ACTA2 and CREBBP |
actin alpha 2, smooth muscle |
CREB binding protein |
- Smooth Muscle Contraction
- NOTCH4 Intracellular Domain Regulates Transcription
|
- Regulation of gene expression by Hypoxia-inducible Factor
- RORA activates gene expression
- BMAL1:CLOCK,NPAS2 activates circadian gene 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
- Circadian Clock
- 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
|
|
- 9-ACETYL-2,3,4,9-TETRAHYDRO-1H-CARBAZOL-1-ONE
|
- Familial thoracic aortic aneurysm and dissection (TAAD); Aortic aneurysm familial thoracic type (AAT)
|
- Rubinstein-Taybi syndrome
|
ACTA2 and TMSB4X |
actin alpha 2, smooth muscle |
thymosin beta 4 X-linked |
- Smooth Muscle Contraction
- NOTCH4 Intracellular Domain Regulates Transcription
|
|
|
|
- Familial thoracic aortic aneurysm and dissection (TAAD); Aortic aneurysm familial thoracic type (AAT)
|
|
ACTA2 and SNTA1 |
actin alpha 2, smooth muscle |
syntrophin alpha 1 |
- Smooth Muscle Contraction
- NOTCH4 Intracellular Domain Regulates Transcription
|
|
|
|
- Familial thoracic aortic aneurysm and dissection (TAAD); Aortic aneurysm familial thoracic type (AAT)
|
|
ACTA2 and EP300 |
actin alpha 2, smooth muscle |
E1A binding protein p300 |
- Smooth Muscle Contraction
- NOTCH4 Intracellular Domain Regulates Transcription
|
- Regulation of gene expression by Hypoxia-inducible Factor
- RORA activates gene expression
- RORA activates gene expression
- Polo-like kinase mediated events
- Pre-NOTCH Transcription and Translation
- Pre-NOTCH Transcription and Translation
- 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
- NOTCH2 intracellular domain regulates transcription
- 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
- Transcriptional regulation of white adipocyte differentiation
- Transcriptional regulation of white adipocyte differentiation
- SUMOylation of transcription cofactors
- Circadian Clock
- Circadian Clock
- B-WICH complex positively regulates rRNA expression
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- CD209 (DC-SIGN) signaling
- Metalloprotease DUBs
- 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
- TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
- Regulation of TP53 Activity through Acetylation
- Regulation of TP53 Activity through Methylation
- PI5P Regulates TP53 Acetylation
- Activation of the TFAP2 (AP-2) family of transcription factors
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- RUNX3 regulates NOTCH signaling
- RUNX3 regulates NOTCH signaling
- Regulation of RUNX3 expression and activity
- RUNX3 regulates p14-ARF
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH4 Intracellular Domain Regulates Transcription
- Estrogen-dependent gene expression
- NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
- NGF-stimulated transcription
- NGF-stimulated transcription
- TRAF3-dependent IRF activation pathway
- TRAF6 mediated IRF7 activation
- FOXO-mediated transcription of cell death genes
- Transcriptional regulation of granulopoiesis
- Transcriptional regulation of granulopoiesis
- Regulation of FOXO transcriptional activity by acetylation
- Regulation of FOXO transcriptional activity by acetylation
|
|
|
- Familial thoracic aortic aneurysm and dissection (TAAD); Aortic aneurysm familial thoracic type (AAT)
|
- Rubinstein-Taybi syndrome
|
ACTB and CCT5 |
actin beta |
chaperonin containing TCP1 subunit 5 |
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Gap junction degradation
- Formation of annular gap junctions
- Regulation of actin dynamics for phagocytic cup formation
- Regulation of actin dynamics for phagocytic cup formation
- HATs acetylate histones
- Prefoldin mediated transfer of substrate to CCT/TriC
- Folding of actin by CCT/TriC
- EPHB-mediated forward signaling
- EPH-ephrin mediated repulsion of cells
- Adherens junctions interactions
- Adherens junctions interactions
- Recycling pathway of L1
- Recycling pathway of L1
- VEGFA-VEGFR2 Pathway
