Novel |
ACP1 |
acid phosphatase 1 |
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- Adenine
- 4-Nitrophenyl Phosphate
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Novel |
AIMP2 |
aminoacyl tRNA synthetase complex interacting multifunctional protein 2 |
- Selenoamino acid metabolism
- Cytosolic tRNA aminoacylation
- Transcriptional and post-translational regulation of MITF-M expression and activity
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Novel |
ALB |
albumin |
- Platelet degranulation
- Recycling of bile acids and salts
- Heme biosynthesis
- Heme degradation
- Scavenging of heme from plasma
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- Post-translational protein phosphorylation
- HDL remodeling
- Cytoprotection by HMOX1
- Aspirin ADME
- Prednisone ADME
- Ciprofloxacin ADME
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- Amsacrine
- Cefotaxime
- Phenol
- Norelgestromin
- Aniline
- Guaiacol
- Artenimol
- Silver
- Patent Blue
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Novel |
ANXA5 |
annexin A5 |
|
- Fluocinolone acetonide
- L-Alpha-Glycerophosphorylserine
- L-thioproline
- K201 free base
- sn-glycero-3-phosphoethanolamine
- 1,4-Dideoxy-O2-Sulfo-Glucuronic Acid
- N,O6-Disulfo-Glucosamine
- 1,4-Dideoxy-5-Dehydro-O2-Sulfo-Glucuronic Acid
- Copper
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|
Novel |
ATR |
ATR checkpoint kinase |
- Meiotic synapsis
- Activation of ATR in response to replication stress
- Regulation of HSF1-mediated heat shock response
- HDR through Single Strand Annealing (SSA)
- Processing of DNA double-strand break ends
- Presynaptic phase of homologous DNA pairing and strand exchange
- Fanconi Anemia Pathway
- TP53 Regulates Transcription of DNA Repair Genes
- Regulation of TP53 Activity through Phosphorylation
- G2/M DNA damage checkpoint
- Impaired BRCA2 binding to RAD51
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- Alveolar rhabdomyosarcoma
- Seckel syndrome
|
Novel |
BMX |
BMX non-receptor tyrosine kinase |
- Apoptotic cleavage of cellular proteins
- Synthesis of PIPs at the plasma membrane
|
- Fostamatinib
- Zanubrutinib
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|
Novel |
BTRC |
beta-transducin repeat containing E3 ubiquitin protein ligase |
- Activation of NF-kappaB in B cells
- Prolactin receptor signaling
- SCF-beta-TrCP mediated degradation of Emi1
- Vpu mediated degradation of CD4
- Degradation of beta-catenin by the destruction complex
- Downstream TCR signaling
- Regulation of PLK1 Activity at G2/M Transition
- FCERI mediated NF-kB activation
- Deactivation of the beta-catenin transactivating complex
- 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
- NIK-->noncanonical NF-kB signaling
- MAP3K8 (TPL2)-dependent MAPK1/3 activation
- Ubiquitin-Mediated Degradation of Phosphorylated Cdc25A
- Neddylation
- Interleukin-1 signaling
- GSK3B and BTRC:CUL1-mediated-degradation of NFE2L2
- Antigen processing: Ubiquitination & Proteasome degradation
- GSK3B-mediated proteasomal degradation of PD-L1(CD274)
- Degradation of CRY and PER proteins
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|
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Novel |
CACNA1S |
calcium voltage-gated channel subunit alpha1 S |
|
- Ergocalciferol
- Enflurane
- Ranolazine
- Phenytoin
- Isradipine
- Topiramate
- Nimodipine
- Nisoldipine
- Spironolactone
- Cinnarizine
- Nicardipine
- Magnesium sulfate
- Verapamil
- Levomenthol
- Ethanol
- Felodipine
- Nitrendipine
- Nitrendipine
- Miconazole
- Nifedipine
- Amiodarone
- Mibefradil
- Dronedarone
- Clevidipine
- Nilvadipine
- Nilvadipine
- Drotaverine
- Trimebutine
- Pinaverium
- Aranidipine
- Benidipine
- Cilnidipine
- Efonidipine
- Efonidipine
- Lacidipine
- Manidipine
- Butamben
- Bioallethrin
- Bioallethrin
- Fish oil
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- Hypokalemic periodic paralysis (HypoPP)
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Novel |
CAV1 |
caveolin 1 |
- Triglyceride catabolism
- eNOS activation
- NOSTRIN mediated eNOS trafficking
- Thyroxine biosynthesis
- Basigin interactions
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- VEGFR2 mediated vascular permeability
- RHOA GTPase cycle
- Extra-nuclear estrogen signaling
- RHOB GTPase cycle
- RHOC GTPase cycle
- CDC42 GTPase cycle
- RAC1 GTPase cycle
- RAC2 GTPase cycle
- RHOD GTPase cycle
- RHOQ GTPase cycle
- RHOH GTPase cycle
- RHOG GTPase cycle
- RHOJ GTPase cycle
- RAC3 GTPase cycle
- RHOF GTPase cycle
- FOXO-mediated transcription of cell cycle genes
- RND3 GTPase cycle
- RND2 GTPase cycle
- RND1 GTPase cycle
- SARS-CoV-1 targets host intracellular signalling and regulatory pathways
- SARS-CoV-2 targets host intracellular signalling and regulatory pathways
