dysfunction Gene Set

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

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

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
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
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ABCC10 ATP-binding cassette, sub-family C (CFTR/MRP), member 10
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
ACAD9 acyl-CoA dehydrogenase family, member 9
ACADSB acyl-CoA dehydrogenase, short/branched chain
ACE angiotensin I converting enzyme
ACE2 angiotensin I converting enzyme 2
ACP5 acid phosphatase 5, tartrate resistant
ACTA2 actin, alpha 2, smooth muscle, aorta
ACTC1 actin, alpha, cardiac muscle 1
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADIPOQ adiponectin, C1Q and collagen domain containing
ADIPOR2 adiponectin receptor 2
ADM adrenomedullin
ADM2 adrenomedullin 2
ADORA2A adenosine A2a receptor
ADRA1A adrenoceptor alpha 1A
ADRB1 adrenoceptor beta 1
ADRB2 adrenoceptor beta 2, surface
ADRBK1 adrenergic, beta, receptor kinase 1
AFP alpha-fetoprotein
AGER advanced glycosylation end product-specific receptor
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AGTR2 angiotensin II receptor, type 2
AHSG alpha-2-HS-glycoprotein
AICDA activation-induced cytidine deaminase
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase)
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALB albumin
ALDH1A1 aldehyde dehydrogenase 1 family, member A1
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
ALDOB aldolase B, fructose-bisphosphate
ALMS1 Alstrom syndrome protein 1
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
AMPD1 adenosine monophosphate deaminase 1
ANG angiogenin, ribonuclease, RNase A family, 5
ANGPT1 angiopoietin 1
ANGPT2 angiopoietin 2
ANGPTL2 angiopoietin-like 2
ANK2 ankyrin 2, neuronal
ANXA1 annexin A1
ANXA5 annexin A5
APC adenomatous polyposis coli
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
APH1B APH1B gamma secretase subunit
APLN apelin
APOA1 apolipoprotein A-I
APOA5 apolipoprotein A-V
APOE apolipoprotein E
APOH apolipoprotein H (beta-2-glycoprotein I)
APOL1 apolipoprotein L, 1
APP amyloid beta (A4) precursor protein
APTX aprataxin
AQP7 aquaporin 7
AR androgen receptor
AREG amphiregulin
ARG1 arginase 1
ARG2 arginase 2
ATF3 activating transcription factor 3
ATM ATM serine/threonine kinase
ATP13A2 ATPase type 13A2
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
ATP4B ATPase, H+/K+ exchanging, beta polypeptide
ATP5J ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2
ATP6V1H ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATRX alpha thalassemia/mental retardation syndrome X-linked
ATXN3 ataxin 3
ATXN7 ataxin 7
AURKB aurora kinase B
AVP arginine vasopressin
AXL AXL receptor tyrosine kinase
B2M beta-2-microglobulin
BASP1 brain abundant, membrane attached signal protein 1
BAX BCL2-associated X protein
BBC3 BCL2 binding component 3
BCL2 B-cell CLL/lymphoma 2
BCL2L1 BCL2-like 1
BDNF brain-derived neurotrophic factor
BECN1 beclin 1, autophagy related
BEST1 bestrophin 1
BHLHE23 basic helix-loop-helix family, member e23
BIRC3 baculoviral IAP repeat containing 3
BIRC5 baculoviral IAP repeat containing 5
BMP4 bone morphogenetic protein 4
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BSG basigin (Ok blood group)
C10ORF2 chromosome 10 open reading frame 2
C12ORF65 chromosome 12 open reading frame 65
C3 complement component 3
C4B complement component 4B (Chido blood group)
C5 complement component 5
C5AR1 complement component 5a receptor 1
C9ORF72 chromosome 9 open reading frame 72
CA9 carbonic anhydrase IX
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CALCA calcitonin-related polypeptide alpha
CAMK2D calcium/calmodulin-dependent protein kinase II delta
CAMK2G calcium/calmodulin-dependent protein kinase II gamma
