CTSD and INS |
cathepsin D |
insulin |
- Collagen degradation
- Metabolism of Angiotensinogen to Angiotensins
- MHC class II antigen presentation
- Neutrophil degranulation
- Estrogen-dependent gene expression
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- 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
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- Insulin Human
- Insulin Pork
- S-Methylcysteine
- 1h-Benoximidazole-2-Carboxylic Acid
- N-Aminoethylmorpholine
- 5-AMINO-6-CYCLOHEXYL-4-HYDROXY-2-ISOBUTYL-HEXANOIC ACID
- CYCLOHEXYLMETHYL-2,3-DIHYDROXY-5-METHYL-HEXYLAMIDE
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- Zinc
- M-Cresol
- Myristic acid
|
- 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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- Maturity onset diabetes of the young (MODY)
- Type I diabetes mellitus
- Permanent neonatal diabetes mellitus (PNDM)
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CTSD and NLGN3 |
cathepsin D |
neuroligin 3 |
- Collagen degradation
- Metabolism of Angiotensinogen to Angiotensins
- MHC class II antigen presentation
- Neutrophil degranulation
- Estrogen-dependent gene expression
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- Neurexins and neuroligins
- Neurexins and neuroligins
|
- Insulin Human
- Insulin Pork
- S-Methylcysteine
- 1h-Benoximidazole-2-Carboxylic Acid
- N-Aminoethylmorpholine
- 5-AMINO-6-CYCLOHEXYL-4-HYDROXY-2-ISOBUTYL-HEXANOIC ACID
- CYCLOHEXYLMETHYL-2,3-DIHYDROXY-5-METHYL-HEXYLAMIDE
|
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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)
|
|
CTSE and INS |
cathepsin E |
insulin |
- MHC class II antigen presentation
|
- 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
|
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- Zinc
- M-Cresol
- Myristic acid
|
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- Maturity onset diabetes of the young (MODY)
- Type I diabetes mellitus
- Permanent neonatal diabetes mellitus (PNDM)
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CYB561 and LMNA |
cytochrome b561 |
lamin A/C |
|
- XBP1(S) activates chaperone genes
- Signaling by BRAF and RAF fusions
|
|
|
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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
|
CYBA and UPF2 |
cytochrome b-245 alpha chain |
UPF2 regulator of nonsense mediated mRNA decay |
- ROS and RNS production in phagocytes
- Cross-presentation of particulate exogenous antigens (phagosomes)
- Detoxification of Reactive Oxygen Species
- VEGFA-VEGFR2 Pathway
- RHO GTPases Activate NADPH Oxidases
- Neutrophil degranulation
- WNT5:FZD7-mediated leishmania damping
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- Regulation of expression of SLITs and ROBOs
- Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
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- Chronic granulomatous disease, including the following four diseases: X-linked CGD (gp91 phox CGD); p22phox deficiency (p22phox CGD); p47phox deficiency (p47phox CGD); p67phox deficiency (p67phox CGD)
|
|
CYBA and APPBP2 |
cytochrome b-245 alpha chain |
amyloid beta precursor protein binding protein 2 |
- ROS and RNS production in phagocytes
- Cross-presentation of particulate exogenous antigens (phagosomes)
- Detoxification of Reactive Oxygen Species
- VEGFA-VEGFR2 Pathway
- RHO GTPases Activate NADPH Oxidases
- Neutrophil degranulation
- WNT5:FZD7-mediated leishmania damping
|
|
|
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- Chronic granulomatous disease, including the following four diseases: X-linked CGD (gp91 phox CGD); p22phox deficiency (p22phox CGD); p47phox deficiency (p47phox CGD); p67phox deficiency (p67phox CGD)
|
|
CYBA and RCHY1 |
cytochrome b-245 alpha chain |
ring finger and CHY zinc finger domain containing 1 |
- ROS and RNS production in phagocytes
- Cross-presentation of particulate exogenous antigens (phagosomes)