|
|
- Congenital generalized lipodystrophy (CGL)
|
Novel |
CBL |
Cbl proto-oncogene |
- 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
- Signaling by CSF1 (M-CSF) in myeloid cells
- Negative regulation of FLT3
- FLT3 signaling by CBL mutants
|
|
- 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)
|
Novel |
CCDC88A |
coiled-coil and HOOK domain protein 88A |
- RND3 GTPase cycle
- RND1 GTPase cycle
|
|
|
Novel |
CDH5 |
cadherin 5 |
- Adherens junctions interactions
- VEGFR2 mediated vascular permeability
- High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells
|
|
|
Novel |
CHIC2 |
cysteine rich hydrophobic domain 2 |
|
|
|
Novel |
COL18A1 |
collagen type XVIII alpha 1 chain |
- Collagen degradation
- Activation of Matrix Metalloproteinases
- Collagen biosynthesis and modifying enzymes
- Assembly of collagen fibrils and other multimeric structures
- Integrin cell surface interactions
- Laminin interactions
- Collagen chain trimerization
|
|
- Vitreoretinal degeneration, including: Stickler syndrome type I (STL1); Stickler syndrome type II (STL2); Snowflake vitreoretinal degeneration (SVD); Wagner syndrome 1 (WGN1); Knobloch syndrome (KNO); Enhanced S-cone syndrome (ESCS); Autosomal dominant vitreoretinochoroidopathy (ADVIRC)
- Polymicrogyria; Bilateral frontal polymicrogyria (BFP); Bilateral frontoparietal polymicrogyria (BFPP); Bilateral perisylvian polymicrogyria (BPP); Bilateral parasagittal parieto-occipital polymicrogyria (BPOP); Bilateral generalised polymicrogyria (BGP); Unilateral Polymicrogyria (ULP)
|
Novel |
CRK |
CRK proto-oncogene, adaptor protein |
- ARMS-mediated activation
- ARMS-mediated activation
- Downstream signal transduction
- Regulation of actin dynamics for phagocytic cup formation
- p130Cas linkage to MAPK signaling for integrins
- VEGFA-VEGFR2 Pathway
- PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
- MET activates RAP1 and RAC1
- MET receptor recycling
- Regulation of signaling by CBL
- FCGR3A-mediated phagocytosis
|
|
|
Novel |
CSF2RB |
colony stimulating factor 2 receptor subunit beta |
- 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 SMDP5
- Defective CSF2RA causes SMDP4
- Interleukin receptor SHC signaling
|
- Sargramostim
- NPI 32101
- Resatorvid
|
|
Novel |
CSNK1D |
casein kinase 1 delta |
- COPII-mediated vesicle transport
- 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
- Major pathway of rRNA processing in the nucleolus and cytosol
- AURKA Activation by TPX2
- The CRY:PER:kinase complex represses transactivation by the BMAL:CLOCK (ARNTL:CLOCK) complex
- Phosphorylation and nuclear translocation of the CRY:PER:kinase complex
|
|
|
Novel |
CTNNB1 |
catenin beta 1 |
- 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
- Signaling by GSK3beta mutants
- CTNNB1 S33 mutants aren't phosphorylated
- CTNNB1 S37 mutants aren't phosphorylated
- CTNNB1 S45 mutants aren't phosphorylated
- CTNNB1 T41 mutants aren't phosphorylated
- RHO GTPases activate IQGAPs
- Transcriptional Regulation by VENTX
- InlA-mediated entry of Listeria monocytogenes into host cells
- RUNX3 regulates WNT signaling
- Cardiogenesis
- Germ layer formation at gastrulation
- Regulation of CDH11 function
- Regulation of CDH11 function
- Regulation of CDH19 Expression and Function
- Regulation of CDH1 Function
- Degradation of CDH1
- Regulation of CDH1 posttranslational processing and trafficking to plasma membrane
- Formation of paraxial mesoderm
- Formation of axial mesoderm
- Formation of definitive endoderm
- Somitogenesis
- Regulation of MITF-M-dependent genes involved in pigmentation
- Regulation of MITF-M-dependent genes involved in cell cycle and proliferation
- Formation of the nephric duct
- CDH11 homotypic and heterotypic interactions
- Specification of the neural plate border
- High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells
- Transcriptional and post-translational regulation of MITF-M expression and activity
- Regulation of PD-L1(CD274) transcription
|
|
- Pilomatricoma; Epithelioma calcificans of Malherbe
- Gastric cancer
- Hepatocellular carcinoma
- Thyroid cancer
- Colorectal cancer
- Endometrial Cancer
|
Novel |
DNM2 |
dynamin 2 |
- Toll Like Receptor 4 (TLR4) Cascade
- Retrograde neurotrophin signalling
- Gap junction degradation
- Formation of annular gap junctions
- NOSTRIN mediated eNOS trafficking
- MHC class II antigen presentation
- Lysosome Vesicle Biogenesis
- Golgi Associated Vesicle Biogenesis
- Recycling pathway of L1
- Clathrin-mediated endocytosis
- NGF-stimulated transcription
- Degradation of CDH1
|
|
- Centronuclear myopathy
- Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
|
Novel |
DUSP19 |
dual specificity phosphatase 19 |
|
|
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