abnormal Gene Set

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

926 genes co-occuring with the biological term abnormal 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
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ACAD10 acyl-CoA dehydrogenase family, member 10
ACADVL acyl-CoA dehydrogenase, very long chain
ACE angiotensin I converting enzyme
ACVR1C activin A receptor, type IC
ACVRL1 activin A receptor type II-like 1
ADA adenosine deaminase
ADARB1 adenosine deaminase, RNA-specific, B1
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary)
ADCYAP1R1 adenylate cyclase activating polypeptide 1 (pituitary) receptor type I
ADGRG1 adhesion G protein-coupled receptor G1
ADIPOQ adiponectin, C1Q and collagen domain containing
ADRB1 adrenoceptor beta 1
AFP alpha-fetoprotein
AGK acylglycerol kinase
AGO2 argonaute RISC catalytic component 2
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGRP agouti related neuropeptide
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR2 angiotensin II receptor, type 2
AHR aryl hydrocarbon receptor
AHSG alpha-2-HS-glycoprotein
AHSP alpha hemoglobin stabilizing protein
AICDA activation-induced cytidine deaminase
AIRE autoimmune regulator
AK1 adenylate kinase 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALAS1 5'-aminolevulinate synthase 1
ALK anaplastic lymphoma receptor tyrosine kinase
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOXE3 arachidonate lipoxygenase 3
AMHR2 anti-Mullerian hormone receptor, type II
ANGPTL2 angiopoietin-like 2
ANK2 ankyrin 2, neuronal
ANKHD1 ankyrin repeat and KH domain containing 1
ANO1 anoctamin 1, calcium activated chloride channel
ANOS1 anosmin 1
ANXA2 annexin A2
APBB1 amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)
APC adenomatous polyposis coli
APLN apelin
APOA1 apolipoprotein A-I
APOB apolipoprotein B
APOE apolipoprotein E
APP amyloid beta (A4) precursor protein
AQP1 aquaporin 1 (Colton blood group)
AQP2 aquaporin 2 (collecting duct)
AQP4 aquaporin 4
AR androgen receptor
ARF6 ADP-ribosylation factor 6
ARHGAP26 Rho GTPase activating protein 26
ARL2 ADP-ribosylation factor-like 2
ARX aristaless related homeobox
ASIC1 acid sensing (proton gated) ion channel 1
ATG16L1 autophagy related 16-like 1 (S. cerevisiae)
ATM ATM serine/threonine kinase
ATN1 atrophin 1
ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2A3 ATPase, Ca++ transporting, ubiquitous
ATP2B4 ATPase, Ca++ transporting, plasma membrane 4
ATP2C1 ATPase, Ca++ transporting, type 2C, member 1
ATP5B ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide
ATR ATR serine/threonine kinase
ATRX alpha thalassemia/mental retardation syndrome X-linked
ATXN10 ataxin 10
ATXN2 ataxin 2
ATXN3 ataxin 3
ATXN7 ataxin 7
ATXN8OS ATXN8 opposite strand (non-protein coding)
AURKA aurora kinase A
AURKB aurora kinase B
AURKC aurora kinase C
AVP arginine vasopressin
AXIN1 axin 1
BACH1 BTB and CNC homology 1, basic leucine zipper transcription factor 1
BAG3 BCL2-associated athanogene 3
BAIAP2 BAI1-associated protein 2
BAK1 BCL2-antagonist/killer 1
BAX BCL2-associated X protein
BCAM basal cell adhesion molecule (Lutheran blood group)
BCL2 B-cell CLL/lymphoma 2
BCL2L1 BCL2-like 1
BCL2L10 BCL2-like 10 (apoptosis facilitator)
BCL2L2 BCL2-like 2
BCOR BCL6 corepressor
BDKRB1 bradykinin receptor B1
BDNF brain-derived neurotrophic factor
BECN1 beclin 1, autophagy related
BEST1 bestrophin 1
BGLAP bone gamma-carboxyglutamate (gla) protein
BIRC5 baculoviral IAP repeat containing 5
BLM Bloom syndrome, RecQ helicase-like
BMP2 bone morphogenetic protein 2
BMP5 bone morphogenetic protein 5
BMP7 bone morphogenetic protein 7
BMPR1B bone morphogenetic protein receptor, type IB
BPIFA1 BPI fold containing family A, member 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BTG2 BTG family, member 2
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
C3 complement component 3
C5AR1 complement component 5a receptor 1
C9ORF72 chromosome 9 open reading frame 72
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit
CALML5 calmodulin-like 5
CALR calreticulin
