Novel |
KCNQ1 |
potassium voltage-gated channel subfamily Q member 1 |
- Voltage gated Potassium channels
- Phase 3 - rapid repolarisation
- Phase 2 - plateau phase
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- Enflurane
- Promethazine
- Miconazole
- Bepridil
- Dronedarone
- Azimilide
- ICA-105665
- Isavuconazole
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- Type II diabetes mellitus
- Long QT syndrome, including: Romano-Ward syndrome; Jervell and Lange-Nielsen syndrome (JLNS)
- Atrial fibrillation
- Short QT syndrome
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Novel |
IGF2 |
insulin like growth factor 2 |
- Platelet degranulation
- Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
- IRS-related events triggered by IGF1R
- SHC-related events triggered by IGF1R
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
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- Beckwith-Wiedemann syndrome
- Russell-Silver syndrome; Silver-Russell syndrome
- Adrenal carcinoma
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Novel |
INS |
insulin |
- Regulation of gene expression in beta cells
- Insulin processing
- Insulin processing
- Synthesis, secretion, and deacylation of Ghrelin
- Regulation of insulin secretion
- COPI-mediated anterograde transport
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- IRS activation
- Signal attenuation
- Insulin receptor signalling cascade
- Signaling by Insulin receptor
- Insulin receptor recycling
- FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
- FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
- Amyloid fiber formation
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- Zinc
- M-Cresol
- Myristic acid
- Zinc acetate
- Zinc chloride
- Zinc sulfate, unspecified form
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- Maturity onset diabetes of the young (MODY)
- Type I diabetes mellitus
- Permanent neonatal diabetes mellitus (PNDM)
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Novel |
C6orf62 |
chromosome 6 open reading frame 62 |
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Novel |
CCL4 |
C-C motif chemokine ligand 4 |
- Chemokine receptors bind chemokines
- G alpha (i) signalling events
- Interleukin-10 signaling
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Novel |
HBG1 |
hemoglobin subunit gamma 1 |
- Factors involved in megakaryocyte development and platelet production
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Novel |
ZFP36L2 |
ZFP36 ring finger protein like 2 |
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CDKN2A |
cyclin dependent kinase inhibitor 2A |
- Oxidative Stress Induced Senescence
- Senescence-Associated Secretory Phenotype (SASP)
- Oncogene Induced Senescence
- Cyclin D associated events in G1
- Transcriptional Regulation by VENTX
- Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4
- Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6
- Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4
- Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6
- Apoptotic factor-mediated response
- Oxidative Stress Induced Senescence
- Oncogene Induced Senescence
- SUMOylation of DNA damage response and repair proteins
- SUMOylation of transcription factors
- Regulation of TP53 Degradation
- Stabilization of p53
- Regulation of RUNX3 expression and activity
- Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function
- Evasion of Oncogene Induced Senescence Due to p14ARF Defects
- Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects
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- Bladder cancer
- Type II diabetes mellitus
- Pancreatic cancer
- Burkitt lymphoma
- Adult T-cell leukemia
- Malignant pleural mesothelioma
- Non-small cell lung cancer
- Chronic myeloid leukemia (CML)
- Oral cancer
- Penile cancer
- Nasopharyngeal cancer
- Glioma
- Osteosarcoma
- Squamous cell carcinoma
- Cholangiocarcinoma
- Gallbladder cancer
- Malignant islet cell carcinoma
- Laryngeal cancer
- Hepatocellular carcinoma
- Esophageal cancer
- Malignant melanoma
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KRAS |
KRAS proto-oncogene, GTPase |
- Signaling by moderate kinase activity BRAF mutants
- Paradoxical activation of RAF signaling by kinase inactive BRAF
- RUNX3 regulates p14-ARF
- RAS processing
- RAS GTPase cycle mutants
- Signaling downstream of RAS mutants
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- [(3,7,11-TRIMETHYL-DODECA-2,6,10-TRIENYLOXYCARBAMOYL)-METHYL]-PHOSPHONIC ACID
- Farnesyl diphosphate
- MRTX849
- AMG-510
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- Craniosynostosis, including: Pfeiffer syndrome; Apert syndrome; Crouzon syndrome; Jackson-Weiss syndrome; Beare-Stevenson syndrome; Muenke craniosynostosis; Saethre-Chotzen syndrome; Craniosynostosis Boston type; Antley-Bixler syndrome; Carpenter syndrome; Craniofrontonasal dysplasia; Noonan syndrome; Baller-Gerold syndrome
- Pancreatic cancer
- Gastric cancer
- Colorectal cancer
- Non-small cell lung cancer
- 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)
- Oral cancer
- Acute myeloid leukemia (AML)
- Endometrial Cancer
