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GARS1 |
glycyl-tRNA synthetase 1 |
- Cytosolic tRNA aminoacylation
- Mitochondrial tRNA aminoacylation
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- Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
- Distal hereditary motor neuropathies (dHMN)
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STAT3 |
signal transducer and activator of transcription 3 |
- Interleukin-6 signaling
- BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
- Interleukin-7 signaling
- Interleukin-7 signaling
- Signaling by SCF-KIT
- Signaling by cytosolic FGFR1 fusion mutants
- Downstream signal transduction
- Signalling to STAT3
- Senescence-Associated Secretory Phenotype (SASP)
- Signaling by Leptin
- POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation
- Association of TriC/CCT with target proteins during biosynthesis
- Transcriptional regulation of pluripotent stem cells
- Interleukin-10 signaling
- Interleukin-4 and Interleukin-13 signaling
- PTK6 Activates STAT3
- PTK6 Activates STAT3
- Interleukin-20 family signaling
- MET activates STAT3
- MET activates STAT3
- Interleukin-15 signaling
- Interleukin-35 Signalling
- Interleukin-9 signaling
- Interleukin-37 signaling
- Interleukin-23 signaling
- Interleukin-23 signaling
- Interleukin-27 signaling
- Interleukin-21 signaling
- Transcriptional regulation of granulopoiesis
- Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants
- Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants
- Signaling by PDGFRA extracellular domain mutants
- Growth hormone receptor signaling
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- Other well-defined immunodeficiency syndromes, including the following seven diseases: Wiskott-Aldrich syndrome; DiGeorge syndrome; Hyper-IgE syndrome; X-linked lymphoproliferative syndrome; Immunodeficiency, Polyendocrinopathy, Enteropathy, X-linked Syndrome (IPEX); Cartilage-Hair Hypoplasia; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
- Oral cancer
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AIMP1 |
aminoacyl tRNA synthetase complex interacting multifunctional protein 1 |
- Selenoamino acid metabolism
- Cytosolic tRNA aminoacylation
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- Hypomyelinating leukodystrophy (HLD); Pelizaeus-Merzbacher disease (PMD)
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AKT1 |
AKT serine/threonine kinase 1 |
- Activation of BAD and translocation to mitochondria
- PIP3 activates AKT signaling
- PIP3 activates AKT signaling
- Downregulation of ERBB2:ERBB3 signaling
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
- MTOR signalling
- AKT phosphorylates targets in the cytosol
- AKT phosphorylates targets in the cytosol
- AKT phosphorylates targets in the nucleus
- Negative regulation of the PI3K/AKT network
- eNOS activation
- AKT-mediated inactivation of FOXO1A
- Integrin signaling
- Deactivation of the beta-catenin transactivating complex
- CD28 dependent PI3K/Akt signaling
- CTLA4 inhibitory signaling
- G beta:gamma signalling through PI3Kgamma
- Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA
- KSRP (KHSRP) binds and destabilizes mRNA
- VEGFR2 mediated vascular permeability
- TP53 Regulates Metabolic Genes
- Constitutive Signaling by AKT1 E17K in Cancer
- Interleukin-4 and Interleukin-13 signaling
- Regulation of TP53 Degradation
- Regulation of TP53 Activity through Acetylation
- Regulation of TP53 Activity through Association with Co-factors
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- Cyclin E associated events during G1/S transition
- Cyclin A:Cdk2-associated events at S phase entry
- PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1
- RAB GEFs exchange GTP for GDP on RABs
- RUNX2 regulates genes involved in cell migration
- Regulation of PTEN stability and activity
- Extra-nuclear estrogen signaling
- Negative regulation of NOTCH4 signaling
