MT-ND1 and NDUFS7 |
NADH dehydrogenase, subunit 1 (complex I) |
NADH:ubiquinone oxidoreductase core subunit S7 |
- Respiratory electron transport
- Complex I biogenesis
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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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- Leber optic atrophy; Leber hereditary optic atrophy (LHON)
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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
|
COX4I1 and MT-CO1 |
cytochrome c oxidase subunit 4I1 |
cytochrome c oxidase subunit I |
- TP53 Regulates Metabolic Genes
- Respiratory electron transport
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- TP53 Regulates Metabolic Genes
- Respiratory electron transport
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- Cholic Acid
- N-Formylmethionine
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- Cholic Acid
- N-Formylmethionine
- Oxygen
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- Leber optic atrophy; Leber hereditary optic atrophy (LHON)
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COX7C and ETFA |
cytochrome c oxidase subunit 7C |
electron transfer flavoprotein subunit alpha |
- TP53 Regulates Metabolic Genes
- Respiratory electron transport
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- Respiratory electron transport
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- Cholic Acid
- N-Formylmethionine
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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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CYC1 and UQCRFS1 |
cytochrome c1 |
ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 |
- Mitochondrial protein import
- Respiratory electron transport
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- Respiratory electron transport
|
- 2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol
- 5-n-undecyl-6-hydroxy-4,7-dioxobenzothiazole
- METHYL (2Z)-2-(2-{[6-(2-CYANOPHENOXY)PYRIMIDIN-4-YL]OXY}PHENYL)-3-METHOXYACRYLATE
- 5-HEPTYL-6-HYDROXY-1,3-BENZOTHIAZOLE-4,7-DIONE
- (5S)-3-ANILINO-5-(2,4-DIFLUOROPHENYL)-5-METHYL-1,3-OXAZOLIDINE-2,4-DIONE
- FAMOXADONE
- METHYL (2Z)-3-METHOXY-2-{2-[(E)-2-PHENYLVINYL]PHENYL}ACRYLATE
- 2-NONYL-4-HYDROXYQUINOLINE N-OXIDE
- UBIQUINONE-2
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- 2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol
- 5-n-undecyl-6-hydroxy-4,7-dioxobenzothiazole
- METHYL (2Z)-2-(2-{[6-(2-CYANOPHENOXY)PYRIMIDIN-4-YL]OXY}PHENYL)-3-METHOXYACRYLATE
- 5-HEPTYL-6-HYDROXY-1,3-BENZOTHIAZOLE-4,7-DIONE
- (5S)-3-ANILINO-5-(2,4-DIFLUOROPHENYL)-5-METHYL-1,3-OXAZOLIDINE-2,4-DIONE
- FAMOXADONE
- METHYL (2Z)-3-METHOXY-2-{2-[(E)-2-PHENYLVINYL]PHENYL}ACRYLATE
- 2-NONYL-4-HYDROXYQUINOLINE N-OXIDE
- UBIQUINONE-2
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CYC1 and CYCS |
cytochrome c1 |
cytochrome c, somatic |
- Mitochondrial protein import
- Respiratory electron transport
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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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- 2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol
- 5-n-undecyl-6-hydroxy-4,7-dioxobenzothiazole
- METHYL (2Z)-2-(2-{[6-(2-CYANOPHENOXY)PYRIMIDIN-4-YL]OXY}PHENYL)-3-METHOXYACRYLATE
- 5-HEPTYL-6-HYDROXY-1,3-BENZOTHIAZOLE-4,7-DIONE
- (5S)-3-ANILINO-5-(2,4-DIFLUOROPHENYL)-5-METHYL-1,3-OXAZOLIDINE-2,4-DIONE
- FAMOXADONE
- METHYL (2Z)-3-METHOXY-2-{2-[(E)-2-PHENYLVINYL]PHENYL}ACRYLATE
- 2-NONYL-4-HYDROXYQUINOLINE N-OXIDE
- UBIQUINONE-2
|
- 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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ETFA and ETFB |
electron transfer flavoprotein subunit alpha |
electron transfer flavoprotein subunit beta |
- Respiratory electron transport
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- Respiratory electron transport
- Protein methylation
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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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- Glutaric acidemia; Glutaric acidemia, type I (GA1); Glutaric acidemia, type II (GA2); Multiple acyl coenzyme A dehydrogenase deficiency
