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STAT1 |
signal transducer and activator of transcription 1 |
- Interleukin-6 signaling
- ISG15 antiviral mechanism
- Signaling by SCF-KIT
- Signaling by cytosolic FGFR1 fusion mutants
- Downstream signal transduction
- Interleukin-4 and Interleukin-13 signaling
- Interleukin-20 family signaling
- Regulation of RUNX2 expression and activity
- Interleukin-35 Signalling
- Interleukin-9 signaling
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH3 Intracellular Domain Regulates Transcription
- Interleukin-27 signaling
- Interleukin-21 signaling
- 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
- Growth hormone receptor signaling
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- Chronic Mucocutaneous Candidiasis (CMC); Familial candidiasis (CANDF)
- IFN-gamma/IL-12 axis, including the following five diseases: IL-12 p40 subunit deficiency; IL-12 receptor (IL-12R) beta1 chain deficiency; IFN-gamma receptor (IFN gamma R) alpha chain deficiency; IFN-gamma receptor (IFN gamma R) beta chain deficiency; STAT-1 deficiency
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STAT3 |
signal transducer and activator of transcription 3 |
- Interleukin-6 signaling
- BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
- Interleukin-7 signaling
- Interleukin-7 signaling
- Signaling by SCF-KIT
- Signaling by cytosolic FGFR1 fusion mutants
- Downstream signal transduction
- Signalling to STAT3
- Senescence-Associated Secretory Phenotype (SASP)
- Signaling by Leptin
- POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation
- Association of TriC/CCT with target proteins during biosynthesis
- Transcriptional regulation of pluripotent stem cells
- Interleukin-10 signaling
- Interleukin-4 and Interleukin-13 signaling
- PTK6 Activates STAT3
- PTK6 Activates STAT3
- Interleukin-20 family signaling
- MET activates STAT3
- MET activates STAT3
- Interleukin-15 signaling
- Interleukin-35 Signalling
- Interleukin-9 signaling
- Interleukin-37 signaling
- Interleukin-23 signaling
- Interleukin-23 signaling
- Interleukin-27 signaling
- Interleukin-21 signaling
- Transcriptional regulation of granulopoiesis
- 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
- Growth hormone receptor signaling
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- Other well-defined immunodeficiency syndromes, including the following seven diseases: Wiskott-Aldrich syndrome; DiGeorge syndrome; Hyper-IgE syndrome; X-linked lymphoproliferative syndrome; Immunodeficiency, Polyendocrinopathy, Enteropathy, X-linked Syndrome (IPEX); Cartilage-Hair Hypoplasia; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
- Oral cancer
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TNFRSF11A |
TNF receptor superfamily member 11a |
- TNFR2 non-canonical NF-kB pathway
- TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway
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- Paget's disease of bone and related disorders, including: ; Paget's disease of bone (PDB); Familial expansile osteolysis (FEO); Early-onset Paget's disease of bone (PDB2); Expansile skeletal hyperphosphatasia (ESH); Juvenile Paget's disease (JPD)
- Osteopetrosis, including: Osteopetrosis, severe neonatal or infantile forms; Osteopetrosis, intermediate forms; Osteopetrosis with renal tubular acidosis; Osteopetrosis, late-onset form type 1; Osteopetrosis, late-onset form type 2; Osteopetrosis, osteoclast poor
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VDR |
vitamin D receptor |
- Vitamin D (calciferol) metabolism
- Nuclear Receptor transcription pathway
- SUMOylation of intracellular receptors
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- Calcitriol
- Calcifediol
- Ergocalciferol
- Cholecalciferol
- Paricalcitol
- Dihydrotachysterol
- Alfacalcidol
- Calcipotriol
- Lexacalcitol
- Seocalcitol
- Cholesterol
- Inecalcitol
- Becocalcidiol
- CTA018
- Eldecalcitol
- Elocalcitol
- Doxercalciferol
