CCN2 and TGFB1 |
cellular communication network factor 2 |
transforming growth factor beta 1 |
- YAP1- and WWTR1 (TAZ)-stimulated gene expression
- RUNX3 regulates YAP1-mediated transcription
|
- Platelet degranulation
- Influenza Virus Induced Apoptosis
- Cell surface interactions at the vascular wall
- Molecules associated with elastic fibres
- Downregulation of TGF-beta receptor signaling
- Downregulation of TGF-beta receptor signaling
- TGF-beta receptor signaling activates SMADs
- TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
- TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
- Syndecan interactions
- ECM proteoglycans
- SMAD2/3 Phosphorylation Motif Mutants in Cancer
- TGFBR2 MSI Frameshift Mutants in Cancer
- TGFBR2 Kinase Domain Mutants in Cancer
- TGFBR1 KD Mutants in Cancer
- TGFBR1 LBD Mutants in Cancer
- Transcriptional regulation of white adipocyte differentiation
- UCH proteinases
- Interleukin-4 and Interleukin-13 signaling
- RUNX3 regulates CDKN1A transcription
- Regulation of RUNX3 expression and activity
- RUNX3 regulates p14-ARF
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- Hyaluronidase
- Hyaluronidase (Human Recombinant)
|
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- Graft-versus-host disease
- Allograft rejection
- Camurati-Engelmann disease; Progressive diaphyseal dysplasia
|
CTNNA2 and TOMM70 |
catenin alpha 2 |
translocase of outer mitochondrial membrane 70 |
|
- Mitochondrial protein import
- Pink/Parkin Mediated Mitophagy
- Ub-specific processing proteases
|
|
|
|
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CTNNA2 and PTPN14 |
catenin alpha 2 |
protein tyrosine phosphatase non-receptor type 14 |
|
|
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|
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- Choanal atresia and lymphedema
|
CTNNA2 and CTNNBIP1 |
catenin alpha 2 |
catenin beta interacting protein 1 |
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- Deactivation of the beta-catenin transactivating complex
|
|
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CTNNB1 and MITF |
catenin beta 1 |
melanocyte inducing transcription factor |
- Degradation of beta-catenin by the destruction complex
- Beta-catenin phosphorylation cascade
- TCF dependent signaling in response to WNT
- Formation of the beta-catenin:TCF transactivating complex
- Formation of the beta-catenin:TCF transactivating complex
- LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production
- Apoptotic cleavage of cell adhesion proteins
- Deactivation of the beta-catenin transactivating complex
- Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
- Ca2+ pathway
- Adherens junctions interactions
- Binding of TCF/LEF:CTNNB1 to target gene promoters
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- VEGFR2 mediated vascular permeability
- Myogenesis
- Myogenesis
- Misspliced GSK3beta mutants stabilize beta-catenin
- S33 mutants of beta-catenin aren't phosphorylated
- S37 mutants of beta-catenin aren't phosphorylated
- S45 mutants of beta-catenin aren't phosphorylated
- T41 mutants of beta-catenin aren't phosphorylated
- RHO GTPases activate IQGAPs
- Transcriptional Regulation by VENTX
- InlA-mediated entry of Listeria monocytogenes into host cells
- RUNX3 regulates WNT signaling
|
- SUMOylation of transcription factors
|
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- Gastric cancer
- Colorectal cancer
- Endometrial Cancer
- Pilomatricoma; Epithelioma calcificans of Malherbe
- Thyroid cancer
- Hepatocellular carcinoma
|
- Ocular albinism; Ocular albinism, type I (OA1); Waardenburg syndrome, type II (WS2-OA)