- Interaction between L1 and Ankyrins
- Interaction between L1 and Ankyrins
- Cell-extracellular matrix interactions
- B-WICH complex positively regulates rRNA expression
- RHO GTPases activate IQGAPs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate Formins
- RHO GTPases Activate Formins
- MAP2K and MAPK activation
- UCH proteinases
- DNA Damage Recognition in GG-NER
- 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
- Clathrin-mediated endocytosis
- Signaling downstream of RAS mutants
- FCGR3A-mediated phagocytosis
- FCGR3A-mediated phagocytosis
- Factors involved in megakaryocyte development and platelet production
|
- Prefoldin mediated transfer of substrate to CCT/TriC
- Formation of tubulin folding intermediates by CCT/TriC
- Folding of actin by CCT/TriC
- Association of TriC/CCT with target proteins during biosynthesis
- Association of TriC/CCT with target proteins during biosynthesis
- BBSome-mediated cargo-targeting to cilium
- Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
|
- Quercetin
- Phenethyl Isothiocyanate
|
|
- Other phagocyte defects, including the following eight diseases: Chediak-Higashi syndrome; Griscelli syndrome, type 1 (GS1); Griscelli syndrome, type 2 (GS2); Griscelli syndrome, type 3 (GS3); beta-actin deficiency; Neutrophil-specific granule deficiency; Myeloperoxidase deficiency; Glucose 6-phosphate dehydrogenase deficiency; Shwachman syndrome
|
|
ACTB and BCL2L1 |
actin beta |
BCL2 like 1 |
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Gap junction degradation
- Formation of annular gap junctions
- Regulation of actin dynamics for phagocytic cup formation
- Regulation of actin dynamics for phagocytic cup formation
- HATs acetylate histones
- Prefoldin mediated transfer of substrate to CCT/TriC
- Folding of actin by CCT/TriC
- EPHB-mediated forward signaling
- EPH-ephrin mediated repulsion of cells
- Adherens junctions interactions
- Adherens junctions interactions
- Recycling pathway of L1
- Recycling pathway of L1
- VEGFA-VEGFR2 Pathway
- Interaction between L1 and Ankyrins
- Interaction between L1 and Ankyrins
- Cell-extracellular matrix interactions
- B-WICH complex positively regulates rRNA expression
- RHO GTPases activate IQGAPs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate Formins
- RHO GTPases Activate Formins
- MAP2K and MAPK activation
- UCH proteinases
- DNA Damage Recognition in GG-NER
- 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
- Clathrin-mediated endocytosis
- Signaling downstream of RAS mutants
- FCGR3A-mediated phagocytosis
- FCGR3A-mediated phagocytosis
- Factors involved in megakaryocyte development and platelet production
|
- BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
- Interleukin-4 and Interleukin-13 signaling
- The NLRP1 inflammasome
|
- Quercetin
- Phenethyl Isothiocyanate
|
- 4'-FLUORO-1,1'-BIPHENYL-4-CARBOXYLIC ACID
- Gossypol
|
- Other phagocyte defects, including the following eight diseases: Chediak-Higashi syndrome; Griscelli syndrome, type 1 (GS1); Griscelli syndrome, type 2 (GS2); Griscelli syndrome, type 3 (GS3); beta-actin deficiency; Neutrophil-specific granule deficiency; Myeloperoxidase deficiency; Glucose 6-phosphate dehydrogenase deficiency; Shwachman syndrome
|
|
ACTB and MX1 |
actin beta |
MX dynamin like GTPase 1 |
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Gap junction degradation
- Formation of annular gap junctions
- Regulation of actin dynamics for phagocytic cup formation
- Regulation of actin dynamics for phagocytic cup formation
- HATs acetylate histones
- Prefoldin mediated transfer of substrate to CCT/TriC
- Folding of actin by CCT/TriC
- EPHB-mediated forward signaling
- EPH-ephrin mediated repulsion of cells
- Adherens junctions interactions
- Adherens junctions interactions
- Recycling pathway of L1
- Recycling pathway of L1
- VEGFA-VEGFR2 Pathway
- Interaction between L1 and Ankyrins
- Interaction between L1 and Ankyrins
- Cell-extracellular matrix interactions