- Multiple myeloma
- Squamous cell carcinoma
- Kaposi's sarcoma
- Cholangiocarcinoma
- Thyroid cancer
- Cervical cancer
- Hepatocellular carcinoma
- Ovarian cancer
- Gallbladder cancer
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ERBB2 |
erb-b2 receptor tyrosine kinase 2 |
- Signaling by ERBB2
- SHC1 events in ERBB2 signaling
- SHC1 events in ERBB2 signaling
- PLCG1 events in ERBB2 signaling
- PIP3 activates AKT signaling
- GRB7 events in ERBB2 signaling
- Downregulation of ERBB2:ERBB3 signaling
- GRB2 events in ERBB2 signaling
- GRB2 events in ERBB2 signaling
- PI3K events in ERBB2 signaling
- Constitutive Signaling by Aberrant PI3K in Cancer
- Sema4D induced cell migration and growth-cone collapse
- RAF/MAP kinase cascade
- ERBB2 Regulates Cell Motility
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- ERBB2 Activates PTK6 Signaling
- Downregulation of ERBB2 signaling
- TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
- Constitutive Signaling by Overexpressed ERBB2
- Drug-mediated inhibition of ERBB2 signaling
- Signaling by ERBB2 KD Mutants
- Resistance of ERBB2 KD mutants to trastuzumab
- Resistance of ERBB2 KD mutants to sapitinib
- Resistance of ERBB2 KD mutants to tesevatinib
- Resistance of ERBB2 KD mutants to neratinib
- Resistance of ERBB2 KD mutants to osimertinib
- Resistance of ERBB2 KD mutants to afatinib
- Resistance of ERBB2 KD mutants to AEE788
- Resistance of ERBB2 KD mutants to lapatinib
- Signaling by ERBB2 ECD mutants
- Signaling by ERBB2 TMD/JMD mutants
- Drug resistance in ERBB2 TMD/JMD mutants
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- Trastuzumab
- Lapatinib
- IGN311
- Trastuzumab emtansine
- Varlitinib
- AV-412
- Pertuzumab
- Afatinib
- Tucatinib
- Tesevatinib
- Fostamatinib
- Brigatinib
- Margetuximab
- Zanubrutinib
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- Choriocarcinoma
- Pancreatic cancer
- Gastric cancer
- Bladder cancer
- Endometrial Cancer
- Ovarian cancer
- Cholangiocarcinoma
- Breast cancer
- Cervical cancer
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NRAS |
NRAS proto-oncogene, GTPase |
- SOS-mediated signalling
- Activation of RAS in B cells
- Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
- SHC1 events in ERBB2 signaling
- SHC1 events in ERBB4 signaling
- Signaling by SCF-KIT
- Signalling to RAS
- p38MAPK events
- p38MAPK events
- GRB2 events in EGFR signaling
- SHC1 events in EGFR signaling
- Downstream signal transduction
- GRB2 events in ERBB2 signaling
- GRB2 events in ERBB2 signaling
- Tie2 Signaling
- EGFR Transactivation by Gastrin
- DAP12 signaling
- SHC-related events triggered by IGF1R
- FCERI mediated MAPK activation
- NCAM signaling for neurite out-growth
- Ras activation upon Ca2+ influx through NMDA receptor
- VEGFR2 mediated cell proliferation
- CD209 (DC-SIGN) signaling
- Constitutive Signaling by EGFRvIII
- SHC-mediated cascade:FGFR1
- FRS-mediated FGFR1 signaling
- SHC-mediated cascade:FGFR2
- FRS-mediated FGFR2 signaling
- SHC-mediated cascade:FGFR3
- FRS-mediated FGFR3 signaling
- FRS-mediated FGFR4 signaling
- SHC-mediated cascade:FGFR4
- Signaling by FGFR2 in disease
- Signaling by FGFR4 in disease
- Signaling by FGFR1 in disease
- Regulation of RAS by GAPs
- RAF activation
- RAF/MAP kinase cascade
- MAP2K and MAPK activation
- Negative regulation of MAPK pathway
- Neutrophil degranulation
- Signaling by moderate kinase activity BRAF mutants
- Signaling by high-kinase activity BRAF mutants
- Signaling by BRAF and RAF fusions
- RAS signaling downstream of NF1 loss-of-function variants
- Paradoxical activation of RAF signaling by kinase inactive BRAF
- Insulin receptor signalling cascade
- PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
- MET activates RAS signaling
- Signaling by FGFR3 fusions in cancer
- Signaling by FGFR3 point mutants in cancer
- Activated NTRK2 signals through RAS
- Erythropoietin activates RAS
- Activated NTRK2 signals through FRS2 and FRS3
- Activated NTRK3 signals through RAS
- FLT3 Signaling
- Constitutive Signaling by Overexpressed ERBB2
- Estrogen-stimulated signaling through PRKCZ
- RAS processing
- RAS GTPase cycle mutants
- Signaling downstream of RAS mutants
- Signaling by RAF1 mutants
- Signaling by ERBB2 KD Mutants
- Signaling by ERBB2 ECD mutants
- Signaling by ERBB2 TMD/JMD mutants
- 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
- Signaling by FLT3 fusion proteins
- Signaling by FLT3 ITD and TKD 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)
- Oral cancer
- Acute myeloid leukemia (AML)
- Multiple myeloma
- Adrenal carcinoma
- Thyroid cancer
- Hepatocellular carcinoma
- Autoimmune lymphoproliferative syndromes (ALPS), including the following five diseases: CD95 (Fas) defect, ALPS type 1a; CD95L (Fas ligand) defect, ALPS type 1b; Caspase 10 defect, ALPS type 2a; Caspase 8 defext, ALPS type 2b; Activaing N-Ras defect, N-Ras ALPS
- Malignant melanoma
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BCL2 |
BCL2 apoptosis regulator |
- Activation of BAD and translocation to mitochondria
- BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
- Interleukin-4 and Interleukin-13 signaling