- Waardenburg syndrome (WS)
- Malignant melanoma
|
CTSD and SPRED2 |
cathepsin D |
sprouty related EVH1 domain containing 2 |
- Collagen degradation
- Metabolism of Angiotensinogen to Angiotensins
- MHC class II antigen presentation
- Neutrophil degranulation
- Estrogen-dependent gene expression
|
- Regulation of RAS by GAPs
- FGFRL1 modulation of FGFR1 signaling
- RAS signaling downstream of NF1 loss-of-function variants
|
- 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
|
|
- 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 TUBGCP2 |
cathepsin E |
tubulin gamma complex associated protein 2 |
- MHC class II antigen presentation
|
- Recruitment of mitotic centrosome proteins and complexes
- Recruitment of NuMA to mitotic centrosomes
|
|
|
|
|
DACH1 and FGF12 |
dachshund family transcription factor 1 |
fibroblast growth factor 12 |
|
- Phase 0 - rapid depolarisation
|
|
|
|
|
DAG1 and DMD |
dystroglycan 1 |
dystrophin |
- Non-integrin membrane-ECM interactions
- ECM proteoglycans
- ECM proteoglycans
- Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3
- Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2
- Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1
- O-linked glycosylation
- Regulation of expression of SLITs and ROBOs
- EGR2 and SOX10-mediated initiation of Schwann cell myelination
|
- Non-integrin membrane-ECM interactions
- Striated Muscle Contraction
|
|
|
- Limb-girdle muscular dystrophy (LGMD)
|
- Glycerol kinase deficiency (GKD), including: Hyperglycerolemia; Chromosome Xp21 deletion syndrome; Adrenal hypoplasia, congenital (AHC); Duchenne muscular dystrophy (DMD)
- Dystrophinopathies, including: Duchenne muscular dystrophy (DMD); Becker muscular dystrophy (BMD); X-linked dilated cardiomyopathy (XLCM)
- Dilated cardiomyopathy (DCM)
|
DAXX and TGFB1 |
death domain associated protein |
transforming growth factor beta 1 |
- SUMOylation of transcription cofactors
- Regulation of TP53 Degradation
- HCMV Early Events
|
- Platelet degranulation
- Influenza Virus Induced Apoptosis
- Cell surface interactions at the vascular wall
- Molecules associated with elastic fibres
- Downregulation of TGF-beta receptor signaling
- Downregulation of TGF-beta receptor signaling
- TGF-beta receptor signaling activates SMADs
- TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
- TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
- Syndecan interactions
- ECM proteoglycans
- SMAD2/3 Phosphorylation Motif Mutants in Cancer
- TGFBR2 MSI Frameshift Mutants in Cancer
- TGFBR2 Kinase Domain Mutants in Cancer
- TGFBR1 KD Mutants in Cancer
- TGFBR1 LBD Mutants in Cancer
- Transcriptional regulation of white adipocyte differentiation
- UCH proteinases
- Interleukin-4 and Interleukin-13 signaling
- RUNX3 regulates CDKN1A transcription
- Regulation of RUNX3 expression and activity
- RUNX3 regulates p14-ARF
|
|
- Hyaluronidase
- Hyaluronidase (Human Recombinant)
|
|
- Graft-versus-host disease
- Allograft rejection
- Camurati-Engelmann disease; Progressive diaphyseal dysplasia
|
DCN and TGFB1 |
decorin |
transforming growth factor beta 1 |
- Degradation of the extracellular matrix
- A tetrasaccharide linker sequence is required for GAG synthesis
- Chondroitin sulfate biosynthesis
- Dermatan sulfate biosynthesis
- CS/DS degradation
- ECM proteoglycans
- ECM proteoglycans
- Defective B4GALT7 causes EDS, progeroid type
- Defective B3GAT3 causes JDSSDHD
- Defective CHST3 causes SEDCJD
- Defective CHST14 causes EDS, musculocontractural type
- Defective CHSY1 causes TPBS
- Defective B3GALT6 causes EDSP2 and SEMDJL1
|