CAMK4 calcium/calmodulin-dependent protein kinase IV
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP8 caspase 8, apoptosis-related cysteine peptidase
CASQ2 calsequestrin 2 (cardiac muscle)
CAST calpastatin
CAT catalase
CATSPER1 cation channel, sperm associated 1
CAV1 caveolin 1, caveolae protein, 22kDa
CBFB core-binding factor, beta subunit
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CBLB Cbl proto-oncogene B, E3 ubiquitin protein ligase
CBX3 chromobox homolog 3
CC2D1A coiled-coil and C2 domain containing 1A
CCHCR1 coiled-coil alpha-helical rod protein 1
CCM2 cerebral cavernous malformation 2
CCND1 cyclin D1
CCNE1 cyclin E1
CD200 CD200 molecule
CD200R1 CD200 receptor 1
CD24 CD24 molecule
CD27 CD27 molecule
CD34 CD34 molecule
CD36 CD36 molecule (thrombospondin receptor)
CD38 CD38 molecule
CD40LG CD40 ligand
CD44 CD44 molecule (Indian blood group)
CD46 CD46 molecule, complement regulatory protein
CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group)
CD5L CD5 molecule-like
CD82 CD82 molecule
CD86 CD86 molecule
CDC25B cell division cycle 25B
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDH11 cadherin 11, type 2, OB-cadherin (osteoblast)
CDH13 cadherin 13
CDH2 cadherin 2, type 1, N-cadherin (neuronal)
CDK1 cyclin-dependent kinase 1
CDK2 cyclin-dependent kinase 2
CDK5 cyclin-dependent kinase 5
CDK5RAP3 CDK5 regulatory subunit associated protein 3
CDK6 cyclin-dependent kinase 6
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
CEACAM5 carcinoembryonic antigen-related cell adhesion molecule 5
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CETP cholesteryl ester transfer protein, plasma
CFH complement factor H
CFI complement factor I
CFLAR CASP8 and FADD-like apoptosis regulator
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CGA glycoprotein hormones, alpha polypeptide
CGB chorionic gonadotropin, beta polypeptide
CHEK1 checkpoint kinase 1
CHGA chromogranin A
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39)
CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
CIAPIN1 cytokine induced apoptosis inhibitor 1
CISH cytokine inducible SH2-containing protein
CLIC3 chloride intracellular channel 3
CLOCK clock circadian regulator
CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4
CNR1 cannabinoid receptor 1 (brain)
COL1A1 collagen, type I, alpha 1
COL4A5 collagen, type IV, alpha 5
COL5A1 collagen, type V, alpha 1
COL6A1 collagen, type VI, alpha 1
COL8A2 collagen, type VIII, alpha 2
COMT catechol-O-methyltransferase
COPS5 COP9 signalosome subunit 5
CPOX coproporphyrinogen oxidase
CPT1B carnitine palmitoyltransferase 1B (muscle)
CRABP2 cellular retinoic acid binding protein 2
CREB1 cAMP responsive element binding protein 1
CREM cAMP responsive element modulator
CRHR1 corticotropin releasing hormone receptor 1
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CRP C-reactive protein, pentraxin-related
CRYAA crystallin, alpha A
CRYAB crystallin, alpha B
CSPG4 chondroitin sulfate proteoglycan 4
CSPP1 centrosome and spindle pole associated protein 1
CSTB cystatin B (stefin B)
CTAGE1 cutaneous T-cell lymphoma-associated antigen 1
CTGF connective tissue growth factor
CTH cystathionine gamma-lyase
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNA1 catenin (cadherin-associated protein), alpha 1, 102kDa
CTNNAL1 catenin (cadherin-associated protein), alpha-like 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNNBIP1 catenin, beta interacting protein 1
CTNNBL1 catenin, beta like 1
CTNND1 catenin (cadherin-associated protein), delta 1
CTSH cathepsin H
CTSL cathepsin L
CUL3 cullin 3
CXCL12 chemokine (C-X-C motif) ligand 12
CXCL8 chemokine (C-X-C motif) ligand 8
CXCR2 chemokine (C-X-C motif) receptor 2
CXCR4 chemokine (C-X-C motif) receptor 4
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2
DACT1 dishevelled-binding antagonist of beta-catenin 1
DAXX death-domain associated protein
DAZL deleted in azoospermia-like
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase)
DCDC2 doublecortin domain containing 2
DCN decorin
DCX doublecortin