CAPN2 calpain 2, (m/II) large subunit
CAPNS1 calpain, small subunit 1
CASP14 caspase 14, apoptosis-related cysteine peptidase
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP6 caspase 6, apoptosis-related cysteine peptidase
CASR calcium-sensing receptor
CAT catalase
CAV1 caveolin 1, caveolae protein, 22kDa
CAV3 caveolin 3
CCL2 chemokine (C-C motif) ligand 2
CCL3 chemokine (C-C motif) ligand 3
CCL4 chemokine (C-C motif) ligand 4
CCNT1 cyclin T1
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CD14 CD14 molecule
CD160 CD160 molecule
CD163 CD163 molecule
CD209 CD209 molecule
CD22 CD22 molecule
CD244 CD244 molecule, natural killer cell receptor 2B4
CD247 CD247 molecule
CD274 CD274 molecule
CD28 CD28 molecule
CD34 CD34 molecule
CD36 CD36 molecule (thrombospondin receptor)
CD38 CD38 molecule
CD4 CD4 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CD40LG CD40 ligand
CD44 CD44 molecule (Indian blood group)
CD48 CD48 molecule
CD82 CD82 molecule
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDH5 cadherin 5, type 2 (vascular endothelium)
CDHR1 cadherin-related family member 1
CDK16 cyclin-dependent kinase 16
CDK5 cyclin-dependent kinase 5
CDK9 cyclin-dependent kinase 9
CDKAL1 CDK5 regulatory subunit associated protein 1-like 1
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CEL carboxyl ester lipase
CEP41 centrosomal protein 41kDa
CFH complement factor H
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHD7 chromodomain helicase DNA binding protein 7
CHD8 chromodomain helicase DNA binding protein 8
CHGA chromogranin A
CHGB chromogranin B
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39)
CHRM2 cholinergic receptor, muscarinic 2
CHRM3 cholinergic receptor, muscarinic 3
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CLCN1 chloride channel, voltage-sensitive 1
CLDN11 claudin 11
CLDN7 claudin 7
CLIC4 chloride intracellular channel 4
CLN3 ceroid-lipofuscinosis, neuronal 3
CLOCK clock circadian regulator
CLRN1 clarin 1
CLU clusterin
CNGA3 cyclic nucleotide gated channel alpha 3
CNGB3 cyclic nucleotide gated channel beta 3
CNN1 calponin 1, basic, smooth muscle
COCH cochlin
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COMT catechol-O-methyltransferase
COX1
CP ceruloplasmin (ferroxidase)
CPLX2 complexin 2
CPT1A carnitine palmitoyltransferase 1A (liver)
CPT2 carnitine palmitoyltransferase 2
CREB1 cAMP responsive element binding protein 1
CREM cAMP responsive element modulator
CRH corticotropin releasing hormone
CRP C-reactive protein, pentraxin-related
CRTC1 CREB regulated transcription coactivator 1
CS citrate synthase
CSF1R colony stimulating factor 1 receptor
CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
CSF3 colony stimulating factor 3 (granulocyte)
CSNK2B casein kinase 2, beta polypeptide
CST3 cystatin C
CTC1 CTS telomere maintenance complex component 1
CTF1 cardiotrophin 1
CTGF connective tissue growth factor
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNND1 catenin (cadherin-associated protein), delta 1
CTSB cathepsin B
CTSD cathepsin D
CUBN cubilin (intrinsic factor-cobalamin receptor)
CX3CL1 chemokine (C-X3-C motif) ligand 1
CX3CR1 chemokine (C-X3-C motif) receptor 1
CXADR coxsackie virus and adenovirus receptor
CXCL10 chemokine (C-X-C motif) ligand 10
CXCL11 chemokine (C-X-C motif) ligand 11
CXCL8 chemokine (C-X-C motif) ligand 8
CXCL9 chemokine (C-X-C motif) ligand 9
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4
CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase)
DBI diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)
DBNL drebrin-like
DCN decorin
DCTN1 dynactin 1
DDAH1 dimethylarginine dimethylaminohydrolase 1
DDAH2 dimethylarginine dimethylaminohydrolase 2
DDX58 DEAD (Asp-Glu-Ala-Asp) box polypeptide 58
DFFB DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)
