule-associated protein tau
MBNL1 muscleblind-like splicing regulator 1
MBP myelin basic protein
MCFD2 multiple coagulation factor deficiency 2
MCOLN1 mucolipin 1
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MECP2 methyl CpG binding protein 2
MEIS2 Meis homeobox 2
MEN1 multiple endocrine neoplasia I
MESDC2 mesoderm development candidate 2
MET MET proto-oncogene, receptor tyrosine kinase
MFN2 mitofusin 2
MFRP membrane frizzled-related protein
MFSD8 major facilitator superfamily domain containing 8
MGMT O-6-methylguanine-DNA methyltransferase
MIR1-1 microRNA 1-1
MIR10A microRNA 10a
MIR10B microRNA 10b
MIR125B1 microRNA 125b-1
MIR17 microRNA 17
MIR181C microRNA 181c
MIR197 microRNA 197
MIR31 microRNA 31
MIR9-2 microRNA 9-2
MIR9-3 microRNA 9-3
MITF microphthalmia-associated transcription factor
MKI67 marker of proliferation Ki-67
MKRN3 makorin ring finger protein 3
MKS1 Meckel syndrome, type 1
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1
MLH1 mutL homolog 1
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MME membrane metallo-endopeptidase
MMP9 matrix metallopeptidase 9
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MSH2 mutS homolog 2
MSH3 mutS homolog 3
MSH6 mutS homolog 6
MSX2 msh homeobox 2
MTFMT mitochondrial methionyl-tRNA formyltransferase
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTM1 myotubularin 1
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MUT methylmalonyl CoA mutase
MUTYH mutY homolog
MYH11 myosin, heavy chain 11, smooth muscle
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYH9 myosin, heavy chain 9, non-muscle
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYO5B myosin VB
MYO6 myosin VI
MYOC myocilin, trabecular meshwork inducible glucocorticoid response
NAA60 N(alpha)-acetyltransferase 60, NatF catalytic subunit
NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase)
NBAS neuroblastoma amplified sequence
NBN nibrin
NCAPG non-SMC condensin I complex, subunit G
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NDE1 nudE neurodevelopment protein 1
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NEDD9 neural precursor cell expressed, developmentally down-regulated 9
NEFL neurofilament, light polypeptide
NEFM neurofilament, medium polypeptide
NEK2 NIMA-related kinase 2
NEK8 NIMA-related kinase 8
NEUROD2 neuronal differentiation 2
NF1 neurofibromin 1
NFIA nuclear factor I/A
NHEJ1 nonhomologous end-joining factor 1
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
NIPBL Nipped-B homolog (Drosophila)
NKX2-5 NK2 homeobox 5
NLGN2 neuroligin 2
NOD2 nucleotide-binding oligomerization domain containing 2
NODAL nodal growth differentiation factor
NONO non-POU domain containing, octamer-binding
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH1 notch 1
NPC1 Niemann-Pick disease, type C1
NPHP3 nephronophthisis 3 (adolescent)
NPHP4 nephronophthisis 4
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NPPA natriuretic peptide A
NPPB natriuretic peptide B
NQO1 NAD(P)H dehydrogenase, quinone 1
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR2E1 nuclear receptor subfamily 2, group E, member 1
NR3C2 nuclear receptor subfamily 3, group C, member 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NRSN2 neurensin 2
NRXN1 neurexin 1
NTN1 netrin 1
NUP153 nucleoporin 153kDa
NUP62 nucleoporin 62kDa
OFD1 oral-facial-digital syndrome 1
OPA1 optic atrophy 1 (autosomal dominant)
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OPTN optineurin
P2RY12 purinergic receptor P2Y, G-protein coupled, 12
PAH phenylalanine hydroxylase
PALB2 partner and localizer of BRCA2
PANK2 pantothenate kinase 2
PAPOLG poly(A) polymerase gamma
PARK2 parkin RBR E3 ubiquitin protein ligase
PARK7 parkinson protein 7
PAX3 paired box 3
PAX9 paired box 9
PBX3 pre-B-cell leukemia homeobox 3
PCSK1 proprotein convertase subtilisin/kexin type 1
PCSK9 proprotein convertase subtilisin/kexin type 9
PDE11A phosphodiesterase 11A
PDGFB platelet-derived growth factor beta polypeptide
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDLIM1 PDZ and LIM domain 1
PHC1 polyhomeotic homolog 1 (Drosophila)
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PITX2 paired-like homeodomain 2
PITX3 paired-like homeodomain 3
PKLR pyruvate kinase, liver and RBC
PKP2 plakophilin 2
PLEK pleckstrin
PLIN1 perilipin 1
PLK1 polo-like kinase 1
PLN phospholamban
PLXNA2 plexin A2
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POLG polymerase (DNA directed), gamma
POMC proopiomelanocortin
POR P450 (cytochrome) oxidoreductase
