|
|
PTPRC |
protein tyrosine phosphatase receptor type C |
- Phosphorylation of CD3 and TCR zeta chains
- Other semaphorin interactions
- Neutrophil degranulation
|
|
- T-B+Severe combined immunodeficiencies (SCIDs), including the following eight diseases: X-linked SCID; Janus kinase-3 (Jak3) deficiency; IL-7 receptor alpha (IL7R alpha) deficiency; IL-2 receptor alpha (IL2R alpha) deficiency; CD45 deficiency; CD3 deficiency; Winged Helix Nude (WHN) deficiency; Immunodeficiency with thynoma
|
|
|
RASA1 |
RAS p21 protein activator 1 |
- Downstream signal transduction
- EPHB-mediated forward signaling
- EPHB-mediated forward signaling
- VEGFR2 mediated cell proliferation
- Regulation of RAS by GAPs
- PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
|
|
- RASA1-related disorders, including: Parkes-Weber slndrome; Capillary malformation-arteriovenous malformation (CM-AVM); Arteriovenous fistula (AVF)
|
|
|
SPTAN1 |
spectrin alpha, non-erythrocytic 1 |
- Caspase-mediated cleavage of cytoskeletal proteins
- Nephrin family interactions
- NCAM signaling for neurite out-growth
- NCAM signaling for neurite out-growth
- Interaction between L1 and Ankyrins
- Interaction between L1 and Ankyrins
- RAF/MAP kinase cascade
- Neutrophil degranulation
- COPI-mediated anterograde transport
|
|
- Early infantile epileptic encephalopathy; Ohtahara syndrome
|
|
|
STAT5B |
signal transducer and activator of transcription 5B |
- Prolactin receptor signaling
- Interleukin-7 signaling
- Interleukin-7 signaling
- Signaling by SCF-KIT
- Signaling by cytosolic FGFR1 fusion mutants
- Downstream signal transduction
- Signaling by Leptin
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- Interleukin-20 family signaling
- Interleukin-15 signaling
- Interleukin-9 signaling
- Interleukin-2 signaling
- Interleukin-2 signaling
- Interleukin-21 signaling
- Erythropoietin activates STAT5
- STAT5 Activation
- Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants
- STAT5 activation downstream of FLT3 ITD mutants
- Signaling by FLT3 fusion proteins
- Growth hormone receptor signaling
- Growth hormone receptor signaling
|
|
- Growth hormone insensitivity with immunodeficiency
|
|
|
SYN1 |
synapsin I |
- Serotonin Neurotransmitter Release Cycle
- Dopamine Neurotransmitter Release Cycle
|
- Adenosine 5'-[gamma-thio]triphosphate
|
- Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS)
|
|
|
TERT |
telomerase reverse transcriptase |
- Telomere Extension By Telomerase
- Formation of the beta-catenin:TCF transactivating complex
|
- Zidovudine
- Grn163l
- Tertomotide
|
- Cri du chat syndrome; Cat cry syndrome; Chromosme 5p deletion syndrome
|
|
|
TNFRSF1A |
TNF receptor superfamily member 1A |
- TNFR1-induced proapoptotic signaling
- Regulation of TNFR1 signaling
- TNFR1-induced NFkappaB signaling pathway
- TNFR1-mediated ceramide production
- TNFs bind their physiological receptors
- Interleukin-10 signaling
- TNF signaling
|
- 6-[3-(4-Morpholinyl)Propyl]-2-(3-Nitrophenyl)-5-Thioxo-5,6,-Dihydro-7h-Thienol[2',3':4,5]Pyrrolo[1,2-C]Imidazol-7-One
- Tasonermin
|
- Tumor necrosis factor receptor-associated periodic syndrome (TRAPS); Familial periodic fever
|
|
|
TRPC6 |
transient receptor potential cation channel subfamily C member 6 |
- Effects of PIP2 hydrolysis
- Elevation of cytosolic Ca2+ levels
- TRP channels
- Role of second messengers in netrin-1 signaling
|
|
- Nephrotic syndrome and focal segmental glomerulosclerosis
