DACH1 and TERT |
dachshund family transcription factor 1 |
telomerase reverse transcriptase |
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- Telomere Extension By Telomerase
- Formation of the beta-catenin:TCF transactivating complex
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- Zidovudine
- Grn163l
- Tertomotide
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- Cri du chat syndrome; Cat cry syndrome; Chromosme 5p deletion syndrome
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DACH1 and SMAD1 |
dachshund family transcription factor 1 |
SMAD family member 1 |
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- Signaling by BMP
- Ub-specific processing proteases
- RUNX2 regulates bone development
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DACH1 and SMAD3 |
dachshund family transcription factor 1 |
SMAD family member 3 |
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- 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
- Ub-specific processing proteases
- RUNX3 regulates CDKN1A transcription
- RUNX3 regulates BCL2L11 (BIM) transcription
- Interleukin-37 signaling
- NOTCH4 Intracellular Domain Regulates 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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DACH1 and SMAD4 |
dachshund family transcription factor 1 |
SMAD family member 4 |
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- 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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CD55 and GPLD1 |
CD55 molecule (Cromer blood group) |
glycosylphosphatidylinositol specific phospholipase D1 |
- Class B/2 (Secretin family receptors)
- Neutrophil degranulation
- COPI-mediated anterograde transport
- Regulation of Complement cascade
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- Post-translational modification: synthesis of GPI-anchored proteins
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- Complement regulatory protein defects, including the following six diseases: C1 inhibitor deficiency (hereditary angioedema); C4 binding protein alpha deficiency; C4 binding protein beta deficiency; Factor I deficiency; Decay-accelerating factor (CD55) deficiency; CD59 deficiency
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CD55 and LCK |
CD55 molecule (Cromer blood group) |
LCK proto-oncogene, Src family tyrosine kinase |
- Class B/2 (Secretin family receptors)
- Neutrophil degranulation
- COPI-mediated anterograde transport
- Regulation of Complement cascade
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- GPVI-mediated activation cascade
- PIP3 activates AKT signaling
- Signaling by SCF-KIT
- Signaling by SCF-KIT
- Regulation of KIT signaling
- Nef and signal transduction
- Nef Mediated CD4 Down-regulation
- Downstream TCR signaling
- Phosphorylation of CD3 and TCR zeta chains
- Translocation of ZAP-70 to Immunological synapse
- Generation of second messenger molecules
- PECAM1 interactions
- Constitutive Signaling by Aberrant PI3K in Cancer
- DAP12 signaling
- DAP12 signaling
- CD28 co-stimulation
- CD28 dependent PI3K/Akt signaling
- CD28 dependent Vav1 pathway
- CTLA4 inhibitory signaling
- PD-1 signaling
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- Interleukin-2 signaling
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- Dasatinib
- {4-[2-Acetylamino-2-(3-Carbamoyl-2-Cyclohexylmethoxy-6,7,8,9-Tetrahydro-5h-Benzocyclohepten-5ylcarbamoyl)-Ethyl]-2-Phosphono-Phenyl}-Phosphonic Acid
- Staurosporine
- 1-Tert-Butyl-3-(4-Chloro-Phenyl)-1h-Pyrazolo[3,4-D]Pyrimidin-4-Ylamine
- (4-{2-Acetylamino-2-[1-(3-Carbamoyl-4-Cyclohexylmethoxy-Phenyl)-Ethylcarbamoyl}-Ethyl}-2-Phosphono-Phenoxy)-Acetic Acid
- Phosphoaminophosphonic Acid-Adenylate Ester
- 3-(2-AMINOQUINAZOLIN-6-YL)-4-METHYL-N-[3-(TRIFLUOROMETHYL)PHENYL]BENZAMIDE
- 2,3-DIPHENYL-N-(2-PIPERAZIN-1-YLETHYL)FURO[2,3-B]PYRIDIN-4-AMINE
- 5,6-DIPHENYL-N-(2-PIPERAZIN-1-YLETHYL)FURO[2,3-D]PYRIMIDIN-4-AMINE
