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EGFR |
epidermal growth factor receptor |
- Signaling by ERBB2
- Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
- Signaling by ERBB4
- SHC1 events in ERBB2 signaling
- SHC1 events in ERBB2 signaling
- PLCG1 events in ERBB2 signaling
- PIP3 activates AKT signaling
- Signaling by EGFR
- GRB2 events in EGFR signaling
- GAB1 signalosome
- SHC1 events in EGFR signaling
- EGFR downregulation
- GRB2 events in ERBB2 signaling
- PI3K events in ERBB2 signaling
- EGFR interacts with phospholipase C-gamma
- EGFR Transactivation by Gastrin
- Constitutive Signaling by Aberrant PI3K in Cancer
- Signal transduction by L1
- Constitutive Signaling by EGFRvIII
- Inhibition of Signaling by Overexpressed EGFR
- RAF/MAP kinase cascade
- ERBB2 Regulates Cell Motility
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- ERBB2 Activates PTK6 Signaling
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- PTK6 promotes HIF1A stabilization
- Downregulation of ERBB2 signaling
- TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
- Extra-nuclear estrogen signaling
- NOTCH3 Activation and Transmission of Signal to the Nucleus
- HCMV Early Events
- Estrogen-dependent nuclear events downstream of ESR-membrane signaling
- Signaling by ERBB2 KD Mutants
- Signaling by ERBB2 ECD mutants
- Signaling by ERBB2 TMD/JMD mutants
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- Cetuximab
- Lidocaine
- Gefitinib
- Erlotinib
- Lapatinib
- Panitumumab
- Alvocidib
- IGN311
- Matuzumab
- Vandetanib
- Rindopepimut
- Canertinib
- Pelitinib
- Varlitinib
- AV-412
- S-{3-[(4-ANILINOQUINAZOLIN-6-YL)AMINO]-3-OXOPROPYL}-L-CYSTEINE
- PD-168393
- Afatinib
- Osimertinib
- Necitumumab
- Foreskin keratinocyte (neonatal)
- Depatuxizumab mafodotin
- Icotinib
- Neratinib
- Dacomitinib
- Fostamatinib
- Zalutumumab
- Brigatinib
- Olmutinib
- Zanubrutinib
- Abivertinib
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- Choriocarcinoma
- Gastric cancer
- Bladder cancer
- Oral cancer
- Glioma
- Laryngeal cancer
- Cervical cancer
- Esophageal cancer
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PTEN |
phosphatase and tensin homolog |
- Synthesis of PIPs at the plasma membrane
- Synthesis of IP3 and IP4 in the cytosol
- Negative regulation of the PI3K/AKT network
- Downstream TCR signaling
- TP53 Regulates Metabolic Genes
- PTEN Loss of Function in Cancer
- Ub-specific processing proteases
- Ovarian tumor domain proteases
- Regulation of PTEN mRNA translation
- Regulation of PTEN localization
- Regulation of PTEN stability and activity
- Transcriptional Regulation by MECP2
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- Vulvar cancer
- Prostate cancer
- Endometrial Cancer
- Glioma
- Small cell lung cancer
- Breast cancer
- Hepatocellular carcinoma
- Malignant melanoma
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RB1 |
RB transcriptional corepressor 1 |
- Inhibition of replication initiation of damaged DNA by RB1/E2F1
- Inhibition of replication initiation of damaged DNA by RB1/E2F1
- APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
- Condensation of Prophase Chromosomes
- Formation of Senescence-Associated Heterochromatin Foci (SAHF)
- Oncogene Induced Senescence
- Phosphorylation of proteins involved in G1/S transition by active Cyclin E:Cdk2 complexes
- Cyclin E associated events during G1/S transition
- Cyclin D associated events in G1
- Cyclin A:Cdk2-associated events at S phase entry
- RUNX2 regulates osteoblast differentiation
- Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)
- Defective translocation of RB1 mutants to the nucleus
- Replication of the SARS-CoV-1 genome
- Aberrant regulation of mitotic exit in cancer due to RB1 defects
- Replication of the SARS-CoV-2 genome
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- Insulin human
- Insulin pork
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- Bladder cancer
- Small cell lung cancer
- Glioma
- Osteosarcoma
- Breast cancer
- Esophageal cancer
- Hepatocellular carcinoma
- Chronic myeloid leukemia (CML)
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CCND1 |
cyclin D1 |
- SCF(Skp2)-mediated degradation of p27/p21
- Pre-NOTCH Transcription and Translation
- RMTs methylate histone arginines
- Interleukin-4 and Interleukin-13 signaling
- Cyclin D associated events in G1