- FLT3 Signaling
- Regulation of localization of FOXO transcription factors
- Estrogen-dependent nuclear events downstream of ESR-membrane signaling
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- ATP
- Arsenic trioxide
- Genistein
- Inositol 1,3,4,5-Tetrakisphosphate
- Resveratrol
- Archexin
- Enzastaurin
- Perifosine
- N-[2-(5-methyl-4H-1,2,4-triazol-3-yl)phenyl]-7H-pyrrolo[2,3-d]pyrimidin-4-amine
- 5-(5-chloro-7H-pyrrolo[2,3-d]pyrimidin-4-yl)-4,5,6,7-tetrahydro-1H-imidazo[4,5-c]pyridine
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- PTEN hamartoma tumor syndrome (PHTS), including: Cowden syndrome; Bannayan-Riley-Ruvalcaba syndrome; Proteus syndrome; Proteus-like syndrome
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APP |
amyloid beta precursor protein |
- Platelet degranulation
- ECM proteoglycans
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- G alpha (q) signalling events
- G alpha (i) signalling events
- Lysosome Vesicle Biogenesis
- Formyl peptide receptors bind formyl peptides and many other ligands
- TAK1 activates NFkB by phosphorylation and activation of IKKs complex
- The NLRP3 inflammasome
- Advanced glycosylation endproduct receptor signaling
- Advanced glycosylation endproduct receptor signaling
- Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
- Post-translational protein phosphorylation
- TRAF6 mediated NF-kB activation
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
- Purinergic signaling in leishmaniasis infection
- Amyloid fiber formation
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- Deferoxamine
- Aluminium
- Zinc
- L-methionine (R)-S-oxide
- Resveratrol
- Tromethamine
- Phenserine
- Tetrathiomolybdate
- CAD106
- Mito-4509
- Edonerpic
- Dimercaprol
- Copper
- Florbetaben (18F)
- Florbetapir (18F)
- Flutemetamol (18F)
- Zinc acetate
- Aluminium phosphate
- Aluminum acetate
- Zinc chloride
- Zinc sulfate, unspecified form
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CBL |
Cbl proto-oncogene |
- Interleukin-6 signaling
- Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
- Spry regulation of FGF signaling
- Regulation of KIT signaling
- EGFR downregulation
- TGF-beta receptor signaling activates SMADs
- Constitutive Signaling by EGFRvIII
- Negative regulation of FGFR1 signaling
- Negative regulation of FGFR2 signaling
- Negative regulation of FGFR3 signaling
- Negative regulation of FGFR4 signaling
- Negative regulation of MET activity
- PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- InlB-mediated entry of Listeria monocytogenes into host cell
- InlB-mediated entry of Listeria monocytogenes into host cell
- Regulation of signaling by CBL
- Regulation of signaling by CBL
- Negative regulation of FLT3
- FLT3 signaling by CBL mutants
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- Noonan syndrome and related disorders, including: Noonan syndrome (NS); Leopard syndrome (LS); Noonan syndrome-like with loose anagen hair (NS/LAH); CBL-mutation associated syndrome (CBL); Neurofibromatosis type 1 (NF1); Neurofibromatosis type 2 (NF2); Neurofibromatosis-Noonan syndrome (NFNS); Legius syndrome; Cardiofaciocutaneous syndrome (CFCS); Costello syndrome (CS)
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CDKN1A |
cyclin dependent kinase inhibitor 1A |
- SCF(Skp2)-mediated degradation of p27/p21
- AKT phosphorylates targets in the cytosol
- Senescence-Associated Secretory Phenotype (SASP)
- DNA Damage/Telomere Stress Induced Senescence
- Constitutive Signaling by AKT1 E17K in Cancer
- Interleukin-4 and Interleukin-13 signaling
- TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest
- Cyclin E associated events during G1/S transition
- Cyclin D associated events in G1
- p53-Dependent G1 DNA Damage Response
- Cyclin A:Cdk2-associated events at S phase entry
- Transcriptional activation of cell cycle inhibitor p21
- The role of GTSE1 in G2/M progression after G2 checkpoint