DFNB59 deafness, autosomal recessive 59
DIABLO diablo, IAP-binding mitochondrial protein
DKK1 dickkopf WNT signaling pathway inhibitor 1
DLX3 distal-less homeobox 3
DMD dystrophin
DNM1L dynamin 1-like
DPP4 dipeptidyl-peptidase 4
DRD1 dopamine receptor D1
DRD2 dopamine receptor D2
DRD5 dopamine receptor D5
DUOX2 dual oxidase 2
DUSP1 dual specificity phosphatase 1
E2F1 E2F transcription factor 1
ECEL1 endothelin converting enzyme-like 1
EDIL3 EGF-like repeats and discoidin I-like domains 3
EDN1 endothelin 1
EDNRA endothelin receptor type A
EDNRB endothelin receptor type B
EGFR epidermal growth factor receptor
EGR2 early growth response 2
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ELANE elastase, neutrophil expressed
ELN elastin
ENG endoglin
ENHO energy homeostasis associated
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2
EP300 E1A binding protein p300
EPO erythropoietin
ERBB2 erb-b2 receptor tyrosine kinase 2
ERVW-1 endogenous retrovirus group W, member 1
ESPN espin
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
ETFB electron-transfer-flavoprotein, beta polypeptide
EXOC6 exocyst complex component 6
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
EZR ezrin
F2 coagulation factor II (thrombin)
F2RL1 coagulation factor II (thrombin) receptor-like 1
F5 coagulation factor V (proaccelerin, labile factor)
FAAH fatty acid amide hydrolase
FABP1 fatty acid binding protein 1, liver
FABP3 fatty acid binding protein 3, muscle and heart
FABP4 fatty acid binding protein 4, adipocyte
FANCD2 Fanconi anemia, complementation group D2
FANCG Fanconi anemia, complementation group G
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FBP1 fructose-1,6-bisphosphatase 1
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
FCRL3 Fc receptor-like 3
FERMT3 fermitin family member 3
FFAR1 free fatty acid receptor 1
FGB fibrinogen beta chain
FGF21 fibroblast growth factor 21
FGF23 fibroblast growth factor 23
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGG fibrinogen gamma chain
FIS1 fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae)
FKBP5 FK506 binding protein 5
FLG filaggrin
FLT1 fms-related tyrosine kinase 1
FMO3 flavin containing monooxygenase 3
FMR1 fragile X mental retardation 1
FOXC1 forkhead box C1
FOXL2 forkhead box L2
FOXO1 forkhead box O1
FOXP3 forkhead box P3
FOXQ1 forkhead box Q1
FSHB follicle stimulating hormone, beta polypeptide
FST follistatin
FUS FUS RNA binding protein
FXN frataxin
FZR1 fizzy/cell division cycle 20 related 1 (Drosophila)
G6PC3 glucose 6 phosphatase, catalytic, 3
G6PD glucose-6-phosphate dehydrogenase
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1
GABRA4 gamma-aminobutyric acid (GABA) A receptor, alpha 4
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GADD45A growth arrest and DNA-damage-inducible, alpha
GALT galactose-1-phosphate uridylyltransferase
GAS6 growth arrest-specific 6
GATA3 GATA binding protein 3
GATA6 GATA binding protein 6
GBA glucosidase, beta, acid
GBP1 guanylate binding protein 1, interferon-inducible
GC group-specific component (vitamin D binding protein)
GCG glucagon
GCK glucokinase (hexokinase 4)
GDAP1 ganglioside induced differentiation associated protein 1
GDF15 growth differentiation factor 15
GDF2 growth differentiation factor 2
GDNF glial cell derived neurotrophic factor
GGCX gamma-glutamyl carboxylase
GH1 growth hormone 1
GHRL ghrelin/obestatin prepropeptide
GJB2 gap junction protein, beta 2, 26kDa
GLI2 GLI family zinc finger 2
GLO1 glyoxalase I
GLP1R glucagon-like peptide 1 receptor
GLRX glutaredoxin (thioltransferase)
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3
GNMT glycine N-methyltransferase
GOLPH3 golgi phosphoprotein 3 (coat-protein)
GPC3 glypican 3
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
GPX3 glutathione peroxidase 3
GREM1 gremlin 1, DAN family BMP antagonist