- B-WICH complex positively regulates rRNA expression
- RHO GTPases activate IQGAPs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate Formins
- RHO GTPases Activate Formins
- MAP2K and MAPK activation
- UCH proteinases
- DNA Damage Recognition in GG-NER
- 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
- Clathrin-mediated endocytosis
- Signaling downstream of RAS mutants
- FCGR3A-mediated phagocytosis
- FCGR3A-mediated phagocytosis
- Factors involved in megakaryocyte development and platelet production
|
- ISG15 antiviral mechanism
- Interferon alpha/beta signaling
|
- Quercetin
- Phenethyl Isothiocyanate
|
|
- Other phagocyte defects, including the following eight diseases: Chediak-Higashi syndrome; Griscelli syndrome, type 1 (GS1); Griscelli syndrome, type 2 (GS2); Griscelli syndrome, type 3 (GS3); beta-actin deficiency; Neutrophil-specific granule deficiency; Myeloperoxidase deficiency; Glucose 6-phosphate dehydrogenase deficiency; Shwachman syndrome
|
|
ACTB and HCK |
actin beta |
HCK proto-oncogene, Src family tyrosine kinase |
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Gap junction degradation
- Formation of annular gap junctions
- Regulation of actin dynamics for phagocytic cup formation
- Regulation of actin dynamics for phagocytic cup formation
- HATs acetylate histones
- Prefoldin mediated transfer of substrate to CCT/TriC
- Folding of actin by CCT/TriC
- EPHB-mediated forward signaling
- EPH-ephrin mediated repulsion of cells
- Adherens junctions interactions
- Adherens junctions interactions
- Recycling pathway of L1
- Recycling pathway of L1
- VEGFA-VEGFR2 Pathway
- Interaction between L1 and Ankyrins
- Interaction between L1 and Ankyrins
- Cell-extracellular matrix interactions
- B-WICH complex positively regulates rRNA expression
- RHO GTPases activate IQGAPs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate Formins
- RHO GTPases Activate Formins
- MAP2K and MAPK activation
- UCH proteinases
- DNA Damage Recognition in GG-NER
- 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
- Clathrin-mediated endocytosis
- Signaling downstream of RAS mutants
- FCGR3A-mediated phagocytosis
- FCGR3A-mediated phagocytosis
- Factors involved in megakaryocyte development and platelet production
|
- Nef and signal transduction
- FCGR activation
- Regulation of signaling by CBL
- Regulation of signaling by CBL
- FLT3 Signaling
- FCGR3A-mediated IL10 synthesis
- FCGR3A-mediated phagocytosis
|
- Quercetin
- Phenethyl Isothiocyanate
|
- 1-Ter-Butyl-3-P-Tolyl-1h-Pyrazolo[3,4-D]Pyrimidin-4-Ylamine
- Phosphonotyrosine
- Quercetin
- Bosutinib
|
- Other phagocyte defects, including the following eight diseases: Chediak-Higashi syndrome; Griscelli syndrome, type 1 (GS1); Griscelli syndrome, type 2 (GS2); Griscelli syndrome, type 3 (GS3); beta-actin deficiency; Neutrophil-specific granule deficiency; Myeloperoxidase deficiency; Glucose 6-phosphate dehydrogenase deficiency; Shwachman syndrome
|
|
ACTB and CFL1 |
actin beta |
cofilin 1 |
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Gap junction degradation
- Formation of annular gap junctions
- Regulation of actin dynamics for phagocytic cup formation
- Regulation of actin dynamics for phagocytic cup formation
- HATs acetylate histones
- Prefoldin mediated transfer of substrate to CCT/TriC
- Folding of actin by CCT/TriC
- EPHB-mediated forward signaling
- EPH-ephrin mediated repulsion of cells
- Adherens junctions interactions
- Adherens junctions interactions
- Recycling pathway of L1
- Recycling pathway of L1
- VEGFA-VEGFR2 Pathway
- Interaction between L1 and Ankyrins
- Interaction between L1 and Ankyrins
- Cell-extracellular matrix interactions
- B-WICH complex positively regulates rRNA expression
- RHO GTPases activate IQGAPs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate Formins
- RHO GTPases Activate Formins
- MAP2K and MAPK activation
- UCH proteinases
- DNA Damage Recognition in GG-NER
- 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