DDAH1 dimethylarginine dimethylaminohydrolase 1
DDR2 discoidin domain receptor tyrosine kinase 2
DES desmin
DHX32 DEAH (Asp-Glu-Ala-His) box polypeptide 32
DICER1 dicer 1, ribonuclease type III
DISC1 disrupted in schizophrenia 1
DIXDC1 DIX domain containing 1
DLC1 DLC1 Rho GTPase activating protein
DLG4 discs, large homolog 4 (Drosophila)
DLK1 delta-like 1 homolog (Drosophila)
DLL3 delta-like 3 (Drosophila)
DLX3 distal-less homeobox 3
DMPK dystrophia myotonica-protein kinase
DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6
DNM1L dynamin 1-like
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DPP4 dipeptidyl-peptidase 4
DRD2 dopamine receptor D2
DRD3 dopamine receptor D3
DROSHA drosha, ribonuclease type III
DSC2 desmocollin 2
DSC3 desmocollin 3
DSG3 desmoglein 3
DUSP1 dual specificity phosphatase 1
DYSF dysferlin
EBP emopamil binding protein (sterol isomerase)
ECEL1 endothelin converting enzyme-like 1
EDA ectodysplasin A
EDN1 endothelin 1
EDN3 endothelin 3
EEF1A2 eukaryotic translation elongation factor 1 alpha 2
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
EFNA2 ephrin-A2
EFNB2 ephrin-B2
EGFR epidermal growth factor receptor
EGLN1 egl-9 family hypoxia-inducible factor 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ELANE elastase, neutrophil expressed
ELN elastin
ENG endoglin
EPHB4 EPH receptor B4
EPPIN epididymal peptidase inhibitor
ERBB2 erb-b2 receptor tyrosine kinase 2
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
ERN1 endoplasmic reticulum to nucleus signaling 1
ERVFRD-1 endogenous retrovirus group FRD, member 1
ESM1 endothelial cell-specific molecule 1
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
ETS1 v-ets avian erythroblastosis virus E26 oncogene homolog 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
F12 coagulation factor XII (Hageman factor)
F13A1 coagulation factor XIII, A1 polypeptide
F2RL1 coagulation factor II (thrombin) receptor-like 1
F3 coagulation factor III (thromboplastin, tissue factor)
F5 coagulation factor V (proaccelerin, labile factor)
F8 coagulation factor VIII, procoagulant component
FANCD2 Fanconi anemia, complementation group D2
FANCL Fanconi anemia, complementation group L
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FAT1 FAT atypical cadherin 1
FBN1 fibrillin 1
FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32)
FERMT1 fermitin family member 1
FERMT3 fermitin family member 3
FGB fibrinogen beta chain
FGF10 fibroblast growth factor 10
FGF2 fibroblast growth factor 2 (basic)
FGF21 fibroblast growth factor 21
FGF23 fibroblast growth factor 23
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FHIT fragile histidine triad
FHL2 four and a half LIM domains 2
FKBP10 FK506 binding protein 10, 65 kDa
FKBP1A FK506 binding protein 1A, 12kDa
FLCN folliculin
FLG filaggrin
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FLNA filamin A, alpha
FLT1 fms-related tyrosine kinase 1
FLT3 fms-related tyrosine kinase 3
FLT4 fms-related tyrosine kinase 4
FMO3 flavin containing monooxygenase 3
FMR1 fragile X mental retardation 1
FN1 fibronectin 1
FOXN1 forkhead box N1
FOXO3 forkhead box O3
FOXP2 forkhead box P2
FOXP3 forkhead box P3
FRMD7 FERM domain containing 7
FSCN1 fascin actin-bundling protein 1
FSHR follicle stimulating hormone receptor
FTO fat mass and obesity associated
FUS FUS RNA binding protein
FXYD5 FXYD domain containing ion transport regulator 5
FXYD6 FXYD domain containing ion transport regulator 6
G6PD glucose-6-phosphate dehydrogenase
GAA glucosidase, alpha; acid
GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GAST gastrin
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA3 GATA binding protein 3
GATA4 GATA binding protein 4
GBA glucosidase, beta, acid
GBA2 glucosidase, beta (bile acid) 2
GCG glucagon
GCGR glucagon receptor
GCH1 GTP cyclohydrolase 1
GCM1 glial cells missing homolog 1 (Drosophila)
GCM2 glial cells missing homolog 2 (Drosophila)
GDAP1 ganglioside induced differentiation associated protein 1
GFER growth factor, augmenter of liver regeneration
GFI1 growth factor independent 1 transcription repressor