GRHL3 grainyhead-like 3 (Drosophila)
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRIN3B glutamate receptor, ionotropic, N-methyl-D-aspartate 3B
GRM2 glutamate receptor, metabotropic 2
GRM3 glutamate receptor, metabotropic 3
GRM6 glutamate receptor, metabotropic 6
GRN granulin
GSK3B glycogen synthase kinase 3 beta
GSN gelsolin
GSTA4 glutathione S-transferase alpha 4
GSTP1 glutathione S-transferase pi 1
GSTZ1 glutathione S-transferase zeta 1
GUCA1A guanylate cyclase activator 1A (retina)
GUCY1B3 guanylate cyclase 1, soluble, beta 3
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HAMP hepcidin antimicrobial peptide
HAVCR1 hepatitis A virus cellular receptor 1
HAVCR2 hepatitis A virus cellular receptor 2
HBEGF heparin-binding EGF-like growth factor
HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4
HDL3 Huntington-like neurodegenerative disorder 2
HFE hemochromatosis
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HHEX hematopoietically expressed homeobox
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HIGD1A HIG1 hypoxia inducible domain family, member 1A
HIP1R huntingtin interacting protein 1 related
HIPK2 homeodomain interacting protein kinase 2
HK2 hexokinase 2
HLA-B major histocompatibility complex, class I, B
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HMGA2 high mobility group AT-hook 2
HMGB1 high mobility group box 1
HMOX1 heme oxygenase 1
HMX2 H6 family homeobox 2
HMX3 H6 family homeobox 3
HNF1A HNF1 homeobox A
HNF1B HNF1 homeobox B
HNF4A hepatocyte nuclear factor 4, alpha
HNRNPD heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)
HOXA9 homeobox A9
HP haptoglobin
HPRT1 hypoxanthine phosphoribosyltransferase 1
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
HSP90B1 heat shock protein 90kDa beta (Grp94), member 1
HSPA12B heat shock 70kD protein 12B
HSPA1A heat shock 70kDa protein 1A
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled
HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
HTRA2 HtrA serine peptidase 2
HTT huntingtin
IAPP islet amyloid polypeptide
ICAM1 intercellular adhesion molecule 1
ICOS inducible T-cell co-stimulator
IDE insulin-degrading enzyme
IFNA1 interferon, alpha 1
IFNB1 interferon, beta 1, fibroblast
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGF2BP2 insulin-like growth factor 2 mRNA binding protein 2
IGFBP1 insulin-like growth factor binding protein 1
IGFBP3 insulin-like growth factor binding protein 3
IK IK cytokine, down-regulator of HLA II
IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
IL10 interleukin 10
IL13 interleukin 13
IL17A interleukin 17A
IL17RA interleukin 17 receptor A
IL18 interleukin 18
IL18BP interleukin 18 binding protein
IL1B interleukin 1, beta
IL1R1 interleukin 1 receptor, type I
IL1RL1 interleukin 1 receptor-like 1
IL1RN interleukin 1 receptor antagonist
IL23A interleukin 23, alpha subunit p19
IL4 interleukin 4
IL6 interleukin 6
IL6R interleukin 6 receptor
ILK integrin-linked kinase
IMMT inner membrane protein, mitochondrial
INHBA inhibin, beta A
INS insulin
INSL3 insulin-like 3 (Leydig cell)
IRF1 interferon regulatory factor 1
IRS1 insulin receptor substrate 1
ITGAV integrin, alpha V
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
ITGB4 integrin, beta 4
ITGB6 integrin, beta 6
ITLN1 intelectin 1 (galactofuranose binding)
ITM2B integral membrane protein 2B
JAK2 Janus kinase 2
JUN jun proto-oncogene
JUNB jun B proto-oncogene
KARS lysyl-tRNA synthetase
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNA3 potassium channel, voltage gated shaker related subfamily A, member 3
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
KCNH3 potassium channel, voltage gated eag related subfamily H, member 3
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
KCNN3 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3
