Novel |
KMT2A |
lysine methyltransferase 2A |
- PKMTs methylate histone lysines
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- Transcriptional regulation of granulopoiesis
|
|
- Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia)
- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
|
Novel |
VWA5A |
von Willebrand factor A domain containing 5A |
|
|
|
|
ABCC2 |
ATP binding cassette subfamily C member 2 |
- Heme degradation
- ABC-family proteins mediated transport
- Defective ABCC2 causes DJS
|
|
- Hyperbilirubinemia; Crigler-Najjar syndrome, type I (CN1); Crigler-Najjar syndrome, type II (CN2); Gilbert Syndrome; Dubin-Johnson syndrome (DJS)
|
|
ARHGDIA |
Rho GDP dissociation inhibitor alpha |
- Axonal growth inhibition (RHOA activation)
- Rho GTPase cycle
- Axonal growth stimulation
|
|
|
|
C1QTNF9 |
C1q and TNF related 9 |
|
|
|
|
CALM1 |
calmodulin 1 |
- CaMK IV-mediated phosphorylation of CREB
- CaMK IV-mediated phosphorylation of CREB
- Calmodulin induced events
- Cam-PDE 1 activation
- CaM pathway
- Platelet degranulation
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
- PKA activation
- DARPP-32 events
- Synthesis of IP3 and IP4 in the cytosol
- Calcineurin activates NFAT
- Calcineurin activates NFAT
- eNOS activation
- Transcriptional activation of mitochondrial biogenesis
- Inactivation, recovery and regulation of the phototransduction cascade
- Inactivation, recovery and regulation of the phototransduction cascade
- Stimuli-sensing channels
- FCERI mediated Ca+2 mobilization
- FCERI mediated Ca+2 mobilization
- Ca2+ pathway
- Reduction of cytosolic Ca++ levels
- Sodium/Calcium exchangers
- Unblocking of NMDA receptors, glutamate binding and activation
- CREB1 phosphorylation through the activation of Adenylate Cyclase
- CREB1 phosphorylation through the activation of CaMKII/CaMKK/CaMKIV cascasde
- CREB1 phosphorylation through the activation of CaMKII/CaMKK/CaMKIV cascasde
- Ras activation upon Ca2+ influx through NMDA receptor
- Smooth Muscle Contraction
- Smooth Muscle Contraction
- Activation of Ca-permeable Kainate Receptor
- Uptake and function of anthrax toxins
- VEGFR2 mediated vascular permeability
- VEGFR2 mediated cell proliferation
- Phase 0 - rapid depolarisation
- Ion homeostasis
- CLEC7A (Dectin-1) induces NFAT activation
- CLEC7A (Dectin-1) induces NFAT activation
- RHO GTPases activate IQGAPs
- RHO GTPases activate PAKs
- RHO GTPases activate PAKs
- RAF activation
- RAF/MAP kinase cascade
- Signaling by moderate kinase activity BRAF mutants
- Signaling by BRAF and RAF fusions
- Paradoxical activation of RAF signaling by kinase inactive BRAF
- Glycogen breakdown (glycogenolysis)
- Glycogen breakdown (glycogenolysis)
- Protein methylation
- Extra-nuclear estrogen signaling
- Loss of phosphorylation of MECP2 at T308
- Regulation of MECP2 expression and activity
- Ion transport by P-type ATPases
- Negative regulation of NMDA receptor-mediated neuronal transmission
- Activation of RAC1 downstream of NMDARs
- Activation of RAC1 downstream of NMDARs
- Activation of AMPK downstream of NMDARs
- Long-term potentiation
- Long-term potentiation
- RAS processing
- Signaling downstream of RAS mutants
- Signaling by RAF1 mutants
- FCGR3A-mediated IL10 synthesis