- Ubiquitin-dependent degradation of Cyclin D
- Ubiquitin-dependent degradation of Cyclin D
- PTK6 Regulates Cell Cycle
- Transcriptional Regulation by VENTX
- Transcriptional regulation by RUNX2
- Regulation of RUNX1 Expression and Activity
- RUNX3 regulates WNT signaling
- RUNX3 regulates p14-ARF
- Estrogen-dependent gene expression
- Estrogen-dependent nuclear events downstream of ESR-membrane signaling
- Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)
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- Acetylsalicylic acid
- Arsenic trioxide
- Encorafenib
- Bryostatin 1
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- Hairy-cell leukemia
- von Hippel-Lindau syndrome
- Esophageal cancer
- Oral cancer
- Multiple myeloma
- Laryngeal cancer
- Breast cancer
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CTNNB1 |
catenin beta 1 |
- Degradation of beta-catenin by the destruction complex
- Beta-catenin phosphorylation cascade
- TCF dependent signaling in response to WNT
- Formation of the beta-catenin:TCF transactivating complex
- Formation of the beta-catenin:TCF transactivating complex
- LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production
- Apoptotic cleavage of cell adhesion proteins
- Deactivation of the beta-catenin transactivating complex
- Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
- Ca2+ pathway
- Adherens junctions interactions
- Binding of TCF/LEF:CTNNB1 to target gene promoters
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- VEGFR2 mediated vascular permeability
- Myogenesis
- Myogenesis
- 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
- RHO GTPases activate IQGAPs
- Transcriptional Regulation by VENTX
- InlA-mediated entry of Listeria monocytogenes into host cells
- RUNX3 regulates WNT signaling
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- Gastric cancer
- Colorectal cancer
- Endometrial Cancer
- Pilomatricoma; Epithelioma calcificans of Malherbe
- Thyroid cancer
- Hepatocellular carcinoma
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MDM2 |
MDM2 proto-oncogene |
- AKT phosphorylates targets in the cytosol
- Oxidative Stress Induced Senescence
- Oncogene Induced Senescence
- SUMOylation of transcription factors
- SUMOylation of ubiquitinylation proteins
- Trafficking of AMPA receptors
- Constitutive Signaling by AKT1 E17K in Cancer
- Ub-specific processing proteases
- Regulation of TP53 Activity through Phosphorylation
- Regulation of TP53 Degradation
- Regulation of TP53 Activity through Methylation
- Stabilization of p53
- Regulation of RUNX3 expression and activity
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- Zinc
- Cis-[4,5-Bis-(4-Bromophenyl)-2-(2-Ethoxy-4-Methoxyphenyl)-4,5-Dihydroimidazol-1-Yl]-[4-(2-Hydroxyethyl)Piperazin-1-Yl]Methanone
- Cis-[4,5-Bis-(4-Chlorophenyl)-2-(2-Isopropoxy-4-Methoxyphenyl)-4,5-Dihyd Roimidazol-1-Yl]-Piperazin-1-Yl-Methanone
- Zinc acetate
- Zinc chloride
- Zinc sulfate, unspecified form
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- Choriocarcinoma
- Osteosarcoma
- Glioma
- Penile cancer
- Alveolar rhabdomyosarcoma
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FLNA |
filamin A |
- Platelet degranulation
- GP1b-IX-V activation signalling
- Cell-extracellular matrix interactions
- RHO GTPases activate PAKs
- OAS antiviral response
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- Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS)
- Fronto-Otopalatodigital Osteodysplasia, including: Otopalatodigital syndrome, type I; Otopalatodigital syndrome, type II; Melnick-Needles syndrome; Frontometaphyseal dysplasia
- Periventricular nodular heterotopia (PVNH)
- FG syndrome (FGS); Opitz-Kaveggia syndrome
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RUNX1 |
RUNX family transcription factor 1 |
- Pre-NOTCH Transcription and Translation
- Organic cation transport
- RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)
- RUNX1 regulates estrogen receptor mediated transcription
- Regulation of RUNX1 Expression and Activity
- Regulation of RUNX1 Expression and Activity
- RUNX1 regulates expression of components of tight junctions
- 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
- RUNX1 regulates transcription of genes involved in differentiation of keratinocytes
- RUNX1 regulates transcription of genes involved in differentiation of keratinocytes