|
|
|
XPA |
XPA, DNA damage recognition and repair factor |
- Formation of Incision Complex in GG-NER
- Dual Incision in GG-NER
- Formation of TC-NER Pre-Incision Complex
- Dual incision in TC-NER
|
|
- Disorders of nucleotide excision repair, including: Xeroderma pigmentosum (XP); Cockayne syndrome (CS); UV-sensitive syndrome (UVS); Trichothiodystrophy (TTD); Cerebro-oculo-facio-skeletal syndrome (COFS); XFE progeroid syndrome
|
|
|
YWHAE |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon |
- Activation of BAD and translocation to mitochondria
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Signaling by Hippo
- NADE modulates death signalling
- Regulation of PLK1 Activity at G2/M Transition
- Regulation of HSF1-mediated heat shock response
- HSF1 activation
- 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
- RHO GTPases activate PKNs
- TP53 Regulates Metabolic Genes
- Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex
- AURKA Activation by TPX2
- Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
- RAB GEFs exchange GTP for GDP on RABs
|
- Fusicoccin
- Phenethyl Isothiocyanate
|
- Lissencephaly (LIS); Miller-Dieker syndrome (MDLS)
|
|
|
ACTN1 |
actinin alpha 1 |
- Platelet degranulation
- Syndecan interactions
- Nephrin family interactions
- Regulation of cytoskeletal remodeling and cell spreading by IPP complex components
|
|
|
|
|
ADAM12 |
ADAM metallopeptidase domain 12 |
- Signaling by EGFR
- Invadopodia formation
|
|
|
|
|
ADAM15 |
ADAM metallopeptidase domain 15 |
- Degradation of the extracellular matrix
- Invadopodia formation
|
|
|
|
|
ADRB3 |
adrenoceptor beta 3 |
- Adrenoceptors
- G alpha (s) signalling events
- ADORA2B mediated anti-inflammatory cytokines production
|
- Amphetamine
- Bethanidine
- Olanzapine
- Norepinephrine
- Nortriptyline
- Propranolol
- Paroxetine
- Trimipramine
- Cryptenamine
- Alprenolol
- Terbutaline
- Salmeterol
- Pindolol
- Formoterol
- Salbutamol
- Ergoloid mesylate
- Isoprenaline
- Arbutamine
- Amiodarone
- Fenoterol
- Ephedra sinica root
- Mephentermine
- Clenbuterol
- Oxprenolol
- Celiprolol
- Nebivolol
- Amibegron
- Solabegron
- Droxidopa
- Bufuralol
- Bopindolol
- Bupranolol
- Mirabegron
- Racepinephrine
- Dihydroergocornine
- DL-Methylephedrine
- Dihydroergocristine
- Vibegron
|
|
|
|
AFAP1 |
actin filament associated protein 1 |
|
|
|
|
|
AFAP1L2 |
actin filament associated protein 1 like 2 |
|
|
|
|
|
AGAP1 |
ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 |
|
|
|
|
|
ANKRD11 |
ankyrin repeat domain 11 |
|
|
|
|
|
ANXA1 |
annexin A1 |
- G alpha (q) signalling events
- G alpha (i) signalling events
- Formyl peptide receptors bind formyl peptides and many other ligands
- Smooth Muscle Contraction
- Interleukin-4 and Interleukin-13 signaling
|
- Amcinonide
- Fluocinolone acetonide
- Hydrocortisone
- Methylprednisolone
- Clobetasol propionate
- Budesonide
- Dexamethasone
- Hydrocortisone aceponate
- Hydrocortisone acetate
- Hydrocortisone butyrate
- Hydrocortisone cypionate
- Hydrocortisone phosphate
- Hydrocortisone probutate
- Hydrocortisone valerate
- Prednisolone phosphate
- Dexamethasone acetate
- Betamethasone phosphate
|
|
|
|
ANXA2 |
annexin A2 |
- Smooth Muscle Contraction
- Neutrophil degranulation
- Dissolution of Fibrin Clot
- Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
|
- Tenecteplase
- Fluocinolone acetonide
- Lanoteplase
- Artenimol
|
|