GGT1 gamma-glutamyltransferase 1
GH1 growth hormone 1
GH2 growth hormone 2
GHR growth hormone receptor
GHRL ghrelin/obestatin prepropeptide
GIP gastric inhibitory polypeptide
GJA1 gap junction protein, alpha 1, 43kDa
GJB2 gap junction protein, beta 2, 26kDa
GJC1 gap junction protein, gamma 1, 45kDa
GLO1 glyoxalase I
GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2
GNAS GNAS complex locus
GOT1 glutamic-oxaloacetic transaminase 1, soluble
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GPHN gephyrin
GPNMB glycoprotein (transmembrane) nmb
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GSK3A glycogen synthase kinase 3 alpha
GSK3B glycogen synthase kinase 3 beta
GSTM1 glutathione S-transferase mu 1
GSTT1 glutathione S-transferase theta 1
GTF2A1L general transcription factor IIA, 1-like
GUCD1 guanylyl cyclase domain containing 1
GYS1 glycogen synthase 1 (muscle)
GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HBE1 hemoglobin, epsilon 1
HEY1 hes-related family bHLH transcription factor with YRPW motif 1
HFE hemochromatosis
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HHIP hedgehog interacting protein
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
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-G major histocompatibility complex, class I, G
HMOX1 heme oxygenase 1
HMOX2 heme oxygenase 2
HNF1A HNF1 homeobox A
HNRNPDL heterogeneous nuclear ribonucleoprotein D-like
HOXA10 homeobox A10
HOXA11 homeobox A11
HOXA7 homeobox A7
HOXA9 homeobox A9
HOXA@ homeobox A cluster
HPSE heparanase
HRAS Harvey rat sarcoma viral oncogene homolog
HRH4 histamine receptor H4
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
HSD17B1 hydroxysteroid (17-beta) dehydrogenase 1
HSPA8 heat shock 70kDa protein 8
HSPB1 heat shock 27kDa protein 1
HSPB2 heat shock 27kDa protein 2
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
HTRA2 HtrA serine peptidase 2
HTRA3 HtrA serine peptidase 3
HTRA4 HtrA serine peptidase 4
HTT huntingtin
ICAM4 intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)
ICOS inducible T-cell co-stimulator
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IFNA1 interferon, alpha 1
IFNG interferon, gamma
IFT81 intraflagellar transport 81
IGAN1 IgA nephropathy
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGFBP1 insulin-like growth factor binding protein 1
IGFBP3 insulin-like growth factor binding protein 3
IHH indian hedgehog
IL10 interleukin 10
IL10RA interleukin 10 receptor, alpha
IL17A interleukin 17A
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1R1 interleukin 1 receptor, type I
IL1R2 interleukin 1 receptor, type II
IL1RN interleukin 1 receptor antagonist
IL20 interleukin 20
IL23A interleukin 23, alpha subunit p19
IL24 interleukin 24
IL6 interleukin 6
IL6R interleukin 6 receptor
INA internexin neuronal intermediate filament protein, alpha
INHA inhibin, alpha
INHBA inhibin, beta A
INO80 INO80 complex subunit
INPPL1 inositol polyphosphate phosphatase-like 1
INSIG2 insulin induced gene 2
INVS inversin
IPO13 importin 13
IPO5 importin 5
IRF2 interferon regulatory factor 2
ITGA5 integrin, alpha 5 (fibronectin receptor, alpha polypeptide)
ITGAX integrin, alpha X (complement component 3 receptor 4 subunit)
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
ITGB8 integrin, beta 8
ITLN1 intelectin 1 (galactofuranose binding)
JAK2 Janus kinase 2
JAK3 Janus kinase 3
JUP junction plakoglobin
KCNA3 potassium channel, voltage gated shaker related subfamily A, member 3
KCNA5 potassium channel, voltage gated shaker related subfamily A, member 5
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
KCNH3 potassium channel, voltage gated eag related subfamily H, member 3
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KDR kinase insert domain receptor
KIR2DL2 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2
KIR2DL3 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3
KIR2DS1 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1
KIR3DL1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KL klotho
KLF10 Kruppel-like factor 10
