MTUS2 and NUBPL |
microtubule associated scaffold protein 2 |
nucleotide binding protein like |
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- 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
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AGTPBP1 and CYCS |
ATP/GTP binding protein 1 |
cytochrome c, somatic |
- Carboxyterminal post-translational modifications of tubulin
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- Release of apoptotic factors from the mitochondria
- Formation of apoptosome
- Activation of caspases through apoptosome-mediated cleavage
- SMAC (DIABLO) binds to IAPs
- SMAC(DIABLO)-mediated dissociation of IAP:caspase complexes
- Transcriptional activation of mitochondrial biogenesis
- Detoxification of Reactive Oxygen Species
- TP53 Regulates Metabolic Genes
- Respiratory electron transport
- Regulation of the apoptosome activity
- Regulation of the apoptosome activity
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- Minocycline
- Protoporphyrin Ix Containing Co
- Heme C
- Imidazole
- Protoporphyrin Ix Containing Zn
- N-Trimethyllysine
- Zinc Substituted Heme C
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- Thrombocytopenia (THC); Familial platelet disorder with associated myeloid malignancy (FPDMM)
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NDUFAF3 and KRTAP10-3 |
NADH:ubiquinone oxidoreductase complex assembly factor 3 |
keratin associated protein 10-3 |
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- 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
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NDUFAF3 and LSM1 |
NADH:ubiquinone oxidoreductase complex assembly factor 3 |
LSM1 homolog, mRNA degradation associated |
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- mRNA decay by 5' to 3' exoribonuclease
- mRNA decay by 5' to 3' exoribonuclease
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- 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
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NDUFAF2 and C5orf64 |
NADH:ubiquinone oxidoreductase complex assembly factor 2 |
chromosome 5 open reading frame 64 |
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- 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
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NDUFAF2 and ISCA1P1 |
NADH:ubiquinone oxidoreductase complex assembly factor 2 |
iron-sulfur cluster assembly 1 pseudogene 1 |
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- 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
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NOX1 and NOXO1 |
NADPH oxidase 1 |
NADPH oxidase organizer 1 |
- RHO GTPases Activate NADPH Oxidases
- WNT5:FZD7-mediated leishmania damping
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- RHO GTPases Activate NADPH Oxidases
- WNT5:FZD7-mediated leishmania damping
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NDOR1 and CYCS |
NADPH dependent diflavin oxidoreductase 1 |
cytochrome c, somatic |
- Cytosolic iron-sulfur cluster assembly
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- Release of apoptotic factors from the mitochondria
- Formation of apoptosome
- Activation of caspases through apoptosome-mediated cleavage
- SMAC (DIABLO) binds to IAPs
- SMAC(DIABLO)-mediated dissociation of IAP:caspase complexes
- Transcriptional activation of mitochondrial biogenesis
- Detoxification of Reactive Oxygen Species
- TP53 Regulates Metabolic Genes
- Respiratory electron transport
- Regulation of the apoptosome activity
- Regulation of the apoptosome activity
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- Minocycline
- Protoporphyrin Ix Containing Co
- Heme C
- Imidazole
- Protoporphyrin Ix Containing Zn
- N-Trimethyllysine
- Zinc Substituted Heme C
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- Thrombocytopenia (THC); Familial platelet disorder with associated myeloid malignancy (FPDMM)
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ACAD9 and SEC61A1 |
acyl-CoA dehydrogenase family member 9 |
SEC61 translocon subunit alpha 1 |
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- ER-Phagosome pathway
- SRP-dependent cotranslational protein targeting to membrane
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- 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
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ACAD9 and HMCES |
acyl-CoA dehydrogenase family member 9 |
5-hydroxymethylcytosine binding, ES cell specific |
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- 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
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ACAD9 and ISY1 |
acyl-CoA dehydrogenase family member 9 |
ISY1 splicing factor homolog |
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- 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
- mRNA Splicing - Major Pathway
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- 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
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CHMP4A and TTC19 |
charged multivesicular body protein 4A |
tetratricopeptide repeat domain 19 |
- Budding and maturation of HIV virion
- Macroautophagy