KCNN4 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KDR kinase insert domain receptor
KERA keratocan
KIF1C kinesin family member 1C
KIFAP3 kinesin-associated protein 3
KL klotho
KLF2 Kruppel-like factor 2
KLK1 kallikrein 1
KLK7 kallikrein-related peptidase 7
KLRG1 killer cell lectin-like receptor subfamily G, member 1
KLRK1 killer cell lectin-like receptor subfamily K, member 1
LAMA2 laminin, alpha 2
LAMB2 laminin, beta 2 (laminin S)
LBP lipopolysaccharide binding protein
LCK LCK proto-oncogene, Src family tyrosine kinase
LCMT1 leucine carboxyl methyltransferase 1
LCN2 lipocalin 2
LDLR low density lipoprotein receptor
LEP leptin
LEPR leptin receptor
LETMD1 LETM1 domain containing 1
LGALS3 lectin, galactoside-binding, soluble, 3
LGALS9 lectin, galactoside-binding, soluble, 9
LIAS lipoic acid synthetase
LIG4 ligase IV, DNA, ATP-dependent
LMNA lamin A/C
LMTK2 lemur tyrosine kinase 2
LOX lysyl oxidase
LPA lipoprotein, Lp(a)
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LRP2 low density lipoprotein receptor-related protein 2
LRRK2 leucine-rich repeat kinase 2
LSAMP limbic system-associated membrane protein
LUM lumican
LYRM1 LYR motif containing 1
LYZ lysozyme
LZTFL1 leucine zipper transcription factor-like 1
MAFA v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A
MAOA monoamine oxidase A
MAOB monoamine oxidase B
MAP2 microtubule-associated protein 2
MAP2K2 mitogen-activated protein kinase kinase 2
MAP3K14 mitogen-activated protein kinase kinase kinase 14
MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAPK3 mitogen-activated protein kinase 3
MAPK7 mitogen-activated protein kinase 7
MAPK8 mitogen-activated protein kinase 8
MAPRE1 microtubule-associated protein, RP/EB family, member 1
MAPT microtubule-associated protein tau
MARCH5 membrane-associated ring finger (C3HC4) 5
MBL2 mannose-binding lectin (protein C) 2, soluble
MC4R melanocortin 4 receptor
MCOLN1 mucolipin 1
MCPH1 microcephalin 1
MDK midkine (neurite growth-promoting factor 2)
MECP2 methyl CpG binding protein 2
MEGF10 multiple EGF-like-domains 10
MEOX2 mesenchyme homeobox 2
MERTK MER proto-oncogene, tyrosine kinase
MET MET proto-oncogene, receptor tyrosine kinase
MFF mitochondrial fission factor
MGLL monoglyceride lipase
MGP matrix Gla protein
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MIR1-1 microRNA 1-1
MIR125B1 microRNA 125b-1
MIR126 microRNA 126
MIR149 microRNA 149
MIR21 microRNA 21
MIR499A microRNA 499a
MIR96 microRNA 96
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1
MMP1 matrix metallopeptidase 1
MMP2 matrix metallopeptidase 2
MMP3 matrix metallopeptidase 3
MMP7 matrix metallopeptidase 7
MMP9 matrix metallopeptidase 9
MPO myeloperoxidase
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MSH2 mutS homolog 2
MSN moesin
MT-ATP6 ATP synthase F0 subunit 6
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-TI tRNA
MT-TL1 tRNA
MT1A metallothionein 1A
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTIF3 mitochondrial translational initiation factor 3
MTNR1B melatonin receptor 1B
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MTTP microsomal triglyceride transfer protein
MUC16 mucin 16, cell surface associated
MURC muscle-related coiled-coil protein
MUT methylmalonyl CoA mutase
MYBPC2 myosin binding protein C, fast type
MYBPC3 myosin binding protein C, cardiac
MYD88 myeloid differentiation primary response 88
MYH9 myosin, heavy chain 9, non-muscle
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYO18B myosin XVIIIB
MYO7A myosin VIIA
MYOC myocilin, trabecular meshwork inducible glucocorticoid response
MYOD1 myogenic differentiation 1
MYOT myotilin
NAMPT nicotinamide phosphoribosyltransferase
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NEUROD1 neuronal differentiation 1
NEWENTRY Record to support submission of GeneRIFs for a gene not in Gene (human; man).
