Novel |
BIRC6 |
baculoviral IAP repeat containing 6 |
|
|
|
Novel |
CLNS1A |
chloride nucleotide-sensitive channel 1A |
|
|
|
Novel |
DLG2 |
discs large MAGUK scaffold protein 2 |
- Unblocking of NMDA receptors, glutamate binding and activation
- Unblocking of NMDA receptors, glutamate binding and activation
- Ras activation upon Ca2+ influx through NMDA receptor
- RAF/MAP kinase cascade
- Neurexins and neuroligins
- Neurexins and neuroligins
- Assembly and cell surface presentation of NMDA receptors
- Negative regulation of NMDA receptor-mediated neuronal transmission
- Long-term potentiation
|
|
|
Novel |
DNMT3A |
DNA methyltransferase 3 alpha |
- PRC2 methylates histones and DNA
- RMTs methylate histone arginines
- SUMOylation of DNA methylation proteins
- DNA methylation
|
|
|
Novel |
HADHB |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta |
- Acyl chain remodeling of CL
- Beta oxidation of myristoyl-CoA to lauroyl-CoA
- mitochondrial fatty acid beta-oxidation of unsaturated fatty acids
- Beta oxidation of palmitoyl-CoA to myristoyl-CoA
- Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA
- Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA
- Beta oxidation of octanoyl-CoA to hexanoyl-CoA
- Beta oxidation of hexanoyl-CoA to butanoyl-CoA
|
|
|
Novel |
HMGB1 |
high mobility group box 1 |
- Apoptosis induced DNA fragmentation
- TAK1 activates NFkB by phosphorylation and activation of IKKs complex
- Regulation of TLR by endogenous ligand
- Neutrophil degranulation
- Advanced glycosylation endproduct receptor signaling
- Advanced glycosylation endproduct receptor signaling
- TRAF6 mediated NF-kB activation
|
- Chloroquine
- Ethyl pyruvate
|
|
Novel |
MSH2 |
mutS homolog 2 |
- Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)
- Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)
- Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)
- Defective Mismatch Repair Associated With MSH3
- Defective Mismatch Repair Associated With MSH2
- Defective Mismatch Repair Associated With MSH6
- TP53 Regulates Transcription of DNA Repair Genes
|
|
- Colorectal cancer
- Mismatch repair deficiency, including: Hereditary non-polyposis colorectal cancer (HNPCC); Lynch syndrome; Muir-Torre syndrome; Turcot syndrome
- Ovarian cancer
|
Novel |
NLRC4 |
NLR family CARD domain containing 4 |
- TP53 Regulates Transcription of Caspase Activators and Caspases
- The IPAF inflammasome
- The IPAF inflammasome
|
|
|
Novel |
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)
|
Novel |
SMC1A |
structural maintenance of chromosomes 1A |
- Meiotic synapsis
- Separation of Sister Chromatids
- Establishment of Sister Chromatid Cohesion
- Cohesin Loading onto Chromatin
- Resolution of Sister Chromatid Cohesion
- SUMOylation of DNA damage response and repair proteins
- Estrogen-dependent gene expression
|
|
- Cornelia de Lange syndrome (CdLS)
|
Novel |
TSPAN16 |
tetraspanin 16 |
|
|
|
Novel |
TTC19 |
tetratricopeptide repeat domain 19 |
|
|
- Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D); Complex II deficiency (MT-C2D); Complex III deficiency (MT-C3D); Complex IV deficiency (MT-C4D); Complex V deficiency (MT-ATPSD); Leigh syndrome (LS); Kearns-Sayre Syndrome (KSS); LCHD deficiency (LCHD); Leber Hereditary Optic Neuropathy (LHON); Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); NARP; MELAS; ACAD9 deficiency; HADH deficiency; HIBCH deficiency; GRACILE syndrome
|
|
DUSP19 |
dual specificity phosphatase 19 |
|
|
|
|
ERBB2 |
erb-b2 receptor tyrosine kinase 2 |
- Signaling by ERBB2
- SHC1 events in ERBB2 signaling
- SHC1 events in ERBB2 signaling
- PLCG1 events in ERBB2 signaling
- PIP3 activates AKT signaling
- GRB7 events in ERBB2 signaling
- Downregulation of ERBB2:ERBB3 signaling
- GRB2 events in ERBB2 signaling
- GRB2 events in ERBB2 signaling
- PI3K events in ERBB2 signaling
- Constitutive Signaling by Aberrant PI3K in Cancer
- Sema4D induced cell migration and growth-cone collapse
- RAF/MAP kinase cascade
- ERBB2 Regulates Cell Motility
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- ERBB2 Activates PTK6 Signaling
- Downregulation of ERBB2 signaling
- TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
- Constitutive Signaling by Overexpressed ERBB2
- Drug-mediated inhibition of ERBB2 signaling
- Signaling by ERBB2 KD Mutants
- Resistance of ERBB2 KD mutants to trastuzumab
- Resistance of ERBB2 KD mutants to sapitinib
- Resistance of ERBB2 KD mutants to tesevatinib
- Resistance of ERBB2 KD mutants to neratinib
- Resistance of ERBB2 KD mutants to osimertinib
- Resistance of ERBB2 KD mutants to afatinib
- Resistance of ERBB2 KD mutants to AEE788
- Resistance of ERBB2 KD mutants to lapatinib
- Signaling by ERBB2 ECD mutants
- Signaling by ERBB2 TMD/JMD mutants
- Drug resistance in ERBB2 TMD/JMD mutants
|
- Trastuzumab
- Lapatinib
- IGN311
- Trastuzumab emtansine
- Varlitinib
- AV-412
- Pertuzumab
- Afatinib
- Tucatinib
- Tesevatinib
- Fostamatinib