- Clathrin-mediated endocytosis
- Signaling downstream of RAS mutants
- FCGR3A-mediated phagocytosis
- FCGR3A-mediated phagocytosis
- Factors involved in megakaryocyte development and platelet production
|
- Platelet degranulation
- Regulation of actin dynamics for phagocytic cup formation
- EPHB-mediated forward signaling
- Sema3A PAK dependent Axon repulsion
- RHO GTPases Activate ROCKs
- Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
|
- Quercetin
- Phenethyl Isothiocyanate
|
- Lauryl Dimethylamine-N-Oxide
- Copper
- Artenimol
|
- Other phagocyte defects, including the following eight diseases: Chediak-Higashi syndrome; Griscelli syndrome, type 1 (GS1); Griscelli syndrome, type 2 (GS2); Griscelli syndrome, type 3 (GS3); beta-actin deficiency; Neutrophil-specific granule deficiency; Myeloperoxidase deficiency; Glucose 6-phosphate dehydrogenase deficiency; Shwachman syndrome
|
|
ACTB and SAMHD1 |
actin beta |
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Gap junction degradation
- Formation of annular gap junctions
- Regulation of actin dynamics for phagocytic cup formation
- Regulation of actin dynamics for phagocytic cup formation
- HATs acetylate histones
- Prefoldin mediated transfer of substrate to CCT/TriC
- Folding of actin by CCT/TriC
- EPHB-mediated forward signaling
- EPH-ephrin mediated repulsion of cells
- Adherens junctions interactions
- Adherens junctions interactions
- Recycling pathway of L1
- Recycling pathway of L1
- VEGFA-VEGFR2 Pathway
- Interaction between L1 and Ankyrins
- Interaction between L1 and Ankyrins
- Cell-extracellular matrix interactions
- B-WICH complex positively regulates rRNA expression
- RHO GTPases activate IQGAPs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate Formins
- RHO GTPases Activate Formins
- MAP2K and MAPK activation
- UCH proteinases
- DNA Damage Recognition in GG-NER
- 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
- Clathrin-mediated endocytosis
- Signaling downstream of RAS mutants
- FCGR3A-mediated phagocytosis
- FCGR3A-mediated phagocytosis
- Factors involved in megakaryocyte development and platelet production
|
- Nucleobase catabolism
- Interferon alpha/beta signaling
|
- Quercetin
- Phenethyl Isothiocyanate
|
|
- Other phagocyte defects, including the following eight diseases: Chediak-Higashi syndrome; Griscelli syndrome, type 1 (GS1); Griscelli syndrome, type 2 (GS2); Griscelli syndrome, type 3 (GS3); beta-actin deficiency; Neutrophil-specific granule deficiency; Myeloperoxidase deficiency; Glucose 6-phosphate dehydrogenase deficiency; Shwachman syndrome
|
- Aicardi-Goutieres Syndrome (AGS)
|
ACTB and RAC1 |
actin beta |
Rac family small GTPase 1 |
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Gap junction degradation
- Formation of annular gap junctions
- Regulation of actin dynamics for phagocytic cup formation
- Regulation of actin dynamics for phagocytic cup formation
- HATs acetylate histones
- Prefoldin mediated transfer of substrate to CCT/TriC
- Folding of actin by CCT/TriC
- EPHB-mediated forward signaling
- EPH-ephrin mediated repulsion of cells
- Adherens junctions interactions
- Adherens junctions interactions
- Recycling pathway of L1
- Recycling pathway of L1
- VEGFA-VEGFR2 Pathway
- Interaction between L1 and Ankyrins
- Interaction between L1 and Ankyrins
- Cell-extracellular matrix interactions
- B-WICH complex positively regulates rRNA expression
- RHO GTPases activate IQGAPs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate Formins
- RHO GTPases Activate Formins
- MAP2K and MAPK activation
- UCH proteinases
- DNA Damage Recognition in GG-NER
- 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
- Clathrin-mediated endocytosis
- Signaling downstream of RAS mutants
- FCGR3A-mediated phagocytosis
- FCGR3A-mediated phagocytosis
- Factors involved in megakaryocyte development and platelet production
|
- 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
|
- Quercetin
