CAPNS1 and PPARGC1A |
calpain small subunit 1 |
PPARG coactivator 1 alpha |
- Degradation of the extracellular matrix
- Degradation of the extracellular matrix
- Formation of the cornified envelope
- Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
- Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
|
- PPARA activates gene expression
- Transcriptional activation of mitochondrial biogenesis
- Activation of PPARGC1A (PGC-1alpha) by phosphorylation
- Transcriptional regulation of white adipocyte differentiation
- Transcriptional regulation of white adipocyte differentiation
- SUMOylation of transcription cofactors
- Circadian Clock
- Circadian Clock
- Regulation of RUNX2 expression and activity
- Regulation of RUNX2 expression and activity
- FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
|
|
|
|
|
CASP1 and LMNA |
caspase 1 |
lamin A/C |
- NOD1/2 Signaling Pathway
- Interleukin-1 processing
- TP53 Regulates Transcription of Caspase Activators and Caspases
- The NLRP3 inflammasome
- The AIM2 inflammasome
- The IPAF inflammasome
- Interleukin-37 signaling
- Purinergic signaling in leishmaniasis infection
|
- XBP1(S) activates chaperone genes
- Signaling by BRAF and RAF fusions
|
- Minocycline
- Pralnacasan
- LAX-101
- Emricasan
- VX-765
- 1-METHYL-3-TRIFLUOROMETHYL-1H-THIENO[2,3-C]PYRAZOLE-5-CARBOXYLIC ACID (2-MERCAPTO-ETHYL)-AMIDE
- Z-Val-Ala-Asp fluoromethyl ketone
- 3-{6-[(8-HYDROXY-QUINOLINE-2-CARBONYL)-AMINO]-2-THIOPHEN-2-YL-HEXANOYLAMINO}-4-OXO-BUTYRI ACID
|
|
|
- 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
|
CASP3 and RAC1 |
caspase 3 |
Rac family small GTPase 1 |
- 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
|
- 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
|
- 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
|
- Dextromethorphan
- Azathioprine
- Guanosine-5'-Diphosphate
|
|
|
CASP3 and AIFM1 |
caspase 3 |
apoptosis inducing factor mitochondria associated 1 |
- 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
|
|
- 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
|
- Flavin adenine dinucleotide
- MCC
|
|
|
CASP6 and LMNA |
caspase 6 |
lamin A/C |
- Apoptotic cleavage of cellular proteins
- Caspase-mediated cleavage of cytoskeletal proteins
- Breakdown of the nuclear lamina
- TP53 Regulates Transcription of Caspase Activators and Caspases
|
- XBP1(S) activates chaperone genes
- Signaling by BRAF and RAF fusions
|
|
|
|
- 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
|
CASP7 and RAC1 |
caspase 7 |
Rac family small GTPase 1 |
- 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
- Caspase-mediated cleavage of cytoskeletal proteins
|
- 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
|
|
|
CASP8 and PLEC |
caspase 8 |
plectin |
- Apoptotic cleavage of cellular proteins
- Caspase activation via Death Receptors in the presence of ligand
- NOD1/2 Signaling Pathway
- TRIF-mediated programmed cell death
- Caspase-mediated cleavage of cytoskeletal proteins
- Regulation by c-FLIP
- RIPK1-mediated regulated necrosis
- CASP8 activity is inhibited
- TNFR1-induced proapoptotic signaling
- Regulation of TNFR1 signaling
- CLEC7A/inflammasome pathway
- Regulation of necroptotic cell death
- Dimerization of procaspase-8
- Activation, myristolyation of BID and translocation to mitochondria
- Apoptotic execution phase
- FasL/ CD95L signaling
- TRAIL signaling
- TLR3-mediated TICAM1-dependent programmed cell death
- NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
|
- Assembly of collagen fibrils and other multimeric structures
- Caspase-mediated cleavage of cytoskeletal proteins
- Type I hemidesmosome assembly
|
|
|
- Autoimmune lymphoproliferative syndromes (ALPS), including the following five diseases: CD95 (Fas) defect, ALPS type 1a; CD95L (Fas ligand) defect, ALPS type 1b; Caspase 10 defect, ALPS type 2a; Caspase 8 defext, ALPS type 2b; Activaing N-Ras defect, N-Ras ALPS
|
- 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)
|
CAV1 and INSR |
caveolin 1 |
insulin receptor |
- Triglyceride catabolism
- eNOS activation
- NOSTRIN mediated eNOS trafficking
- Basigin interactions
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- VEGFR2 mediated vascular permeability
- Extra-nuclear estrogen signaling
- FOXO-mediated transcription of cell cycle genes
|
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- IRS activation
- Signal attenuation
- Insulin receptor signalling cascade
- Signaling by Insulin receptor
- Insulin receptor recycling
|
|
- 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
|
- Congenital generalized lipodystrophy (CGL)
|
- Rabson-Mendenhall syndrome
- Leprechaunism ; Donohue syndrome
|
CAV1 and RAC1 |
caveolin 1 |
Rac family small GTPase 1 |
- Triglyceride catabolism
- eNOS activation
- NOSTRIN mediated eNOS trafficking
- Basigin interactions
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- VEGFR2 mediated vascular permeability
- Extra-nuclear estrogen signaling
- FOXO-mediated transcription of cell cycle genes
|
- 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
|
- Congenital generalized lipodystrophy (CGL)
|
|
CAV3 and INSR |
caveolin 3 |
insulin receptor |
- Smooth Muscle Contraction
- Smooth Muscle Contraction
|
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- IRS activation