- TFAP2 (AP-2) family regulates transcription of cell cycle factors
- Transcriptional regulation by RUNX2
- RUNX3 regulates CDKN1A transcription
- Transcriptional regulation of granulopoiesis
- FOXO-mediated transcription of cell cycle genes
- Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)
- STAT5 activation downstream of FLT3 ITD mutants
- Signaling by FLT3 fusion proteins
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CEBPA |
CCAAT enhancer binding protein alpha |
- Transcriptional regulation of white adipocyte differentiation
- Transcriptional regulation of white adipocyte differentiation
- Transcriptional regulation of granulopoiesis
- Transcriptional regulation of granulopoiesis
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- Acute myeloid leukemia (AML)
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ELK4 |
ETS transcription factor ELK4 |
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EP300 |
E1A binding protein p300 |
- Regulation of gene expression by Hypoxia-inducible Factor
- RORA activates gene expression
- Polo-like kinase mediated events
- Pre-NOTCH Transcription and Translation
- Pre-NOTCH Transcription and Translation
- PPARA activates gene expression
- PPARA activates gene expression
- Formation of the beta-catenin:TCF transactivating complex
- Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
- NOTCH1 Intracellular Domain Regulates Transcription
- NOTCH1 Intracellular Domain Regulates Transcription
- NOTCH2 intracellular domain regulates transcription
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production
- HATs acetylate histones
- Attenuation phase
- Transcriptional regulation of white adipocyte differentiation
- Transcriptional regulation of white adipocyte differentiation
- SUMOylation of transcription cofactors
- Circadian Clock
- B-WICH complex positively regulates rRNA expression
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- CD209 (DC-SIGN) signaling
- Metalloprotease DUBs
- Formation of TC-NER Pre-Incision Complex
- Transcription-Coupled Nucleotide Excision Repair (TC-NER)
- Dual incision in TC-NER
- Gap-filling DNA repair synthesis and ligation in TC-NER
- TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
- Regulation of TP53 Activity through Acetylation
- Regulation of TP53 Activity through Methylation
- PI5P Regulates TP53 Acetylation
- Activation of the TFAP2 (AP-2) family of transcription factors
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- RUNX3 regulates NOTCH signaling
- RUNX3 regulates NOTCH signaling
- Regulation of RUNX3 expression and activity
- RUNX3 regulates p14-ARF
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH4 Intracellular Domain Regulates Transcription
- Estrogen-dependent gene expression
- NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
- NGF-stimulated transcription
- NGF-stimulated transcription
- TRAF3-dependent IRF activation pathway
- TRAF6 mediated IRF7 activation
- FOXO-mediated transcription of cell death genes
- Transcriptional regulation of granulopoiesis
- Transcriptional regulation of granulopoiesis
- Regulation of FOXO transcriptional activity by acetylation
- Regulation of FOXO transcriptional activity by acetylation
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- Rubinstein-Taybi syndrome
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GSTP1 |
glutathione S-transferase pi 1 |
- Glutathione conjugation
- Detoxification of Reactive Oxygen Species
- Neutrophil degranulation
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- Glutathione
- Troglitazone
- Clozapine
- Etacrynic acid
- Clomipramine
- (9R,10R)-9-(S-glutathionyl)-10-hydroxy-9,10-dihydrophenanthrene
- S-Hydroxycysteine
- Cibacron Blue
- Glutathione sulfonic acid
- Glutathione disulfide
- Deoxycholic acid
- S-(4-nitrobenzyl)glutathione
- 2-(N-morpholino)ethanesulfonic acid
- S-Hexylglutathione
- Carbocisteine
- Canfosfamide