- FCGR3A-mediated IL10 synthesis
- Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
|
- Chlorpromazine
- Cinchocaine
- Nicardipine
- Fluphenazine
- Isoflurane
- Trifluoperazine
- Loperamide
- Perphenazine
- Phenoxybenzamine
- Felodipine
- Melatonin
- Promethazine
- Pimozide
- Nifedipine
- Bepridil
- Calcium
- Aprindine
- Deacetoxyvinzolidine
- tert-butanol
- Trimethyllysine
- N-(6-Aminohexyl)-5-Chloro-1-Naphthalenesulfonamide
- Prenylamine
- Flunarizine
- (3Z)-N,N-DIMETHYL-2-OXO-3-(4,5,6,7-TETRAHYDRO-1H-INDOL-2-YLMETHYLIDENE)-2,3-DIHYDRO-1H-INDOLE-5-SULFONAMIDE
- Myristic acid
- Calcium citrate
- Calcium citrate
- Calcium citrate
- Calcium Phosphate
- Calcium Phosphate
- Calcium Phosphate
- Calcium levulinate
- Calcium phosphate dihydrate
- Calcium phosphate dihydrate
- Calcium phosphate dihydrate
|
|
|
CPNE1 |
copine 1 |
- Glycerophospholipid biosynthesis
- Neutrophil degranulation
|
|
|
|
CPNE2 |
copine 2 |
|
|
|
|
CPNE4 |
copine 4 |
|
|
|
|
DRD3 |
dopamine receptor D3 |
- Dopamine receptors
- G alpha (i) signalling events
|
- Ziprasidone
- Cabergoline
- Ropinirole
- Olanzapine
- Clozapine
- Sulpiride
- Loxapine
- Remoxipride
- Pramipexole
- Chlorpromazine
- Buspirone
- Haloperidol
- Amoxapine
- Lisuride
- Apomorphine
- Dopamine
- Ergoloid mesylate
- Pimozide
- Domperidone
- Pergolide
- Bromocriptine
- Quetiapine
- Levodopa
- Aripiprazole
- Chlorprothixene
- Paliperidone
- Yohimbine
- Methotrimeprazine
- Iloperidone
- Rotigotine
- ACP-104
- Cariprazine
- Mianserin
- Asenapine
- Amisulpride
- Sarizotan
- Sumanirole
- Captodiame
- AS-8112
- Blonanserin
- Pipamperone
- Tianeptine
- Dihydro-alpha-ergocryptine
- Epicriptine
- Pardoprunox
- Piribedil
- Tiapride
- Dihydroergocristine
- Aripiprazole lauroxil
|
|
|
EZR |
ezrin |
- Netrin-1 signaling
- Recycling pathway of L1
- Recycling pathway of L1
|
|
|
|
GNA13 |
G protein subunit alpha 13 |
- NRAGE signals death through JNK
- Rho GTPase cycle
- G alpha (12/13) signalling events
- Thromboxane signalling through TP receptor
- Thrombin signalling through proteinase activated receptors (PARs)
- Thrombin signalling through proteinase activated receptors (PARs)
|
|
|
|
ICAM2 |
intercellular adhesion molecule 2 |
- Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
- Integrin cell surface interactions
- CD209 (DC-SIGN) signaling
|
|
|
|
ITGB2 |
integrin subunit beta 2 |
- Toll Like Receptor 4 (TLR4) Cascade
- Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
- Cell surface interactions at the vascular wall
- Integrin cell surface interactions
- Interleukin-4 and Interleukin-13 signaling
- Neutrophil degranulation
|
|
- Leukocyte adhesion deficiency (LAD), including the following four diseases: Leukocyte adhesion deficiency (I); Leukocyte adhesion deficiency (II); Leukocyte adhesion deficiency (III); LAD with Rac2 deficiency
|
|
L1CAM |
L1 cell adhesion molecule |
- Basigin interactions
- L1CAM interactions
- L1CAM interactions
- Recycling pathway of L1
- Recycling pathway of L1
- Interaction between L1 and Ankyrins
- Interaction between L1 and Ankyrins
- Signal transduction by L1
|
|
- Hereditary spastic paraplegia (SPG)
- 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)