- N-(2-chlorophenyl)-5-phenylimidazo[1,5-a]pyrazin-8-amine
- N-(2,6-dimethylphenyl)-5-phenylimidazo[1,5-a]pyrazin-8-amine
- N-(2-chloro-6-methylphenyl)-8-[(3S)-3-methylpiperazin-1-yl]imidazo[1,5-a]quinoxalin-4-amine
- Ponatinib
- Nintedanib
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- Complement regulatory protein defects, including the following six diseases: C1 inhibitor deficiency (hereditary angioedema); C4 binding protein alpha deficiency; C4 binding protein beta deficiency; Factor I deficiency; Decay-accelerating factor (CD55) deficiency; CD59 deficiency
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- Combined immunodeficiencies (CIDs), including the following nine diseases: X-linked hyper IgM syndrome; CD40 deficiency hyper IgM syndrome; Purine nucleoside phosphorylase (PNP) deficiency; Omenn syndrome; MHC deficiency (HLA-class I); MHC deficiency (HLA-class II); Zap-70 deficiency; p56 Lck deficiency; CD8 deficiency
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CD55 and FYN |
CD55 molecule (Cromer blood group) |
FYN proto-oncogene, Src family tyrosine kinase |
- Class B/2 (Secretin family receptors)
- Neutrophil degranulation
- COPI-mediated anterograde transport
- Regulation of Complement cascade
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- GPVI-mediated activation cascade
- Signaling by ERBB2
- PIP3 activates AKT signaling
- Signaling by SCF-KIT
- Signaling by SCF-KIT
- Regulation of KIT signaling
- Nef and signal transduction
- Cell surface interactions at the vascular wall
- FCGR activation
- PECAM1 interactions
- Constitutive Signaling by Aberrant PI3K in Cancer
- DAP12 signaling
- DAP12 signaling
- EPH-Ephrin signaling
- Role of LAT2/NTAL/LAB on calcium mobilization
- Nephrin family interactions
- Nephrin family interactions
- NCAM signaling for neurite out-growth
- NCAM signaling for neurite out-growth
- CD28 co-stimulation
- CD28 dependent PI3K/Akt signaling
- CD28 dependent Vav1 pathway
- CTLA4 inhibitory signaling
- EPHB-mediated forward signaling
- EPHB-mediated forward signaling
- EPHA-mediated growth cone collapse
- EPHA-mediated growth cone collapse
- Ephrin signaling
- Ephrin signaling
- EPH-ephrin mediated repulsion of cells
- Sema3A PAK dependent Axon repulsion
- SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion
- SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion
- CRMPs in Sema3A signaling
- CRMPs in Sema3A signaling
- VEGFA-VEGFR2 Pathway
- Dectin-2 family
- CD209 (DC-SIGN) signaling
- RAF/MAP kinase cascade
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- Platelet Adhesion to exposed collagen
- Reelin signalling pathway
- Regulation of signaling by CBL
- Regulation of signaling by CBL
- FLT3 Signaling
- FCGR3A-mediated IL10 synthesis
- FCGR3A-mediated phagocytosis
- Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
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- Dasatinib
- 1-Methoxy-2-[2-(2-Methoxy-Ethoxy]-Ethane
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- Complement regulatory protein defects, including the following six diseases: C1 inhibitor deficiency (hereditary angioedema); C4 binding protein alpha deficiency; C4 binding protein beta deficiency; Factor I deficiency; Decay-accelerating factor (CD55) deficiency; CD59 deficiency
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DAG1 and LAMA2 |
dystroglycan 1 |
laminin subunit alpha 2 |
- Non-integrin membrane-ECM interactions
- ECM proteoglycans
- ECM proteoglycans
- Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3
- Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2
- Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1
- O-linked glycosylation
- Regulation of expression of SLITs and ROBOs
- EGR2 and SOX10-mediated initiation of Schwann cell myelination
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- Laminin interactions
- Laminin interactions
- Non-integrin membrane-ECM interactions
- ECM proteoglycans
- MET activates PTK2 signaling
