CHRNA3 and CHRNB4 |
cholinergic receptor nicotinic alpha 3 subunit |
cholinergic receptor nicotinic beta 4 subunit |
- Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
- Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
- Highly calcium permeable nicotinic acetylcholine receptors
|
- Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
- Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
- Highly calcium permeable nicotinic acetylcholine receptors
- Neutrophil degranulation
|
- Nicotine
- Dextromethorphan
- Galantamine
- Levamisole
- Ethanol
- Pentolinium
- Bupropion
- Levomethadyl Acetate
- Varenicline
- Epibatidine
- Cytisine
|
- Nicotine
- Dextromethorphan
- Galantamine
- Ethanol
- Pentolinium
- Levomethadyl Acetate
- Epibatidine
|
|
|
CHRNA4 and CHRNB4 |
cholinergic receptor nicotinic alpha 4 subunit |
cholinergic receptor nicotinic beta 4 subunit |
- Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
- Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
- Highly calcium permeable nicotinic acetylcholine receptors
|
- Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
- Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
- Highly calcium permeable nicotinic acetylcholine receptors
- Neutrophil degranulation
|
- Nicotine
- Butabarbital
- Butalbital
- Talbutal
- Pentobarbital
- Secobarbital
- Metharbital
- Dextromethorphan
- Carbamazepine
- Atropine
- Thiopental
- Mecamylamine
- Galantamine
- Scopolamine
- Estradiol
- Primidone
- Methylphenobarbital
- Ethanol
- Physostigmine
- Phenobarbital
- Decamethonium
- Varenicline
- Amobarbital
- Aprobarbital
- Butethal
- Heptabarbital
- Hexobarbital
- Barbital
- Barbituric acid derivative
- Pozanicline
- RPI-78M
- Epibatidine
- Cytisine
|
- Nicotine
- Dextromethorphan
- Galantamine
- Ethanol
- Pentolinium
- Levomethadyl Acetate
- Epibatidine
|
- Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE); Nocturnal frontal lobe epilepsy (NFLE)
|
|
CHRNA5 and CHRNB4 |
cholinergic receptor nicotinic alpha 5 subunit |
cholinergic receptor nicotinic beta 4 subunit |
- Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
- Highly calcium permeable nicotinic acetylcholine receptors
|
- Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
- Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
- Highly calcium permeable nicotinic acetylcholine receptors
- Neutrophil degranulation
|
- Nicotine
- Galantamine
- Ethanol
|
- Nicotine
- Dextromethorphan
- Galantamine
- Ethanol
- Pentolinium
- Levomethadyl Acetate
- Epibatidine
|
|
|
CSF2RA and CSF2RB |
colony stimulating factor 2 receptor subunit alpha |
colony stimulating factor 2 receptor subunit beta |
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- RAF/MAP kinase cascade
- Surfactant metabolism
- Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
- Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
- Interleukin receptor SHC signaling
|
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- RAF/MAP kinase cascade
- Surfactant metabolism
- Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
- Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
- Interleukin receptor SHC signaling
|
- Sargramostim
- KB002
- recombinant human GM-CSF
|
- Sargramostim
- NPI 32101
- Resatorvid
|
|
|
CSF2RB and HCK |
colony stimulating factor 2 receptor subunit beta |
HCK proto-oncogene, Src family tyrosine kinase |
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- RAF/MAP kinase cascade
- Surfactant metabolism
- Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
- Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
- Interleukin receptor SHC signaling
|
- 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
|
- Sargramostim
- NPI 32101
- Resatorvid
|
- 1-Ter-Butyl-3-P-Tolyl-1h-Pyrazolo[3,4-D]Pyrimidin-4-Ylamine
- Phosphonotyrosine
- Quercetin
- Bosutinib
|
|
|
CSNK1A1 and MAPT |
casein kinase 1 alpha 1 |
microtubule associated protein tau |
- Degradation of beta-catenin by the destruction complex
