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KCNE3 |
potassium voltage-gated channel subfamily E regulatory subunit 3 |
- Phase 3 - rapid repolarisation
- Phase 2 - plateau phase
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- Enflurane
- Promethazine
- Miconazole
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TERT |
telomerase reverse transcriptase |
- Telomere Extension By Telomerase
- Formation of the beta-catenin:TCF transactivating complex
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- Zidovudine
- Grn163l
- Tertomotide
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- Cri du chat syndrome; Cat cry syndrome; Chromosme 5p deletion syndrome
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ATP2B4 |
ATPase plasma membrane Ca2+ transporting 4 |
- Reduction of cytosolic Ca++ levels
- Ion homeostasis
- Ion transport by P-type ATPases
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GRM1 |
glutamate metabotropic receptor 1 |
- G alpha (q) signalling events
- Class C/3 (Metabotropic glutamate/pheromone receptors)
- Neurexins and neuroligins
- Neurexins and neuroligins
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- Glutamic acid
- (S)-alpha-methyl-4-carboxyphenylglycine
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MYC |
MYC proto-oncogene, bHLH transcription factor |
- Transcription of E2F targets under negative control by DREAM complex
- NOTCH1 Intracellular Domain Regulates Transcription
- SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- Binding of TCF/LEF:CTNNB1 to target gene promoters
- MAPK6/MAPK4 signaling
- Ub-specific processing proteases
- Interleukin-4 and Interleukin-13 signaling
- Cyclin E associated events during G1/S transition
- Cyclin A:Cdk2-associated events at S phase entry
- TFAP2 (AP-2) family regulates transcription of cell cycle factors
- RUNX3 regulates WNT signaling
- Estrogen-dependent gene expression
- Transcriptional regulation of granulopoiesis
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- Acetylsalicylic acid
- Nadroparin
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- Choriocarcinoma
- Penile cancer
- Burkitt lymphoma
- Oral cancer
- Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia)
- Multiple myeloma
- Small cell lung cancer
- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
- Osteosarcoma
- Kaposi's sarcoma
- Laryngeal cancer
- Breast cancer
- Ovarian cancer
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PRKDC |
protein kinase, DNA-activated, catalytic subunit |
- Cytosolic sensors of pathogen-associated DNA
- IRF3-mediated induction of type I IFN
- Nonhomologous End-Joining (NHEJ)
- E3 ubiquitin ligases ubiquitinate target proteins
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RELA |
RELA proto-oncogene, NF-kB subunit |
- Activation of NF-kappaB in B cells
- RIP-mediated NFkB activation via ZBP1
- Regulated proteolysis of p75NTR
- Downstream TCR signaling
- NF-kB is activated and signals survival
- Senescence-Associated Secretory Phenotype (SASP)
- FCERI mediated NF-kB activation
- DEx/H-box helicases activate type I IFN and inflammatory cytokines production
- PKMTs methylate histone lysines
- Transcriptional regulation of white adipocyte differentiation
- TAK1 activates NFkB by phosphorylation and activation of IKKs complex
- Interleukin-1 processing
- SUMOylation of immune response proteins
- IkBA variant leads to EDA-ID
- Dectin-1 mediated noncanonical NF-kB signaling
- CLEC7A (Dectin-1) signaling
- CD209 (DC-SIGN) signaling
- CLEC7A/inflammasome pathway
- The NLRP3 inflammasome
- Transcriptional Regulation by VENTX
- Interleukin-1 signaling
- TRAF6 mediated NF-kB activation
- Purinergic signaling in leishmaniasis infection
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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
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- 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
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- Tumor necrosis factor receptor-associated periodic syndrome (TRAPS); Familial periodic fever
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ARAF |
A-Raf proto-oncogene, serine/threonine kinase |
- RAF activation
- MAP2K and MAPK activation
- Negative regulation of MAPK pathway
- Signaling by moderate kinase activity BRAF mutants
- Signaling by high-kinase activity BRAF mutants
- Signaling by BRAF and RAF fusions
- Paradoxical activation of RAF signaling by kinase inactive BRAF
- Signaling downstream of RAS mutants
- Signaling by RAF1 mutants
- Signaling by MRAS-complex 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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ATM |
ATM serine/threonine kinase |
- DNA Damage/Telomere Stress Induced Senescence
- Regulation of HSF1-mediated heat shock response
- Autodegradation of the E3 ubiquitin ligase COP1
- HDR through Single Strand Annealing (SSA)
- HDR through Homologous Recombination (HRR)
- Sensing of DNA Double Strand Breaks
- Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Resolution of D-loop Structures through Holliday Junction Intermediates
- Nonhomologous End-Joining (NHEJ)
- Homologous DNA Pairing and Strand Exchange
- Processing of DNA double-strand break ends
- Presynaptic phase of homologous DNA pairing and strand exchange