- Ezatiostat
- Exisulind
- S-NONYL-CYSTEINE
- S-(4-BROMOBENZYL)CYSTEINE
- Curcumin
- Dinitrochlorobenzene
- Hypericin
- Curcumin sulfate
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HSD17B4 |
hydroxysteroid 17-beta dehydrogenase 4 |
- Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
- alpha-linolenic acid (ALA) metabolism
- Beta-oxidation of pristanoyl-CoA
- Beta-oxidation of very long chain fatty acids
- Peroxisomal protein import
- Peroxisomal protein import
- TYSND1 cleaves peroxisomal proteins
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- NADH
- (R)-3-hydroxydecanoyl-CoA
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- Peroxisomal beta-oxidation enzyme deficiency, including: Acyl-CoA oxidase (ACOX) deficiency; D-bifunctional protein (DBP) deficiency; Perrault syndrome; Sterol carrier protein X (SCPx) deficiency; 2-Methylacyl-CoA racemase (AMCR) deficiency; Hypercholanemia
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MAP2K1 |
mitogen-activated protein kinase kinase 1 |
- MAPK3 (ERK1) activation
- Frs2-mediated activation
- Signal transduction by L1
- Uptake and function of anthrax toxins
- RAF activation
- MAP2K and MAPK activation
- Negative feedback regulation of MAPK pathway
- MAP3K8 (TPL2)-dependent MAPK1/3 activation
- Signaling by moderate kinase activity BRAF mutants
- Signaling by high-kinase activity BRAF mutants
- Signaling by BRAF and RAF fusions
- Paradoxical activation of RAF signaling by kinase inactive BRAF
- Signaling downstream of RAS mutants
- Signaling by MAP2K mutants
- Signaling by RAF1 mutants
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- K-252a
- 5-Bromo-N-[(2S)-2,3-dihydroxypropoxy]-3,4-difluoro-2-[(2-fluoro-4-iodophenyl)amino]benzamide
- Cobimetinib
- Bosutinib
- (5S)-4,5-difluoro-6-[(2-fluoro-4-iodophenyl)imino]-N-(2-hydroxyethoxy)cyclohexa-1,3-diene-1-carboxamide
- 2-[(2-chloro-4-iodophenyl)amino]-N-{[(2R)-2,3-dihydroxypropyl]oxy}-3,4-difluorobenzamide
- PD-0325901
- N-(5-{3,4-difluoro-2-[(2-fluoro-4-iodophenyl)amino]phenyl}-1,3,4-oxadiazol-2-yl)ethane-1,2-diamine
- 2-[(4-ETHYNYL-2-FLUOROPHENYL)AMINO]-3,4-DIFLUORO-N-(2-HYDROXYETHOXY)BENZAMIDE
- Trametinib
- Selumetinib
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- Noonan syndrome and related disorders, including: Noonan syndrome (NS); Leopard syndrome (LS); Noonan syndrome-like with loose anagen hair (NS/LAH); CBL-mutation associated syndrome (CBL); Neurofibromatosis type 1 (NF1); Neurofibromatosis type 2 (NF2); Neurofibromatosis-Noonan syndrome (NFNS); Legius syndrome; Cardiofaciocutaneous syndrome (CFCS); Costello syndrome (CS)
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MAP2K2 |
mitogen-activated protein kinase kinase 2 |
- MAPK1 (ERK2) activation
- Frs2-mediated activation
- Signal transduction by L1
- Uptake and function of anthrax toxins
- RAF activation
- MAP2K and MAPK activation
- Negative feedback regulation of MAPK pathway
- Signaling by moderate kinase activity BRAF mutants
- Signaling by high-kinase activity BRAF mutants
- Signaling by BRAF and RAF fusions
- Paradoxical activation of RAF signaling by kinase inactive BRAF
- Signaling downstream of RAS mutants
- Signaling by MAP2K mutants
- Signaling by RAF1 mutants
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- Bosutinib
- Trametinib
- Selumetinib
- Binimetinib
- Fostamatinib
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- Noonan syndrome and related disorders, including: Noonan syndrome (NS); Leopard syndrome (LS); Noonan syndrome-like with loose anagen hair (NS/LAH); CBL-mutation associated syndrome (CBL); Neurofibromatosis type 1 (NF1); Neurofibromatosis type 2 (NF2); Neurofibromatosis-Noonan syndrome (NFNS); Legius syndrome; Cardiofaciocutaneous syndrome (CFCS); Costello syndrome (CS)
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NR3C1 |
nuclear receptor subfamily 3 group C member 1 |
- HSP90 chaperone cycle for steroid hormone receptors (SHR)
