COL6A1 and MTDH |
collagen type VI alpha 1 chain |
metadherin |
- Collagen degradation
- Collagen biosynthesis and modifying enzymes
- Signaling by PDGF
- Assembly of collagen fibrils and other multimeric structures
- Integrin cell surface interactions
- ECM proteoglycans
- ECM proteoglycans
- NCAM1 interactions
- Collagen chain trimerization
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- Ossification of the posterior longitudinal ligament of spine (OPLL)
- 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
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COL6A1 and MLLT3 |
collagen type VI alpha 1 chain |
MLLT3 super elongation complex subunit |
- Collagen degradation
- Collagen biosynthesis and modifying enzymes
- Signaling by PDGF
- Assembly of collagen fibrils and other multimeric structures
- Integrin cell surface interactions
- ECM proteoglycans
- ECM proteoglycans
- NCAM1 interactions
- Collagen chain trimerization
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- Formation of RNA Pol II elongation complex
- RNA Polymerase II Pre-transcription Events
- RNA Polymerase II Transcription Elongation
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- Ossification of the posterior longitudinal ligament of spine (OPLL)
- 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
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COL6A1 and PEX26 |
collagen type VI alpha 1 chain |
peroxisomal biogenesis factor 26 |
- Collagen degradation
- Collagen biosynthesis and modifying enzymes
- Signaling by PDGF
- Assembly of collagen fibrils and other multimeric structures
- Integrin cell surface interactions
- ECM proteoglycans
- ECM proteoglycans
- NCAM1 interactions
- Collagen chain trimerization
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- Peroxisomal protein import
- Peroxisomal protein import
- Class I peroxisomal membrane protein import
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- Ossification of the posterior longitudinal ligament of spine (OPLL)
- 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
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- Zellweger syndrome spectrum, including: Zellweger syndrome (ZS); Adrenoleukodystrophy, neonatal (NALD); Infantile Refsum disease (IRD)
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COL6A1 and LGALS3BP |
collagen type VI alpha 1 chain |
galectin 3 binding protein |
- Collagen degradation
- Collagen biosynthesis and modifying enzymes
- Signaling by PDGF
- Assembly of collagen fibrils and other multimeric structures
- Integrin cell surface interactions
- ECM proteoglycans
- ECM proteoglycans
- NCAM1 interactions
- Collagen chain trimerization
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- Ossification of the posterior longitudinal ligament of spine (OPLL)
- 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
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COL6A1 and PCNT |
collagen type VI alpha 1 chain |
pericentrin |
- Collagen degradation
- Collagen biosynthesis and modifying enzymes
- Signaling by PDGF
- Assembly of collagen fibrils and other multimeric structures
- Integrin cell surface interactions
- ECM proteoglycans
- ECM proteoglycans
- NCAM1 interactions
- Collagen chain trimerization
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- Regulation of PLK1 Activity at G2/M Transition
- Loss of Nlp from mitotic centrosomes
- Recruitment of mitotic centrosome proteins and complexes
- Loss of proteins required for interphase microtubule organization from the centrosome
- Recruitment of NuMA to mitotic centrosomes
- Anchoring of the basal body to the plasma membrane
- AURKA Activation by TPX2
- Chaperone Mediated Autophagy
- Late endosomal microautophagy
- Aggrephagy
- Aggrephagy
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- Ossification of the posterior longitudinal ligament of spine (OPLL)
- 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
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- Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II)
- Seckel syndrome
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COL6A2 and FN1 |
collagen type VI alpha 2 chain |
fibronectin 1 |
- Collagen degradation
- Collagen biosynthesis and modifying enzymes
- Signaling by PDGF
- Assembly of collagen fibrils and other multimeric structures
- Integrin cell surface interactions
- ECM proteoglycans
- ECM proteoglycans
- NCAM1 interactions
- Collagen chain trimerization
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- Platelet degranulation
- Degradation of the extracellular matrix
- Degradation of the extracellular matrix
- Extracellular matrix organization
- Fibronectin matrix formation
- Cell surface interactions at the vascular wall
- Molecules associated with elastic fibres
- Integrin cell surface interactions
- Syndecan interactions
- Non-integrin membrane-ECM interactions
- ECM proteoglycans
- Integrin signaling
- GRB2:SOS provides linkage to MAPK signaling for Integrins
- p130Cas linkage to MAPK signaling for integrins
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- MAP2K and MAPK activation
- Interleukin-4 and Interleukin-13 signaling