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MT-CO1 and COX5A |
cytochrome c oxidase subunit I |
cytochrome c oxidase subunit 5A |
- TP53 Regulates Metabolic Genes
- Respiratory electron transport
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- TP53 Regulates Metabolic Genes
- Respiratory electron transport
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- Cholic Acid
- N-Formylmethionine
- Oxygen
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- Cholic Acid
- N-Formylmethionine
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- Leber optic atrophy; Leber hereditary optic atrophy (LHON)
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NDUFA5 and NDUFB1 |
NADH:ubiquinone oxidoreductase subunit A5 |
NADH:ubiquinone oxidoreductase subunit B1 |
- Respiratory electron transport
- Complex I biogenesis
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- Respiratory electron transport
- Complex I biogenesis
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UQCRC1 and CYCS |
ubiquinol-cytochrome c reductase core protein 1 |
cytochrome c, somatic |
- Respiratory electron transport
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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
|
- 2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol
- Myxothiazol
- 5-n-undecyl-6-hydroxy-4,7-dioxobenzothiazole
- METHYL (2Z)-2-(2-{[6-(2-CYANOPHENOXY)PYRIMIDIN-4-YL]OXY}PHENYL)-3-METHOXYACRYLATE
- (5S)-3-ANILINO-5-(2,4-DIFLUOROPHENYL)-5-METHYL-1,3-OXAZOLIDINE-2,4-DIONE
- FAMOXADONE
- METHYL (2Z)-3-METHOXY-2-{2-[(E)-2-PHENYLVINYL]PHENYL}ACRYLATE
- 2-NONYL-4-HYDROXYQUINOLINE N-OXIDE
- UBIQUINONE-2
|
- 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)
|
UQCRC1 and UQCRC2 |
ubiquinol-cytochrome c reductase core protein 1 |
ubiquinol-cytochrome c reductase core protein 2 |
- Respiratory electron transport
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- Respiratory electron transport
|
- 2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol
- Myxothiazol
- 5-n-undecyl-6-hydroxy-4,7-dioxobenzothiazole
- METHYL (2Z)-2-(2-{[6-(2-CYANOPHENOXY)PYRIMIDIN-4-YL]OXY}PHENYL)-3-METHOXYACRYLATE
- (5S)-3-ANILINO-5-(2,4-DIFLUOROPHENYL)-5-METHYL-1,3-OXAZOLIDINE-2,4-DIONE
- FAMOXADONE
- METHYL (2Z)-3-METHOXY-2-{2-[(E)-2-PHENYLVINYL]PHENYL}ACRYLATE
- 2-NONYL-4-HYDROXYQUINOLINE N-OXIDE
- UBIQUINONE-2
|
- 2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol
- 5-n-undecyl-6-hydroxy-4,7-dioxobenzothiazole
- METHYL (2Z)-2-(2-{[6-(2-CYANOPHENOXY)PYRIMIDIN-4-YL]OXY}PHENYL)-3-METHOXYACRYLATE
- (5S)-3-ANILINO-5-(2,4-DIFLUOROPHENYL)-5-METHYL-1,3-OXAZOLIDINE-2,4-DIONE
- FAMOXADONE
- METHYL (2Z)-3-METHOXY-2-{2-[(E)-2-PHENYLVINYL]PHENYL}ACRYLATE
- 2-NONYL-4-HYDROXYQUINOLINE N-OXIDE
- UBIQUINONE-2
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NDUFAF3 and NDUFAF4 |
NADH:ubiquinone oxidoreductase complex assembly factor 3 |
NADH:ubiquinone oxidoreductase complex assembly factor 4 |
|
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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
|
- 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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APP and NDUFS2 |
amyloid beta precursor protein |
NADH:ubiquinone oxidoreductase core subunit S2 |
- Platelet degranulation
- ECM proteoglycans
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- G alpha (q) signalling events
- G alpha (i) signalling events
- Lysosome Vesicle Biogenesis
- Formyl peptide receptors bind formyl peptides and many other ligands
- TAK1 activates NFkB by phosphorylation and activation of IKKs complex
- The NLRP3 inflammasome
- Advanced glycosylation endproduct receptor signaling
- Advanced glycosylation endproduct receptor signaling
- Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
- Post-translational protein phosphorylation
- TRAF6 mediated NF-kB activation
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
- Purinergic signaling in leishmaniasis infection
- Amyloid fiber formation
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- Respiratory electron transport
