GLUL and MT-ND5 |
glutamate-ammonia ligase |
NADH dehydrogenase, subunit 5 (complex I) |
- Astrocytic Glutamate-Glutamine Uptake And Metabolism
- Glutamate and glutamine metabolism
|
- Respiratory electron transport
- Complex I biogenesis
|
- L-Glutamine
- Glutamic Acid
|
|
- Congenital systemic glutamine deficiency (CSGD); Glutamine synthetase deficiency
|
- Leber optic atrophy; Leber hereditary optic atrophy (LHON)
|
GOLGA2 and NDUFA5 |
golgin A2 |
NADH:ubiquinone oxidoreductase subunit A5 |
- Golgi Cisternae Pericentriolar Stack Reorganization
- Golgi Cisternae Pericentriolar Stack Reorganization
- COPII-mediated vesicle transport
- COPI-mediated anterograde transport
- Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
|
- Respiratory electron transport
- Complex I biogenesis
|
|
|
|
|
GPX1 and UQCRC1 |
glutathione peroxidase 1 |
ubiquinol-cytochrome c reductase core protein 1 |
- Synthesis of 5-eicosatetraenoic acids
- Synthesis of 12-eicosatetraenoic acid derivatives
- Synthesis of 15-eicosatetraenoic acid derivatives
- Detoxification of Reactive Oxygen Species
- Purine catabolism
|
- 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
|
- Anemia due to disorders of glutathione metabolism, including: Glucose-6-phosphate dehydrogenase (G6PD) deficiency; Glutathione peroxidase (GPX) deficiency; Gamma-glutamylcysteine synthetase (GCLC) deficiency; Glutathione synthetase (GSS) deficiency
|
|
GRB2 and MT-ND4 |
growth factor receptor bound protein 2 |
NADH dehydrogenase, subunit 4 (complex I) |
- Interleukin-15 signaling
- Interleukin-15 signaling
|
- Respiratory electron transport
- Complex I biogenesis
|
- Pegademase bovine
- 4-[(10s,14s,18s)-18-(2-Amino-2-Oxoethyl)-14-(1-Naphthylmethyl)-8,17,20-Trioxo-7,16,19-Triazaspiro[5.14]Icos-11-En-10-Yl]Benzylphosphonic Acid
|
|
|
- Leber optic atrophy; Leber hereditary optic atrophy (LHON)
|
GRN and RAC1 |
granulin precursor |
Rac family small GTPase 1 |
|
- 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
|
|
- Dextromethorphan
- Azathioprine
- Guanosine-5'-Diphosphate
|
- Frontotemporal lobar degeneration (FTLD), including: Pick disease of brain; Frontotemporal dementia (FTD); Ubiquitin-positive frontotemporal dementia (UP-FTD); Progressive supranuclear palsy type 1 (PSNP1); Inclusion body myopathy with early-onset paget disease and frontotemporal dementia (IBMPFD); Frontotemporal dementia, chromosome 3-linked (FTD3)
|
|
HCK and LMNA |
HCK proto-oncogene, Src family tyrosine kinase |
lamin A/C |
- 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
|
- XBP1(S) activates chaperone genes
- Signaling by BRAF and RAF fusions
|
- 1-Ter-Butyl-3-P-Tolyl-1h-Pyrazolo[3,4-D]Pyrimidin-4-Ylamine
- Phosphonotyrosine
- Quercetin
- Bosutinib
|
|
|
- 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
|
HNRNPD and UQCRC1 |
heterogeneous nuclear ribonucleoprotein D |
ubiquinol-cytochrome c reductase core protein 1 |
- mRNA Splicing - Major Pathway
- Processing of Capped Intron-Containing Pre-mRNA
|
- 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
|
|
|
TMCC1 and ACAD9 |
