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MITF |
melanocyte inducing transcription factor |
- SUMOylation of transcription factors
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- Ocular albinism; Ocular albinism, type I (OA1); Waardenburg syndrome, type II (WS2-OA)
- Waardenburg syndrome (WS)
- Malignant melanoma
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PSEN1 |
presenilin 1 |
- Nuclear signaling by ERBB4
- Degradation of the extracellular matrix
- Regulated proteolysis of p75NTR
- NRIF signals cell death from the nucleus
- Activated NOTCH1 Transmits Signal to the Nucleus
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- NOTCH2 Activation and Transmission of Signal to the Nucleus
- EPH-ephrin mediated repulsion of cells
- Neutrophil degranulation
- NOTCH3 Activation and Transmission of Signal to the Nucleus
- NOTCH4 Activation and Transmission of Signal to the Nucleus
- Noncanonical activation of NOTCH3
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- Acne inversa; Hidradenitis supprativa
- Frontotemporal lobar degeneration (FTLD), including: Pick disease of brain; Frontotemporal dementia (FTD); Ubiquitin-positive frontotemporal dementia (UP-FTD); Progressive supranuclear palsy type 1 (PSNP1); Inclusion body myopathy with early-onset paget disease and frontotemporal dementia (IBMPFD); Frontotemporal dementia, chromosome 3-linked (FTD3)
- Alzheimer's disease (AD)
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PTGS2 |
prostaglandin-endoperoxide synthase 2 |
- Nicotinamide salvaging
- Synthesis of 15-eicosatetraenoic acid derivatives
- Synthesis of Prostaglandins (PG) and Thromboxanes (TX)
- Interleukin-10 signaling
- Interleukin-4 and Interleukin-13 signaling
- Biosynthesis of DHA-derived SPMs
- Biosynthesis of EPA-derived SPMs
- Biosynthesis of DPAn-3 SPMs
- Biosynthesis of electrophilic ω-3 PUFA oxo-derivatives
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- Dihomo-gamma-linolenic acid
- Icosapent
- Aminosalicylic acid
- Mesalazine
- Acetaminophen
- Indomethacin
- Nabumetone
- Ketorolac
- Tenoxicam
- Lenalidomide
- Celecoxib
- Tolmetin
- Rofecoxib
- Piroxicam
- Fenoprofen
- Valdecoxib
- Diclofenac
- Sulindac
- Flurbiprofen
- Etodolac
- Mefenamic acid
- Naproxen
- Sulfasalazine
- Phenylbutazone
- Meloxicam
- Carprofen
- Diflunisal
- Suprofen
- Salicylic acid
- Meclofenamic acid
- Acetylsalicylic acid
- Bromfenac
- Oxaprozin
- Ketoprofen
- Balsalazide
- Thalidomide
- Ibuprofen
- Lumiracoxib
- Magnesium salicylate
- Salsalate
- Choline magnesium trisalicylate
- Ginseng
- Antrafenine
- Antipyrine
- Tiaprofenic acid
- Etoricoxib
- Flufenamic acid
- Resveratrol
- 1-Phenylsulfonamide-3-Trifluoromethyl-5-Parabromophenylpyrazole
- Prostaglandin G2
- Niflumic acid
- Licofelone
- Nimesulide
- Cimicoxib
- Lornoxicam
- Aceclofenac
- Nepafenac
- Parecoxib
- Pomalidomide
- Cannabidiol
- Loxoprofen
- Dexibuprofen
- Dexketoprofen
- Droxicam
- Tolfenamic acid
- Firocoxib
- Morniflumate
- Propacetamol
- Talniflumate
- Phenyl salicylate
- Trolamine salicylate
- Menthyl salicylate
- Glycol salicylate
- Dipyrithione
- Bryostatin 1
- Alclofenac
- Bufexamac
- Bendazac
- Acemetacin
- Fish oil
- Medical Cannabis
- Nabiximols
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- Esophageal cancer
- Cholangiocarcinoma
- Penile cancer
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TGFBR2 |
transforming growth factor beta receptor 2 |
- Downregulation of TGF-beta receptor signaling
- Downregulation of TGF-beta receptor signaling
- TGF-beta receptor signaling activates SMADs
- TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
- TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
- SMAD2/3 Phosphorylation Motif Mutants in Cancer
- TGFBR2 MSI Frameshift Mutants in Cancer
- TGFBR2 Kinase Domain Mutants in Cancer
- TGFBR1 KD Mutants in Cancer
- TGFBR1 LBD Mutants in Cancer
- UCH proteinases
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- Foreskin fibroblast (neonatal)
- Foreskin keratinocyte (neonatal)
- Fostamatinib
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- Colorectal cancer
- Loeys-Dietz syndrome (LDS)
- Familial thoracic aortic aneurysm and dissection (TAAD); Aortic aneurysm familial thoracic type (AAT)