- TP53 Regulates Transcription of DNA Repair Genes
- TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
- TP53 Regulates Transcription of Caspase Activators and Caspases
- Regulation of TP53 Activity through Phosphorylation
- Regulation of TP53 Degradation
- Regulation of TP53 Activity through Methylation
- G2/M DNA damage checkpoint
- Stabilization of p53
- Meiotic recombination
- Pexophagy
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- Ataxia telangiectasia (AT); Louis-Bar syndrome; Boder-Sedgwick syndrome
- DNA repair defects, including the following six diseases: Ataxia telangiectasia (AT); Ataxia-talangiectasia-like syndrome; Nijmegen syndrome; DNA ligase I deficiency; DNA ligase IV deficiency; Bloom's syndrome
- Ataxia with ocular apraxia (AOA), including: Ataxia telangiectasia (AT); Ataxia telangiectasia like disorder (ATLD); Ataxia oculomotor apraxia type 1 (AOA1); Ataxia oculomotor apraxia type 2 (AOA2)
- Chronic lymphocytic leukemia (CLL)
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KAT2A |
lysine acetyltransferase 2A |
- Pre-NOTCH Transcription and Translation
- Pre-NOTCH Transcription and Translation
- Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
- NOTCH1 Intracellular Domain Regulates Transcription
- NOTCH1 Intracellular Domain Regulates Transcription
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- HATs acetylate histones
- Notch-HLH transcription pathway
- B-WICH complex positively regulates rRNA expression
- Ub-specific processing proteases
- RNA Polymerase I Transcription Initiation
- RUNX3 regulates NOTCH signaling
- RUNX3 regulates NOTCH signaling
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH4 Intracellular Domain Regulates Transcription
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MAP2K3 |
mitogen-activated protein kinase kinase 3 |
- Oxidative Stress Induced Senescence
- activated TAK1 mediates p38 MAPK activation
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MAP2K6 |
mitogen-activated protein kinase kinase 6 |
- NOD1/2 Signaling Pathway
- Oxidative Stress Induced Senescence
- activated TAK1 mediates p38 MAPK activation
- Myogenesis
- PI5P Regulates TP53 Acetylation
- Interleukin-1 signaling
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RHOA |
ras homolog family member A |
- GPVI-mediated activation cascade
- Axonal growth inhibition (RHOA activation)
- Rho GTPase cycle
- PI3K/AKT activation
- Axonal growth stimulation
- TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
- TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
- G beta:gamma signalling through PI3Kgamma
- EPHB-mediated forward signaling
- EPHB-mediated forward signaling
- EPHA-mediated growth cone collapse
- EPHA-mediated growth cone collapse
- PCP/CE pathway
- G alpha (12/13) signalling events
- Sema4D mediated inhibition of cell attachment and migration
- Sema4D induced cell migration and growth-cone collapse
- Sema4D induced cell migration and growth-cone collapse
- VEGFA-VEGFR2 Pathway
- RHO GTPases activate PKNs
- RHO GTPases activate CIT
- RHO GTPases activate CIT
- RHO GTPases activate KTN1
- RHO GTPases Activate ROCKs
- RHO GTPases Activate ROCKs
- RHO GTPases Activate Formins
- RHO GTPases Activate Rhotekin and Rhophilins
- RHO GTPases Activate Rhotekin and Rhophilins
- Ovarian tumor domain proteases
- ERBB2 Regulates Cell Motility
- Neutrophil degranulation
- PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
- SLIT2:ROBO1 increases RHOA activity
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STK3 |
serine/threonine kinase 3 |
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TUBG1 |
tubulin gamma 1 |
- Regulation of PLK1 Activity at G2/M Transition
- 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
- AURKA Activation by TPX2
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ATR |
ATR serine/threonine kinase |
- Meiotic synapsis
- Activation of ATR in response to replication stress
- Regulation of HSF1-mediated heat shock response
- HDR through Single Strand Annealing (SSA)
- Processing of DNA double-strand break ends
- Presynaptic phase of homologous DNA pairing and strand exchange
- Fanconi Anemia Pathway
- TP53 Regulates Transcription of DNA Repair Genes
- Regulation of TP53 Activity through Phosphorylation
- G2/M DNA damage checkpoint
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- Alveolar rhabdomyosarcoma
- Seckel syndrome
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ATRX |
ATRX chromatin remodeler |
- Inhibition of DNA recombination at telomere
- Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations
- Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations
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- 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)
- Thalassemia; Alpha thalassemia; Beta thalassemia; Alpha thalassemia, X-linked (ATRX)
- Non-syndromic X-linked mental retardation
- 46,XY disorders of sex development (Disorders of gonadal development), including: Gonadal agenesis; Complete and partial gonadal dysgenesis; Testis regression; Ovotesticular DSD
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C7orf25 |
chromosome 7 open reading frame 25 |
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C8orf33 |
chromosome 8 open reading frame 33 |
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