- Complex I biogenesis
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- Deferoxamine
- Aluminium
- Zinc
- L-methionine (R)-S-oxide
- Resveratrol
- Phenserine
- Tiomolibdate ion
- CAD106
- Mito-4509
- Dimercaprol
- Copper
- Florbetaben (18F)
- Florbetapir (18F)
- Flutemetamol (18F)
|
|
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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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APP and NDUFS4 |
amyloid beta precursor protein |
NADH:ubiquinone oxidoreductase subunit S4 |
- Platelet degranulation
- ECM proteoglycans
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- G alpha (q) signalling events
- G alpha (i) signalling events
- Lysosome Vesicle Biogenesis
- Formyl peptide receptors bind formyl peptides and many other ligands
- TAK1 activates NFkB by phosphorylation and activation of IKKs complex
- The NLRP3 inflammasome
- Advanced glycosylation endproduct receptor signaling
- Advanced glycosylation endproduct receptor signaling
- Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
- Post-translational protein phosphorylation
- TRAF6 mediated NF-kB activation
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
- Purinergic signaling in leishmaniasis infection
- Amyloid fiber formation
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- Respiratory electron transport
- Complex I biogenesis
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- Deferoxamine
- Aluminium
- Zinc
- L-methionine (R)-S-oxide
- Resveratrol
- Phenserine
- Tiomolibdate ion
- CAD106
- Mito-4509
- Dimercaprol
- Copper
- Florbetaben (18F)
- Florbetapir (18F)
- Flutemetamol (18F)
|
|
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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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ARRB2 and NDUFS7 |
arrestin beta 2 |
NADH:ubiquinone oxidoreductase core subunit S7 |
- Activated NOTCH1 Transmits Signal to the Nucleus
- G alpha (s) signalling events
- Thrombin signalling through proteinase activated receptors (PARs)
- WNT5A-dependent internalization of FZD4
- Activation of SMO
- Activation of SMO
- MAP2K and MAPK activation
- Ub-specific processing proteases
- 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
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- Signaling downstream of RAS mutants
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- Respiratory electron transport
- Complex I biogenesis
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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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CASP3 and NDUFS1 |
caspase 3 |
NADH:ubiquinone oxidoreductase core subunit S1 |
- Activation of caspases through apoptosome-mediated cleavage
- SMAC (DIABLO) binds to IAPs
- SMAC(DIABLO)-mediated dissociation of IAP:caspase complexes
- Apoptotic cleavage of cellular proteins
- SMAC, XIAP-regulated apoptotic response
- Apoptosis induced DNA fragmentation
- Degradation of the extracellular matrix
- Signaling by Hippo
- NADE modulates death signalling
- Stimulation of the cell death response by PAK-2p34
- Caspase-mediated cleavage of cytoskeletal proteins
- Apoptotic cleavage of cell adhesion proteins
- Caspase activation via Dependence Receptors in the absence of ligand
- Caspase activation via Dependence Receptors in the absence of ligand
- Other interleukin signaling
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- Respiratory electron transport
- Complex I biogenesis
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- Minocycline
- 5-[4-(1-Carboxymethyl-2-Oxo-Propylcarbamoyl)-Benzylsulfamoyl]-2-Hydroxy-Benzoic Acid
- Emricasan
- 2-HYDROXY-5-(2-MERCAPTO-ETHYLSULFAMOYL)-BENZOIC ACID
- methyl (3S)-3-[(tert-butoxycarbonyl)amino]-4-oxopentanoate
- 1-METHYL-5-(2-PHENOXYMETHYL-PYRROLIDINE-1-SULFONYL)-1H-INDOLE-2,3-DIONE
- [N-(3-DIBENZYLCARBAMOYL-OXIRANECARBONYL)-HYDRAZINO]-ACETIC ACID
- 4-[5-(2-CARBOXY-1-FORMYL-ETHYLCARBAMOYL)-PYRIDIN-3-YL]-BENZOIC ACID
- (1S)-2-oxo-1-phenyl-2-[(1,3,4-trioxo-1,2,3,4-tetrahydroisoquinolin-5-yl)amino]ethyl acetate
- (1S)-1-(3-chlorophenyl)-2-oxo-2-[(1,3,4-trioxo-1,2,3,4-tetrahydroisoquinolin-5-yl)amino]ethyl acetate