- 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
- MET activates PTK2 signaling
- Post-translational protein phosphorylation
- Signaling downstream of RAS mutants
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- 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
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COL6A2 and ABCD3 |
collagen type VI alpha 2 chain |
ATP binding cassette subfamily D member 3 |
- Collagen degradation
- Collagen biosynthesis and modifying enzymes
- Signaling by PDGF
- Assembly of collagen fibrils and other multimeric structures
- Integrin cell surface interactions
- ECM proteoglycans
- ECM proteoglycans
- NCAM1 interactions
- Collagen chain trimerization
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- ABC transporters in lipid homeostasis
- Class I peroxisomal membrane protein import
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- 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
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COL6A2 and SIRPA |
collagen type VI alpha 2 chain |
signal regulatory protein alpha |
- Collagen degradation
- Collagen biosynthesis and modifying enzymes
- Signaling by PDGF
- Assembly of collagen fibrils and other multimeric structures
- Integrin cell surface interactions
- ECM proteoglycans
- ECM proteoglycans
- NCAM1 interactions
- Collagen chain trimerization
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- Cell surface interactions at the vascular wall
- Signal regulatory protein family interactions
- Signal regulatory protein family interactions
- Neutrophil degranulation
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- 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
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COL6A2 and SLC38A3 |
collagen type VI alpha 2 chain |
solute carrier family 38 member 3 |
- Collagen degradation
- Collagen biosynthesis and modifying enzymes
- Signaling by PDGF
- Assembly of collagen fibrils and other multimeric structures
- Integrin cell surface interactions
- ECM proteoglycans
- ECM proteoglycans
- NCAM1 interactions
- Collagen chain trimerization
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- Amino acid transport across the plasma membrane
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- 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
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COL6A3 and MMP2 |
collagen type VI alpha 3 chain |
matrix metallopeptidase 2 |
- Collagen degradation
- Collagen biosynthesis and modifying enzymes
- Signaling by PDGF
- Assembly of collagen fibrils and other multimeric structures
- Integrin cell surface interactions
- ECM proteoglycans
- ECM proteoglycans
- NCAM1 interactions
- Collagen chain trimerization
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- Collagen degradation
- Collagen degradation
- Degradation of the extracellular matrix
- Degradation of the extracellular matrix
- Activation of Matrix Metalloproteinases
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- EPH-ephrin mediated repulsion of cells
- Interleukin-4 and Interleukin-13 signaling
- Extra-nuclear estrogen signaling
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- Marimastat
- Captopril
- SC-74020
- Halofuginone
- AE-941
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- 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
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- Choriocarcinoma
- Penile cancer
- Torg-Winchester syndrome
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COL6A3 and PPT1 |
collagen type VI alpha 3 chain |
palmitoyl-protein thioesterase 1 |
- Collagen degradation
- Collagen biosynthesis and modifying enzymes
- Signaling by PDGF
- Assembly of collagen fibrils and other multimeric structures
- Integrin cell surface interactions
- ECM proteoglycans
- ECM proteoglycans
- NCAM1 interactions
- Collagen chain trimerization
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- Fatty acyl-CoA biosynthesis
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- 1-Hexadecylsulfonyl Fluoride
- Palmitic Acid
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- 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
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- Neuronal ceroid lipofuscinosis, including: Infantile Neuronal Ceroid Lipofuscinosis (INCL)/ Santavuori-Haltia Disease (CLN1); Late-Infantile Neuronal Ceroid Lipofuscinosis (LINCL)/ Jansky-Bielschowsky Disease (CLN2); Juvenile Neuronal Ceroid Lipofuscinosis (JNCL)/Batten Disease/ Spielmeyer-Vogt Disease (CLN3); Adult Neuronal Ceroid Lipofuscinosis (ANCL)/ Kufs Disease (CLN4); LINCL variant (CLN5, CLN6, CLN7, CLN8); Batten Disease variant (CLN9); Congenital NCL (CLN10)
- Progressive myoclonic epilepsy (PME), including: Lafora disease (LBD); Unverricht-Lundborg disease (ULD); Neuronal ceroid lipofuscinoses (NCL); Type I sialidosis; Action myoclonus-renal failure syndrome (AMRF); Type III Gaucher disease (GD)
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COL8A2 and LMNA |
collagen type VIII alpha 2 chain |
lamin A/C |
- Collagen degradation
- Collagen degradation
- Collagen biosynthesis and modifying enzymes
- Assembly of collagen fibrils and other multimeric structures