- EGR2 and SOX10-mediated initiation of Schwann cell myelination
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- Limb-girdle muscular dystrophy (LGMD)
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- Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy
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BRINP1 and RAC1 |
BMP/retinoic acid inducible neural specific 1 |
Rac family small GTPase 1 |
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- GPVI-mediated activation cascade
- PIP3 activates AKT signaling
- Signaling by SCF-KIT
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Nef and signal transduction
- NRAGE signals death through JNK
- Rho GTPase cycle
- Regulation of actin dynamics for phagocytic cup formation
- Regulation of actin dynamics for phagocytic cup formation
- Constitutive Signaling by Aberrant PI3K in Cancer
- DAP12 signaling
- FCERI mediated MAPK activation
- DSCAM interactions
- CD28 dependent Vav1 pathway
- EPHB-mediated forward signaling
- Ephrin signaling
- EPH-ephrin mediated repulsion of cells
- Sema3A PAK dependent Axon repulsion
- SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion
- PCP/CE pathway
- Sema4D mediated inhibition of cell attachment and migration
- DCC mediated attractive signaling
- DCC mediated attractive signaling
- Activation of RAC1
- Inactivation of CDC42 and RAC1
- VEGFA-VEGFR2 Pathway
- Signal transduction by L1
- VEGFR2 mediated vascular permeability
- RHO GTPases activate PKNs
- RHO GTPases activate CIT
- RHO GTPases activate CIT
- RHO GTPases activate KTN1
- RHO GTPases activate IQGAPs
- RHO GTPases activate PAKs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate Formins
- RHO GTPases Activate Formins
- RHO GTPases Activate NADPH Oxidases
- MAPK6/MAPK4 signaling
- Neutrophil degranulation
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
- MET activates RAP1 and RAC1
- NTRK2 activates RAC1
- Activated NTRK2 signals through CDK5
- Activation of RAC1 downstream of NMDARs
- FCGR3A-mediated phagocytosis
- FCGR3A-mediated phagocytosis
- WNT5:FZD7-mediated leishmania damping
- Factors involved in megakaryocyte development and platelet production
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- Dextromethorphan
- Azathioprine
- Guanosine-5'-Diphosphate
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DCN and SFTPD |
decorin |
surfactant protein D |
- Degradation of the extracellular matrix
- A tetrasaccharide linker sequence is required for GAG synthesis
- Chondroitin sulfate biosynthesis
- Dermatan sulfate biosynthesis
- CS/DS degradation
- ECM proteoglycans
- ECM proteoglycans
- Defective B4GALT7 causes EDS, progeroid type
- Defective B3GAT3 causes JDSSDHD
- Defective CHST3 causes SEDCJD
- Defective CHST14 causes EDS, musculocontractural type
- Defective CHSY1 causes TPBS
- Defective B3GALT6 causes EDSP2 and SEMDJL1
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- Toll Like Receptor 4 (TLR4) Cascade
- Toll Like Receptor TLR1:TLR2 Cascade
- Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
- Signal regulatory protein family interactions
- Surfactant metabolism
- Regulation of TLR by endogenous ligand
- Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
- Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
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- Congenital stromal corneal dystrophy (CSCD); Congenital hereditary stromal dystrophy; Witschel dystrophy
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DCN and ELN |
decorin |
elastin |
- Degradation of the extracellular matrix
- A tetrasaccharide linker sequence is required for GAG synthesis
- Chondroitin sulfate biosynthesis
- Dermatan sulfate biosynthesis
- CS/DS degradation
- ECM proteoglycans
- ECM proteoglycans
- Defective B4GALT7 causes EDS, progeroid type
- Defective B3GAT3 causes JDSSDHD
- Defective CHST3 causes SEDCJD
- Defective CHST14 causes EDS, musculocontractural type
- Defective CHSY1 causes TPBS
- Defective B3GALT6 causes EDSP2 and SEMDJL1