- Platelet degranulation
- Influenza Virus Induced Apoptosis
- Cell surface interactions at the vascular wall
- Molecules associated with elastic fibres
- Downregulation of TGF-beta receptor signaling
- Downregulation of TGF-beta receptor signaling
- TGF-beta receptor signaling activates SMADs
- TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
- TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
- Syndecan interactions
- ECM proteoglycans
- SMAD2/3 Phosphorylation Motif Mutants in Cancer
- TGFBR2 MSI Frameshift Mutants in Cancer
- TGFBR2 Kinase Domain Mutants in Cancer
- TGFBR1 KD Mutants in Cancer
- TGFBR1 LBD Mutants in Cancer
- Transcriptional regulation of white adipocyte differentiation
- UCH proteinases
- Interleukin-4 and Interleukin-13 signaling
- RUNX3 regulates CDKN1A transcription
- Regulation of RUNX3 expression and activity
- RUNX3 regulates p14-ARF
|
|
- Hyaluronidase
- Hyaluronidase (Human Recombinant)
|
- Congenital stromal corneal dystrophy (CSCD); Congenital hereditary stromal dystrophy; Witschel dystrophy
|
- Graft-versus-host disease
- Allograft rejection
- Camurati-Engelmann disease; Progressive diaphyseal dysplasia
|
DCTD and FGF12 |
dCMP deaminase |
fibroblast growth factor 12 |
- Interconversion of nucleotide di- and triphosphates
|
- Phase 0 - rapid depolarisation
|
|
|
|
|
DLG1 and DLG2 |
discs large MAGUK scaffold protein 1 |
discs large MAGUK scaffold protein 2 |
- Trafficking of AMPA receptors
- Unblocking of NMDA receptors, glutamate binding and activation
- Unblocking of NMDA receptors, glutamate binding and activation
- Ras activation upon Ca2+ influx through NMDA receptor
- NrCAM interactions
- Activation of Ca-permeable Kainate Receptor
- RAF/MAP kinase cascade
- Synaptic adhesion-like molecules
- Assembly and cell surface presentation of NMDA receptors
- Negative regulation of NMDA receptor-mediated neuronal transmission
- Long-term potentiation
|
- Unblocking of NMDA receptors, glutamate binding and activation
- Unblocking of NMDA receptors, glutamate binding and activation
- Ras activation upon Ca2+ influx through NMDA receptor
- RAF/MAP kinase cascade
- Neurexins and neuroligins
- Neurexins and neuroligins
- Assembly and cell surface presentation of NMDA receptors
- Negative regulation of NMDA receptor-mediated neuronal transmission
- Long-term potentiation
|
|
|
|
|
DLG2 and FZD1 |
discs large MAGUK scaffold protein 2 |
frizzled class receptor 1 |
- Unblocking of NMDA receptors, glutamate binding and activation
- Unblocking of NMDA receptors, glutamate binding and activation
- Ras activation upon Ca2+ influx through NMDA receptor
- RAF/MAP kinase cascade
- Neurexins and neuroligins
- Neurexins and neuroligins
- Assembly and cell surface presentation of NMDA receptors
- Negative regulation of NMDA receptor-mediated neuronal transmission
- Long-term potentiation
|
- TCF dependent signaling in response to WNT
- Class B/2 (Secretin family receptors)
- PCP/CE pathway
- PCP/CE pathway
- Asymmetric localization of PCP proteins
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
|
|
|
|
|
DLG2 and FZD4 |
discs large MAGUK scaffold protein 2 |
frizzled class receptor 4 |
- Unblocking of NMDA receptors, glutamate binding and activation
- Unblocking of NMDA receptors, glutamate binding and activation
- Ras activation upon Ca2+ influx through NMDA receptor
- RAF/MAP kinase cascade
- Neurexins and neuroligins
- Neurexins and neuroligins
- Assembly and cell surface presentation of NMDA receptors
- Negative regulation of NMDA receptor-mediated neuronal transmission
- Long-term potentiation
|