- Phenethyl Isothiocyanate
|
- Dextromethorphan
- Azathioprine
- Guanosine-5'-Diphosphate
|
- Other phagocyte defects, including the following eight diseases: Chediak-Higashi syndrome; Griscelli syndrome, type 1 (GS1); Griscelli syndrome, type 2 (GS2); Griscelli syndrome, type 3 (GS3); beta-actin deficiency; Neutrophil-specific granule deficiency; Myeloperoxidase deficiency; Glucose 6-phosphate dehydrogenase deficiency; Shwachman syndrome
|
|
ACTC1 and CFL1 |
actin alpha cardiac muscle 1 |
cofilin 1 |
- Striated Muscle Contraction
|
- Platelet degranulation
- Regulation of actin dynamics for phagocytic cup formation
- EPHB-mediated forward signaling
- Sema3A PAK dependent Axon repulsion
- RHO GTPases Activate ROCKs
- Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
|
|
- Lauryl Dimethylamine-N-Oxide
- Copper
- Artenimol
|
- Hypertrophic cardiomyopathy (HCM)
- Atrial septal defect
- Dilated cardiomyopathy (DCM)
|
|
ACTC1 and UBC |
actin alpha cardiac muscle 1 |
ubiquitin C |
- Striated Muscle Contraction
|
- Translesion synthesis by REV1
- Recognition of DNA damage by PCNA-containing replication complex
- Translesion Synthesis by POLH
- Activation of NF-kappaB in B cells
- ISG15 antiviral mechanism
- Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
- Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
- ER-Phagosome pathway
- Downregulation of ERBB4 signaling
- Spry regulation of FGF signaling
- Downregulation of ERBB2:ERBB3 signaling
- Budding and maturation of HIV virion
- NOD1/2 Signaling Pathway
- TICAM1, RIP1-mediated IKK complex recruitment
- DDX58/IFIH1-mediated induction of interferon-alpha/beta
- APC/C:Cdc20 mediated degradation of Cyclin B
- Autodegradation of Cdh1 by Cdh1:APC/C
- SCF-beta-TrCP mediated degradation of Emi1
- APC/C:Cdc20 mediated degradation of Securin
- APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
- Cdc20:Phospho-APC/C mediated degradation of Cyclin A
- Membrane binding and targetting of GAG proteins
- Assembly Of The HIV Virion
- APC-Cdc20 mediated degradation of Nek2A
- Vpu mediated degradation of CD4
- Vif-mediated degradation of APOBEC3G
- EGFR downregulation
- SCF(Skp2)-mediated degradation of p27/p21
- Degradation of beta-catenin by the destruction complex
- TCF dependent signaling in response to WNT
- Downstream TCR signaling
- NRIF signals cell death from the nucleus
- p75NTR recruits signalling complexes
- NF-kB is activated and signals survival
- Regulation of activated PAK-2p34 by proteasome mediated degradation
- NOTCH1 Intracellular Domain Regulates Transcription
- Activated NOTCH1 Transmits Signal to the Nucleus
- Activated NOTCH1 Transmits Signal to the Nucleus
- Downregulation of TGF-beta receptor signaling
- Downregulation of TGF-beta receptor signaling
- TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
- Downregulation of SMAD2/3:SMAD4 transcriptional activity
- Downregulation of SMAD2/3:SMAD4 transcriptional activity
- SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
- SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
- Separation of Sister Chromatids
- Oxidative Stress Induced Senescence
- Senescence-Associated Secretory Phenotype (SASP)
- Oncogene Induced Senescence
- Regulation of PLK1 Activity at G2/M Transition
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Stimuli-sensing channels
- Constitutive Signaling by NOTCH1 HD Domain Mutants
- FCERI mediated NF-kB activation
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- NOTCH2 Activation and Transmission of Signal to the Nucleus
- Regulation of innate immune responses to cytosolic DNA
- Glycogen synthesis
- Autodegradation of the E3 ubiquitin ligase COP1
- Deactivation of the beta-catenin transactivating complex
- Myoclonic epilepsy of Lafora
- ABC-family proteins mediated transport
- Circadian Clock
- TAK1 activates NFkB by phosphorylation and activation of IKKs complex
- activated TAK1 mediates p38 MAPK activation
- JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1