- (1R,3R)-5-[(2E)-3-{(1S,3R)-2,2,3-trimethyl-3-[6,6,6-trifluoro-5-hydroxy-5-(trifluoromethyl)hex-3-yn-1-yl]cyclopentyl}prop-2-en-1-ylidene]cyclohexane-1,3-diol
- 1,3-CYCLOHEXANEDIOL, 4-METHYLENE-5-[(2E)-[(1S,3AS,7AS)-OCTAHYDRO-1-(5-HYDROXY-5-METHYL-1,3-HEXADIYNYL)-7A-METHYL-4H-INDEN-4-YLIDENE]ETHYLIDENE]-, (1R,3S,5Z)
- Vitamin D
- Curcumin
- Curcumin sulfate
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- Tuberculosis
- Localized autosomal recessive hypotrichosis
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ADRB2 |
adrenoceptor beta 2 |
- Adrenoceptors
- G alpha (s) signalling events
- Ub-specific processing proteases
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- ADORA2B mediated anti-inflammatory cytokines production
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- Spermine
- Amphetamine
- Betaxolol
- Bethanidine
- Isoetharine
- Cabergoline
- Metoprolol
- Olanzapine
- Atenolol
- Norepinephrine
- Timolol
- Phenylpropanolamine
- Dipivefrin
- Sotalol
- Carteolol
- Nortriptyline
- Propranolol
- Labetalol
- Bisoprolol
- Epinephrine
- Paroxetine
- Trimipramine
- Cryptenamine
- Orciprenaline
- Dobutamine
- Pseudoephedrine
- Alprenolol
- Ritodrine
- Terbutaline
- Bitolterol
- Phenoxybenzamine
- Salmeterol
- Pindolol
- Formoterol
- Salbutamol
- Ergoloid mesylate
- Isoprenaline
- Arbutamine
- Amiodarone
- Carvedilol
- Desipramine
- Propafenone
- Acebutolol
- Nadolol
- Levobunolol
- Metipranolol
- Aripiprazole
- Arformoterol
- Fenoterol
- Pirbuterol
- Bevantolol
- Penbutolol
- Ephedra sinica root
- Ephedrine
- Mephentermine
- Procaterol
- Clenbuterol
- Bambuterol
- Oxprenolol
- Putrescine
- Spermidine
- Celiprolol
- Nebivolol
- Indacaterol
- Bedoradrine
- NCX 950
- Asenapine
- Droxidopa
- Bufuralol
- Protokylol
- (S)-carazolol
- Bopindolol
- Bupranolol
- Befunolol
- Olodaterol
- Vilanterol
- Arotinolol
- Doxofylline
- Racepinephrine
- Dihydroergocornine
- DL-Methylephedrine
- Etafedrine
- Tulobuterol
- Levosalbutamol
- Dihydroergocristine
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AKT1 |
AKT serine/threonine kinase 1 |
- Activation of BAD and translocation to mitochondria
- PIP3 activates AKT signaling
- PIP3 activates AKT signaling
- Downregulation of ERBB2:ERBB3 signaling
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
- MTOR signalling
- AKT phosphorylates targets in the cytosol
- AKT phosphorylates targets in the cytosol
- AKT phosphorylates targets in the nucleus
- Negative regulation of the PI3K/AKT network
- eNOS activation
- AKT-mediated inactivation of FOXO1A
- Integrin signaling
- Deactivation of the beta-catenin transactivating complex
- CD28 dependent PI3K/Akt signaling
- CTLA4 inhibitory signaling
- G beta:gamma signalling through PI3Kgamma
- Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA
- KSRP (KHSRP) binds and destabilizes mRNA
- VEGFR2 mediated vascular permeability
- TP53 Regulates Metabolic Genes
- Constitutive Signaling by AKT1 E17K in Cancer
- Interleukin-4 and Interleukin-13 signaling
- Regulation of TP53 Degradation
- Regulation of TP53 Activity through Acetylation
- Regulation of TP53 Activity through Association with Co-factors
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- Cyclin E associated events during G1/S transition
- Cyclin A:Cdk2-associated events at S phase entry
- PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1
- RAB GEFs exchange GTP for GDP on RABs
- RUNX2 regulates genes involved in cell migration
- Regulation of PTEN stability and activity
- Extra-nuclear estrogen signaling
- Negative regulation of NOTCH4 signaling
- FLT3 Signaling
- Regulation of localization of FOXO transcription factors
- Estrogen-dependent nuclear events downstream of ESR-membrane signaling
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- ATP
- Arsenic trioxide
- Genistein
- Inositol 1,3,4,5-Tetrakisphosphate
- Resveratrol
- Archexin
- Enzastaurin
- Perifosine
- N-[2-(5-methyl-4H-1,2,4-triazol-3-yl)phenyl]-7H-pyrrolo[2,3-d]pyrimidin-4-amine
