ABL1 and HCK |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
HCK proto-oncogene, Src family tyrosine kinase |
- Regulation of actin dynamics for phagocytic cup formation
- Role of ABL in ROBO-SLIT signaling
- Role of ABL in ROBO-SLIT signaling
- Myogenesis
- Myogenesis
- RHO GTPases Activate WASPs and WAVEs
- HDR through Single Strand Annealing (SSA)
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Cyclin D associated events in G1
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- RUNX2 regulates osteoblast differentiation
- FCGR3A-mediated phagocytosis
- Factors involved in megakaryocyte development and platelet production
|
- 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
|
- ATP
- Imatinib
- Dasatinib
- N-[4-Methyl-3-[[4-(3-Pyridinyl)-2-Pyrimidinyl]Amino]Phenyl]-3-Pyridinecarboxamide
- Nilotinib
- XL228
- Bosutinib
- 2-{[(6-OXO-1,6-DIHYDROPYRIDIN-3-YL)METHYL]AMINO}-N-[4-PROPYL-3-(TRIFLUOROMETHYL)PHENYL]BENZAMIDE
- 1-[4-(PYRIDIN-4-YLOXY)PHENYL]-3-[3-(TRIFLUOROMETHYL)PHENYL]UREA
- Myristic acid
- 6-(2,6-DICHLOROPHENYL)-2-{[3-(HYDROXYMETHYL)PHENYL]AMINO}-8-METHYLPYRIDO[2,3-D]PYRIMIDIN-7(8H)-ONE
- 5-[3-(2-METHOXYPHENYL)-1H-PYRROLO[2,3-B]PYRIDIN-5-YL]-N,N-DIMETHYLPYRIDINE-3-CARBOXAMIDE
- 2-amino-5-[3-(1-ethyl-1H-pyrazol-5-yl)-1H-pyrrolo[2,3-b]pyridin-5-yl]-N,N-dimethylbenzamide
- Regorafenib
- Ponatinib
- Brigatinib
- Radotinib
|
- 1-Ter-Butyl-3-P-Tolyl-1h-Pyrazolo[3,4-D]Pyrimidin-4-Ylamine
- Phosphonotyrosine
- Quercetin
- Bosutinib
|
- Chronic myeloid leukemia (CML)
- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
|
|
ABL2 and C15orf48 |
ABL proto-oncogene 2, non-receptor tyrosine kinase |
chromosome 15 open reading frame 48 |
- Role of ABL in ROBO-SLIT signaling
- Role of ABL in ROBO-SLIT signaling
|
|
- ATP
- Dasatinib
- XL228
- 5-AMINO-3-{[4-(AMINOSULFONYL)PHENYL]AMINO}-N-(2,6-DIFLUOROPHENYL)-1H-1,2,4-TRIAZOLE-1-CARBOTHIOAMIDE
|
|
|
|
ABL2 and BCR |
ABL proto-oncogene 2, non-receptor tyrosine kinase |
BCR activator of RhoGEF and GTPase |
- Role of ABL in ROBO-SLIT signaling
- Role of ABL in ROBO-SLIT signaling
|
- Signaling by cytosolic FGFR1 fusion mutants
- Rho GTPase cycle
- Signaling by FGFR1 in disease
|
- ATP
- Dasatinib
- XL228
- 5-AMINO-3-{[4-(AMINOSULFONYL)PHENYL]AMINO}-N-(2,6-DIFLUOROPHENYL)-1H-1,2,4-TRIAZOLE-1-CARBOTHIOAMIDE
|
- Dasatinib
- Bosutinib
- Ponatinib
|
|
- Chronic myeloid leukemia (CML)
- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
|
ABL2 and HCK |
ABL proto-oncogene 2, non-receptor tyrosine kinase |
HCK proto-oncogene, Src family tyrosine kinase |
- Role of ABL in ROBO-SLIT signaling
- Role of ABL in ROBO-SLIT signaling
|
- 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
|
- ATP
- Dasatinib
- XL228
- 5-AMINO-3-{[4-(AMINOSULFONYL)PHENYL]AMINO}-N-(2,6-DIFLUOROPHENYL)-1H-1,2,4-TRIAZOLE-1-CARBOTHIOAMIDE
|
- 1-Ter-Butyl-3-P-Tolyl-1h-Pyrazolo[3,4-D]Pyrimidin-4-Ylamine
- Phosphonotyrosine
- Quercetin
- Bosutinib
|
|
|
ACP1 and INSR |
acid phosphatase 1 |
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
|
- Adenine
- 4-Nitrophenyl Phosphate
|
- 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
- Brigatinib
|
|
- Rabson-Mendenhall syndrome
- Leprechaunism ; Donohue syndrome
|
ACTA1 and RAC1 |
actin alpha 1, skeletal muscle |
Rac family small GTPase 1 |
- Striated Muscle Contraction
|
- 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
|
- Latrunculin A
- Sucrose
- Ulapualide A
- Kabiramide C
- Jaspisamide A
- Tmr
- 4-Methyl-Histidine
- Phosphoaminophosphonic Acid-Adenylate Ester
- Aplyronine A
- Reidispongiolide A
- Reidispongiolide C
- Sphinxolide B
- LATRUNCULIN B
|
- Dextromethorphan
- Azathioprine
- Guanosine-5'-Diphosphate
|
- Congenital fiber type disproportion (CFTD)
- Cap myopathy
- Nemaline myopathy
|
|
ACTB and NCF1 |
actin beta |
neutrophil cytosolic factor 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
|
- ROS and RNS production in phagocytes
- Cross-presentation of particulate exogenous antigens (phagosomes)
- Detoxification of Reactive Oxygen Species
- VEGFA-VEGFR2 Pathway
- RHO GTPases Activate NADPH Oxidases
|
- 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
|