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AXIN1 |
axin 1 |
- Degradation of beta-catenin by the destruction complex
- Beta-catenin phosphorylation cascade
- TCF dependent signaling in response to WNT
- Degradation of AXIN
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Signaling by GSK3beta mutants
- S33 mutants of beta-catenin aren't phosphorylated
- S37 mutants of beta-catenin aren't phosphorylated
- S45 mutants of beta-catenin aren't phosphorylated
- T41 mutants of beta-catenin aren't phosphorylated
- APC truncation mutants have impaired AXIN binding
- AXIN missense mutants destabilize the destruction complex
- Truncations of AMER1 destabilize the destruction complex
- Ub-specific processing proteases
- RUNX1 regulates estrogen receptor mediated transcription
- RUNX1 regulates transcription of genes involved in WNT signaling
- Estrogen-dependent gene expression
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- Hepatocellular carcinoma
- Caudal duplication anomaly
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AXIN2 |
axin 2 |
- TCF dependent signaling in response to WNT
- Binding of TCF/LEF:CTNNB1 to target gene promoters
- Degradation of AXIN
- Ub-specific processing proteases
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- Tooth agenesis; Hypodontia
- Oligodontia-colorectal cancer syndrome
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BRCA1 |
BRCA1 DNA repair associated |
- Meiotic synapsis
- SUMOylation of DNA damage response and repair proteins
- HDR through Single Strand Annealing (SSA)
- HDR through Homologous Recombination (HRR)
- Metalloprotease DUBs
- Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Resolution of D-loop Structures through Holliday Junction Intermediates
- Nonhomologous End-Joining (NHEJ)
- Homologous DNA Pairing and Strand Exchange
- Processing of DNA double-strand break ends
- Presynaptic phase of homologous DNA pairing and strand exchange
- TP53 Regulates Transcription of DNA Repair Genes
- Regulation of TP53 Activity through Phosphorylation
- G2/M DNA damage checkpoint
- Transcriptional Regulation by E2F6
- Meiotic recombination
- Defective DNA double strand break response due to BRCA1 loss of function
- Defective DNA double strand break response due to BARD1 loss of function
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- Breast cancer
- Ovarian cancer
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CDH3 |
cadherin 3 |
- Adherens junctions interactions
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- Hypotrichosis, congenital, with juvenile macular dystrophy
- Ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM syndrome)
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FHIT |
fragile histidine triad diadenosine triphosphatase |
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- Adenosine monotungstate
- Ado-P-Ch2-P-Ps-Ado
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- Non-small cell lung cancer
- Small cell lung cancer
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FUS |
FUS RNA binding protein |
- mRNA Splicing - Major Pathway
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- Amyotrophic lateral sclerosis (ALS); Lou Gehrig's disease
- Myxoid liposarcoma
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KMT2A |
lysine methyltransferase 2A |
- PKMTs methylate histone lysines
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- Transcriptional regulation of granulopoiesis
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- Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia)
- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
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NF2 |
neurofibromin 2 |
- Regulation of actin dynamics for phagocytic cup formation
- RHO GTPases activate PAKs
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- Malignant pleural mesothelioma
- 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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NOTCH1 |
notch receptor 1 |
- Pre-NOTCH Processing in the Endoplasmic Reticulum
- Pre-NOTCH Transcription and Translation
- Pre-NOTCH Transcription and Translation