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- RUNX1 regulates transcription of genes involved in BCR signaling
- RUNX1 regulates transcription of genes involved in differentiation of myeloid cells
- RUNX1 regulates transcription of genes involved in interleukin signaling
- RUNX1 regulates transcription of genes involved in WNT signaling
- RUNX2 regulates genes involved in differentiation of myeloid cells
- RUNX3 regulates p14-ARF
- Estrogen-dependent gene expression
- Transcriptional regulation of granulopoiesis
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- Chronic myeloid leukemia (CML)
- Thrombocytopenia (THC); Familial platelet disorder with associated myeloid malignancy (FPDMM)
- Acute myeloid leukemia (AML)
- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
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SMAD4 |
SMAD family member 4 |
- Signaling by NODAL
- Signaling by Activin
- Signaling by BMP
- 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
- SMAD4 MH2 Domain Mutants in Cancer
- SMAD2/3 MH2 Domain Mutants in Cancer
- Transcriptional regulation of pluripotent stem cells
- Ub-specific processing proteases
- RUNX2 regulates bone development
- RUNX3 regulates CDKN1A transcription
- RUNX3 regulates BCL2L11 (BIM) transcription
- 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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- Colorectal cancer
- Hereditary hemorrhagic telangiectasia (HHT)
- Pancreatic cancer
- Juvenile polyposis syndrome
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DCC |
DCC netrin 1 receptor |
- Netrin-1 signaling
- Netrin-1 signaling
- DSCAM interactions
- DCC mediated attractive signaling
- DCC mediated attractive signaling
- Netrin mediated repulsion signals
- Caspase activation via Dependence Receptors in the absence of ligand
- Role of second messengers in netrin-1 signaling
- Regulation of commissural axon pathfinding by SLIT and ROBO
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- Colorectal cancer
- Gastric cancer
- Cancer of the anal canal
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VHL |
von Hippel-Lindau tumor suppressor |
- Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
- Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
- SUMOylation of ubiquitinylation proteins
- Neddylation
- Replication of the SARS-CoV-1 genome
- Replication of the SARS-CoV-2 genome
- RHOBTB3 ATPase cycle
- Antigen processing: Ubiquitination & Proteasome degradation
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- Renal cell carcinoma
- von Hippel-Lindau syndrome
- Congenital polycythemia; Familial erythrocytosis (ECYT)
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ABL1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
- Regulation of actin dynamics for phagocytic cup formation
- Role of ABL in ROBO-SLIT signaling
- Role of ABL in ROBO-SLIT signaling
- Myogenesis
- Myogenesis
- RHO GTPases Activate WASPs and WAVEs
- HDR through Single Strand Annealing (SSA)
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Cyclin D associated events in G1
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- RUNX2 regulates osteoblast differentiation
- FCGR3A-mediated phagocytosis
- Factors involved in megakaryocyte development and platelet production
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- ATP
- Imatinib
- Dasatinib
- N-[4-Methyl-3-[[4-(3-Pyridinyl)-2-Pyrimidinyl]Amino]Phenyl]-3-Pyridinecarboxamide
- Nilotinib
- XL228
- Bosutinib
- 2-{[(6-OXO-1,6-DIHYDROPYRIDIN-3-YL)METHYL]AMINO}-N-[4-PROPYL-3-(TRIFLUOROMETHYL)PHENYL]BENZAMIDE
- 1-[4-(PYRIDIN-4-YLOXY)PHENYL]-3-[3-(TRIFLUOROMETHYL)PHENYL]UREA
- Myristic acid
- PD-166326
- 5-[3-(2-METHOXYPHENYL)-1H-PYRROLO[2,3-B]PYRIDIN-5-YL]-N,N-DIMETHYLPYRIDINE-3-CARBOXAMIDE
- 2-amino-5-[3-(1-ethyl-1H-pyrazol-5-yl)-1H-pyrrolo[2,3-b]pyridin-5-yl]-N,N-dimethylbenzamide
- Regorafenib
- Ponatinib
- Fostamatinib
- Brigatinib
- Radotinib
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- Chronic myeloid leukemia (CML)
- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
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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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BTK |
Bruton tyrosine kinase |
- ER-Phagosome pathway
- MyD88:MAL(TIRAP) cascade initiated on plasma membrane