- L1 syndrome, including: ; X-linked hydrocephalus; MASA syndrome; X-linked complicated spastic paraplegia type I ; X-linked partial agenesis of corpus callosum
|
|
LINC01554 |
long intergenic non-protein coding RNA 1554 |
|
|
|
|
PSME3 |
proteasome activator subunit 3 |
- Activation of NF-kappaB in B cells
- Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
- ER-Phagosome pathway
- Cross-presentation of soluble exogenous antigens (endosomes)
- Autodegradation of Cdh1 by Cdh1:APC/C
- SCF-beta-TrCP mediated degradation of Emi1
- APC/C:Cdc20 mediated degradation of Securin
- APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
- Cdc20:Phospho-APC/C mediated degradation of Cyclin A
- Vpu mediated degradation of CD4
- Vif-mediated degradation of APOBEC3G
- SCF(Skp2)-mediated degradation of p27/p21
- Degradation of beta-catenin by the destruction complex
- Downstream TCR signaling
- Regulation of activated PAK-2p34 by proteasome mediated degradation
- Separation of Sister Chromatids
- FCERI mediated NF-kB activation
- Autodegradation of the E3 ubiquitin ligase COP1
- Regulation of ornithine decarboxylase (ODC)
- ABC-family proteins mediated transport
- AUF1 (hnRNP D0) binds and destabilizes mRNA
- Asymmetric localization of PCP proteins
- Degradation of AXIN
- Degradation of DVL
- Hedgehog ligand biogenesis
- Hh mutants are degraded by ERAD
- 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
- Hedgehog 'on' state
- Regulation of RAS by GAPs
- TNFR2 non-canonical NF-kB pathway
- NIK-->noncanonical NF-kB signaling
- Defective CFTR causes cystic fibrosis
- MAPK6/MAPK4 signaling
- UCH proteinases
- Ub-specific processing proteases
- CDT1 association with the CDC6:ORC:origin complex
- Orc1 removal from chromatin
- CDK-mediated phosphorylation and removal of Cdc6
- G2/M Checkpoints
- Ubiquitin Mediated Degradation of Phosphorylated Cdc25A
- Ubiquitin-dependent degradation of Cyclin D
- The role of GTSE1 in G2/M progression after G2 checkpoint
- FBXL7 down-regulates AURKA during mitotic entry and in early mitosis
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- Regulation of RUNX2 expression and activity
- Regulation of RUNX2 expression and activity
- Regulation of RUNX3 expression and activity
- Regulation of PTEN stability and activity
- Neddylation
- Regulation of expression of SLITs and ROBOs
- Interleukin-1 signaling
- Negative regulation of NOTCH4 signaling
- Antigen processing: Ubiquitination & Proteasome degradation
|
|
|
|
ROCK1 |
Rho associated coiled-coil containing protein kinase 1 |
- Apoptotic cleavage of cellular proteins
- EPHB-mediated forward signaling
- EPHB-mediated forward signaling
- EPHA-mediated growth cone collapse
- G alpha (12/13) signalling events
- Sema4D induced cell migration and growth-cone collapse
- Sema4D induced cell migration and growth-cone collapse
- VEGFA-VEGFR2 Pathway
- RHO GTPases Activate ROCKs
- RHO GTPases Activate ROCKs
- Neutrophil degranulation
- RHOBTB1 GTPase cycle
- Potential therapeutics for SARS
|
- Hydroxyfasudil
- (S)-2-METHYL-1-[(4-METHYL-5-ISOQUINOLINE)SULFONYL]-HOMOPIPERAZINE
- Fasudil
- Y-27632
- Ripasudil
- Netarsudil
|
|
|
SLC9A3R1 |
SLC9A3 regulator 1 |
|
|
- Nephrolithiasis/osteoporosis, hypophosphatemic
|
|
SLC9A3R2 |
SLC9A3 regulator 2 |
|
|
|