| Novel |
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
- Signaling by CSF1 (M-CSF) in myeloid cells
- 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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| Novel |
CFP
|
complement factor properdin |
- Alternative complement activation
- Activation of C3 and C5
- Defective B3GALTL causes PpS
- O-glycosylation of TSR domain-containing proteins
- Neutrophil degranulation
- Regulation of Complement cascade
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- Alternative complement pathway component defects, including the following four diseases: Factor B deficiency; Factor D deficiency; Factor H deficiency; Properdin deficiency
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| Novel |
DPAGT1
|
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
- Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
- Defective DPAGT1 causes CDG-1j, CMSTA2
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- Congenital disorders of glycosylation (CDG) type I
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| Novel |
EPHA4
|
EPH receptor A4 |
- EPH-Ephrin signaling
- EPH-Ephrin signaling
- EPHA-mediated growth cone collapse
- EPHA-mediated growth cone collapse
- EPH-ephrin mediated repulsion of cells
- EPH-ephrin mediated repulsion of cells
- Somitogenesis
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| Novel |
HMBS
|
hydroxymethylbilane synthase |
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- Hepatic porphyria, including: Porphyria Cutanea Tarda (PCT); VHepatoerythropoietic porphyria; Acute Intermittent Porphyria (AIP); Variegate porphyria (VP); ALA-dehydratase deficiency porphyria (ALADP); Hereditary Coproporphyria (HCP)
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| Novel |
QPRT
|
quinolinate phosphoribosyltransferase |
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| Novel |
SLC37A4
|
solute carrier family 37 member 4 |
- Glycogen storage disease type Ib (SLC37A4)
- Gluconeogenesis
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- Glycogen storage diseases (GSD), including: von Gierke disease (GSD type Ia); Pompe disease (GSD type II); Cori disease, Forbe disease (GSD type III); Andersen disease (GSD type IV); McArdle disease (GSD type V); Hers disease (GSD type VI); Tarui disease (GSD type VII); Phosphorylase kinase deficiency (GSD type IX); Fanconi-Bickel syndrome (GSD type XI); Glycogen synthase deficiency (GSD type 0)
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| Novel |
SPIRE1
|
spire type actin nucleation factor 1 |
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APLP2
|
amyloid beta precursor like protein 2 |
- Platelet degranulation
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- Post-translational protein phosphorylation
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- Zinc
- Zinc acetate
- Zinc chloride
- Zinc sulfate, unspecified form
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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-dependent IKK and NF-kappa-B activation
- 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)
- Gantenerumab
- Aducanumab
- Zinc acetate
- Aluminium phosphate
- Aluminum acetate
- Zinc chloride
- Zinc sulfate, unspecified form
- Lecanemab
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ARID4B
|
AT-rich interaction domain 4B |
- HDACs deacetylate histones
- NoRC negatively regulates rRNA expression
- Potential therapeutics for SARS
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ARL6IP4
|
ARF like GTPase 6 interacting protein 4 |
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ATF2
|
activating transcription factor 2 |
- Transcriptional activation of mitochondrial biogenesis
- HATs acetylate histones
- Activation of the AP-1 family of transcription factors
- TP53 Regulates Transcription of DNA Repair Genes
- Regulation of PTEN gene transcription
- Regulation of PTEN gene transcription
- Estrogen-dependent gene expression
- NGF-stimulated transcription
- NGF-stimulated transcription
- Response of EIF2AK4 (GCN2) to amino acid deficiency
- Response of EIF2AK4 (GCN2) to amino acid deficiency
- Heme signaling
- Expression of BMAL (ARNTL), CLOCK, and NPAS2
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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
- Neddylation
- 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
- Defective homologous recombination repair (HRR) due to BRCA1 loss of function
- Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function
- Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function
- Impaired BRCA2 binding to RAD51
- Impaired BRCA2 binding to PALB2
- KEAP1-NFE2L2 pathway
- Regulation of MITF-M-dependent genes involved in DNA replication, damage repair and senescence
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- Ovarian cancer
- Breast cancer
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CAMK2A
|
calcium/calmodulin dependent protein kinase II alpha |
- CaMK IV-mediated phosphorylation of CREB
- HSF1-dependent transactivation
- Trafficking of AMPA receptors
- Ca2+ pathway
- Unblocking of NMDA receptors, glutamate binding and activation
- Unblocking of NMDA receptors, glutamate binding and activation
- Ras activation upon Ca2+ influx through NMDA receptor
- Phase 0 - rapid depolarisation
- Ion homeostasis
- RAF activation
