BCL2L1 and CYCS |
BCL2 like 1 |
cytochrome c, somatic |
- BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
- Interleukin-4 and Interleukin-13 signaling
- The NLRP1 inflammasome
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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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- 4'-FLUORO-1,1'-BIPHENYL-4-CARBOXYLIC ACID
- Gossypol
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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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BCR and RAC1 |
BCR activator of RhoGEF and GTPase |
Rac family small GTPase 1 |
- Signaling by cytosolic FGFR1 fusion mutants
- Rho GTPase cycle
- Signaling by FGFR1 in disease
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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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- Dasatinib
- Bosutinib
- Ponatinib
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- Dextromethorphan
- Azathioprine
- Guanosine-5'-Diphosphate
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- Chronic myeloid leukemia (CML)
- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
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BCR and YWHAZ |
BCR activator of RhoGEF and GTPase |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta |
- Signaling by cytosolic FGFR1 fusion mutants
- Rho GTPase cycle
- Signaling by FGFR1 in disease
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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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- Dasatinib
- Bosutinib
- Ponatinib
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- Chronic myeloid leukemia (CML)
- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
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BCR and HCK |
BCR activator of RhoGEF and GTPase |
HCK proto-oncogene, Src family tyrosine kinase |
- Signaling by cytosolic FGFR1 fusion mutants
- Rho GTPase cycle
- Signaling by FGFR1 in disease
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- 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
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- Dasatinib
- Bosutinib
- Ponatinib
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- 1-Ter-Butyl-3-P-Tolyl-1h-Pyrazolo[3,4-D]Pyrimidin-4-Ylamine
- Phosphonotyrosine
- Quercetin
- Bosutinib
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- Chronic myeloid leukemia (CML)
- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
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BCS1L and CLK1 |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
CDC like kinase 1 |
- Mitochondrial protein import
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- Debromohymenialdisine
- ethyl 3-[(E)-2-amino-1-cyanoethenyl]-6,7-dichloro-1-methyl-1H-indole-2-carboxylate
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- Bjornstad syndrome
- 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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BCS1L and CD28 |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
CD28 molecule |
- Mitochondrial protein import
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- PIP3 activates AKT signaling
- Nef mediated downregulation of CD28 cell surface expression
- Constitutive Signaling by Aberrant PI3K in Cancer
- CD28 co-stimulation
- CD28 dependent PI3K/Akt signaling
- CD28 dependent Vav1 pathway
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
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- Bjornstad syndrome
- 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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BCS1L and MRPS12 |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
mitochondrial ribosomal protein S12 |
- Mitochondrial protein import
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- Mitochondrial translation initiation
- Mitochondrial translation elongation
- Mitochondrial translation elongation
- Mitochondrial translation termination
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- Bjornstad syndrome
- 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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BCS1L and ARHGAP18 |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
Rho GTPase activating protein 18 |
- Mitochondrial protein import
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- Bjornstad syndrome
- 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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BCS1L and ORC2 |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
origin recognition complex subunit 2 |
- Mitochondrial protein import
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- E2F-enabled inhibition of pre-replication complex formation
- Activation of ATR in response to replication stress
- Assembly of the ORC complex at the origin of replication
- CDC6 association with the ORC:origin complex
- CDT1 association with the CDC6:ORC:origin complex
- Assembly of the pre-replicative complex
- Orc1 removal from chromatin
- Activation of the pre-replicative complex
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- Bjornstad syndrome
- 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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BCS1L and RP9 |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
RP9 pre-mRNA splicing factor |
- Mitochondrial protein import
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- Bjornstad syndrome
- 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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BCS1L and CTLA4 |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
cytotoxic T-lymphocyte associated protein 4 |
- Mitochondrial protein import
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- CTLA4 inhibitory signaling
- RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)
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- Bjornstad syndrome
- 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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- Type I diabetes mellitus
- Graves' disease
- Allograft rejection
- Hashimoto's thyroiditis
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BCS1L and DNAJA1 |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
DnaJ heat shock protein family (Hsp40) member A1 |
- Mitochondrial protein import
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- HSP90 chaperone cycle for steroid hormone receptors (SHR)
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- Bjornstad syndrome
- 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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BCS1L and DDX24 |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
DEAD-box helicase 24 |
- Mitochondrial protein import
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- Bjornstad syndrome
- 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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BCS1L and RPE |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
ribulose-5-phosphate-3-epimerase |
- Mitochondrial protein import
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- Pentose phosphate pathway
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- Bjornstad syndrome
- 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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BCS1L and MTDH |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
metadherin |
- Mitochondrial protein import
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- Bjornstad syndrome
- 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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BCS1L and SLC29A1 |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
solute carrier family 29 member 1 (Augustine blood group) |
- Mitochondrial protein import
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- Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane
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- Bjornstad syndrome
- 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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BCS1L and WDFY1 |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
WD repeat and FYVE domain containing 1 |
- Mitochondrial protein import
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- Bjornstad syndrome
- 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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BNC1 and ETFA |
basonuclin 1 |
electron transfer flavoprotein subunit alpha |
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- Respiratory electron transport
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- Glutaric acidemia; Glutaric acidemia, type I (GA1); Glutaric acidemia, type II (GA2); Multiple acyl coenzyme A dehydrogenase deficiency
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BRCA1 and MT-ND1 |
BRCA1 DNA repair associated |
NADH dehydrogenase, subunit 1 (complex I) |
- Meiotic synapsis
- SUMOylation of DNA damage response and repair proteins
- HDR through Single Strand Annealing (SSA)
- HDR through Homologous Recombination (HRR)
- Metalloprotease DUBs
- Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Resolution of D-loop Structures through Holliday Junction Intermediates
- Nonhomologous End-Joining (NHEJ)
- Homologous DNA Pairing and Strand Exchange
- Processing of DNA double-strand break ends
- Presynaptic phase of homologous DNA pairing and strand exchange
- TP53 Regulates Transcription of DNA Repair Genes
- Regulation of TP53 Activity through Phosphorylation
- G2/M DNA damage checkpoint
- Transcriptional Regulation by E2F6
- Meiotic recombination
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- Respiratory electron transport
- Complex I biogenesis
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- NADH
- Methoxyflurane
- Halothane
- Desflurane
- Sevoflurane
- N-Formylmethionine
- Phenethyl Isothiocyanate
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- Breast cancer
- Ovarian cancer
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- Leber optic atrophy; Leber hereditary optic atrophy (LHON)
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CACNA1A and NDUFB8 |
calcium voltage-gated channel subunit alpha1 A |
NADH:ubiquinone oxidoreductase subunit B8 |
- Presynaptic depolarization and calcium channel opening
- Regulation of insulin secretion
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- Mitochondrial protein import
- Mitochondrial protein import
- Respiratory electron transport
- Complex I biogenesis
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- Pregabalin
- Spironolactone
- Verapamil
- Loperamide
- Bepridil
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- Episodic ataxias
- Familial or sporadic hemiplegic migraine
- Spinocerebellar ataxia (SCA); Machado-Joseph disease (SCA3)
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