NF1 neurofibromin 1
NFE2L2 nuclear factor, erythroid 2-like 2
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NGF nerve growth factor (beta polypeptide)
NGFR nerve growth factor receptor
NKX2-1 NK2 homeobox 1
NLRP3 NLR family, pyrin domain containing 3
NLRP6 NLR family, pyrin domain containing 6
NME1 NME/NM23 nucleoside diphosphate kinase 1
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NOD2 nucleotide-binding oligomerization domain containing 2
NOP56 NOP56 ribonucleoprotein
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH2 notch 2
NOTCH4 notch 4
NOX1 NADPH oxidase 1
NOX4 NADPH oxidase 4
NPC1L1 NPC1-like 1
NPHP1 nephronophthisis 1 (juvenile)
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NPPA natriuretic peptide A
NPPB natriuretic peptide B
NPPC natriuretic peptide C
NPR2 natriuretic peptide receptor 2
NPR3 natriuretic peptide receptor 3
NPY neuropeptide Y
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NR3C2 nuclear receptor subfamily 3, group C, member 2
NR5A1 nuclear receptor subfamily 5, group A, member 1
NRGN neurogranin (protein kinase C substrate, RC3)
NRP1 neuropilin 1
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
NUCB1 nucleobindin 1
NUDT1 nudix (nucleoside diphosphate linked moiety X)-type motif 1
NYX nyctalopin
OAT ornithine aminotransferase
OCLN occludin
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
OGG1 8-oxoguanine DNA glycosylase
OGT O-linked N-acetylglucosamine (GlcNAc) transferase
OLIG2 oligodendrocyte lineage transcription factor 2
OLR1 oxidized low density lipoprotein (lectin-like) receptor 1
OPA1 optic atrophy 1 (autosomal dominant)
ORM1 orosomucoid 1
OTX2 orthodenticle homeobox 2
OXT oxytocin/neurophysin I prepropeptide
P2RX4 purinergic receptor P2X, ligand gated ion channel, 4
P2RY12 purinergic receptor P2Y, G-protein coupled, 12
PAEP progestagen-associated endometrial protein
PAPPA pregnancy-associated plasma protein A, pappalysin 1
PARK2 parkin RBR E3 ubiquitin protein ligase
PARP1 poly (ADP-ribose) polymerase 1
PAX2 paired box 2
PAX3 paired box 3
PAX4 paired box 4
PCDH15 protocadherin-related 15
PCDH19 protocadherin 19
PCLO piccolo presynaptic cytomatrix protein
PDCD1 programmed cell death 1
PDCD1LG2 programmed cell death 1 ligand 2
PDE4D phosphodiesterase 4D, cAMP-specific
PDE5A phosphodiesterase 5A, cGMP-specific
PDHX pyruvate dehydrogenase complex, component X
PDIA2 protein disulfide isomerase family A, member 2
PDX1 pancreatic and duodenal homeobox 1
PECAM1 platelet/endothelial cell adhesion molecule 1
PER3 period circadian clock 3
PF4 platelet factor 4
PGF placental growth factor
PGR progesterone receptor
PHB prohibitin
PHEX phosphate regulating endopeptidase homolog, X-linked
PHOX2B paired-like homeobox 2b
PI3 peptidase inhibitor 3, skin-derived
PID1 phosphotyrosine interaction domain containing 1
PINK1 PTEN induced putative kinase 1
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLA2G2A phospholipase A2, group IIA (platelets, synovial fluid)
PLA2G7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
PLK1 polo-like kinase 1
PLTP phospholipid transfer protein
PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1
PMM2 phosphomannomutase 2
PNPLA2 patatin-like phospholipase domain containing 2
POLG polymerase (DNA directed), gamma
POMC proopiomelanocortin
PON1 paraoxonase 1
PON2 paraoxonase 2
POT1 protection of telomeres 1
POU4F3 POU class 4 homeobox 3
PPARA peroxisome proliferator-activated receptor alpha
PPARG peroxisome proliferator-activated receptor gamma
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPP1CA protein phosphatase 1, catalytic subunit, alpha isozyme
PPP2R1A protein phosphatase 2, regulatory subunit A, alpha
PPP2R2B protein phosphatase 2, regulatory subunit B, beta
PPP3CB protein phosphatase 3, catalytic subunit, beta isozyme
PPP4C protein phosphatase 4, catalytic subunit
PPRC1 peroxisome proliferator-activated receptor gamma, coactivator-related 1
PQBP1 polyglutamine binding protein 1
PRDM1 PR domain containing 1, with ZNF domain
PRDX1 peroxiredoxin 1
PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
PRKCB protein kinase C, beta
PRNP prion protein
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROCR protein C receptor, endothelial
PROM1 prominin 1
PRPF8 pre-mRNA processing factor 8