- 5-(5-chloro-7H-pyrrolo[2,3-d]pyrimidin-4-yl)-4,5,6,7-tetrahydro-1H-imidazo[4,5-c]pyridine
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- PTEN hamartoma tumor syndrome (PHTS), including: Cowden syndrome; Bannayan-Riley-Ruvalcaba syndrome; Proteus syndrome; Proteus-like syndrome
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ALDOB |
aldolase, fructose-bisphosphate B |
- Hereditary fructose intolerance
- Glycolysis
- Gluconeogenesis
- Fructose catabolism
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- 1,6-Fructose Diphosphate (Linear Form)
- sn-glycerol 3-phosphate
- Dihydroxyacetone phosphate
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- Hereditary fructose intolerance; Fructosemia
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BAAT |
bile acid-CoA:amino acid N-acyltransferase |
- Recycling of bile acids and salts
- Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
- Peroxisomal protein import
- Peroxisomal protein import
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- Peroxisomal beta-oxidation enzyme deficiency, including: Acyl-CoA oxidase (ACOX) deficiency; D-bifunctional protein (DBP) deficiency; Perrault syndrome; Sterol carrier protein X (SCPx) deficiency; 2-Methylacyl-CoA racemase (AMCR) deficiency; Hypercholanemia
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CASP8 |
caspase 8 |
- Apoptotic cleavage of cellular proteins
- Caspase activation via Death Receptors in the presence of ligand
- NOD1/2 Signaling Pathway
- TRIF-mediated programmed cell death
- Caspase-mediated cleavage of cytoskeletal proteins
- Regulation by c-FLIP
- RIPK1-mediated regulated necrosis
- CASP8 activity is inhibited
- TNFR1-induced proapoptotic signaling
- Regulation of TNFR1 signaling
- CLEC7A/inflammasome pathway
- Regulation of necroptotic cell death
- Dimerization of procaspase-8
- Activation, myristolyation of BID and translocation to mitochondria
- Apoptotic execution phase
- FasL/ CD95L signaling
- TRAIL signaling
- TLR3-mediated TICAM1-dependent programmed cell death
- NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
- Microbial modulation of RIPK1-mediated regulated necrosis
- Defective RIPK1-mediated regulated necrosis
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- Autoimmune lymphoproliferative syndromes (ALPS), including the following five diseases: CD95 (Fas) defect, ALPS type 1a; CD95L (Fas ligand) defect, ALPS type 1b; Caspase 10 defect, ALPS type 2a; Caspase 8 defext, ALPS type 2b; Activaing N-Ras defect, N-Ras ALPS
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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
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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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CD2AP |
CD2 associated protein |
- Nephrin family interactions
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- Nephrotic syndrome and focal segmental glomerulosclerosis
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CD44 |
CD44 molecule (Indian blood group) |
- Degradation of the extracellular matrix
- Cell surface interactions at the vascular wall
- Integrin cell surface interactions
- Hyaluronan uptake and degradation
- Neutrophil degranulation
- Interferon gamma signaling
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- Bivatuzumab
- Hyaluronic acid
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CD59 |
CD59 molecule (CD59 blood group) |
- COPII-mediated vesicle transport
- Cargo concentration in the ER
- Neutrophil degranulation
- COPI-mediated anterograde transport
- Regulation of Complement cascade
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- Complement regulatory protein defects, including the following six diseases: C1 inhibitor deficiency (hereditary angioedema); C4 binding protein alpha deficiency; C4 binding protein beta deficiency; Factor I deficiency; Decay-accelerating factor (CD55) deficiency; CD59 deficiency