- The NLRP1 inflammasome
- Estrogen-dependent gene expression
- Estrogen-dependent nuclear events downstream of ESR-membrane signaling
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- Ibuprofen
- Paclitaxel
- Docetaxel
- Rasagiline
- Paclitaxel docosahexaenoic acid
- Apoptone
- Glycine betaine
- Eribulin
- Dexibuprofen
- Isosorbide
- Venetoclax
- Obatoclax
- Navitoclax
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- Choriocarcinoma
- Gastric cancer
- Chronic lymphocytic leukemia (CLL)
- Small cell lung cancer
- Kaposi's sarcoma
- Nasopharyngeal cancer
- Cervical cancer
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CDH1 |
cadherin 1 |
- Degradation of the extracellular matrix
- Degradation of the extracellular matrix
- Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
- Integrin cell surface interactions
- Apoptotic cleavage of cell adhesion proteins
- Adherens junctions interactions
- RHO GTPases activate IQGAPs
- InlA-mediated entry of Listeria monocytogenes into host cells
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- Gastric cancer
- Penile cancer
- Nasopharyngeal cancer
- Breast cancer
- Hepatocellular carcinoma
- Thyroid cancer
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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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BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
- Spry regulation of FGF signaling
- Frs2-mediated activation
- Frs2-mediated activation
- ARMS-mediated activation
- Signalling to p38 via RIT and RIN
- RAF activation
- MAP2K and MAPK activation
- Negative feedback regulation of MAPK pathway
- Negative 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 RAF1 mutants
- Signaling by MRAS-complex mutants
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- Sorafenib
- XL281
- RAF-265
- PLX-4720
- N-{2,4-difluoro-3-[(5-pyridin-3-yl-1H-pyrrolo[2,3-b]pyridin-3-yl)carbonyl]phenyl}ethanesulfonamide
- (1E)-5-(1-piperidin-4-yl-3-pyridin-4-yl-1H-pyrazol-4-yl)-2,3-dihydro-1H-inden-1-one oxime
- Vemurafenib
- Regorafenib
- Dabrafenib
- Encorafenib
- Fostamatinib
- Ripretinib
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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)
- Thyroid cancer
- Malignant melanoma
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MSH2 |
mutS homolog 2 |
- Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)
- Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)
- Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)
- Defective Mismatch Repair Associated With MSH3
- Defective Mismatch Repair Associated With MSH2
- Defective Mismatch Repair Associated With MSH6
- TP53 Regulates Transcription of DNA Repair Genes
|
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- Colorectal cancer
- Mismatch repair deficiency, including: Hereditary non-polyposis colorectal cancer (HNPCC); Lynch syndrome; Muir-Torre syndrome; Turcot syndrome
- Ovarian cancer
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RASSF1 |
Ras association domain family member 1 |
|
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- Non-small cell lung cancer
- Bladder cancer
- Nasopharyngeal cancer
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BMPR1A |
bone morphogenetic protein receptor type 1A |
|
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- Hereditary mixed polyposis syndrome
- Juvenile polyposis syndrome
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INSR |
insulin receptor |
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- IRS activation
- Signal attenuation
- Insulin receptor signalling cascade
- Signaling by Insulin receptor
- Insulin receptor recycling
|
- Insulin human
- Insulin lispro
- Insulin glargine
- Insulin pork
- Mecasermin
- Insulin aspart
- Insulin detemir
- Insulin glulisine
- Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate
- NN344
- AT1391
- [4-({5-(AMINOCARBONYL)-4-[(3-METHYLPHENYL)AMINO]PYRIMIDIN-2-YL}AMINO)PHENYL]ACETIC ACID
- Chromic chloride
- Insulin degludec
- Fostamatinib
- Brigatinib
- Mecasermin rinfabate
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- Rabson-Mendenhall syndrome
- Leprechaunism ; Donohue syndrome
|
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ITGB3 |
integrin subunit beta 3 |
- Platelet degranulation
- Elastic fibre formation
- PECAM1 interactions
- Molecules associated with elastic fibres
- Integrin cell surface interactions
- Integrin cell surface interactions
- Syndecan interactions
- Syndecan interactions
- ECM proteoglycans
- Integrin signaling
- GRB2:SOS provides linkage to MAPK signaling for Integrins
- p130Cas linkage to MAPK signaling for integrins
- VEGFA-VEGFR2 Pathway
- Signal transduction by L1
- MAP2K and MAPK 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 RAF1 mutants
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- Abciximab
- Eptifibatide
- Antithymocyte immunoglobulin (rabbit)
- Levothyroxine
- Tirofiban
- Resveratrol
- Lefradafiban
- LM-609
- Fradafiban
- Ferric maltol
|
- Glanzmann thrombasthenia
- Allograft rejection
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