- Endosomal Sorting Complex Required For Transport (ESCRT)
- HCMV Late Events
- Late endosomal microautophagy
- Sealing of the nuclear envelope (NE) by ESCRT-III
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SLC30A5 and NDUFAF2 |
solute carrier family 30 member 5 |
NADH:ubiquinone oxidoreductase complex assembly factor 2 |
- Insulin processing
- Zinc efflux and compartmentalization by the SLC30 family
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- 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
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A2M and ECSIT |
alpha-2-macroglobulin |
ECSIT signaling integrator |
- Platelet degranulation
- Intrinsic Pathway of Fibrin Clot Formation
- Degradation of the extracellular matrix
- Rho GTPase cycle
- HDL assembly
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- MyD88:MAL(TIRAP) cascade initiated on plasma membrane
- Complex I biogenesis
- TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation
- MyD88 cascade initiated on plasma membrane
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- Becaplermin
- Cisplatin
- Bacitracin
- Zinc
- Ocriplasmin
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A2M and RAB3A |
alpha-2-macroglobulin |
RAB3A, member RAS oncogene family |
- Platelet degranulation
- Intrinsic Pathway of Fibrin Clot Formation
- Degradation of the extracellular matrix
- Rho GTPase cycle
- HDL assembly
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- Serotonin Neurotransmitter Release Cycle
- Norepinephrine Neurotransmitter Release Cycle
- Glutamate Neurotransmitter Release Cycle
- Dopamine Neurotransmitter Release Cycle
- Acetylcholine Neurotransmitter Release Cycle
- Neutrophil degranulation
- RAB geranylgeranylation
- RAB GEFs exchange GTP for GDP on RABs
- GABA synthesis, release, reuptake and degradation
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- Becaplermin
- Cisplatin
- Bacitracin
- Zinc
- Ocriplasmin
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A2M and PRDX2 |
alpha-2-macroglobulin |
peroxiredoxin 2 |
- Platelet degranulation
- Intrinsic Pathway of Fibrin Clot Formation
- Degradation of the extracellular matrix
- Rho GTPase cycle
- HDL assembly
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- Detoxification of Reactive Oxygen Species
- TP53 Regulates Metabolic Genes
- Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
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- Becaplermin
- Cisplatin
- Bacitracin
- Zinc
- Ocriplasmin
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- 3-Sulfinoalanine
- N-Carbamoyl-Alanine
- Copper
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AANAT and YWHAZ |
aralkylamine N-acetyltransferase |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta |
- Serotonin and melatonin biosynthesis
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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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- Coa-S-Trimethylene-Acetyl-Tryptamine
- Coa-S-Acetyl Tryptamine
- Coa-S-Acetyl 5-Bromotryptamine
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- Delayed sleep phase syndrome
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ABAT and ALDH5A1 |
4-aminobutyrate aminotransferase |
aldehyde dehydrogenase 5 family member A1 |
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- Pyridoxal Phosphate
- Pyruvic acid
- Glutamic Acid
- L-Alanine
- Valproic Acid
- Phenelzine
- Vigabatrin
- (4e)-4-Aminohex-4-Enoic Acid
- 4-Amino Hexanoic Acid
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- Succinic acid
- NADH
- Valproic Acid
- Chlormerodrin
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- Succinic semialdehyde dehydrogenase (SSADH) deficiency; 4-Hydroxybutyric aciduria (4-HBA)
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ABL1 and BCR |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
BCR activator of RhoGEF and GTPase |
- 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
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- Signaling by cytosolic FGFR1 fusion mutants
- Rho GTPase cycle
- Signaling by FGFR1 in disease
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- 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
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- Dasatinib
- Bosutinib
- Ponatinib
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- Chronic myeloid leukemia (CML)
- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
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- Chronic myeloid leukemia (CML)
- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
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ABL1 and YWHAZ |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta |
- 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
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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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- 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
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- Chronic myeloid leukemia (CML)
- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
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