KLRC1 killer cell lectin-like receptor subfamily C, member 1
KLRD1 killer cell lectin-like receptor subfamily D, member 1
KLRK1 killer cell lectin-like receptor subfamily K, member 1
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT20 keratin 20, type I
LAMA1 laminin, alpha 1
LAMA2 laminin, alpha 2
LAMA5 laminin, alpha 5
LAMB1 laminin, beta 1
LARGE like-glycosyltransferase
LBR lamin B receptor
LCAT lecithin-cholesterol acyltransferase
LDB3 LIM domain binding 3
LEP leptin
LEPR leptin receptor
LGALS3 lectin, galactoside-binding, soluble, 3
LGALS7 lectin, galactoside-binding, soluble, 7
LHCGR luteinizing hormone/choriogonadotropin receptor
LIF leukemia inhibitory factor
LILRB1 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1
LIN7B lin-7 homolog B (C. elegans)
LMNA lamin A/C
LMO2 LIM domain only 2 (rhombotin-like 1)
LOXL1 lysyl oxidase-like 1
LOXL2 lysyl oxidase-like 2
LOXL4 lysyl oxidase-like 4
LPL lipoprotein lipase
LRP1 low density lipoprotein receptor-related protein 1
LRP5 low density lipoprotein receptor-related protein 5
LRRK2 leucine-rich repeat kinase 2
LTK leukocyte receptor tyrosine kinase
LUC7L3 LUC7-like 3 (S. cerevisiae)
LYL1 lymphoblastic leukemia associated hematopoiesis regulator 1
MAD2L1 MAD2 mitotic arrest deficient-like 1 (yeast)
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAOA monoamine oxidase A
MAP2K1 mitogen-activated protein kinase kinase 1
MAP3K5 mitogen-activated protein kinase kinase kinase 5
MAPK1 mitogen-activated protein kinase 1
MAPK12 mitogen-activated protein kinase 12
MAPK14 mitogen-activated protein kinase 14
MAPK3 mitogen-activated protein kinase 3
MAPK8 mitogen-activated protein kinase 8
MAPT microtubule-associated protein tau
MBD2 methyl-CpG binding domain protein 2
MBNL1 muscleblind-like splicing regulator 1
MCM3AP minichromosome maintenance complex component 3 associated protein
MCOLN1 mucolipin 1
MECP2 methyl CpG binding protein 2
MEPE matrix extracellular phosphoglycoprotein
MERTK MER proto-oncogene, tyrosine kinase
MET MET proto-oncogene, receptor tyrosine kinase
MFN2 mitofusin 2
MGMT O-6-methylguanine-DNA methyltransferase
MGP matrix Gla protein
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MIR10A microRNA 10a
MIR124-1 microRNA 124-1
MIR126 microRNA 126
MIR132 microRNA 132
MIR140 microRNA 140
MIR146A microRNA 146a
MIR148B microRNA 148b
MIR181A1 microRNA 181a-1
MIR181B1 microRNA 181b-1
MIR182 microRNA 182
MIR196B microRNA 196b
MIR199A1 microRNA 199a-1
MIR199A2 microRNA 199a-2
MIR205 microRNA 205
MIR21 microRNA 21
MIR223 microRNA 223
MIR29C microRNA 29c
MIR326 microRNA 326
MIR335 microRNA 335
MIR34A microRNA 34a
MIR34B microRNA 34b
MIR34C microRNA 34c
MIR424 microRNA 424
MIRLET7A1 microRNA let-7a-1
MITF microphthalmia-associated transcription factor
MKI67 marker of proliferation Ki-67
MKKS McKusick-Kaufman syndrome
MLH1 mutL homolog 1
MLN motilin
MME membrane metallo-endopeptidase
MMP12 matrix metallopeptidase 12
MMP13 matrix metallopeptidase 13
MMP2 matrix metallopeptidase 2
MMP7 matrix metallopeptidase 7
MMP9 matrix metallopeptidase 9
MPDZ multiple PDZ domain protein
MPL MPL proto-oncogene, thrombopoietin receptor
MPZ myelin protein zero
MSH2 mutS homolog 2
MST1R macrophage stimulating 1 receptor
MTA1 metastasis associated 1
MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTM1 myotubularin 1
MTNR1B melatonin receptor 1B
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MTTP microsomal triglyceride transfer protein
MUC1 mucin 1, cell surface associated
MUC16 mucin 16, cell surface associated
MUS81 MUS81 structure-specific endonuclease subunit
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYH11 myosin, heavy chain 11, smooth muscle
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYL9 myosin, light chain 9, regulatory
MYOM1 myomesin 1
NAPSA napsin A aspartic peptidase
NBEA neurobeachin
NCAM1 neural cell adhesion molecule 1
NDFIP1 Nedd4 family interacting protein 1
NEK2 NIMA-related kinase 2
NES nestin
NET1 neuroepithelial cell transforming 1
NEWENTRY Record to support submission of GeneRIFs for a gene not in Gene (human; man).