- Signal attenuation
- Insulin receptor signalling cascade
- Signaling by Insulin receptor
- Insulin receptor recycling
|
|
- 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
|
- Caveolinopathies, including: Limb-girdle muscular dystrophy (LGMD) 1C; Rippling muscle disease (RMD); Idiopathic hyperCKemia; Distal myopathy with decreased caveolin 3; Hypertrophic cardiomyopathy (HCM)
- Long QT syndrome, including: Romano-Ward syndrome; Jervell and Lange-Nielsen syndrome (JLNS)
- Limb-girdle muscular dystrophy (LGMD)
|
- Rabson-Mendenhall syndrome
- Leprechaunism ; Donohue syndrome
|
RUNX1 and COL6A1 |
RUNX family transcription factor 1 |
collagen type VI alpha 1 chain |
- Pre-NOTCH Transcription and Translation
- Organic cation transport
- RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)
- RUNX1 regulates estrogen receptor mediated transcription
- Regulation of RUNX1 Expression and Activity
- Regulation of RUNX1 Expression and Activity
- RUNX1 regulates expression of components of tight junctions
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- RUNX1 regulates transcription of genes involved in differentiation of keratinocytes
- RUNX1 regulates transcription of genes involved in differentiation of keratinocytes
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- RUNX1 regulates transcription of genes involved in BCR signaling
- RUNX1 regulates transcription of genes involved in differentiation of myeloid cells
- RUNX1 regulates transcription of genes involved in interleukin signaling
- RUNX1 regulates transcription of genes involved in WNT signaling
- RUNX2 regulates genes involved in differentiation of myeloid cells
- RUNX3 regulates p14-ARF
- Estrogen-dependent gene expression
- Transcriptional regulation of granulopoiesis
|
- 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
|
|
|
- Chronic myeloid leukemia (CML)
- Thrombocytopenia (THC); Familial platelet disorder with associated myeloid malignancy (FPDMM)
- Acute myeloid leukemia (AML)
- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
|
- 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
|
RUNX1 and TAZ |
RUNX family transcription factor 1 |
tafazzin |
- Pre-NOTCH Transcription and Translation
- Organic cation transport
- RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)
- RUNX1 regulates estrogen receptor mediated transcription
- Regulation of RUNX1 Expression and Activity
- Regulation of RUNX1 Expression and Activity
- RUNX1 regulates expression of components of tight junctions
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- RUNX1 regulates transcription of genes involved in differentiation of keratinocytes
- RUNX1 regulates transcription of genes involved in differentiation of keratinocytes
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- RUNX1 regulates transcription of genes involved in BCR signaling
- RUNX1 regulates transcription of genes involved in differentiation of myeloid cells
- RUNX1 regulates transcription of genes involved in interleukin signaling
- RUNX1 regulates transcription of genes involved in WNT signaling
- RUNX2 regulates genes involved in differentiation of myeloid cells
- RUNX3 regulates p14-ARF
- Estrogen-dependent gene expression
- Transcriptional regulation of granulopoiesis
|
- Mitochondrial protein import
- Mitochondrial protein import
- Acyl chain remodeling of CL
|
|
|
- Chronic myeloid leukemia (CML)
- Thrombocytopenia (THC); Familial platelet disorder with associated myeloid malignancy (FPDMM)
- Acute myeloid leukemia (AML)
- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
|
- 3-Methylglutaconic aciduria (MGCA)
- Barth syndrome (BTHS)
- Dilated cardiomyopathy (DCM)
|
CBL and INSR |
Cbl proto-oncogene |
insulin receptor |
- Interleukin-6 signaling
- Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
- Spry regulation of FGF signaling
- Regulation of KIT signaling
- EGFR downregulation
- TGF-beta receptor signaling activates SMADs
- Constitutive Signaling by EGFRvIII
- Negative regulation of FGFR1 signaling
- Negative regulation of FGFR2 signaling
- Negative regulation of FGFR3 signaling
- Negative regulation of FGFR4 signaling
- Negative regulation of MET activity
- PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- InlB-mediated entry of Listeria monocytogenes into host cell
- InlB-mediated entry of Listeria monocytogenes into host cell
- Regulation of signaling by CBL
- Regulation of signaling by CBL
|
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- IRS activation
- Signal attenuation
- Insulin receptor signalling cascade
- Signaling by Insulin receptor
- Insulin receptor recycling
|
|
- 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
|
- 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)
|
- Rabson-Mendenhall syndrome
- Leprechaunism ; Donohue syndrome
|
CBL and YWHAZ |
Cbl proto-oncogene |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta |
- Interleukin-6 signaling
- Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
- Spry regulation of FGF signaling
- Regulation of KIT signaling
- EGFR downregulation
- TGF-beta receptor signaling activates SMADs
- Constitutive Signaling by EGFRvIII
- Negative regulation of FGFR1 signaling
- Negative regulation of FGFR2 signaling
- Negative regulation of FGFR3 signaling
