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C2 |
complement C2 |
- Initial triggering of complement
- Activation of C3 and C5
- Regulation of Complement cascade
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- Classic complement pathway component defects, including the following eight diseases: C1q alpha-chain deficiency; C1q beta-chain deficiency; C1q gamma-chain deficiency; C1r deficiency; C1s deficiency; C2 deficiency; C3 deficiency; C4 deficiency
- Systemic lupus erythematosus
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COL8A2 |
collagen type VIII alpha 2 chain |
- Collagen degradation
- Collagen degradation
- Collagen biosynthesis and modifying enzymes
- Assembly of collagen fibrils and other multimeric structures
- Integrin cell surface interactions
- Collagen chain trimerization
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- Posterior polymorphous corneal dystrophy (PPCD)
- Fuchs corneal dystrophy (FECD); Fuchs endothelial corneal dystrophy
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ERBB3 |
erb-b2 receptor tyrosine kinase 3 |
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- Lethal congenital contractural syndrome (LCCS)
- Type I diabetes mellitus
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GDNF |
glial cell derived neurotrophic factor |
- NCAM1 interactions
- RAF/MAP kinase cascade
- RET signaling
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- Hirschsprung disease (HD)
- Congenital central hypoventilation syndrome (CCHS)
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JUP |
junction plakoglobin |
- Adherens junctions interactions
- VEGFR2 mediated vascular permeability
- Neutrophil degranulation
- Keratinization
- Formation of the cornified envelope
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- Arrhythmogenic right ventricular cardiomyopathy (ARVC)
- Naxos disease and Carvajal syndrome
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PLP1 |
proteolipid protein 1 |
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- Hereditary spastic paraplegia (SPG)
- Hypomyelinating leukodystrophy (HLD); Pelizaeus-Merzbacher disease (PMD)
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ADAM33 |
ADAM metallopeptidase domain 33 |
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ADIPOQ |
adiponectin, C1Q and collagen domain containing |
- AMPK inhibits chREBP transcriptional activation activity
- AMPK inhibits chREBP transcriptional activation activity
- Transcriptional regulation of white adipocyte differentiation
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APOA2 |
apolipoprotein A2 |
- PPARA activates gene expression
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- Post-translational protein phosphorylation
- Chylomicron assembly
- Chylomicron remodeling
- Retinoid metabolism and transport
- Retinoid metabolism and transport
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APP |
amyloid beta precursor protein |
- Platelet degranulation
- ECM proteoglycans
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- G alpha (q) signalling events
- G alpha (i) signalling events
- Lysosome Vesicle Biogenesis
- Formyl peptide receptors bind formyl peptides and many other ligands
- TAK1 activates NFkB by phosphorylation and activation of IKKs complex
- The NLRP3 inflammasome
- Advanced glycosylation endproduct receptor signaling
- Advanced glycosylation endproduct receptor signaling
- Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
- Post-translational protein phosphorylation
- TRAF6 mediated NF-kB activation
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
- Purinergic signaling in leishmaniasis infection
- Amyloid fiber formation
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- Deferoxamine
- Aluminium
- Zinc
- L-methionine (R)-S-oxide
- Resveratrol
- Tromethamine
- Phenserine
- Tetrathiomolybdate
- CAD106
- Mito-4509
- Edonerpic
- Dimercaprol
- Copper
- Florbetaben (18F)
- Florbetapir (18F)
- Flutemetamol (18F)
- Zinc acetate
- Aluminium phosphate
- Aluminum acetate
- Zinc chloride
- Zinc sulfate, unspecified form
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AQP2 |
aquaporin 2 |
- Vasopressin regulates renal water homeostasis via Aquaporins
- Passive transport by Aquaporins
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- Congenital nephrogenic diabetes insipidus (NDI)
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BMI1 |
BMI1 proto-oncogene, polycomb ring finger |
- Oxidative Stress Induced Senescence
- SUMOylation of DNA damage response and repair proteins
- SUMOylation of transcription cofactors
- SUMOylation of chromatin organization proteins
- SUMOylation of RNA binding proteins
- SUMOylation of DNA methylation proteins
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- Regulation of PTEN gene transcription
- Regulation of PTEN gene transcription
- Transcriptional Regulation by E2F6
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CTSA |
cathepsin A |
- Glycosphingolipid metabolism
- MHC class II antigen presentation
- Sialic acid metabolism
- Defective NEU1 causes sialidosis
- Neutrophil degranulation
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LCK |
LCK proto-oncogene, Src family tyrosine kinase |
- GPVI-mediated activation cascade
- PIP3 activates AKT signaling
- Signaling by SCF-KIT
- Signaling by SCF-KIT
- Regulation of KIT signaling
- Nef and signal transduction
- Nef Mediated CD4 Down-regulation
- Downstream TCR signaling
- Phosphorylation of CD3 and TCR zeta chains
- Translocation of ZAP-70 to Immunological synapse
- Generation of second messenger molecules
- PECAM1 interactions
- Constitutive Signaling by Aberrant PI3K in Cancer
- DAP12 signaling