- Class B/2 (Secretin family receptors)
- Ca2+ pathway
- Ca2+ pathway
- Asymmetric localization of PCP proteins
- Regulation of FZD by ubiquitination
- WNT5A-dependent internalization of FZD4
- RNF mutants show enhanced WNT signaling and proliferation
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
|
|
|
|
- Familial exudative vitreoretinopathy (FEVR), including: Exudative vitreoretinopathy 1 (EVR1); Exudative vitreoretinopathy2, X-linked (EVR2); Exudative vitreoretinopathy 4 (EVR4); Exudative vitreoretinopathy 5 (EVR5); Norrie disease (ND)
|
DLG2 and FZD7 |
discs large MAGUK scaffold protein 2 |
frizzled class receptor 7 |
- Unblocking of NMDA receptors, glutamate binding and activation
- Unblocking of NMDA receptors, glutamate binding and activation
- Ras activation upon Ca2+ influx through NMDA receptor
- RAF/MAP kinase cascade
- Neurexins and neuroligins
- Neurexins and neuroligins
- Assembly and cell surface presentation of NMDA receptors
- Negative regulation of NMDA receptor-mediated neuronal transmission
- Long-term potentiation
|
- Class B/2 (Secretin family receptors)
- PCP/CE pathway
- PCP/CE pathway
- Asymmetric localization of PCP proteins
- WNT5:FZD7-mediated leishmania damping
- WNT5:FZD7-mediated leishmania damping
|
|
|
|
|
DLG2 and CACNG2 |
discs large MAGUK scaffold protein 2 |
calcium voltage-gated channel auxiliary subunit gamma 2 |
- Unblocking of NMDA receptors, glutamate binding and activation
- Unblocking of NMDA receptors, glutamate binding and activation
- Ras activation upon Ca2+ influx through NMDA receptor
- RAF/MAP kinase cascade
- Neurexins and neuroligins
- Neurexins and neuroligins
- Assembly and cell surface presentation of NMDA receptors
- Negative regulation of NMDA receptor-mediated neuronal transmission
- Long-term potentiation
|
- Presynaptic depolarization and calcium channel opening
- Trafficking of AMPA receptors
- Phase 0 - rapid depolarisation
- Phase 2 - plateau phase
- LGI-ADAM interactions
|
|
|
|
|
DLG2 and NLGN1 |
discs large MAGUK scaffold protein 2 |
neuroligin 1 |
- Unblocking of NMDA receptors, glutamate binding and activation
- Unblocking of NMDA receptors, glutamate binding and activation
- Ras activation upon Ca2+ influx through NMDA receptor
- RAF/MAP kinase cascade
- Neurexins and neuroligins
- Neurexins and neuroligins
- Assembly and cell surface presentation of NMDA receptors
- Negative regulation of NMDA receptor-mediated neuronal transmission
- Long-term potentiation
|
- Neurexins and neuroligins
- Neurexins and neuroligins
|
|
|
|
|
DLG2 and NLGN3 |
discs large MAGUK scaffold protein 2 |
neuroligin 3 |
- Unblocking of NMDA receptors, glutamate binding and activation
- Unblocking of NMDA receptors, glutamate binding and activation
- Ras activation upon Ca2+ influx through NMDA receptor
- RAF/MAP kinase cascade
- Neurexins and neuroligins
- Neurexins and neuroligins
- Assembly and cell surface presentation of NMDA receptors
- Negative regulation of NMDA receptor-mediated neuronal transmission
- Long-term potentiation
|
- Neurexins and neuroligins
- Neurexins and neuroligins
|
|
|
|
|
DLG2 and ERBB4 |
discs large MAGUK scaffold protein 2 |
erb-b2 receptor tyrosine kinase 4 |
- Unblocking of NMDA receptors, glutamate binding and activation
- Unblocking of NMDA receptors, glutamate binding and activation
- Ras activation upon Ca2+ influx through NMDA receptor
- RAF/MAP kinase cascade
- Neurexins and neuroligins
- Neurexins and neuroligins
- Assembly and cell surface presentation of NMDA receptors
- Negative regulation of NMDA receptor-mediated neuronal transmission
- Long-term potentiation
|
|
|
|
|
|