- Detoxification of Reactive Oxygen Species
- VEGFA-VEGFR2 Pathway
- RHO GTPases Activate NADPH Oxidases
- Neutrophil degranulation
- WNT5:FZD7-mediated leishmania damping
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- Translesion Synthesis by POLH
- Antigen processing: Ubiquitination & Proteasome degradation
|
|
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- Chronic granulomatous disease, including the following four diseases: X-linked CGD (gp91 phox CGD); p22phox deficiency (p22phox CGD); p47phox deficiency (p47phox CGD); p67phox deficiency (p67phox CGD)
|
|
CYBA and PSMA3 |
cytochrome b-245 alpha chain |
proteasome 20S subunit alpha 3 |
- ROS and RNS production in phagocytes
- Cross-presentation of particulate exogenous antigens (phagosomes)
- Detoxification of Reactive Oxygen Species
- VEGFA-VEGFR2 Pathway
- RHO GTPases Activate NADPH Oxidases
- Neutrophil degranulation
- WNT5:FZD7-mediated leishmania damping
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- Activation of NF-kappaB in B cells
- Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
- ER-Phagosome pathway
- Cross-presentation of soluble exogenous antigens (endosomes)
- Autodegradation of Cdh1 by Cdh1:APC/C
- SCF-beta-TrCP mediated degradation of Emi1
- APC/C:Cdc20 mediated degradation of Securin
- APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
- Cdc20:Phospho-APC/C mediated degradation of Cyclin A
- Vpu mediated degradation of CD4
- Vif-mediated degradation of APOBEC3G
- SCF(Skp2)-mediated degradation of p27/p21
- Degradation of beta-catenin by the destruction complex
- Downstream TCR signaling
- Regulation of activated PAK-2p34 by proteasome mediated degradation
- Separation of Sister Chromatids
- FCERI mediated NF-kB activation
- Autodegradation of the E3 ubiquitin ligase COP1
- Regulation of ornithine decarboxylase (ODC)
- ABC-family proteins mediated transport
- AUF1 (hnRNP D0) binds and destabilizes mRNA
- Asymmetric localization of PCP proteins
- Degradation of AXIN
- Degradation of DVL
- Hedgehog ligand biogenesis
- Hh mutants that don't undergo autocatalytic processing are degraded by ERAD
- Dectin-1 mediated noncanonical NF-kB signaling
- CLEC7A (Dectin-1) signaling
- Degradation of GLI1 by the proteasome
- Degradation of GLI2 by the proteasome
- GLI3 is processed to GLI3R by the proteasome
- Hedgehog 'on' state
- Regulation of RAS by GAPs
- TNFR2 non-canonical NF-kB pathway
- NIK - noncanonical NF-kB signaling
- Defective CFTR causes cystic fibrosis
- MAPK6/MAPK4 signaling
- UCH proteinases
- Ub-specific processing proteases
- CDT1 association with the CDC6:ORC:origin complex
- Orc1 removal from chromatin
- CDK-mediated phosphorylation and removal of Cdc6
- G2/M Checkpoints
- Ubiquitin Mediated Degradation of Phosphorylated Cdc25A
- Ubiquitin-dependent degradation of Cyclin D
- The role of GTSE1 in G2/M progression after G2 checkpoint
- FBXL7 down-regulates AURKA during mitotic entry and in early mitosis
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- Regulation of RUNX2 expression and activity
- Regulation of RUNX2 expression and activity
- Regulation of RUNX3 expression and activity
- Regulation of PTEN stability and activity
- Neddylation
- Regulation of expression of SLITs and ROBOs
- Interleukin-1 signaling
- Negative regulation of NOTCH4 signaling
- Antigen processing: Ubiquitination & Proteasome degradation
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- (3AR,6R,6AS)-6-((S)-((S)-CYCLOHEX-2-ENYL)(HYDROXY)METHYL)-6A-METHYL-4-OXO-HEXAHYDRO-2H-FURO[3,2-C]PYRROLE-6-CARBALDEHYDE
- Phenethyl Isothiocyanate
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- Chronic granulomatous disease, including the following four diseases: X-linked CGD (gp91 phox CGD); p22phox deficiency (p22phox CGD); p47phox deficiency (p47phox CGD); p67phox deficiency (p67phox CGD)
|
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CYBA and RBPMS |