transmembrane and coiled-coil domain family 1 |
acyl-CoA dehydrogenase family member 9 |
|
|
|
|
|
- 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
|
HSPA8 and CYCS |
heat shock protein family A (Hsp70) member 8 |
cytochrome c, somatic |
- Regulation of HSF1-mediated heat shock response
- HSP90 chaperone cycle for steroid hormone receptors (SHR)
- Attenuation phase
- HSF1-dependent transactivation
- Lysosome Vesicle Biogenesis
- Golgi Associated Vesicle Biogenesis
- CHL1 interactions
- AUF1 (hnRNP D0) binds and destabilizes mRNA
- Interleukin-4 and Interleukin-13 signaling
- Neutrophil degranulation
- mRNA Splicing - Major Pathway
- Clathrin-mediated endocytosis
- Protein methylation
- GABA synthesis, release, reuptake and degradation
- Lipophagy
- Chaperone Mediated Autophagy
- Late endosomal microautophagy
|
- 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
|
- Dasatinib
- (2R,3R,4S,5R)-2-[6-amino-8-[(3,4-dichlorophenyl)methylamino]purin-9-yl]-5-(hydroxymethyl)oxolane-3,4-diol
- Copper
- Artenimol
|
- Minocycline
- Protoporphyrin Ix Containing Co
- Heme C
- Imidazole
- Protoporphyrin Ix Containing Zn
- N-Trimethyllysine
- Zinc Substituted Heme C
|
|
- Thrombocytopenia (THC); Familial platelet disorder with associated myeloid malignancy (FPDMM)
|
HSPB1 and CYCS |
heat shock protein family B (small) member 1 |
cytochrome c, somatic |
- VEGFA-VEGFR2 Pathway
- AUF1 (hnRNP D0) binds and destabilizes mRNA
- MAPK6/MAPK4 signaling
- Extra-nuclear estrogen signaling
|
- 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
|
- Apatorsen
- Phenethyl Isothiocyanate
|
- Minocycline
- Protoporphyrin Ix Containing Co
- Heme C
- Imidazole
- Protoporphyrin Ix Containing Zn
- N-Trimethyllysine
- Zinc Substituted Heme C
|
- Distal hereditary motor neuropathies (dHMN)
|
- Thrombocytopenia (THC); Familial platelet disorder with associated myeloid malignancy (FPDMM)
|
HSPB2 and NDUFA13 |
heat shock protein family B (small) member 2 |
NADH:ubiquinone oxidoreductase subunit A13 |
|
- Respiratory electron transport
- Complex I biogenesis
|
|
|
|
|
HSPB2 and MT-CO1 |
heat shock protein family B (small) member 2 |
cytochrome c oxidase subunit I |
|
- TP53 Regulates Metabolic Genes
- Respiratory electron transport
|
|
- Cholic Acid
- N-Formylmethionine
- Oxygen
|
|
- Leber optic atrophy; Leber hereditary optic atrophy (LHON)
|
HSPB2 and MT-CO3 |
heat shock protein family B (small) member 2 |
cytochrome c oxidase III |
|
- TP53 Regulates Metabolic Genes
- Respiratory electron transport
|
|
- Cholic Acid
- N-Formylmethionine
|
|
- Leber optic atrophy; Leber hereditary optic atrophy (LHON)
|
HSPB2 and NDUFA6 |
heat shock protein family B (small) member 2 |
NADH:ubiquinone oxidoreductase subunit A6 |
|
- Respiratory electron transport
- Complex I biogenesis
|
|
|
|
|
HSPB2 and MT-CO2 |
heat shock protein family B (small) member 2 |
cytochrome c oxidase subunit II |
|
- TP53 Regulates Metabolic Genes
- Respiratory electron transport
|
|
- Cholic Acid
- N-Formylmethionine
- Talmapimod
|
|
|
HTR2A and NDUFB10 |
5-hydroxytryptamine receptor 2A |