- AUF1 (hnRNP D0) binds and destabilizes mRNA
- Asymmetric localization of PCP proteins
- Degradation of AXIN
- Degradation of DVL
- Regulation of FZD by ubiquitination
- Pink/Parkin Mediated Mitophagy
- N-glycan trimming in the ER and Calnexin/Calreticulin cycle
- Regulation of TNFR1 signaling
- TNFR1-induced NFkappaB signaling pathway
- Hedgehog ligand biogenesis
- Hh mutants that don't undergo autocatalytic processing are degraded by ERAD
- Dectin-1 mediated noncanonical NF-kB signaling
- CLEC7A (Dectin-1) signaling
- Degradation of GLI1 by the proteasome
- Degradation of GLI2 by the proteasome
- GLI3 is processed to GLI3R by the proteasome
- Hedgehog 'on' state
- Hedgehog 'on' state
- Negative regulation of FGFR1 signaling
- Negative regulation of FGFR2 signaling
- Negative regulation of FGFR3 signaling
- Negative regulation of FGFR4 signaling
- Translesion synthesis by POLK
- Translesion synthesis by POLI
- Termination of translesion DNA synthesis
- Regulation of RAS by GAPs
- TNFR2 non-canonical NF-kB pathway
- Negative regulation of MAPK pathway
- Regulation of necroptotic cell death
- NIK - noncanonical NF-kB signaling
- Defective CFTR causes cystic fibrosis
- MAP3K8 (TPL2)-dependent MAPK1/3 activation
- HDR through Homologous Recombination (HRR)
- MAPK6/MAPK4 signaling
- UCH proteinases
- UCH proteinases
- Josephin domain DUBs
- Ub-specific processing proteases
- Ovarian tumor domain proteases
- Metalloprotease DUBs
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Processing of DNA double-strand break ends
- DNA Damage Recognition in GG-NER
- Formation of Incision Complex in GG-NER
- Gap-filling DNA repair synthesis and ligation 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
- Fanconi Anemia Pathway
- Regulation of TP53 Activity through Phosphorylation
- Regulation of TP53 Degradation
- Regulation of TP53 Activity through Methylation
- Negative regulation of MET activity
- CDT1 association with the CDC6:ORC:origin complex
- Orc1 removal from chromatin
- CDK-mediated phosphorylation and removal of Cdc6
- Cyclin D associated events in G1
- G2/M Checkpoints
- Stabilization of p53
- Ubiquitin Mediated Degradation of Phosphorylated Cdc25A
- Ubiquitin-dependent degradation of Cyclin D
- PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1
- The role of GTSE1 in G2/M progression after G2 checkpoint
- FBXL7 down-regulates AURKA during mitotic entry and in early mitosis
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- Downregulation of ERBB2 signaling
- Synthesis of active ubiquitin: roles of E1 and E2 enzymes
- Synthesis of active ubiquitin: roles of E1 and E2 enzymes
- E3 ubiquitin ligases ubiquitinate target proteins
- InlB-mediated entry of Listeria monocytogenes into host cell
- InlB-mediated entry of Listeria monocytogenes into host cell
- InlA-mediated entry of Listeria monocytogenes into host cells
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- Regulation of RUNX2 expression and activity
- Regulation of RUNX2 expression and activity
- Regulation of RUNX3 expression and activity
- Regulation of PTEN localization
- Regulation of PTEN stability and activity
- Neddylation
- ER Quality Control Compartment (ERQC)
- Regulation of expression of SLITs and ROBOs
- Regulation of expression of SLITs and ROBOs
- NOTCH3 Activation and Transmission of Signal to the Nucleus
- NOTCH3 Activation and Transmission of Signal to the Nucleus
- TICAM1-dependent activation of IRF3/IRF7
- TICAM1,TRAF6-dependent induction of TAK1 complex
- Interleukin-1 signaling
- Peroxisomal protein import
- Peroxisomal protein import
- Regulation of signaling by CBL
- Endosomal Sorting Complex Required For Transport (ESCRT)
- Iron uptake and transport
- Negative regulators of DDX58/IFIH1 signaling
- Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon
- IRAK1 recruits IKK complex
- IKK complex recruitment mediated by RIP1
- IRAK2 mediated activation of TAK1 complex
- TRAF6-mediated induction of TAK1 complex within TLR4 complex