- Integrin cell surface interactions
- Collagen chain trimerization
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- XBP1(S) activates chaperone genes
- Signaling by BRAF and RAF fusions
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- Posterior polymorphous corneal dystrophy (PPCD)
- Fuchs corneal dystrophy (FECD); Fuchs endothelial corneal dystrophy
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- 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
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COL17A1 and PLEC |
collagen type XVII alpha 1 chain |
plectin |
- Collagen degradation
- Collagen biosynthesis and modifying enzymes
- Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
- Assembly of collagen fibrils and other multimeric structures
- Type I hemidesmosome assembly
- Collagen chain trimerization
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- Assembly of collagen fibrils and other multimeric structures
- Caspase-mediated cleavage of cytoskeletal proteins
- Type I hemidesmosome assembly
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- Epidermolysis bullosa, junctional, including: Epidermolysis bullosa, junctional, Herlitz type (JEB-H); Epidermolysis bullosa, junctional, non-Herlitz type (JEB-nH); Epidermolysis bullosa, junctional, with pyloric atresia (JEB-PA)
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- 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)
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COMT and HCK |
catechol-O-methyltransferase |
HCK proto-oncogene, Src family tyrosine kinase |
- Methylation
- Enzymatic degradation of dopamine by COMT
- Enzymatic degradation of Dopamine by monoamine oxidase
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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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- Ademetionine
- Tolcapone
- Entacapone
- 3,5-Dinitrocatechol
- 2-Methoxyestradiol
- BIA
- N-{3-[5-(6-Amino-Purin-9-Yl)-3,4-Dihydroxy-Tetrahydro-Furan-2-Yl]-Allyl}-2,3-Dihydroxy-5-Nitro-Benzamide
- Nialamide
- (3,4-DIHYDROXY-2-NITROPHENYL)(PHENYL)METHANONE
- 7,8-dihydroxy-4-phenyl-2H-chromen-2-one
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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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COPB1 and HLA-DPB1 |
COPI coat complex subunit beta 1 |
major histocompatibility complex, class II, DP beta 1 |
- Neutrophil degranulation
- COPI-mediated anterograde transport
- COPI-dependent Golgi-to-ER retrograde traffic
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- Downstream TCR signaling
- Phosphorylation of CD3 and TCR zeta chains
- Translocation of ZAP-70 to Immunological synapse
- Generation of second messenger molecules
- MHC class II antigen presentation
- PD-1 signaling
- Interferon gamma signaling
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- Dilated cardiomyopathy (DCM)
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COX6A2 and POT1 |
cytochrome c oxidase subunit 6A2 |
protection of telomeres 1 |
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- Recognition and association of DNA glycosylase with site containing an affected pyrimidine
- Cleavage of the damaged pyrimidine
- Recognition and association of DNA glycosylase with site containing an affected purine
- Recognition and association of DNA glycosylase with site containing an affected purine
- Cleavage of the damaged purine
- Cleavage of the damaged purine
- Meiotic synapsis
- Packaging Of Telomere Ends
- Telomere Extension By Telomerase
- DNA Damage/Telomere Stress Induced Senescence
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- Cholic Acid
- N-Formylmethionine
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COX6A2 and SNX21 |
cytochrome c oxidase subunit 6A2 |
sorting nexin family member 21 |
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- Cholic Acid
- N-Formylmethionine
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COX6A2 and MRPL12 |
cytochrome c oxidase subunit 6A2 |
mitochondrial ribosomal protein L12 |
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- Mitochondrial translation initiation
- Mitochondrial translation elongation
- Mitochondrial translation elongation
- Mitochondrial translation termination
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- Cholic Acid
- N-Formylmethionine
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COX6C and PTN |
cytochrome c oxidase subunit 6C |
pleiotrophin |
- TP53 Regulates Metabolic Genes
- Respiratory electron transport
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- Cholic Acid
- N-Formylmethionine
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COX6C and RCHY1 |
cytochrome c oxidase subunit 6C |
ring finger and CHY zinc finger domain containing 1 |
- TP53 Regulates Metabolic Genes
- Respiratory electron transport
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- Translesion Synthesis by POLH
- Antigen processing: Ubiquitination & Proteasome degradation
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- Cholic Acid
- N-Formylmethionine
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