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CDKN1B |
cyclin dependent kinase inhibitor 1B |
- SCF(Skp2)-mediated degradation of p27/p21
- AKT phosphorylates targets in the cytosol
- Senescence-Associated Secretory Phenotype (SASP)
- DNA Damage/Telomere Stress Induced Senescence
- RHO GTPases activate CIT
- Constitutive Signaling by AKT1 E17K in Cancer
- TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest
- Cyclin E associated events during G1/S transition
- Cyclin D associated events in G1
- p53-Dependent G1 DNA Damage Response
- Cyclin A:Cdk2-associated events at S phase entry
- PTK6 Regulates Cell Cycle
- FLT3 Signaling
- FOXO-mediated transcription of cell cycle genes
- Estrogen-dependent nuclear events downstream of ESR-membrane signaling
- Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)
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CHUK |
component of inhibitor of nuclear factor kappa B kinase complex |
- Activation of NF-kappaB in B cells
- Activation of NF-kappaB in B cells
- ER-Phagosome pathway
- NOD1/2 Signaling Pathway
- TICAM1, RIP1-mediated IKK complex recruitment
- RIP-mediated NFkB activation via ZBP1
- AKT phosphorylates targets in the cytosol
- Downstream TCR signaling
- FCERI mediated NF-kB activation
- TAK1 activates NFkB by phosphorylation and activation of IKKs complex
- Regulation of TNFR1 signaling
- TNFR1-induced NFkappaB signaling pathway
- IKBKB deficiency causes SCID
- IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR)
- IkBA variant leads to EDA-ID
- Dectin-1 mediated noncanonical NF-kB signaling
- CLEC7A (Dectin-1) signaling
- Constitutive Signaling by AKT1 E17K in Cancer
- NIK-->noncanonical NF-kB signaling
- MAP3K8 (TPL2)-dependent MAPK1/3 activation
- Interleukin-1 signaling
- TRAF6 mediated NF-kB activation
- NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
- IRAK1 recruits IKK complex
- IKK complex recruitment mediated by RIP1
- IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation
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- Aminosalicylic acid
- Mesalazine
- Sulfasalazine
- Acetylcysteine
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DAG1 |
dystroglycan 1 |
- 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
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- Limb-girdle muscular dystrophy (LGMD)
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DDR2 |
discoidin domain receptor tyrosine kinase 2 |
- Non-integrin membrane-ECM interactions
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- Spondylometaepiphyseal dysplasia, short limb-hand type; Spondylometaepiphyseal dysplasia, short limb-abnormal calcification type
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EFNB1 |
ephrin B1 |
- EPH-Ephrin signaling
- EPH-Ephrin signaling
- EPHB-mediated forward signaling
- EPHB-mediated forward signaling
- Ephrin signaling
- Ephrin signaling
- EPH-ephrin mediated repulsion of cells
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- Craniosynostosis, including: Pfeiffer syndrome; Apert syndrome; Crouzon syndrome; Jackson-Weiss syndrome; Beare-Stevenson syndrome; Muenke craniosynostosis; Saethre-Chotzen syndrome; Craniosynostosis Boston type; Antley-Bixler syndrome; Carpenter syndrome; Craniofrontonasal dysplasia; Noonan syndrome; Baller-Gerold syndrome
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EGLN1 |
egl-9 family hypoxia inducible factor 1 |
- Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
- Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
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- Ascorbic acid
- Iron
- Roxadustat
- N-[(4-HYDROXY-8-IODOISOQUINOLIN-3-YL)CARBONYL]GLYCINE
- FG-2216
- Ferrous gluconate
- Ferrous succinate
- Ferrous ascorbate
- Ferrous fumarate
- Ferrous glycine sulfate
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- Congenital polycythemia; Familial erythrocytosis (ECYT)
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