- Negative regulation of NOTCH4 signaling
- Chaperone Mediated Autophagy
- Late endosomal microautophagy
- Prevention of phagosomal-lysosomal fusion
- Modulation by Mtb of host immune system
- Alpha-protein kinase 1 signaling pathway
- Aggrephagy
- Aggrephagy
- Pexophagy
- TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling
- IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation
- IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation
- Amyloid fiber formation
- Antigen processing: Ubiquitination & Proteasome degradation
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- Hypertrophic cardiomyopathy (HCM)
- Atrial septal defect
- Dilated cardiomyopathy (DCM)
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ACTC1 and HSPB1 |
actin alpha cardiac muscle 1 |
heat shock protein family B (small) member 1 |
- Striated Muscle Contraction
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- VEGFA-VEGFR2 Pathway
- AUF1 (hnRNP D0) binds and destabilizes mRNA
- MAPK6/MAPK4 signaling
- Extra-nuclear estrogen signaling
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- Apatorsen
- Phenethyl Isothiocyanate
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- Hypertrophic cardiomyopathy (HCM)
- Atrial septal defect
- Dilated cardiomyopathy (DCM)
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- Distal hereditary motor neuropathies (dHMN)
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ACTG1 and CFL1 |
actin gamma 1 |
cofilin 1 |
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Gap junction degradation
- Formation of annular gap junctions
- Regulation of actin dynamics for phagocytic cup formation
- Regulation of actin dynamics for phagocytic cup formation
- EPHB-mediated forward signaling
- EPH-ephrin mediated repulsion of cells
- Adherens junctions interactions
- Adherens junctions interactions
- Recycling pathway of L1
- Recycling pathway of L1
- VEGFA-VEGFR2 Pathway
- Interaction between L1 and Ankyrins
- Interaction between L1 and Ankyrins
- Cell-extracellular matrix interactions
- RHO GTPases activate IQGAPs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate Formins
- RHO GTPases Activate Formins
- 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
- Clathrin-mediated endocytosis
- Signaling downstream of RAS mutants
- FCGR3A-mediated phagocytosis
- FCGR3A-mediated phagocytosis
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- Platelet degranulation
- Regulation of actin dynamics for phagocytic cup formation
- EPHB-mediated forward signaling
- Sema3A PAK dependent Axon repulsion
- RHO GTPases Activate ROCKs
- Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
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- Lauryl Dimethylamine-N-Oxide
- Copper
- Artenimol
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ACTN4 and ITGB1 |
actinin alpha 4 |
integrin subunit beta 1 |
- Platelet degranulation
- Nephrin family interactions
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- Elastic fibre formation
- Fibronectin matrix formation
- Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
- Cell surface interactions at the vascular wall
- Basigin interactions
- Molecules associated with elastic fibres
- Integrin cell surface interactions
- Integrin cell surface interactions
- Laminin interactions
- Laminin interactions
- Syndecan interactions
- ECM proteoglycans
- Other semaphorin interactions
- Signal transduction by L1
- Localization of the PINCH-ILK-PARVIN complex to focal adhesions
- CHL1 interactions
- RHO GTPases Activate Formins
- Interleukin-4 and Interleukin-13 signaling
- Platelet Adhesion to exposed collagen
- MET activates PTK2 signaling
- MET interacts with TNS proteins
- HCMV Early Events
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- Antithymocyte immunoglobulin (rabbit)
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- Nephrotic syndrome and focal segmental glomerulosclerosis