NADH:ubiquinone oxidoreductase subunit B10 |
- Serotonin receptors
- G alpha (q) signalling events
|
- Respiratory electron transport
- Complex I biogenesis
|
- Ziprasidone
- Methysergide
- Cabergoline
- Ropinirole
- Amitriptyline
- Olanzapine
- Clozapine
- Mirtazapine
- Loxapine
- Remoxipride
- Pramipexole
- Promazine
- Cyproheptadine
- Imipramine
- Chlorpromazine
- Chlorpromazine
- Haloperidol
- Nortriptyline
- Amoxapine
- Fenfluramine
- Lisuride
- Cisapride
- Fluphenazine
- Trazodone
- Thioridazine
- Ergotamine
- Apomorphine
- Paroxetine
- Trimipramine
- Risperidone
- Epinastine
- Propiomazine
- Minaprine
- Donepezil
- Flupentixol
- Cyclobenzaprine
- Mesoridazine
- Maprotiline
- Ergoloid mesylate
- Promethazine
- Tegaserod
- Doxepin
- Nefazodone
- Desipramine
- Pergolide
- Bromocriptine
- Ketamine
- Quetiapine
- Aripiprazole
- Chlorprothixene
- Clomipramine
- Paliperidone
- Yohimbine
- Methotrimeprazine
- MMDA
- Midomafetamine
- Dimethyltryptamine
- 4-Bromo-2,5-dimethoxyphenethylamine
- Acepromazine
- Molindone
- Pipotiazine
- Thioproperazine
- Thiothixene
- Zuclopenthixol
- Aniracetam
- Fluspirilene
- Flibanserin
- Iloperidone
- HY10275
- APD791
- Pimavanserin
- Epicept NP-1
- BL-1020
- Cariprazine
- Lumateperone
- Sertindole
- Mianserin
- Asenapine
- Amisulpride
- Deramciclane
- Esmirtazapine
- Cinitapride
- Lurasidone
- Perospirone
- Amperozide
- Butriptyline
- Brexpiprazole
- Dosulepin
- Etoperidone
- Setiptiline
- Sarpogrelate
- Ketanserin
- Nelotanserin
- Ritanserin
- Tiapride
|
|
|
|
INS and INSR |
insulin |
insulin receptor |
- Regulation of gene expression in beta cells
- Insulin processing
- Insulin processing
- Synthesis, secretion, and deacylation of Ghrelin
- Regulation of insulin secretion
- COPI-mediated anterograde transport
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- IRS activation
- Signal attenuation
- Insulin receptor signalling cascade
- Signaling by Insulin receptor
- Insulin receptor recycling
- FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
- FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
- Amyloid fiber formation
|
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- IRS activation
- Signal attenuation
- Insulin receptor signalling cascade
- Signaling by Insulin receptor
- Insulin receptor recycling
|
- Zinc
- M-Cresol
- Myristic acid
|
- 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
|
- Maturity onset diabetes of the young (MODY)
- Type I diabetes mellitus
- Permanent neonatal diabetes mellitus (PNDM)
|
- Rabson-Mendenhall syndrome
- Leprechaunism ; Donohue syndrome
|
KCNMB1 and MT-CO1 |
potassium calcium-activated channel subfamily M regulatory beta subunit 1 |
cytochrome c oxidase subunit I |
- Ca2+ activated K+ channels
- cGMP effects
|
- TP53 Regulates Metabolic Genes
- Respiratory electron transport
|
- Procaine
- Miconazole
- Trimebutine
|
- Cholic Acid
- N-Formylmethionine
- Oxygen
|
|
- Leber optic atrophy; Leber hereditary optic atrophy (LHON)
|
KRAS and MT-CO3 |
KRAS proto-oncogene, GTPase |
cytochrome c oxidase III |
- Signaling by moderate kinase activity BRAF mutants