- Chronic granulomatous disease, including the following four diseases: X-linked CGD (gp91 phox CGD); p22phox deficiency (p22phox CGD); p47phox deficiency (p47phox CGD); p67phox deficiency (p67phox CGD)
|
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 LMNA |
actin beta |
lamin A/C |
- 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
|
- XBP1(S) activates chaperone genes
- Signaling by BRAF and RAF fusions
|
- 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
|
- Restrictive dermopathy
- Emery-Dreifuss muscular dystrophy
- Dilated cardiomyopathy (DCM)
- Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
- Mandibuloacral dysplasia
- 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
- Limb-girdle muscular dystrophy (LGMD)
- Familial partial lipodystrophy (FPL), including the following four diseases: Kobberling-type lipodystrophy (FPLD1); Dunnigan-type lipodystrophy (FPLD2); Dunnigan-like lipodystrophy (FPLD3); AKT2 associated lipodystrophy
- Hutchinson-Gilford progeria syndrome
|
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
|
|
ACTB and RAC2 |
actin beta |
Rac family small GTPase 2 |
- 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
- ROS and RNS production in phagocytes
- PIP3 activates AKT signaling
- Rho GTPase cycle
- Constitutive Signaling by Aberrant PI3K in Cancer
- PCP/CE pathway
- RHO GTPases Activate NADPH Oxidases
- PI5P, PP2A and IER3 Regulate PI3K/AKT 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
|
- Leukocyte adhesion deficiency (LAD), including the following four diseases: Leukocyte adhesion deficiency (I); Leukocyte adhesion deficiency (II); Leukocyte adhesion deficiency (III); LAD with Rac2 deficiency
|
ACTC1 and PLEC |
actin alpha cardiac muscle 1 |
plectin |
- Striated Muscle Contraction
|
- Assembly of collagen fibrils and other multimeric structures
- Caspase-mediated cleavage of cytoskeletal proteins
- Type I hemidesmosome assembly
|
|
|
- Hypertrophic cardiomyopathy (HCM)
- Atrial septal defect
- Dilated cardiomyopathy (DCM)
|
- 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
- Epidermolysis bullosa, hemidesmosomal, including: Epidermolysis bullosa, generalized atrophic benign (GABEB); Epidermolysis bullosa simplex with pyloric atresia (EBS-PA); Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD); Epidermolysis bullosa simplex, Ogna type (EBS-Ogna)
|
ACTG1 and CYBB |
actin gamma 1 |
cytochrome b-245 beta chain |
- 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
|
- ROS and RNS production in phagocytes
- Cross-presentation of particulate exogenous antigens (phagosomes)
- Detoxification of Reactive Oxygen Species
- VEGFA-VEGFR2 Pathway
- RHO GTPases Activate NADPH Oxidases
- Neutrophil degranulation
|
|
|
|
- Chronic granulomatous disease, including the following four diseases: X-linked CGD (gp91 phox CGD); p22phox deficiency (p22phox CGD); p47phox deficiency (p47phox CGD); p67phox deficiency (p67phox CGD)
|
ACTG1 and PLEC |
actin gamma 1 |
plectin |
- 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
|
- Assembly of collagen fibrils and other multimeric structures
- Caspase-mediated cleavage of cytoskeletal proteins
- Type I hemidesmosome assembly
|
|
|
|
- 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
- Epidermolysis bullosa, hemidesmosomal, including: Epidermolysis bullosa, generalized atrophic benign (GABEB); Epidermolysis bullosa simplex with pyloric atresia (EBS-PA); Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD); Epidermolysis bullosa simplex, Ogna type (EBS-Ogna)
|
ACTN2 and GRIN1 |
actinin alpha 2 |
glutamate ionotropic receptor NMDA type subunit 1 |
- Platelet degranulation
- Nephrin family interactions
- Striated Muscle Contraction
- 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
- Assembly and cell surface presentation of NMDA receptors
- Negative regulation of NMDA receptor-mediated neuronal transmission
- Long-term potentiation
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- EPHB-mediated forward signaling
- EPHB-mediated forward signaling
- 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
- Synaptic adhesion-like molecules
- Assembly and cell surface presentation of NMDA receptors
- Assembly and cell surface presentation of NMDA receptors