- N-[3-(2-fluoroethoxy)phenyl]-N'-(1,3,4-trioxo-1,2,3,4-tetrahydroisoquinolin-6-yl)butanediamide
|
|
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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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ERCC8 and UQCRQ |
ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
ubiquinol-cytochrome c reductase complex III subunit VII |
- Formation of TC-NER Pre-Incision Complex
- Transcription-Coupled Nucleotide Excision Repair (TC-NER)
- Dual incision in TC-NER
- Gap-filling DNA repair synthesis and ligation in TC-NER
- Neddylation
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- Respiratory electron transport
|
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- 2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol
- 5-n-undecyl-6-hydroxy-4,7-dioxobenzothiazole
- METHYL (2Z)-2-(2-{[6-(2-CYANOPHENOXY)PYRIMIDIN-4-YL]OXY}PHENYL)-3-METHOXYACRYLATE
- (5S)-3-ANILINO-5-(2,4-DIFLUOROPHENYL)-5-METHYL-1,3-OXAZOLIDINE-2,4-DIONE
- FAMOXADONE
- METHYL (2Z)-3-METHOXY-2-{2-[(E)-2-PHENYLVINYL]PHENYL}ACRYLATE
- 2-NONYL-4-HYDROXYQUINOLINE N-OXIDE
- UBIQUINONE-2
|
- Disorders of nucleotide excision repair, including: Xeroderma pigmentosum (XP); Cockayne syndrome (CS); UV-sensitive syndrome (UVS); Trichothiodystrophy (TTD); Cerebro-oculo-facio-skeletal syndrome (COFS); XFE progeroid syndrome
- Cockayne syndrome
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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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CRMP1 and NDUFV2 |
collapsin response mediator protein 1 |
NADH:ubiquinone oxidoreductase core subunit V2 |
- CRMPs in Sema3A signaling
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- Respiratory electron transport
- Complex I biogenesis
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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
|
CSNK2B and SDHA |
casein kinase 2 beta |
succinate dehydrogenase complex flavoprotein subunit A |
- Synthesis of PC
- WNT mediated activation of DVL
- Condensation of Prometaphase Chromosomes
- Signal transduction by L1
- Neutrophil degranulation
- Regulation of TP53 Activity through Phosphorylation
- Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
- Receptor Mediated Mitophagy
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- Regulation of PTEN stability and activity
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- Respiratory electron transport
- Citric acid cycle (TCA cycle)
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- Succinic acid
- 2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol
- Carboxin
- Thenoyltrifluoroacetone
- UBIQUINONE-1
- Ubidecarenone
|
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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
- Diseases of the tricarboxylic acid cycle, including: Fumarase (FH) deficiency; Succinate dehydrogenase (SDH) deficiency; Alpha-ketoglutarate dehydrogenase (AKGDH) deficiency
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EGR2 and NDUFS2 |
early growth response 2 |
NADH:ubiquinone oxidoreductase core subunit S2 |
- Transcriptional regulation of white adipocyte differentiation
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- NGF-stimulated transcription
- NGF-stimulated transcription
- EGR2 and SOX10-mediated initiation of Schwann cell myelination
- EGR2 and SOX10-mediated initiation of Schwann cell myelination
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- Respiratory electron transport
- Complex I biogenesis
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- Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
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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
|
ENO2 and NDUFS7 |
enolase 2 |
NADH:ubiquinone oxidoreductase core subunit S7 |
- Glycolysis
- Gluconeogenesis
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- Respiratory electron transport
- Complex I biogenesis
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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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