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)
- Transport of organic anions
- Post-translational protein phosphorylation
- HDL remodeling
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- Amsacrine
- Cefotaxime
- Pyridostigmine
- Phenol
- Norelgestromin
- Aniline
- Guaiacol
- Artenimol
- Silver
- Patent Blue
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Novel |
CACNA1S |
calcium voltage-gated channel subunit alpha1 S |
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- Ergocalciferol
- Enflurane
- Ranolazine
- Phenytoin
- Isradipine
- Topiramate
- Nimodipine
- Nisoldipine
- Spironolactone
- Cinnarizine
- Magnesium sulfate
- Levomenthol
- Ethanol
- Felodipine
- Nitrendipine
- Miconazole
- Nifedipine
- Amiodarone
- Mibefradil
- Dronedarone
- Clevidipine
- Nilvadipine
- Trimebutine
- Pinaverium
- Aranidipine
- Benidipine
- Cilnidipine
- Lacidipine
- Manidipine
- Butamben
- Bioallethrin
- Bioallethrin
- Fish oil
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- Hypokalemic periodic paralysis (HypoPP)
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Novel |
CHIC2 |
cysteine rich hydrophobic domain 2 |
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Novel |
GSTA2 |
glutathione S-transferase alpha 2 |
- Glutathione conjugation
- Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
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- Glutathione
- Chloroquine
- Glutathione disulfide
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Novel |
KIT |
KIT proto-oncogene, receptor tyrosine kinase |
- PIP3 activates AKT signaling
- Signaling by SCF-KIT
- Signaling by SCF-KIT
- Regulation of KIT signaling
- Regulation of KIT signaling
- Constitutive Signaling by Aberrant PI3K in Cancer
- RAF/MAP kinase cascade
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
- Dasatinib-resistant KIT mutants
- Imatinib-resistant KIT mutants
- KIT mutants bind TKIs
- Masitinib-resistant KIT mutants
- Nilotinib-resistant KIT mutants
- Regorafenib-resistant KIT mutants
- Signaling by kinase domain mutants of KIT
- Sunitinib-resistant KIT mutants
- Signaling by juxtamembrane domain KIT mutants
- Sorafenib-resistant KIT mutants
- Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants
- Signaling by extracellular domain mutants of KIT
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- Sorafenib
- Imatinib
- Dasatinib
- Sunitinib
- Phosphonotyrosine
- Nilotinib
- XL820
- OSI-930
- ABT-869
- Pazopanib
- Midostaurin
- Regorafenib
- Ponatinib
- Lenvatinib
- Ancestim
- Fostamatinib
- Erdafitinib
- Amuvatinib
- Pexidartinib
- Ripretinib
- Avapritinib
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- Piebaldism
- Acute myeloid leukemia (AML)
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Novel |
SHOX2 |
short stature homeobox 2 |
|
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|
Novel |
SRP72 |
signal recognition particle 72 |
- SRP-dependent cotranslational protein targeting to membrane
- SRP-dependent cotranslational protein targeting to membrane
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|
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Novel |
UTP3 |
UTP3 small subunit processome component |
- rRNA modification in the nucleus and cytosol
- Major pathway of rRNA processing in the nucleolus and cytosol
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ACP1 |
acid phosphatase 1 |
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- Adenine
- 4-Nitrophenyl Phosphate
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AIMP2 |
aminoacyl tRNA synthetase complex interacting multifunctional protein 2 |
- Selenoamino acid metabolism
- Cytosolic tRNA aminoacylation
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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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|
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ATR |
ATR serine/threonine 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
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- Alveolar rhabdomyosarcoma
- Seckel syndrome
|
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BMX |
BMX non-receptor tyrosine kinase |
- Apoptotic cleavage of cellular proteins
- Synthesis of PIPs at the plasma membrane
|
- Fostamatinib
- Zanubrutinib
|
|
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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
- Circadian Clock
- 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
- Neddylation
- Interleukin-1 signaling
- Antigen processing: Ubiquitination & Proteasome degradation
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CAV1 |
caveolin 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
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- Congenital generalized lipodystrophy (CGL)
|
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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
- 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)
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CCDC88A |
coiled-coil domain containing 88A |
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CDH5 |
cadherin 5 |
- Adherens junctions interactions
- VEGFR2 mediated vascular permeability
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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
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- 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)
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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
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