- Negative regulation of FGFR4 signaling
- Negative regulation of MET activity
- PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- InlB-mediated entry of Listeria monocytogenes into host cell
- InlB-mediated entry of Listeria monocytogenes into host cell
- Regulation of signaling by CBL
- Regulation of signaling by CBL
|
- 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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- 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)
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CBL and TRAF4 |
Cbl proto-oncogene |
TNF receptor associated factor 4 |
- Interleukin-6 signaling
- Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
- Spry regulation of FGF signaling
- Regulation of KIT signaling
- EGFR downregulation
- TGF-beta receptor signaling activates SMADs
- Constitutive Signaling by EGFRvIII
- Negative regulation of FGFR1 signaling
- Negative regulation of FGFR2 signaling
- Negative regulation of FGFR3 signaling
- Negative regulation of FGFR4 signaling
- Negative regulation of MET activity
- PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- InlB-mediated entry of Listeria monocytogenes into host cell
- InlB-mediated entry of Listeria monocytogenes into host cell
- Regulation of signaling by CBL
- Regulation of signaling by CBL
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- 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)
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CBL and HCK |
Cbl proto-oncogene |
HCK proto-oncogene, Src family tyrosine kinase |
- Interleukin-6 signaling
- Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
- Spry regulation of FGF signaling
- Regulation of KIT signaling
- EGFR downregulation
- TGF-beta receptor signaling activates SMADs
- Constitutive Signaling by EGFRvIII
- Negative regulation of FGFR1 signaling
- Negative regulation of FGFR2 signaling
- Negative regulation of FGFR3 signaling
- Negative regulation of FGFR4 signaling
- Negative regulation of MET activity
- PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- InlB-mediated entry of Listeria monocytogenes into host cell
- InlB-mediated entry of Listeria monocytogenes into host cell
- Regulation of signaling by CBL
- Regulation of signaling by CBL
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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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- 1-Ter-Butyl-3-P-Tolyl-1h-Pyrazolo[3,4-D]Pyrimidin-4-Ylamine
- Phosphonotyrosine
- Quercetin
- Bosutinib
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- 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)
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CCNG1 and LMNA |
cyclin G1 |
lamin A/C |
- Regulation of TP53 Degradation
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- 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
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CCNG1 and GRN |
cyclin G1 |
granulin precursor |
- Regulation of TP53 Degradation
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- 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)
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CCNT1 and GRN |
cyclin T1 |
granulin precursor |
- Formation of RNA Pol II elongation complex
- Formation of HIV elongation complex in the absence of HIV Tat
- Formation of HIV-1 elongation complex containing HIV-1 Tat
- Formation of HIV-1 elongation complex containing HIV-1 Tat
- Pausing and recovery of Tat-mediated HIV elongation
- Tat-mediated HIV elongation arrest and recovery
- Tat-mediated elongation of the HIV-1 transcript
- HIV elongation arrest and recovery
- Pausing and recovery of HIV elongation
- Interactions of Tat with host cellular proteins
- SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
- RNA Polymerase II Pre-transcription Events
- TP53 Regulates Transcription of DNA Repair Genes
- RNA polymerase II transcribes snRNA genes
- RNA polymerase II transcribes snRNA genes
- RNA Polymerase II Transcription Elongation
- Estrogen-dependent gene expression
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- 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)
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CD14 and LBP |
CD14 molecule |
lipopolysaccharide binding protein |
- ER-Phagosome pathway
- Caspase activation via Death Receptors in the presence of ligand
- Toll Like Receptor 4 (TLR4) Cascade
- Transfer of LPS from LBP carrier to CD14
- MyD88:MAL(TIRAP) cascade initiated on plasma membrane
- MyD88-independent TLR4 cascade
- Toll Like Receptor TLR1:TLR2 Cascade
- Toll Like Receptor TLR6:TLR2 Cascade
- TRIF-mediated programmed cell death
- MyD88 deficiency (TLR2/4)
- IRAK4 deficiency (TLR2/4)
- Regulation of TLR by endogenous ligand
- Neutrophil degranulation
- Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon
- IKK complex recruitment mediated by RIP1
- TRAF6-mediated induction of TAK1 complex within TLR4 complex
- IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation
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- Toll Like Receptor 4 (TLR4) Cascade
- Transfer of LPS from LBP carrier to CD14
- Regulation of TLR by endogenous ligand
- Interleukin-4 and Interleukin-13 signaling
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