PRPH2 peripherin 2 (retinal degeneration, slow)
PSEN1 presenilin 1
PSEN2 presenilin 2
PSMB4 proteasome (prosome, macropain) subunit, beta type, 4
PSMC1 proteasome (prosome, macropain) 26S subunit, ATPase, 1
PSMC5 proteasome (prosome, macropain) 26S subunit, ATPase, 5
PSMD10 proteasome (prosome, macropain) 26S subunit, non-ATPase, 10
PSMD8 proteasome (prosome, macropain) 26S subunit, non-ATPase, 8
PTAFR platelet-activating factor receptor
PTGER4 prostaglandin E receptor 4 (subtype EP4)
PTGES2 prostaglandin E synthase 2
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTH parathyroid hormone
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPRQ protein tyrosine phosphatase, receptor type, Q
PTX3 pentraxin 3, long
PVALB parvalbumin
RAB11A RAB11A, member RAS oncogene family
RAB9A RAB9A, member RAS oncogene family
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAP1B RAP1B, member of RAS oncogene family
RAPGEF3 Rap guanine nucleotide exchange factor (GEF) 3
RASAL1 RAS protein activator like 1 (GAP1 like)
RB1 retinoblastoma 1
RB1CC1 RB1-inducible coiled-coil 1
RBP1 retinol binding protein 1, cellular
RBP3 retinol binding protein 3, interstitial
RBP4 retinol binding protein 4, plasma
RCAN1 regulator of calcineurin 1
RDX radixin
RECQL4 RecQ protein-like 4
REG1A regenerating islet-derived 1 alpha
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RELN reelin
RET ret proto-oncogene
RETN resistin
RHOA ras homolog family member A
RNASE3 ribonuclease, RNase A family, 3
RNR1 RNA, ribosomal cluster 1
ROCK1 Rho-associated, coiled-coil containing protein kinase 1
ROCK2 Rho-associated, coiled-coil containing protein kinase 2
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP2 retinitis pigmentosa 2 (X-linked recessive)
RPE65 retinal pigment epithelium-specific protein 65kDa
RS1 retinoschisin 1
RUNX1 runt-related transcription factor 1
RYR2 ryanodine receptor 2 (cardiac)
S100A1 S100 calcium binding protein A1
S100A4 S100 calcium binding protein A4
S100A6 S100 calcium binding protein A6
S100A8 S100 calcium binding protein A8
S100A9 S100 calcium binding protein A9
S100B S100 calcium binding protein B
S1PR2 sphingosine-1-phosphate receptor 2
SACS sacsin molecular chaperone
SCAF11 SR-related CTD-associated factor 11
SCGB1A1 secretoglobin, family 1A, member 1 (uteroglobin)
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SCYL1 SCY1-like 1 (S. cerevisiae)
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SELE selectin E
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SENP1 SUMO1/sentrin specific peptidase 1
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member 1
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SFN stratifin
SFTPD surfactant protein D
SGCE sarcoglycan, epsilon
SGMS1 sphingomyelin synthase 1
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SHH sonic hedgehog
SIRT1 sirtuin 1
SIRT3 sirtuin 3
SIRT6 sirtuin 6
SIVA1 SIVA1, apoptosis-inducing factor
SKI SKI proto-oncogene
SKIL SKI-like proto-oncogene
SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter), member 2
SLC16A7 solute carrier family 16 (monocarboxylate transporter), member 7
SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 8
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC22A12 solute carrier family 22 (organic anion/urate transporter), member 12
SLC25A14 solute carrier family 25 (mitochondrial carrier, brain), member 14
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC30A8 solute carrier family 30 (zinc transporter), member 8
SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
SLPI secretory leukocyte peptidase inhibitor
SMAD2 SMAD family member 2
SMAD4 SMAD family member 4
SMR3A submaxillary gland androgen regulated protein 3A
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SNX1 sorting nexin 1
SOCS1 suppressor of cytokine signaling 1
SOCS3 suppressor of cytokine signaling 3
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
SOD3 superoxide dismutase 3, extracellular
SORCS1 sortilin-related VPS10 domain containing receptor 1
SORT1 sortilin 1
SOS1 son of sevenless homolog 1 (Drosophila)
SOX10 SRY (sex determining region Y)-box 10
SOX3 SRY (sex determining region Y)-box 3
SPINK5 serine peptidase inhibitor, Kazal type 5
SPP1 secreted phosphoprotein 1