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- Degradation of the extracellular matrix
- Elastic fibre formation
- Molecules associated with elastic fibres
- Molecules associated with elastic fibres
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- Congenital stromal corneal dystrophy (CSCD); Congenital hereditary stromal dystrophy; Witschel dystrophy
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- Congenital supravalvar aortic stenosis
- Cutis laxa, including: Autosomal dominant cutis laxa (ADCL); Autosomal recessive cutis laxa I (ARCL1); Autosomal recessive cutis laxa II (ARCL2); X-linked recessive cutis laxa (XRCL); Wrinkly skin syndrome
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DCTN1 and PGAM1 |
dynactin subunit 1 |
phosphoglycerate mutase 1 |
- MHC class II antigen presentation
- HSP90 chaperone cycle for steroid hormone receptors (SHR)
- XBP1(S) activates chaperone genes
- COPI-mediated anterograde transport
- COPI-independent Golgi-to-ER retrograde traffic
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- Neutrophil degranulation
- Glycolysis
- Gluconeogenesis
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- Amyotrophic lateral sclerosis (ALS); Lou Gehrig's disease
- Perry syndrome
- Distal hereditary motor neuropathies (dHMN)
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DDB1 and MAFB |
damage specific DNA binding protein 1 |
MAF bZIP transcription factor B |
- Recognition of DNA damage by PCNA-containing replication complex
- DNA Damage Recognition in GG-NER
- Formation of Incision Complex in GG-NER
- Dual Incision in GG-NER
- 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
- Neddylation
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- Activation of anterior HOX genes in hindbrain development during early embryogenesis
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- Disorders of nucleotide excision repair, including: Xeroderma pigmentosum (XP); Cockayne syndrome (CS); UV-sensitive syndrome (UVS); Trichothiodystrophy (TTD); Cerebro-oculo-facio-skeletal syndrome (COFS); XFE progeroid syndrome
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DDIT3 and HOXA5 |
DNA damage inducible transcript 3 |
homeobox A5 |
- ATF4 activates genes in response to endoplasmic reticulum stress
- ATF6 (ATF6-alpha) activates chaperone genes
- FOXO-mediated transcription of cell death genes
- FOXO-mediated transcription of cell death genes
- Response of EIF2AK4 (GCN2) to amino acid deficiency
- Response of EIF2AK1 (HRI) to heme deficiency
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DDIT3 and ATPAF2 |
DNA damage inducible transcript 3 |
ATP synthase mitochondrial F1 complex assembly factor 2 |
- ATF4 activates genes in response to endoplasmic reticulum stress
- ATF6 (ATF6-alpha) activates chaperone genes
- FOXO-mediated transcription of cell death genes
- FOXO-mediated transcription of cell death genes
- Response of EIF2AK4 (GCN2) to amino acid deficiency
- Response of EIF2AK1 (HRI) to heme deficiency
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DFFA and YWHAZ |
DNA fragmentation factor subunit alpha |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta |
- Apoptosis induced DNA fragmentation
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- Activation of BAD and translocation to mitochondria
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Deactivation of the beta-catenin transactivating complex
- Rap1 signalling
- GP1b-IX-V activation signalling
- KSRP (KHSRP) binds and destabilizes mRNA
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- RHO GTPases activate PKNs
- TP53 Regulates Metabolic Genes
- Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex
- NOTCH4 Activation and Transmission of Signal to the Nucleus
- Negative regulation of NOTCH4 signaling
- Regulation of localization of FOXO transcription factors
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DIAPH1 and RAC1 |
diaphanous related formin 1 |
Rac family small GTPase 1 |