- Circadian Clock
- SUMOylation of intracellular receptors
- PTK6 Expression
- Regulation of RUNX2 expression and activity
- FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
- Potential therapeutics for SARS
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- Flunisolide
- Diflorasone
- Alclometasone
- Medrysone
- Amcinonide
- Fluorometholone
- Megestrol acetate
- Levonorgestrel
- Beclomethasone dipropionate
- Progesterone
- Spironolactone
- Betamethasone
- Desoximetasone
- Fluticasone propionate
- Fluocinolone acetonide
- Ulobetasol
- Triamcinolone
- Prednisone
- Flumethasone
- Fludrocortisone
- Norethisterone
- Hydrocortisone
- Mometasone
- Hydrocortamate
- Mifepristone
- Clocortolone
- Flurandrenolide
- Prednisolone
- Loteprednol etabonate
- Rimexolone
- Methylprednisolone
- Clobetasol propionate
- Fluocinonide
- Prednicarbate
- Fluoxymesterone
- Budesonide
- Dexamethasone
- Desonide
- Cortisone acetate
- Paramethasone
- Drospirenone
- Ciclesonide
- Hexane-1,6-Diol
- Aldosterone
- ORG-34517
- Difluprednate
- Ulipristal
- Fluticasone furoate
- Tixocortol
- Difluocortolone
- Gestrinone
- Deflazacort
- Onapristone
- Cortivazol
- Clobetasone
- Fluticasone
- Mometasone furoate
- Hydrocortisone aceponate
- Hydrocortisone acetate
- Hydrocortisone butyrate
- Hydrocortisone cypionate
- Hydrocortisone phosphate
- Hydrocortisone probutate
- Hydrocortisone valerate
- Segesterone acetate
- Prednisolone phosphate
- Dexamethasone acetate
- Betamethasone phosphate
- Prednisolone acetate
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- 46,XX disorders of sex development (Disorders related to androgen excess), including: Congenital adrenal hyperplasias; Glucocorticoid resistance; Aromatase deficiency
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PAX2 |
paired box 2 |
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- Renal coloboma syndrome (RCS); Papillorenal syndrome
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REL |
REL proto-oncogene, NF-kB subunit |
- Activation of NF-kappaB in B cells
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SMAD2 |
SMAD family member 2 |
- Signaling by NODAL
- Signaling by NODAL
- Signaling by Activin
- Downregulation of TGF-beta receptor signaling
- TGF-beta receptor signaling activates SMADs
- Downregulation of SMAD2/3:SMAD4 transcriptional activity
- Downregulation of SMAD2/3:SMAD4 transcriptional activity
- SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
- SMAD2/3 Phosphorylation Motif Mutants in Cancer
- SMAD4 MH2 Domain Mutants in Cancer
- SMAD2/3 MH2 Domain Mutants in Cancer
- TGFBR1 KD Mutants in Cancer
- Transcriptional regulation of pluripotent stem cells
- Ub-specific processing proteases
- FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
- FOXO-mediated transcription of cell cycle genes
- FOXO-mediated transcription of cell cycle genes
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SPI1 |
Spi-1 proto-oncogene |
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- Transcriptional regulation of granulopoiesis
- Transcriptional regulation of granulopoiesis
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- Acute myeloid leukemia (AML)
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TNFSF11 |
TNF superfamily member 11 |
- TNFR2 non-canonical NF-kB pathway
- TNFs bind their physiological receptors
- TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway
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- Lenalidomide
- AMGN-0007
- Denosumab
- Thiocolchicoside
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- Osteopetrosis, including: Osteopetrosis, severe neonatal or infantile forms; Osteopetrosis, intermediate forms; Osteopetrosis with renal tubular acidosis; Osteopetrosis, late-onset form type 1; Osteopetrosis, late-onset form type 2; Osteopetrosis, osteoclast poor
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