- Pre-NOTCH Processing in Golgi
- Pre-NOTCH Processing in Golgi
- Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
- NOTCH1 Intracellular Domain Regulates Transcription
- NOTCH1 Intracellular Domain Regulates Transcription
- Activated NOTCH1 Transmits Signal to the Nucleus
- Activated NOTCH1 Transmits Signal to the Nucleus
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling
- Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
- Constitutive Signaling by NOTCH1 HD Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- Notch-HLH transcription pathway
- Defective LFNG causes SCDO3
- RUNX3 regulates NOTCH signaling
- RUNX3 regulates NOTCH signaling
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH4 Intracellular Domain Regulates Transcription
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- Bicuspid aortic valve
- Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia)
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NR5A1 |
nuclear receptor subfamily 5 group A member 1 |
- Nuclear Receptor transcription pathway
- SUMOylation of intracellular receptors
- Transcriptional regulation of pluripotent stem cells
- Transcriptional regulation of testis differentiation
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- (2R)-3-{[{[(2S)-2,3-DIHYDROXYPROPYL]OXY}(HYDROXY)PHOSPHORYL]OXY}-2-[(9E)-HEXADEC-9-ENOYLOXY]PROPYL (9E)-OCTADEC-9-ENOATE
- Phosphatidyl ethanol
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- Premature ovarian failure
- 46,XY disorders of sex development (Disorders of gonadal development), including: Gonadal agenesis; Complete and partial gonadal dysgenesis; Testis regression; Ovotesticular DSD
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TGFBR1 |
transforming growth factor beta receptor 1 |
- Downregulation of TGF-beta receptor signaling
- Downregulation of TGF-beta receptor signaling
- TGF-beta receptor signaling activates SMADs
- TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
- TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
- SMAD2/3 Phosphorylation Motif Mutants in Cancer
- TGFBR2 Kinase Domain Mutants in Cancer
- TGFBR1 KD Mutants in Cancer
- TGFBR1 LBD Mutants in Cancer
- UCH proteinases
- Ub-specific processing proteases
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- 4-(3-Pyridin-2-Yl-1h-Pyrazol-4-Yl)Quinoline
- Naphthyridine Inhibitor
- 3-(4-Fluorophenyl)-2-(6-Methylpyridin-2-Yl)-5,6-Dihydro-4h-Pyrrolo[1,2-B]Pyrazole
- N-[4-(5-fluoro-6-methylpyridin-2-yl)-5-quinoxalin-6-yl-1H-imidazol-2-yl]acetamide
- 2-(6-methylpyridin-2-yl)-N-pyridin-4-ylquinazolin-4-amine
- N-1H-indazol-5-yl-2-(6-methylpyridin-2-yl)quinazolin-4-amine
- Fostamatinib
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- Loeys-Dietz syndrome (LDS)
- Familial thoracic aortic aneurysm and dissection (TAAD); Aortic aneurysm familial thoracic type (AAT)
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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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AMER1 |
APC membrane recruitment protein 1 |
- Degradation of beta-catenin by the destruction complex
- Beta-catenin phosphorylation cascade
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Signaling by GSK3beta mutants
- S33 mutants of beta-catenin aren't phosphorylated
- S37 mutants of beta-catenin aren't phosphorylated
- S45 mutants of beta-catenin aren't phosphorylated
- T41 mutants of beta-catenin aren't phosphorylated
- APC truncation mutants have impaired AXIN binding
- AXIN missense mutants destabilize the destruction complex
- Truncations of AMER1 destabilize the destruction complex
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- Osteopathia striata with cranial sclerosis
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APC2 |
APC regulator of WNT signaling pathway 2 |
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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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BCL6 |
BCL6 transcription repressor |
- Interleukin-4 and Interleukin-13 signaling
- TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
- FOXO-mediated transcription of cell death genes
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