- RHO GTPases Activate Formins
- ERBB2 Regulates Cell Motility
- Neutrophil degranulation
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- GPVI-mediated activation cascade
- PIP3 activates AKT signaling
- Signaling by SCF-KIT
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Nef and signal transduction
- NRAGE signals death through JNK
- Rho GTPase cycle
- Regulation of actin dynamics for phagocytic cup formation
- Regulation of actin dynamics for phagocytic cup formation
- Constitutive Signaling by Aberrant PI3K in Cancer
- DAP12 signaling
- FCERI mediated MAPK activation
- DSCAM interactions
- CD28 dependent Vav1 pathway
- EPHB-mediated forward signaling
- Ephrin signaling
- EPH-ephrin mediated repulsion of cells
- Sema3A PAK dependent Axon repulsion
- SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion
- PCP/CE pathway
- Sema4D mediated inhibition of cell attachment and migration
- DCC mediated attractive signaling
- DCC mediated attractive signaling
- Activation of RAC1
- Inactivation of CDC42 and RAC1
- VEGFA-VEGFR2 Pathway
- Signal transduction by L1
- VEGFR2 mediated vascular permeability
- RHO GTPases activate PKNs
- RHO GTPases activate CIT
- RHO GTPases activate CIT
- RHO GTPases activate KTN1
- RHO GTPases activate IQGAPs
- RHO GTPases activate PAKs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate Formins
- RHO GTPases Activate Formins
- RHO GTPases Activate NADPH Oxidases
- MAPK6/MAPK4 signaling
- Neutrophil degranulation
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
- MET activates RAP1 and RAC1
- NTRK2 activates RAC1
- Activated NTRK2 signals through CDK5
- Activation of RAC1 downstream of NMDARs
- FCGR3A-mediated phagocytosis
- FCGR3A-mediated phagocytosis
- WNT5:FZD7-mediated leishmania damping
- Factors involved in megakaryocyte development and platelet production
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- Dextromethorphan
- Azathioprine
- Guanosine-5'-Diphosphate
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DLG2 and NLGN1 |
discs large MAGUK scaffold protein 2 |
neuroligin 1 |
- Unblocking of NMDA receptors, glutamate binding and activation
- Unblocking of NMDA receptors, glutamate binding and activation
- Ras activation upon Ca2+ influx through NMDA receptor
- RAF/MAP kinase cascade
- Neurexins and neuroligins
- Neurexins and neuroligins
- Assembly and cell surface presentation of NMDA receptors
- Negative regulation of NMDA receptor-mediated neuronal transmission
- Long-term potentiation
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- Neurexins and neuroligins
- Neurexins and neuroligins
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DLG2 and NLGN3 |
discs large MAGUK scaffold protein 2 |
neuroligin 3 |
- Unblocking of NMDA receptors, glutamate binding and activation
- Unblocking of NMDA receptors, glutamate binding and activation
- Ras activation upon Ca2+ influx through NMDA receptor
- RAF/MAP kinase cascade
- Neurexins and neuroligins
- Neurexins and neuroligins
- Assembly and cell surface presentation of NMDA receptors
- Negative regulation of NMDA receptor-mediated neuronal transmission
- Long-term potentiation
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- Neurexins and neuroligins
- Neurexins and neuroligins
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DLG2 and NLGN2 |
discs large MAGUK scaffold protein 2 |
neuroligin 2 |
- Unblocking of NMDA receptors, glutamate binding and activation
- Unblocking of NMDA receptors, glutamate binding and activation
- Ras activation upon Ca2+ influx through NMDA receptor
- RAF/MAP kinase cascade
- Neurexins and neuroligins
- Neurexins and neuroligins
- Assembly and cell surface presentation of NMDA receptors
- Negative regulation of NMDA receptor-mediated neuronal transmission
- Long-term potentiation
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- Neurexins and neuroligins
- Neurexins and neuroligins
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