cytochrome b-245 alpha chain |
RNA binding protein, mRNA processing factor |
- ROS and RNS production in phagocytes
- Cross-presentation of particulate exogenous antigens (phagosomes)
- Detoxification of Reactive Oxygen Species
- VEGFA-VEGFR2 Pathway
- RHO GTPases Activate NADPH Oxidases
- Neutrophil degranulation
- WNT5:FZD7-mediated leishmania damping
|
|
|
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- Chronic granulomatous disease, including the following four diseases: X-linked CGD (gp91 phox CGD); p22phox deficiency (p22phox CGD); p47phox deficiency (p47phox CGD); p67phox deficiency (p67phox CGD)
|
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CYBA and MDFI |
cytochrome b-245 alpha chain |
MyoD family inhibitor |
- ROS and RNS production in phagocytes
- Cross-presentation of particulate exogenous antigens (phagosomes)
- Detoxification of Reactive Oxygen Species
- VEGFA-VEGFR2 Pathway
- RHO GTPases Activate NADPH Oxidases
- Neutrophil degranulation
- WNT5:FZD7-mediated leishmania damping
|
|
|
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- Chronic granulomatous disease, including the following four diseases: X-linked CGD (gp91 phox CGD); p22phox deficiency (p22phox CGD); p47phox deficiency (p47phox CGD); p67phox deficiency (p67phox CGD)
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CYBB and IQGAP1 |
cytochrome b-245 beta chain |
IQ motif containing GTPase activating protein 1 |
- ROS and RNS production in phagocytes
- Cross-presentation of particulate exogenous antigens (phagosomes)
- Detoxification of Reactive Oxygen Species
- VEGFA-VEGFR2 Pathway
- RHO GTPases Activate NADPH Oxidases
- Neutrophil degranulation
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- Nephrin family interactions
- Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
- RHO GTPases activate IQGAPs
- MAP2K and MAPK activation
- Neutrophil degranulation
- 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
- Signaling downstream of RAS mutants
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- Chronic granulomatous disease, including the following four diseases: X-linked CGD (gp91 phox CGD); p22phox deficiency (p22phox CGD); p47phox deficiency (p47phox CGD); p67phox deficiency (p67phox CGD)
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CYP2C8 and ECSIT |
cytochrome P450 family 2 subfamily C member 8 |
ECSIT signaling integrator |
- Xenobiotics
- CYP2E1 reactions
- Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)
- Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)
- Biosynthesis of maresin-like SPMs
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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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- Isoniazid
- Palmitic Acid
- (5R)-5-(4-{[(2R)-6-HYDROXY-2,5,7,8-TETRAMETHYL-3,4-DIHYDRO-2H-CHROMEN-2-YL]METHOXY}BENZYL)-1,3-THIAZOLIDINE-2,4-DIONE
|
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CYP2C9 and ECSIT |
cytochrome P450 family 2 subfamily C member 9 |
ECSIT signaling integrator |
- Xenobiotics
- CYP2E1 reactions
- Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)
- Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)
- Biosynthesis of maresin-like SPMs
|
- 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
|
- 4-Hydroxy-3-[(1s)-3-Oxo-1-Phenylbutyl]-2h-Chromen-2-One
- Heme C
- Diacerein
- Benzbromarone
|
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CYP2C18 and ECSIT |
cytochrome P450 family 2 subfamily C member 18 |
ECSIT signaling integrator |
|
- 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
|
- 4-METHYL-N-METHYL-N-(2-PHENYL-2H-PYRAZOL-3-YL)BENZENESULFONAMIDE
|
|
|
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DACH1 and SOX3 |
dachshund family transcription factor 1 |
SRY-box transcription factor 3 |
|
- Deactivation of the beta-catenin transactivating complex
|
|
|
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- Septo-optic dysplasia