NFE2L2 nuclear factor, erythroid 2-like 2
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NGFR nerve growth factor receptor
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
NIPAL4 NIPA-like domain containing 4
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
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH1 notch 1
NOTCH3 notch 3
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NPPB natriuretic peptide B
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR2E3 nuclear receptor subfamily 2, group E, member 3
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NR5A1 nuclear receptor subfamily 5, group A, member 1
NRG1 neuregulin 1
NT5E 5'-nucleotidase, ecto (CD73)
NTF3 neurotrophin 3
NTNG2 netrin G2
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
NUB1 negative regulator of ubiquitin-like proteins 1
NUMA1 nuclear mitotic apparatus protein 1
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
OPN1SW opsin 1 (cone pigments), short-wave-sensitive
OPRK1 opioid receptor, kappa 1
OTOF otoferlin
PABPN1 poly(A) binding protein, nuclear 1
PACRG PARK2 co-regulated
PADI4 peptidyl arginine deiminase, type IV
PAEP progestagen-associated endometrial protein
PALLD palladin, cytoskeletal associated protein
PAPPA pregnancy-associated plasma protein A, pappalysin 1
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PARK2 parkin RBR E3 ubiquitin protein ligase
PARP1 poly (ADP-ribose) polymerase 1
PBOV1 prostate and breast cancer overexpressed 1
PBX3 pre-B-cell leukemia homeobox 3
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase
PCNA proliferating cell nuclear antigen
PCSK4 proprotein convertase subtilisin/kexin type 4
PDCD5 programmed cell death 5
PDLIM3 PDZ and LIM domain 3
PDZK1IP1 PDZK1 interacting protein 1
PEBP1 phosphatidylethanolamine binding protein 1
PEG3 paternally expressed 3
PEX12 peroxisomal biogenesis factor 12
PEX5 peroxisomal biogenesis factor 5
PGF placental growth factor
PGR progesterone receptor
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1
PINK1 PTEN induced putative kinase 1
PIP prolactin-induced protein
PIP5K1B phosphatidylinositol-4-phosphate 5-kinase, type I, beta
PIR pirin (iron-binding nuclear protein)
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PLAGL1 pleiomorphic adenoma gene-like 1
PLAT plasminogen activator, tissue
PLCZ1 phospholipase C, zeta 1
PLG plasminogen
PLK1 polo-like kinase 1
PLK3 polo-like kinase 3
PMM2 phosphomannomutase 2
POLB polymerase (DNA directed), beta
POLH polymerase (DNA directed), eta
POMC proopiomelanocortin
POMT1 protein-O-mannosyltransferase 1
PON1 paraoxonase 1
POT1 protection of telomeres 1
PPARG peroxisome proliferator-activated receptor gamma
PPP1R13B protein phosphatase 1, regulatory subunit 13B
PPP2CA protein phosphatase 2, catalytic subunit, alpha isozyme
PRDX6 peroxiredoxin 6
PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit
PRKCA protein kinase C, alpha
PRKCH protein kinase C, eta
PRKCZ protein kinase C, zeta
PRKD1 protein kinase D1
PRKDC protein kinase, DNA-activated, catalytic polypeptide
PRNP prion protein
PRODH proline dehydrogenase (oxidase) 1
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PROM1 prominin 1
PRSS8 protease, serine, 8
PSEN1 presenilin 1
PTBP2 polypyrimidine tract binding protein 2
PTEN phosphatase and tensin homolog
PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTK2 protein tyrosine kinase 2
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PTTG1 pituitary tumor-transforming 1
PVT1 Pvt1 oncogene (non-protein coding)
PYGO2 pygopus family PHD finger 2
PYY peptide YY
RAB4A RAB4A, member RAS oncogene family
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RACGAP1 Rac GTPase activating protein 1
RAD51 RAD51 recombinase
RAI1 retinoic acid induced 1
RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
RARA retinoic acid receptor, alpha