SPTBN2 spectrin, beta, non-erythrocytic 2
SPTLC1 serine palmitoyltransferase, long chain base subunit 1
SRA1 steroid receptor RNA activator 1
SREBF1 sterol regulatory element binding transcription factor 1
SRF serum response factor (c-fos serum response element-binding transcription factor)
SST somatostatin
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT5A signal transducer and activator of transcription 5A
STAT5B signal transducer and activator of transcription 5B
STEAP4 STEAP family member 4
STK10 serine/threonine kinase 10
STX5 syntaxin 5
STXBP1 syntaxin binding protein 1
STXBP2 syntaxin binding protein 2
SUMO1 small ubiquitin-like modifier 1
SYP synaptophysin
TAC1 tachykinin, precursor 1
TAC3 tachykinin 3
TACR3 tachykinin receptor 3
TACSTD2 tumor-associated calcium signal transducer 2
TARDBP TAR DNA binding protein
TAZ tafazzin
TBC1D24 TBC1 domain family, member 24
TBX21 T-box 21
TBXA2R thromboxane A2 receptor
TCAP titin-cap
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box)
TCTE3 t-complex-associated-testis-expressed 3
TDGF1 teratocarcinoma-derived growth factor 1
TERT telomerase reverse transcriptase
TF transferrin
TFAM transcription factor A, mitochondrial
TFF2 trefoil factor 2
TFRC transferrin receptor
TGFA transforming growth factor, alpha
TGFB1 transforming growth factor, beta 1
TGFB3 transforming growth factor, beta 3
TGM2 transglutaminase 2
TH tyrosine hydroxylase
THAP1 THAP domain containing, apoptosis associated protein 1
THBD thrombomodulin
THBS2 thrombospondin 2
THPO thrombopoietin
TICAM1 toll-like receptor adaptor molecule 1
TIMP1 TIMP metallopeptidase inhibitor 1
TLR1 toll-like receptor 1
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TLR9 toll-like receptor 9
TMEM126A transmembrane protein 126A
TNF tumor necrosis factor
TNFRSF10B tumor necrosis factor receptor superfamily, member 10b
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
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
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12
TNFSF13 tumor necrosis factor (ligand) superfamily, member 13
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b
TNNI1 troponin I type 1 (skeletal, slow)
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TNPO1 transportin 1
TOR1A torsin family 1, member A (torsin A)
TOR2A torsin family 2, member A
TP53 tumor protein p53
TP53BP2 tumor protein p53 binding protein 2
TP73 tumor protein p73
TPH2 tryptophan hydroxylase 2
TPI1 triosephosphate isomerase 1
TPM1 tropomyosin 1 (alpha)
TPO thyroid peroxidase
TRAF3IP2 TRAF3 interacting protein 2
TRAP1 TNF receptor-associated protein 1
TREM1 triggering receptor expressed on myeloid cells 1
TREX1 three prime repair exonuclease 1
TRIM22 tripartite motif containing 22
TRL-AAG2-1 transfer RNA-Leu (AAG) 2-1
TRPC3 transient receptor potential cation channel, subfamily C, member 3
TRPC6 transient receptor potential cation channel, subfamily C, member 6
TRPM1 transient receptor potential cation channel, subfamily M, member 1
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSFM Ts translation elongation factor, mitochondrial
TSHB thyroid stimulating hormone, beta
TSHR thyroid stimulating hormone receptor
TTBK1 tau tubulin kinase 1
TTR transthyretin
TUBB3 tubulin, beta 3 class III
TULP1 tubby like protein 1
TXNIP thioredoxin interacting protein
TXNRD1 thioredoxin reductase 1
TYK2 tyrosine kinase 2
UBAP1 ubiquitin associated protein 1
UBD ubiquitin D
UCN urocortin
UCP2 uncoupling protein 2 (mitochondrial, proton carrier)
UGCG UDP-glucose ceramide glucosyltransferase
ULBP2 UL16 binding protein 2
UMOD uromodulin
VCAM1 vascular cell adhesion molecule 1
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
VIM vimentin
VMA21 VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)
VPS33B vacuolar protein sorting 33 homolog B (yeast)
VWF von Willebrand factor
WAS Wiskott-Aldrich syndrome
WNT1 wingless-type MMTV integration site family, member 1
WNT3A wingless-type MMTV integration site family, member 3A
WRN Werner syndrome, RecQ helicase-like
WT1 Wilms tumor 1
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
YARS tyrosyl-tRNA synthetase
YBX1 Y box binding protein 1
YWHAQ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta
ZNF804A zinc finger protein 804A
ZYX zyxin