- Pituitary Dwarfism (PD); Isolated growth hormone deficiency (IGHD); Short Stature and Pituitary Defects (SSPD); Insulin-like growth factor 1 deficiency (IGFD)
- 46,XX disorders of sex development (Disorders of gonadal development), including: Ovotesticular DSD; Testicular DSD; Ovarian dysgenesis
- Syndromic X-linked mental retardation, including: Turner type (MRXST); Siderius type (MRXSSD) ; Cabezas type (MRXC); Raymond type (MRXSR); Type10 (MRXS10); Type14 (MRXS14); Mental retardation with isolated growth hormone deficiency (MRGH)
|
DACH1 and SOX4 |
dachshund family transcription factor 1 |
SRY-box transcription factor 4 |
|
- Deactivation of the beta-catenin transactivating complex
|
|
|
|
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DACH1 and RNF14 |
dachshund family transcription factor 1 |
ring finger protein 14 |
|
- Antigen processing: Ubiquitination & Proteasome degradation
|
|
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DACH1 and AURKA |
dachshund family transcription factor 1 |
aurora kinase A |
|
- APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
- Regulation of PLK1 Activity at G2/M Transition
- SUMOylation of DNA replication proteins
- TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
- Regulation of TP53 Activity through Phosphorylation
- FBXL7 down-regulates AURKA during mitotic entry and in early mitosis
- AURKA Activation by TPX2
- Interaction between PHLDA1 and AURKA
|
|
- Phosphonothreonine
- AT9283
- CYC116
- Alisertib
- 4-(4-METHYLPIPERAZIN-1-YL)-N-[5-(2-THIENYLACETYL)-1,5-DIHYDROPYRROLO[3,4-C]PYRAZOL-3-YL]BENZAMIDE
- 8-ethyl-3,10,10-trimethyl-4,5,6,8,10,12-hexahydropyrazolo[4',3':6,7]cyclohepta[1,2-b]pyrrolo[2,3-f]indol-9(1H)-one
- 1-{5-[2-(thieno[3,2-d]pyrimidin-4-ylamino)ethyl]-1,3-thiazol-2-yl}-3-[3-(trifluoromethyl)phenyl]urea
- 1-(3-chlorophenyl)-3-{5-[2-(thieno[3,2-d]pyrimidin-4-ylamino)ethyl]-1,3-thiazol-2-yl}urea
- 1-(5-{2-[(1-methyl-1H-pyrazolo[4,3-d]pyrimidin-7-yl)amino]ethyl}-1,3-thiazol-2-yl)-3-[3-(trifluoromethyl)phenyl]urea
- N-{3-[(4-{[3-(TRIFLUOROMETHYL)PHENYL]AMINO}PYRIMIDIN-2-YL)AMINO]PHENYL}CYCLOPROPANECARBOXAMIDE
- N-butyl-3-{[6-(9H-purin-6-ylamino)hexanoyl]amino}benzamide
- 2-(1H-pyrazol-3-yl)-1H-benzimidazole
- N-[3-(1H-BENZIMIDAZOL-2-YL)-1H-PYRAZOL-4-YL]BENZAMIDE
- MLN8054
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DACH1 and MYC |
dachshund family transcription factor 1 |
MYC proto-oncogene, bHLH transcription factor |
|
- Transcription of E2F targets under negative control by DREAM complex
- NOTCH1 Intracellular Domain Regulates Transcription
- SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- Binding of TCF/LEF:CTNNB1 to target gene promoters
- MAPK6/MAPK4 signaling
- Ub-specific processing proteases
- Interleukin-4 and Interleukin-13 signaling
- Cyclin E associated events during G1/S transition
- Cyclin A:Cdk2-associated events at S phase entry
- TFAP2 (AP-2) family regulates transcription of cell cycle factors
- RUNX3 regulates WNT signaling
- Estrogen-dependent gene expression
- Transcriptional regulation of granulopoiesis
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- Choriocarcinoma
- Penile cancer
- Burkitt lymphoma
- Oral cancer
- Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia)
- Multiple myeloma
- Small cell lung cancer
- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
- Osteosarcoma
- Kaposi's sarcoma
- Laryngeal cancer
- Breast cancer
- Ovarian cancer
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DACH1 and STK11 |
dachshund family transcription factor 1 |
serine/threonine kinase 11 |
|
- AMPK inhibits chREBP transcriptional activation activity
- Energy dependent regulation of mTOR by LKB1-AMPK
- Regulation of TP53 Activity through Phosphorylation
- FOXO-mediated transcription of cell death genes
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- Peutz-Jeghers syndrome
- Pancreatic cancer
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