RARRES2 retinoic acid receptor responder (tazarotene induced) 2
RASSF1 Ras association (RalGDS/AF-6) domain family member 1
RB1 retinoblastoma 1
RBM25 RNA binding motif protein 25
RBP3 retinol binding protein 3, interstitial
RECK reversion-inducing-cysteine-rich protein with kazal motifs
RECQL4 RecQ protein-like 4
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
REN renin
REST RE1-silencing transcription factor
RETN resistin
RGS2 regulator of G-protein signaling 2
RHO rhodopsin
RHOA ras homolog family member A
RHOBTB2 Rho-related BTB domain containing 2
RPE65 retinal pigment epithelium-specific protein 65kDa
RPL11 ribosomal protein L11
RPL5 ribosomal protein L5
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RS1 retinoschisin 1
RSF1 remodeling and spacing factor 1
RSPO2 R-spondin 2
RTTN rotatin
RUNX1 runt-related transcription factor 1
RUNX2 runt-related transcription factor 2
RUNX3 runt-related transcription factor 3
RYR2 ryanodine receptor 2 (cardiac)
S100A2 S100 calcium binding protein A2
S100A4 S100 calcium binding protein A4
S100B S100 calcium binding protein B
S1PR1 sphingosine-1-phosphate receptor 1
SACS sacsin molecular chaperone
SATB1 SATB homeobox 1
SBDS Shwachman-Bodian-Diamond syndrome
SCARB1 scavenger receptor class B, member 1
SCD stearoyl-CoA desaturase (delta-9-desaturase)
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SCTR secretin receptor
SDC1 syndecan 1
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEPP1 selenoprotein P, plasma, 1
SEPT4 septin 4
SERPINB5 serpin peptidase inhibitor, clade B (ovalbumin), member 5
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SFN stratifin
SFRP1 secreted frizzled-related protein 1
SFRP2 secreted frizzled-related protein 2
SFRP5 secreted frizzled-related protein 5
SFTPA1 surfactant protein A1
SFTPB surfactant protein B
SFTPC surfactant protein C
SH2B1 SH2B adaptor protein 1
SHH sonic hedgehog
SHOX short stature homeobox
SIGMAR1 sigma non-opioid intracellular receptor 1
SIL1 SIL1 nucleotide exchange factor
SIRT1 sirtuin 1
SIRT3 sirtuin 3
SIRT6 sirtuin 6
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
SLC12A4 solute carrier family 12 (potassium/chloride transporter), member 4
SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13
SLC25A37 solute carrier family 25 (mitochondrial iron transporter), member 37
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC26A8 solute carrier family 26 (anion exchanger), member 8
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC4A3 solute carrier family 4 (anion exchanger), member 3
SLC5A3 solute carrier family 5 (sodium/myo-inositol cotransporter), member 3
SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SLN sarcolipin
SMAP1 small ArfGAP 1
SMC5 structural maintenance of chromosomes 5
SMC6 structural maintenance of chromosomes 6
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SNCG synuclein, gamma (breast cancer-specific protein 1)
SNRNP70 small nuclear ribonucleoprotein 70kDa (U1)
SOD1 superoxide dismutase 1, soluble
SOST sclerostin
SOX1 SRY (sex determining region Y)-box 1
SOX2 SRY (sex determining region Y)-box 2
SPAST spastin
SPG11 spastic paraplegia 11 (autosomal recessive)
SPIN1 spindlin 1
SPP1 secreted phosphoprotein 1
SPTAN1 spectrin, alpha, non-erythrocytic 1
SQSTM1 sequestosome 1
SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
SRF serum response factor (c-fos serum response element-binding transcription factor)
SRSF2 serine/arginine-rich splicing factor 2
SST somatostatin
STAB2 stabilin 2
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
STOML2 stomatin (EPB72)-like 2
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
STX2 syntaxin 2
SULF1 sulfatase 1
SULF2 sulfatase 2
SUZ12 SUZ12 polycomb repressive complex 2 subunit
SYCP3 synaptonemal complex protein 3
SYNGAP1 synaptic Ras GTPase activating protein 1
SYNPO2 synaptopodin 2