- DAP12 signaling
- CD28 co-stimulation
- CD28 dependent PI3K/Akt signaling
- CD28 dependent Vav1 pathway
- CTLA4 inhibitory signaling
- PD-1 signaling
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- Interleukin-2 signaling
- Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants
- FLT3 signaling through SRC family kinases
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- Dasatinib
- AP-22408
- Staurosporine
- 1-Tert-Butyl-3-(4-Chloro-Phenyl)-1h-Pyrazolo[3,4-D]Pyrimidin-4-Ylamine
- {4-[(2S)-2-Acetamido-3-({(1S)-1-[3-carbamoyl-4-(cyclohexylmethoxy)phenyl]ethyl}amino)-3-oxopropyl]-2-phosphonophenoxy}acetic acid
- Phosphoaminophosphonic Acid-Adenylate Ester
- 3-(2-AMINOQUINAZOLIN-6-YL)-4-METHYL-N-[3-(TRIFLUOROMETHYL)PHENYL]BENZAMIDE
- 2,3-DIPHENYL-N-(2-PIPERAZIN-1-YLETHYL)FURO[2,3-B]PYRIDIN-4-AMINE
- 5,6-DIPHENYL-N-(2-PIPERAZIN-1-YLETHYL)FURO[2,3-D]PYRIMIDIN-4-AMINE
- N-(2-chlorophenyl)-5-phenylimidazo[1,5-a]pyrazin-8-amine
- N-(2,6-dimethylphenyl)-5-phenylimidazo[1,5-a]pyrazin-8-amine
- N-(2-chloro-6-methylphenyl)-8-[(3S)-3-methylpiperazin-1-yl]imidazo[1,5-a]quinoxalin-4-amine
- Ponatinib
- Nintedanib
- Fostamatinib
- Zanubrutinib
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- Combined immunodeficiencies (CIDs), including the following nine diseases: X-linked hyper IgM syndrome; CD40 deficiency hyper IgM syndrome; Purine nucleoside phosphorylase (PNP) deficiency; Omenn syndrome; MHC deficiency (HLA-class I); MHC deficiency (HLA-class II); Zap-70 deficiency; p56 Lck deficiency; CD8 deficiency
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RFT1 |
RFT1 homolog |
- Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
- Defective RFT1 causes RFT1-CDG (CDG-1n)
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- Congenital disorders of glycosylation (CDG) type I
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SFTPC |
surfactant protein C |
- Surfactant metabolism
- Defective pro-SFTPC causes SMDP2 and RDS
- Defective CSF2RB causes SMDP5
- Defective CSF2RA causes SMDP4
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- Pulmonary surfactant metabolism dysfunction (SMDP)
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SLC30A8 |
solute carrier family 30 member 8 |
- Insulin processing
- Zinc efflux and compartmentalization by the SLC30 family
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- Type II diabetes mellitus
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SOS1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
- SOS-mediated signalling
- SOS-mediated signalling
- Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
- SHC1 events in ERBB2 signaling
- SHC1 events in ERBB4 signaling
- Signaling by SCF-KIT
- Regulation of KIT signaling
- Signalling to RAS
- Signalling to RAS
- GRB2 events in EGFR signaling
- SHC1 events in EGFR signaling
- Downstream signal transduction
- NRAGE signals death through JNK
- Rho GTPase cycle
- GRB2 events in ERBB2 signaling
- GRB2 events in ERBB2 signaling
- Tie2 Signaling
- EGFR Transactivation by Gastrin
- DAP12 signaling
- SHC-related events triggered by IGF1R
- SHC-related events triggered by IGF1R
- Role of LAT2/NTAL/LAB on calcium mobilization
- Role of LAT2/NTAL/LAB on calcium mobilization
- FCERI mediated MAPK activation
- FCERI mediated Ca+2 mobilization
- FCERI mediated Ca+2 mobilization
- GRB2:SOS provides linkage to MAPK signaling for Integrins
- NCAM signaling for neurite out-growth
- G alpha (12/13) signalling events
- Activation of RAC1
- Constitutive Signaling by EGFRvIII
- SHC-mediated cascade:FGFR1
- FRS-mediated FGFR1 signaling
- SHC-mediated cascade:FGFR2
- FRS-mediated FGFR2 signaling
- SHC-mediated cascade:FGFR3
- FRS-mediated FGFR3 signaling
- FRS-mediated FGFR4 signaling
- SHC-mediated cascade:FGFR4
- Signaling by FGFR2 in disease
- Signaling by FGFR4 in disease
- Signaling by FGFR1 in disease
- RAF/MAP kinase cascade
- Signal attenuation
- Insulin receptor signalling cascade
- Insulin receptor signalling cascade
- MET activates RAS signaling
- Signaling by FGFR3 fusions in cancer
- Signaling by FGFR3 point mutants in cancer
- RET signaling
- Interleukin-15 signaling
- Activated NTRK2 signals through RAS
- Erythropoietin activates RAS
- Activated NTRK2 signals through FRS2 and FRS3
- Activated NTRK2 signals through FRS2 and FRS3
- Activated NTRK3 signals through RAS
- Interleukin receptor SHC signaling
- FLT3 Signaling
- Constitutive Signaling by Overexpressed ERBB2
- Signaling by ERBB2 KD Mutants
- Signaling by ERBB2 ECD mutants
- Signaling by ERBB2 TMD/JMD mutants
- Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants
- Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants
- Signaling by PDGFRA extracellular domain mutants
- Signaling by FLT3 fusion proteins
- Signaling by FLT3 ITD and TKD mutants
- Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
- Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
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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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THBD |
thrombomodulin |
- Common Pathway of Fibrin Clot Formation
- Cell surface interactions at the vascular wall
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- Drotrecogin alfa
- Ibuprofen
- Dexibuprofen
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VKORC1 |
vitamin K epoxide reductase complex subunit 1 |
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- Menadione
- Dicoumarol
- Phenindione
- Warfarin
- Phenprocoumon
- Acenocoumarol
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- Combined deficiency of vitamin K-dependent clotting factors (VKCFD)
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