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPP1CC protein phosphatase 1, catalytic subunit, gamma isozyme
PPP6C protein phosphatase 6, catalytic subunit
PRF1 perforin 1 (pore forming protein)
PRICKLE1 prickle homolog 1 (Drosophila)
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKCA protein kinase C, alpha
PRKG1 protein kinase, cGMP-dependent, type I
PRMT1 protein arginine methyltransferase 1
PRMT3 protein arginine methyltransferase 3
PRMT8 protein arginine methyltransferase 8
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROP1 PROP paired-like homeobox 1
PROS1 protein S (alpha)
PRPF3 pre-mRNA processing factor 3
PRPF31 pre-mRNA processing factor 31
PRPF8 pre-mRNA processing factor 8
PRSS1 protease, serine, 1 (trypsin 1)
PSAP prosaposin
PSEN1 presenilin 1
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTGIR prostaglandin I2 (prostacyclin) receptor (IP)
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTK2 protein tyrosine kinase 2
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PUF60 poly-U binding splicing factor 60KDa
RAB27A RAB27A, member RAS oncogene family
RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
RAD21 RAD21 homolog (S. pombe)
RAD51 RAD51 recombinase
RAD51B RAD51 paralog B
RAD51C RAD51 paralog C
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RB1 retinoblastoma 1
RBBP8 retinoblastoma binding protein 8
RBM28 RNA binding motif protein 28
RBM5 RNA binding motif protein 5
RECQL4 RecQ protein-like 4
RELN reelin
RET ret proto-oncogene
RFC1 replication factor C (activator 1) 1, 145kDa
RHOH ras homolog family member H
RIN2 Ras and Rab interactor 2
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNF168 ring finger protein 168, E3 ubiquitin protein ligase
RNF20 ring finger protein 20, E3 ubiquitin protein ligase
RNF40 ring finger protein 40, E3 ubiquitin protein ligase
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROCK2 Rho-associated, coiled-coil containing protein kinase 2
RPA1 replication protein A1, 70kDa
RPIA ribose 5-phosphate isomerase A
RSPH4A radial spoke head 4 homolog A (Chlamydomonas)
RSPH9 radial spoke head 9 homolog (Chlamydomonas)
RUNX1 runt-related transcription factor 1
RYR2 ryanodine receptor 2 (cardiac)
S100A8 S100 calcium binding protein A8
S100A9 S100 calcium binding protein A9
S100B S100 calcium binding protein B
SALL4 spalt-like transcription factor 4
SATB2 SATB homeobox 2
SBDS Shwachman-Bodian-Diamond syndrome
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SCRIB scribbled planar cell polarity protein
SEC23IP SEC23 interacting protein
SEC24B SEC24 family member B
SECISBP2 SECIS binding protein 2
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEMA3C sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
SENP5 SUMO1/sentrin specific peptidase 5
SEPT4 septin 4
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SETD2 SET domain containing 2
SETX senataxin
SGOL1 shugoshin-like 1 (S. pombe)
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHH sonic hedgehog
SHOX short stature homeobox
SIRT1 sirtuin 1
SIRT3 sirtuin 3
SIX2 SIX homeobox 2
SKI SKI proto-oncogene
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae)
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1
SLC19A1 solute carrier family 19 (folate transporter), member 1
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC26A3 solute carrier family 26 (anion exchanger), member 3
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC26A8 solute carrier family 26 (anion exchanger), member 8
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
SLC27A5 solute carrier family 27 (fatty acid transporter), member 5
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC39A14 solute carrier family 39 (zinc transporter), member 14
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC45A2 solute carrier family 45, member 2
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC4A11 solute carrier family 4, sodium borate transporter, member 11
SLC52A1 solute carrier family 52 (riboflavin transporter), member 1
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1
SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5
SLITRK1 SLIT and NTRK-like family, member 1
SLN sarcolipin
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SMOC2 SPARC related modular calcium binding 2
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SMPD2 sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SOD1 superoxide dismutase 1, soluble
SOX11 SRY (sex determining region Y)-box 11
SOX12 SRY (sex determining region Y)-box 12