- RAF/MAP kinase cascade
- Signaling by moderate kinase activity BRAF mutants
- Signaling by BRAF and RAF1 fusions
- Paradoxical activation of RAF signaling by kinase inactive BRAF
- Interferon gamma signaling
- Regulation of MECP2 expression and activity
- Ion transport by P-type ATPases
- Assembly and cell surface presentation of NMDA receptors
- Negative regulation of NMDA receptor-mediated neuronal transmission
- Long-term potentiation
- Signaling downstream of RAS mutants
- Signaling by RAF1 mutants
|
- Hexatantalum Dodecabromide
- 1,4-Dithiothreitol
- (2Z,3E)-2,3'-biindole-2',3(1H,1'H)-dione 3-{O-[(3R)-3,4-dihydroxybutyl]oxime}
- Fostamatinib
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CAMK2B
|
calcium/calmodulin dependent protein kinase II beta |
- CaMK IV-mediated phosphorylation of CREB
- HSF1-dependent transactivation
- Trafficking of AMPA receptors
- Unblocking of NMDA receptors, glutamate binding and activation
- Unblocking of NMDA receptors, glutamate binding and activation
- CREB1 phosphorylation through the activation of CaMKII/CaMKK/CaMKIV cascasde
- Ras activation upon Ca2+ influx through NMDA receptor
- Phase 0 - rapid depolarisation
- Ion homeostasis
- RAF activation
- RAF/MAP kinase cascade
- Signaling by moderate kinase activity BRAF mutants
- Signaling by BRAF and RAF1 fusions
- Paradoxical activation of RAF signaling by kinase inactive BRAF
- Interferon gamma signaling
- Regulation of MECP2 expression and activity
- Ion transport by P-type ATPases
- Assembly and cell surface presentation of NMDA receptors
- Negative regulation of NMDA receptor-mediated neuronal transmission
- Long-term potentiation
- Signaling downstream of RAS mutants
- Signaling by RAF1 mutants
|
- [4-({4-[(5-cyclopropyl-1H-pyrazol-3-yl)amino]-6-(methylamino)pyrimidin-2-yl}amino)phenyl]acetonitrile
- Fostamatinib
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|
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COP1
|
COP1 E3 ubiquitin ligase |
- Autodegradation of the E3 ubiquitin ligase COP1
- Neddylation
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|
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CREB1
|
cAMP responsive element binding protein 1 |
|
- Adenosine phosphate
- Naloxone
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|
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CREBBP
|
CREB binding lysine acetyltransferase |
- Regulation of gene expression by Hypoxia-inducible Factor
- BMAL1:CLOCK,NPAS2 activates circadian expression
- 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
- Transcriptional activation of mitochondrial biogenesis
- Activation of gene expression by SREBF (SREBP)
- 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
- Notch-HLH transcription pathway
- Transcriptional regulation of white adipocyte differentiation
- Transcriptional regulation of white adipocyte differentiation
- SUMOylation of transcription cofactors
- Regulation of lipid metabolism by PPARalpha
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- CD209 (DC-SIGN) signaling
- TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
- Activation of the TFAP2 (AP-2) family of transcription factors
- RUNX1 regulates transcription of genes involved in differentiation of myeloid cells
- RUNX3 regulates NOTCH signaling
- RUNX3 regulates NOTCH signaling
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH4 Intracellular Domain Regulates Transcription
- Estrogen-dependent gene expression
- TRAF3-dependent IRF activation pathway
- TRAF6 mediated IRF7 activation
- FOXO-mediated transcription of cell death genes
- Regulation of FOXO transcriptional activity by acetylation
- Regulation of FOXO transcriptional activity by acetylation
- SARS-CoV-2 activates/modulates innate and adaptive immune responses
- Cytoprotection by HMOX1
- Heme signaling
- Nuclear events mediated by NFE2L2
- NPAS4 regulates expression of target genes
- Formation of paraxial mesoderm
- NFE2L2 regulating inflammation associated genes
- NFE2L2 regulating anti-oxidant/detoxification enzymes
- NFE2L2 regulates pentose phosphate pathway genes
- NFE2L2 regulating tumorigenic genes
- NFE2L2 regulating MDR associated enzymes
- NFE2L2 regulating ER-stress associated genes
- Regulation of NFE2L2 gene expression
- Regulation of NFE2L2 gene expression
- Zygotic genome activation (ZGA)
- Evasion by RSV of host interferon responses
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
- Transcriptional and post-translational regulation of MITF-M expression and activity
- Transcriptional and post-translational regulation of MITF-M expression and activity
- Regulation of PD-L1(CD274) transcription
- Expression of BMAL (ARNTL), CLOCK, and NPAS2
- Phosphorylated BMAL1:CLOCK (ARNTL:CLOCK) activates expression of core clock genes
- Phosphorylation of CLOCK, acetylation of BMAL1 (ARNTL) at target gene promoters
- The CRY:PER:kinase complex represses transactivation by the BMAL:CLOCK (ARNTL:CLOCK) complex
- RORA,B,C and NR1D1 (REV-ERBA) regulate gene expression
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- Colforsin
- 9-ACETYL-2,3,4,9-TETRAHYDRO-1H-CARBAZOL-1-ONE
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- Rubinstein-Taybi syndrome
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CYBC1
|
cytochrome b-245 chaperone 1 |
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