- Negative regulation of NMDA receptor-mediated neuronal transmission
- Long-term potentiation
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- Glutamic Acid
- Atomoxetine
- Pentobarbital
- Secobarbital
- Pethidine
- Acamprosate
- Gabapentin
- Memantine
- Orphenadrine
- Phenobarbital
- Prasterone
- Dcka, 5,7-Dichlorokynurenic Acid
- D-Serine
- Cycloleucine
- Milnacipran
- CNS-5161
- Acetylcysteine
- Ketobemidone
- Gavestinel
- Agmatine
- Ifenprodil
- Magnesium acetate tetrahydrate
- Magnesium carbonate
- Fluciclovine (18F)
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ADA and ADORA1 |
adenosine deaminase |
adenosine A1 receptor |
|
- Adenosine P1 receptors
- G alpha (i) signalling events
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- Pentostatin
- Dipyridamole
- FR221647
- 6-Hydroxy-7,8-Dihydro Purine Nucleoside
- FR117016
- FR236913
- 6-Hydroxy-1,6-Dihydro Purine Nucleoside
- FR233623
- FR239087
- FR230513
- 1-Deaza-Adenosine
- Nebularine
- (2S,3R)-3-(6-amino-9H-purin-9-yl)nonan-2-ol
- 1-((1R)-1-(HYDROXYMETHYL)-3-{6-[(3-PHENYLPROPANOYL)AMINO]-1H-INDOL-1-YL}PROPYL)-1H-IMIDAZOLE-4-CARBOXAMIDE
- 1-{(1R,2S)-2-HYDROXY-1-[2-(2-NAPHTHYLOXY)ETHYL]PROPYL}-1H-IMIDAZONE-4-CARBOXAMIDE
- 1-((1R,2S)-1-{2-[2-(4-CHLOROPHENYL)-1,3-BENZOXAZOL-7-YL]ETHYL}-2-HYDROXYPROPYL)-1H-IMIDAZOLE-4-CARBOXAMIDE
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- Caffeine
- Theophylline
- Adenosine
- Dyphylline
- Pentoxifylline
- Enprofylline
- Gabapentin
- Aminophylline
- Oxtriphylline
- Theobromine
- Defibrotide
- Tecadenoson
- Naxifylline
- Tonapofylline
- Rolofylline
|
- T-B-Severe combined immunodeficiencies (SCIDs), including the following four diseases: Adenosine deaminase (ADA) deficiency; Recombinase activating gene (RAG) deficiencies; Artemis deficiency; Reticular dysgenesis
|
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ADH1A and HADH |
alcohol dehydrogenase 1A (class I), alpha polypeptide |
hydroxyacyl-CoA dehydrogenase |
- Abacavir metabolism
- RA biosynthesis pathway
- Ethanol oxidation
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- Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA
- Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA
- Beta oxidation of octanoyl-CoA to hexanoyl-CoA
- Beta oxidation of hexanoyl-CoA to butanoyl-CoA
- Beta oxidation of butanoyl-CoA to acetyl-CoA
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- NADH
- Fomepizole
- 4-Iodopyrazole
- N-Cyclopentyl-N-Cyclobutylformamide
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- NADH
- Acetoacetyl-CoA
- 3-Hydroxybutyryl-Coenzyme A
|
|
- Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D); Complex II deficiency (MT-C2D); Complex III deficiency (MT-C3D); Complex IV deficiency (MT-C4D); Complex V deficiency (MT-ATPSD); Leigh syndrome (LS); Kearns-Sayre Syndrome (KSS); LCHD deficiency (LCHD); Leber Hereditary Optic Neuropathy (LHON); Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); NARP; MELAS; ACAD9 deficiency; HADH deficiency; HIBCH deficiency; GRACILE syndrome
|
ADH5 and SLC66A2 |
alcohol dehydrogenase 5 (class III), chi polypeptide |
solute carrier family 66 member 2 |
|
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- NADH
- Lauric Acid
- 12-Hydroxydodecanoic Acid
- S-Hydroxymethyl Glutathione
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|
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ADH5 and ARNT |
alcohol dehydrogenase 5 (class III), chi polypeptide |
aryl hydrocarbon receptor nuclear translocator |
|
- Regulation of gene expression by Hypoxia-inducible Factor
- PPARA activates gene expression
- Phase I - Functionalization of compounds
- Endogenous sterols
- Xenobiotics
- Aryl hydrocarbon receptor signalling
|
- NADH
- Lauric Acid
- 12-Hydroxydodecanoic Acid
- S-Hydroxymethyl Glutathione
|
|
|
|
ADH5 and VTN |
alcohol dehydrogenase 5 (class III), chi polypeptide |
vitronectin |
|
- Molecules associated with elastic fibres
- Integrin cell surface interactions
- Syndecan interactions
- ECM proteoglycans
- ECM proteoglycans
- Regulation of Complement cascade
|
- NADH
- Lauric Acid
- 12-Hydroxydodecanoic Acid
- S-Hydroxymethyl Glutathione
|
|
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