- Brigatinib
- Margetuximab
- Zanubrutinib
|
- Choriocarcinoma
- Pancreatic cancer
- Gastric cancer
- Bladder cancer
- Endometrial Cancer
- Ovarian cancer
- Cholangiocarcinoma
- Breast cancer
- Cervical cancer
|
|
IKBKG |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
- 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
- Downstream TCR signaling
- FCERI mediated NF-kB activation
- TAK1 activates NFkB by phosphorylation and activation of IKKs complex
- activated TAK1 mediates p38 MAPK activation
- JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1
- SUMOylation of immune response proteins
- 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
- CLEC7A (Dectin-1) signaling
- MAP3K8 (TPL2)-dependent MAPK1/3 activation
- Ub-specific processing proteases
- Ovarian tumor domain proteases
- 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
|
|
- Ectodermal dysplasia associated immunodeficiency (EDA-ID), including the following two diseases: NF-kappa-B essential modulator (NEMO) defect; Inhibitor of kappa-B (I-kappa-B) defect
- Incontinentia pigmenti
- Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID); Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema
|
|
IRS1 |
insulin receptor substrate 1 |
- PI3K Cascade
- IRS-mediated signalling
- SOS-mediated signalling
- SOS-mediated signalling
- PIP3 activates AKT signaling
- Interleukin-7 signaling
- PI3K/AKT activation
- PI3K/AKT activation
- Constitutive Signaling by Aberrant PI3K in Cancer
- IRS-related events triggered by IGF1R
- Signaling by Leptin
- RAF/MAP kinase cascade
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- IRS activation
- Signal attenuation
- Activated NTRK3 signals through PI3K
- Growth hormone receptor signaling
|
- [4-({5-(AMINOCARBONYL)-4-[(3-METHYLPHENYL)AMINO]PYRIMIDIN-2-YL}AMINO)PHENYL]ACETIC ACID
|
|
|
JAK3 |
Janus kinase 3 |
- Interleukin-7 signaling
- Interleukin-7 signaling
- RAF/MAP kinase cascade
- Interleukin-4 and Interleukin-13 signaling
- Interleukin-20 family signaling
- Interleukin-15 signaling
- Interleukin-15 signaling
- Interleukin-9 signaling
- Interleukin-2 signaling
- Interleukin-21 signaling
- Interleukin receptor SHC signaling
- Potential therapeutics for SARS
|
- 2-tert-butyl-9-fluoro-1,6-dihydrobenzo[h]imidazo[4,5-f]isoquinolin-7-one
- R-348
- Tofacitinib
- Baricitinib
- Fostamatinib
- Zanubrutinib
|
- 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
|
|
MDK |
midkine |
- NOTCH2 Activation and Transmission of Signal to the Nucleus
|
|
|
|
NPM1 |
nucleophosmin 1 |
- Nuclear import of Rev protein
- Nuclear import of Rev protein
- SUMOylation of transcription cofactors
- Deposition of new CENPA-containing nucleosomes at the centromere
- TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain
- TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation
|
|
|
|
PIK3R1 |
phosphoinositide-3-kinase regulatory subunit 1 |
- PI3K Cascade
- IRS-mediated signalling
- GPVI-mediated activation cascade
- Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
- PI3K events in ERBB4 signaling
- PIP3 activates AKT signaling
- Interleukin-7 signaling
- Interleukin-7 signaling
- Signaling by SCF-KIT
- Synthesis of PIPs at the plasma membrane
- GAB1 signalosome
- Signaling by cytosolic FGFR1 fusion mutants
- Downstream signal transduction
- PI3K events in ERBB2 signaling
- PI3K/AKT activation
- Downstream TCR signaling
- Role of phospholipids in phagocytosis
- Tie2 Signaling
- Constitutive Signaling by Aberrant PI3K in Cancer
- DAP12 signaling
- Role of LAT2/NTAL/LAB on calcium mobilization
- Nephrin family interactions
- Costimulation by the CD28 family
- CD28 dependent PI3K/Akt signaling
- G alpha (q) signalling events
- GP1b-IX-V activation signalling
- VEGFA-VEGFR2 Pathway
- VEGFA-VEGFR2 Pathway
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- Constitutive Signaling by EGFRvIII
- PI-3K cascade:FGFR1
- PI-3K cascade:FGFR2
- PI-3K cascade:FGFR3
- PI-3K cascade:FGFR4
- Signaling by FGFR2 in disease
- Signaling by FGFR4 in disease
- Signaling by FGFR1 in disease
- RAF/MAP kinase cascade
- Interleukin-4 and Interleukin-13 signaling
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- MET activates PI3K/AKT signaling
- Signaling by FGFR3 fusions in cancer
- Signaling by FGFR3 point mutants in cancer
- RET signaling
- Extra-nuclear estrogen signaling
- Erythropoietin activates Phosphoinositide-3-kinase (PI3K)
- Erythropoietin activates Phosphoinositide-3-kinase (PI3K)
- Activated NTRK2 signals through PI3K
- Interleukin receptor SHC signaling
- Regulation of signaling by CBL
- Regulation of signaling by CBL
- Activated NTRK3 signals through PI3K
- FLT3 Signaling
- FLT3 Signaling
- Signaling by ERBB2 KD Mutants
- Signaling by ERBB2 ECD 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 fusion proteins
- Signaling by FLT3 ITD and TKD mutants
- 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
|
- Isoprenaline
- SF1126
- Enzastaurin
- Wortmannin
|
|