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ACTN4 and STAT1 |
actinin alpha 4 |
signal transducer and activator of transcription 1 |
- Platelet degranulation
- Nephrin family interactions
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- Interleukin-6 signaling
- ISG15 antiviral mechanism
- Signaling by SCF-KIT
- Signaling by cytosolic FGFR1 fusion mutants
- Downstream signal transduction
- Interleukin-4 and Interleukin-13 signaling
- Interleukin-20 family signaling
- Regulation of RUNX2 expression and activity
- Interleukin-35 Signalling
- Interleukin-9 signaling
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH3 Intracellular Domain Regulates Transcription
- Interleukin-27 signaling
- Interleukin-21 signaling
- Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants
- Signaling by PDGFRA extracellular domain mutants
- Growth hormone receptor signaling
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- Nephrotic syndrome and focal segmental glomerulosclerosis
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- Chronic Mucocutaneous Candidiasis (CMC); Familial candidiasis (CANDF)
- IFN-gamma/IL-12 axis, including the following five diseases: IL-12 p40 subunit deficiency; IL-12 receptor (IL-12R) beta1 chain deficiency; IFN-gamma receptor (IFN gamma R) alpha chain deficiency; IFN-gamma receptor (IFN gamma R) beta chain deficiency; STAT-1 deficiency
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ACTN4 and HSPB1 |
actinin alpha 4 |
heat shock protein family B (small) member 1 |
- Platelet degranulation
- Nephrin family interactions
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- VEGFA-VEGFR2 Pathway
- AUF1 (hnRNP D0) binds and destabilizes mRNA
- MAPK6/MAPK4 signaling
- Extra-nuclear estrogen signaling
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- Apatorsen
- Phenethyl Isothiocyanate
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- Nephrotic syndrome and focal segmental glomerulosclerosis
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- Distal hereditary motor neuropathies (dHMN)
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ACTN4 and KPNA2 |
actinin alpha 4 |
karyopherin subunit alpha 2 |
- Platelet degranulation
- Nephrin family interactions
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- CaMK IV-mediated phosphorylation of CREB
- ISG15 antiviral mechanism
- NS1 Mediated Effects on Host Pathways
- CREB1 phosphorylation through the activation of CaMKII/CaMKK/CaMKIV cascasde
- Sensing of DNA Double Strand Breaks
- Estrogen-dependent gene expression
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- Nephrotic syndrome and focal segmental glomerulosclerosis
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ACTL6A and RELA |
actin like 6A |
RELA proto-oncogene, NF-kB subunit |
- HATs acetylate histones
- RMTs methylate histone arginines
- UCH proteinases
- DNA Damage Recognition in GG-NER
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
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- Activation of NF-kappaB in B cells
- RIP-mediated NFkB activation via ZBP1
- Regulated proteolysis of p75NTR
- Downstream TCR signaling
- NF-kB is activated and signals survival
- Senescence-Associated Secretory Phenotype (SASP)
- FCERI mediated NF-kB activation
- DEx/H-box helicases activate type I IFN and inflammatory cytokines production
- PKMTs methylate histone lysines
- Transcriptional regulation of white adipocyte differentiation
- TAK1 activates NFkB by phosphorylation and activation of IKKs complex
- Interleukin-1 processing
- SUMOylation of immune response proteins
- IkBA variant leads to EDA-ID
- Dectin-1 mediated noncanonical NF-kB signaling
- CLEC7A (Dectin-1) signaling
- CD209 (DC-SIGN) signaling
- CLEC7A/inflammasome pathway
- The NLRP3 inflammasome
- Transcriptional Regulation by VENTX
- Interleukin-1 signaling
- TRAF6 mediated NF-kB activation
- Purinergic signaling in leishmaniasis infection
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