SOX2 SRY (sex determining region Y)-box 2
SPAST spastin
SPEN spen family transcriptional repressor
SPG38 spastic paraplegia 38 (autosomal dominant, Silver syndrome)
SPIB Spi-B transcription factor (Spi-1/PU.1 related)
SPIDR scaffolding protein involved in DNA repair
SPINK1 serine peptidase inhibitor, Kazal type 1
SPINK5 serine peptidase inhibitor, Kazal type 5
SPTAN1 spectrin, alpha, non-erythrocytic 1
SQSTM1 sequestosome 1
SRC SRC proto-oncogene, non-receptor tyrosine kinase
SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
SRP14 signal recognition particle 14kDa (homologous Alu RNA binding protein)
STAG3 stromal antigen 3
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT2 signal transducer and activator of transcription 2, 113kDa
STAT5B signal transducer and activator of transcription 5B
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced
STMN1 stathmin 1
STOML2 stomatin (EPB72)-like 2
STRA6 stimulated by retinoic acid 6
STS steroid sulfatase (microsomal), isozyme S
STX11 syntaxin 11
SUCLG1 succinate-CoA ligase, alpha subunit
SUFU suppressor of fused homolog (Drosophila)
SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1
SUMO1 small ubiquitin-like modifier 1
SUN1 Sad1 and UNC84 domain containing 1
SUV39H1 suppressor of variegation 3-9 homolog 1 (Drosophila)
SUZ12 SUZ12 polycomb repressive complex 2 subunit
T T, brachyury homolog (mouse)
TACC2 transforming, acidic coiled-coil containing protein 2
TAL1 T-cell acute lymphocytic leukemia 1
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
TAPBP TAP binding protein (tapasin)
TARDBP TAR DNA binding protein
TAZ tafazzin
TBX1 T-box 1
TBX18 T-box 18
TBX2 T-box 2
TBX20 T-box 20
TBX3 T-box 3
TBX5 T-box 5
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box)
TCN2 transcobalamin II
TDGF1 teratocarcinoma-derived growth factor 1
TEAD4 TEA domain family member 4
TERC telomerase RNA component
TERF2 telomeric repeat binding factor 2
TERT telomerase reverse transcriptase
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TG thyroglobulin
TGFB1 transforming growth factor, beta 1
TGFB3 transforming growth factor, beta 3
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TGIF1 TGFB-induced factor homeobox 1
THRA thyroid hormone receptor, alpha
TLR1 toll-like receptor 1
TLR9 toll-like receptor 9
TMEM165 transmembrane protein 165
TMEM5 transmembrane protein 5
TMEM67 transmembrane protein 67
TMPRSS6 transmembrane protease, serine 6
TNF tumor necrosis factor
TNFAIP3 tumor necrosis factor, alpha-induced protein 3
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b
TNNI3 troponin I type 3 (cardiac)
TNPO3 transportin 3
TOR1A torsin family 1, member A (torsin A)
TOR1AIP2 torsin A interacting protein 2
TP53 tumor protein p53
TP63 tumor protein p63
TPO thyroid peroxidase
TRADD TNFRSF1A-associated via death domain
TREM2 triggering receptor expressed on myeloid cells 2
TRNT1 tRNA nucleotidyl transferase, CCA-adding, 1
TSC1 tuberous sclerosis 1
TSHR thyroid stimulating hormone receptor
TTC7A tetratricopeptide repeat domain 7A
TTK TTK protein kinase
TTPA tocopherol (alpha) transfer protein
TUBA1A tubulin, alpha 1a
TUBB1 tubulin, beta 1 class VI
TUBB3 tubulin, beta 3 class III
TYK2 tyrosine kinase 2
TYMP thymidine phosphorylase
TYMS thymidylate synthetase
TYROBP TYRO protein tyrosine kinase binding protein
UBQLN2 ubiquilin 2
UCP2 uncoupling protein 2 (mitochondrial, proton carrier)
UGDH UDP-glucose 6-dehydrogenase
UNC13D unc-13 homolog D (C. elegans)
UNC5C unc-5 homolog C (C. elegans)
USH2A Usher syndrome 2A (autosomal recessive, mild)
USP16 ubiquitin specific peptidase 16
VANGL1 VANGL planar cell polarity protein 1
VANGL2 VANGL planar cell polarity protein 2
VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C
VASP vasodilator-stimulated phosphoprotein
VAV1 vav 1 guanine nucleotide exchange factor
VAV3 vav 3 guanine nucleotide exchange factor
VCP valosin containing protein
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VSX2 visual system homeobox 2
VWF von Willebrand factor
WAPAL wings apart-like homolog (Drosophila)
WAS Wiskott-Aldrich syndrome
WDR36 WD repeat domain 36
WNK1 WNK lysine deficient protein kinase 1
WT1 Wilms tumor 1
WT1-AS WT1 antisense RNA
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1
XRCC3 X-ray repair complementing defective repair in Chinese hamster cells 3
XRN2 5'-3' exoribonuclease 2
YAP1 Yes-associated protein 1
YY1AP1 YY1 associated protein 1
ZC3H14 zinc finger CCCH-type containing 14
ZDHHC17 zinc finger, DHHC-type containing 17
ZIC2 Zic family member 2