SYVN1 synovial apoptosis inhibitor 1, synoviolin
T T, brachyury homolog (mouse)
TACSTD2 tumor-associated calcium signal transducer 2
TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
TALDO1 transaldolase 1
TARDBP TAR DNA binding protein
TAZ tafazzin
TBP TATA box binding protein
TBX21 T-box 21
TBX5 T-box 5
TCF4 transcription factor 4
TCL1A T-cell leukemia/lymphoma 1A
TCP1 t-complex 1
TERF1 telomeric repeat binding factor (NIMA-interacting) 1
TERT telomerase reverse transcriptase
TF transferrin
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TG thyroglobulin
TGFB1 transforming growth factor, beta 1
TGFB1I1 transforming growth factor beta 1 induced transcript 1
TGFB3 transforming growth factor, beta 3
TGFBI transforming growth factor, beta-induced, 68kDa
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TGIF1 TGFB-induced factor homeobox 1
TGM1 transglutaminase 1
TGS1 trimethylguanosine synthase 1
TH tyrosine hydroxylase
THBS1 thrombospondin 1
TIMP1 TIMP metallopeptidase inhibitor 1
TIMP2 TIMP metallopeptidase inhibitor 2
TIMP3 TIMP metallopeptidase inhibitor 3
TLR2 toll-like receptor 2
TLR3 toll-like receptor 3
TLR4 toll-like receptor 4
TLR5 toll-like receptor 5
TLR7 toll-like receptor 7
TNC tenascin C
TNF tumor necrosis factor
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF18 tumor necrosis factor receptor superfamily, member 18
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF8 tumor necrosis factor receptor superfamily, member 8
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNFSF13 tumor necrosis factor (ligand) superfamily, member 13
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TNNT3 troponin T type 3 (skeletal, fast)
TOR1A torsin family 1, member A (torsin A)
TP53 tumor protein p53
TP63 tumor protein p63
TPI1 triosephosphate isomerase 1
TPM2 tropomyosin 2 (beta)
TPO thyroid peroxidase
TPPP tubulin polymerization promoting protein
TPX2 TPX2, microtubule-associated
TRA T cell receptor alpha locus
TRB T cell receptor beta locus
TRPC1 transient receptor potential cation channel, subfamily C, member 1
TRPC6 transient receptor potential cation channel, subfamily C, member 6
TRPM6 transient receptor potential cation channel, subfamily M, member 6
TRPV2 transient receptor potential cation channel, subfamily V, member 2
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSHB thyroid stimulating hormone, beta
TSN translin
TTR transthyretin
TUBA1A tubulin, alpha 1a
TWIST1 twist family bHLH transcription factor 1
TYR tyrosinase
U2AF1 U2 small nuclear RNA auxiliary factor 1
UBQLN2 ubiquilin 2
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6
UGT1A7 UDP glucuronosyltransferase 1 family, polypeptide A7
USF2 upstream transcription factor 2, c-fos interacting
VCP valosin containing protein
VDAC1 voltage-dependent anion channel 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VEGFC vascular endothelial growth factor C
VIP vasoactive intestinal peptide
VIPR2 vasoactive intestinal peptide receptor 2
VPS33B vacuolar protein sorting 33 homolog B (yeast)
VSX1 visual system homeobox 1
VWF von Willebrand factor
WAS Wiskott-Aldrich syndrome
WDR62 WD repeat domain 62
WFS1 Wolfram syndrome 1 (wolframin)
WIF1 WNT inhibitory factor 1
WNT1 wingless-type MMTV integration site family, member 1
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
WTAP Wilms tumor 1 associated protein
WWOX WW domain containing oxidoreductase
XPC xeroderma pigmentosum, complementation group C
XPO1 exportin 1
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1
YBX2 Y box binding protein 2
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
YY1 YY1 transcription factor
ZMPSTE24 zinc metallopeptidase STE24
ZNF804A zinc finger protein 804A
ZP1 zona pellucida glycoprotein 1 (sperm receptor)
ZP2 zona pellucida glycoprotein 2 (sperm receptor)
ZP3 zona pellucida glycoprotein 3 (sperm receptor)