- Paradoxical activation of RAF signaling by kinase inactive BRAF
- RUNX3 regulates p14-ARF
- RAS GTPase cycle mutants
- Signaling downstream of RAS mutants
|
- TP53 Regulates Metabolic Genes
- Respiratory electron transport
|
- [(3,7,11-TRIMETHYL-DODECA-2,6,10-TRIENYLOXYCARBAMOYL)-METHYL]-PHOSPHONIC ACID
- FARNESYL DIPHOSPHATE
|
- Cholic Acid
- N-Formylmethionine
|
- Craniosynostosis, including: Pfeiffer syndrome; Apert syndrome; Crouzon syndrome; Jackson-Weiss syndrome; Beare-Stevenson syndrome; Muenke craniosynostosis; Saethre-Chotzen syndrome; Craniosynostosis Boston type; Antley-Bixler syndrome; Carpenter syndrome; Craniofrontonasal dysplasia; Noonan syndrome; Baller-Gerold syndrome
- Pancreatic cancer
- Gastric cancer
- Colorectal cancer
- Non-small cell lung cancer
- Noonan syndrome and related disorders, including: Noonan syndrome (NS); Leopard syndrome (LS); Noonan syndrome-like with loose anagen hair (NS/LAH); CBL-mutation associated syndrome (CBL); Neurofibromatosis type 1 (NF1); Neurofibromatosis type 2 (NF2); Neurofibromatosis-Noonan syndrome (NFNS); Legius syndrome; Cardiofaciocutaneous syndrome (CFCS); Costello syndrome (CS)
- Oral cancer
- Acute myeloid leukemia (AML)
- Endometrial Cancer
- Multiple myeloma
- Squamous cell carcinoma
- Kaposi's sarcoma
- Cholangiocarcinoma
- Thyroid cancer
- Cervical cancer
- Hepatocellular carcinoma
- Ovarian cancer
- Gallbladder cancer
|
- Leber optic atrophy; Leber hereditary optic atrophy (LHON)
|
KRAS and MT-CYB |
KRAS proto-oncogene, GTPase |
cytochrome b |
- Signaling by moderate kinase activity BRAF mutants
- Paradoxical activation of RAF signaling by kinase inactive BRAF
- RUNX3 regulates p14-ARF
- RAS GTPase cycle mutants
- Signaling downstream of RAS mutants
|
- Respiratory electron transport
|
- [(3,7,11-TRIMETHYL-DODECA-2,6,10-TRIENYLOXYCARBAMOYL)-METHYL]-PHOSPHONIC ACID
- FARNESYL DIPHOSPHATE
|
- 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
|
- Craniosynostosis, including: Pfeiffer syndrome; Apert syndrome; Crouzon syndrome; Jackson-Weiss syndrome; Beare-Stevenson syndrome; Muenke craniosynostosis; Saethre-Chotzen syndrome; Craniosynostosis Boston type; Antley-Bixler syndrome; Carpenter syndrome; Craniofrontonasal dysplasia; Noonan syndrome; Baller-Gerold syndrome
- Pancreatic cancer
- Gastric cancer
- Colorectal cancer
- Non-small cell lung cancer
- Noonan syndrome and related disorders, including: Noonan syndrome (NS); Leopard syndrome (LS); Noonan syndrome-like with loose anagen hair (NS/LAH); CBL-mutation associated syndrome (CBL); Neurofibromatosis type 1 (NF1); Neurofibromatosis type 2 (NF2); Neurofibromatosis-Noonan syndrome (NFNS); Legius syndrome; Cardiofaciocutaneous syndrome (CFCS); Costello syndrome (CS)
- Oral cancer
- Acute myeloid leukemia (AML)
- Endometrial Cancer
- Multiple myeloma
- Squamous cell carcinoma
- Kaposi's sarcoma
- Cholangiocarcinoma
- Thyroid cancer
- Cervical cancer
- Hepatocellular carcinoma
- Ovarian cancer
- Gallbladder cancer
|
- Leber optic atrophy; Leber hereditary optic atrophy (LHON)
|