- Regulation of actin dynamics for phagocytic cup formation
- DAP12 signaling
- FCERI mediated Ca+2 mobilization
- FCERI mediated Ca+2 mobilization
- G alpha (q) signalling events
- G alpha (12/13) signalling events
- MyD88 deficiency (TLR2/4)
- IRAK4 deficiency (TLR2/4)
- RHO GTPases Activate WASPs and WAVEs
- G beta:gamma signalling through BTK
- FCGR3A-mediated phagocytosis
- Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
- Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
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- Dasatinib
- Inositol 1,3,4,5-Tetrakisphosphate
- XL418
- Ibrutinib
- Acalabrutinib
- Fostamatinib
- Zanubrutinib
- Abivertinib
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- Agammaglobulinemias, including the following six diseases: X-linked agammaglobulinemia (Bruton's agammaglobulinemia, XLA); IgM heavy chain gene deletions; Ig-alpha defect; Autosomal recessive agammaglobulinaemia; B cell-linker protein (BLNK) deficiency; Leucine-rich repeat-containing 8
- Pituitary Dwarfism (PD); Isolated growth hormone deficiency (IGHD); Short Stature and Pituitary Defects (SSPD); Insulin-like growth factor 1 deficiency (IGFD)
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CCNE1 |
cyclin E1 |
- G0 and Early G1
- SCF(Skp2)-mediated degradation of p27/p21
- DNA Damage/Telomere Stress Induced Senescence
- Association of TriC/CCT with target proteins during biosynthesis
- TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest
- CDK-mediated phosphorylation and removal of Cdc6
- Phosphorylation of proteins involved in G1/S transition by active Cyclin E:Cdk2 complexes
- Cyclin E associated events during G1/S transition
- G1/S-Specific Transcription
- Cyclin D associated events in G1
- p53-Dependent G1 DNA Damage Response
- PTK6 Regulates Cell Cycle
- Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)
- RHOBTB3 ATPase cycle
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- Laryngeal cancer
- Gastric cancer
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GSN |
gelsolin |
- Caspase-mediated cleavage of cytoskeletal proteins
- Neutrophil degranulation
- Amyloid fiber formation
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- Zinc
- Latrunculin A
- Copper
- Zinc acetate
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- Lattice corneal dystrophies (LCD), including: Biber-Haab-Dimmer dystrophy; Familial amyloid polyneuropathy type IV; Meretoja syndrome
- Familial amyloidosis
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NR0B1 |
nuclear receptor subfamily 0 group B member 1 |
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- Dexamethasone
- Dexamethasone acetate
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- Glycerol kinase deficiency (GKD), including: Hyperglycerolemia; Chromosome Xp21 deletion syndrome; Adrenal hypoplasia, congenital (AHC); Duchenne muscular dystrophy (DMD)
- 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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NR3C2 |
nuclear receptor subfamily 3 group C member 2 |
- HSP90 chaperone cycle for steroid hormone receptors (SHR)
- SUMOylation of intracellular receptors
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- Nimodipine
- Progesterone
- Spironolactone
- Fluticasone propionate
- Testosterone
- Fludrocortisone
- Eplerenone
- Clobetasol propionate
- Felodipine
- Desoxycorticosterone pivalate
- Drospirenone
- Stanolone
- Metribolone
- Aldosterone
- Corticosterone
- Desoxycorticosterone acetate
- Fluticasone furoate
- Fluticasone
- Testosterone cypionate
- Testosterone enanthate
- Testosterone undecanoate
- Stanolone acetate
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- Hyperkalemic distal renal tubular acidosis (RTA type 4), including the following two diseases: Pseudohypoaldosteronism type I (PHA1); Pseudohypoaldosteronism type II (Gordon's syndrome)
- Hypertension exacerbated in pregnancy
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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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NSD1 |
nuclear receptor binding SET domain protein 1 |
- PKMTs methylate histone lysines
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- Beckwith-Wiedemann syndrome
- Sotos syndrome and Weaver syndrome
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