- Beta-catenin phosphorylation cascade
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- 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
- APC truncation mutants have impaired AXIN binding
- AXIN missense mutants destabilize the destruction complex
- Truncations of AMER1 destabilize the destruction complex
- Degradation of GLI2 by the proteasome
- GLI3 is processed to GLI3R by the proteasome
- Activation of SMO
- Activation of SMO
|
- Caspase-mediated cleavage of cytoskeletal proteins
|
|
- Lansoprazole
- Astemizole
- Paclitaxel
- Docetaxel
|
|
- Amyotrophic lateral sclerosis (ALS); Lou Gehrig's disease
- 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)
- Progressive supranuclear palsy (PSP); Steele-Richardson-Olszewski syndrome
|
CSNK1A1 and HSPA4 |
casein kinase 1 alpha 1 |
heat shock protein family A (Hsp70) member 4 |
- Degradation of beta-catenin by the destruction complex
- Beta-catenin phosphorylation cascade
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- 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
- APC truncation mutants have impaired AXIN binding
- AXIN missense mutants destabilize the destruction complex
- Truncations of AMER1 destabilize the destruction complex
- Degradation of GLI2 by the proteasome
- GLI3 is processed to GLI3R by the proteasome
- Activation of SMO
- Activation of SMO
|
- Regulation of HSF1-mediated heat shock response
|
|
|
|
|
CSNK1A1 and TNFRSF1B |
casein kinase 1 alpha 1 |
TNF receptor superfamily member 1B |
- Degradation of beta-catenin by the destruction complex
- Beta-catenin phosphorylation cascade
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- 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
- APC truncation mutants have impaired AXIN binding
- AXIN missense mutants destabilize the destruction complex
- Truncations of AMER1 destabilize the destruction complex
- Degradation of GLI2 by the proteasome
- GLI3 is processed to GLI3R by the proteasome
- Activation of SMO
- Activation of SMO
|
- TNFR2 non-canonical NF-kB pathway
- TNFs bind their physiological receptors
- Interleukin-10 signaling
- Interleukin-4 and Interleukin-13 signaling
- Neutrophil degranulation
|
|
|
|
- Graft-versus-host disease
|
CCN2 and TGFB2 |
cellular communication network factor 2 |
transforming growth factor beta 2 |
- YAP1- and WWTR1 (TAZ)-stimulated gene expression
- RUNX3 regulates YAP1-mediated transcription
|
- Platelet degranulation
- Molecules associated with elastic fibres
- ECM proteoglycans
|
|
|
|
- Graft-versus-host disease
- Allograft rejection
|
CTSH and SFTPB |
cathepsin H |
surfactant protein B |
- MHC class II antigen presentation
- Surfactant metabolism
- Neutrophil degranulation
|
- Surfactant metabolism
- Defective pro-SFTPB causes pulmonary surfactant metabolism dysfunction 1 (SMDP1) and respiratory distress syndrome (RDS)
- Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
- Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
|
- N1-(1-Dimethylcarbamoyl-2-Phenyl-Ethyl)-2-Oxo-N4-(2-Pyridin-2-Yl-Ethyl)-Succinamide
- Para-Toluene Sulfonate
- N-[1-Hydroxycarboxyethyl-Carbonyl]Leucylamino-2-Methyl-Butane
- CARBOBENZYLOXY-(L)-LEUCINYL-(L)LEUCINYL METHOXYMETHYLKETONE
|
|
|
- Pulmonary surfactant metabolism dysfunction (SMDP)
|
DCN and TGFB2 |
decorin |
transforming growth factor beta 2 |
- 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
- Molecules associated with elastic fibres
- ECM proteoglycans
|
|
|
- Congenital stromal corneal dystrophy (CSCD); Congenital hereditary stromal dystrophy; Witschel dystrophy
|
- Graft-versus-host disease
- Allograft rejection
|
DCN and SFTPD |
decorin |
surfactant protein D |
- 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
|
- Toll Like Receptor 4 (TLR4) Cascade
- Toll Like Receptor TLR1:TLR2 Cascade
- Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
- Signal regulatory protein family interactions
- Surfactant metabolism
- Regulation of TLR by endogenous ligand
- Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
- Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
|
|
|
- Congenital stromal corneal dystrophy (CSCD); Congenital hereditary stromal dystrophy; Witschel dystrophy
|
|
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 KCNJ2 |
discs large MAGUK scaffold protein 2 |
potassium inwardly rectifying channel subfamily J member 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
|
- Activation of G protein gated Potassium channels
- Classical Kir channels
- Phase 4 - resting membrane potential
- Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits
|
|
|
|
- Long QT syndrome, including: Romano-Ward syndrome; Jervell and Lange-Nielsen syndrome (JLNS)
- Atrial fibrillation
- Short QT syndrome
- Andersen-Tawil syndrome (ATS)
|
DLG2 and LRP2 |
discs large MAGUK scaffold protein 2 |
LDL receptor related protein 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
|
- Vitamin D (calciferol) metabolism
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- Retinoid metabolism and transport
|
|
- Urokinase
- Insulin Human
- Insulin Pork
- Gentamicin
|
|
- Donnai-Barrow syndrome; Faciooculoacousticorenal syndrome
|
DMBT1 and SFTPD |
deleted in malignant brain tumors 1 |
surfactant protein D |
|
- Toll Like Receptor 4 (TLR4) Cascade
- Toll Like Receptor TLR1:TLR2 Cascade
- Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
- Signal regulatory protein family interactions
- Surfactant metabolism
- Regulation of TLR by endogenous ligand
- Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
- Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
|
|
|
|
|
DOCK1 and BCAR1 |
dedicator of cytokinesis 1 |
BCAR1 scaffold protein, Cas family member |
- Regulation of actin dynamics for phagocytic cup formation
- DCC mediated attractive signaling
- DCC mediated attractive signaling
- VEGFA-VEGFR2 Pathway
- PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
- FCGR3A-mediated phagocytosis
- Factors involved in megakaryocyte development and platelet production
|
- Downstream signal transduction
- p130Cas linkage to MAPK signaling for integrins
- VEGFA-VEGFR2 Pathway
- VEGFA-VEGFR2 Pathway
- PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
|
|
|
|
|
DOCK1 and ELMO1 |
dedicator of cytokinesis 1 |
engulfment and cell motility 1 |
- Regulation of actin dynamics for phagocytic cup formation
- DCC mediated attractive signaling
- DCC mediated attractive signaling
- VEGFA-VEGFR2 Pathway
- PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
- FCGR3A-mediated phagocytosis
- Factors involved in megakaryocyte development and platelet production
|
- Nef and signal transduction
- Regulation of actin dynamics for phagocytic cup formation
- VEGFA-VEGFR2 Pathway
- PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
- FCGR3A-mediated phagocytosis
|
|
|
|
|
ENG and TGFB2 |
endoglin |
transforming growth factor beta 2 |
|
- Platelet degranulation
- Molecules associated with elastic fibres
- ECM proteoglycans
|
|
|
- Hereditary hemorrhagic telangiectasia (HHT)
|
- Graft-versus-host disease
- Allograft rejection
|
MECOM and HDAC4 |
MDS1 and EVI1 complex locus |
histone deacetylase 4 |
- PKMTs methylate histone lysines
- Regulation of PTEN gene transcription
- Regulation of PTEN gene transcription
|
- NOTCH1 Intracellular Domain Regulates Transcription
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- Notch-HLH transcription pathway
- SUMOylation of intracellular receptors
- SUMOylation of chromatin organization proteins
- RUNX2 regulates chondrocyte maturation
- RUNX3 regulates p14-ARF
|
|
- Zinc
- Belinostat
- Romidepsin
- Panobinostat
- N-hydroxy-5-[(3-phenyl-5,6-dihydroimidazo[1,2-a]pyrazin-7(8H)-yl)carbonyl]thiophene-2-carboxamide
- 2,2,2-TRIFLUORO-1-{5-[(3-PHENYL-5,6-DIHYDROIMIDAZO[1,2-A]PYRAZIN-7(8H)-YL)CARBONYL]THIOPHEN-2-YL}ETHANE-1,1-DIOL
|
- Chronic myeloid leukemia (CML)
|
- Brachydacytly-mental retardation syndrome and Smith-Magenis syndrome
|