| Novel |
ACTN3
|
actinin alpha 3 |
- Nephrin family interactions
- Striated Muscle Contraction
|
|
|
| Novel |
CA4
|
carbonic anhydrase 4 |
- Erythrocytes take up carbon dioxide and release oxygen
- Erythrocytes take up oxygen and release carbon dioxide
- Reversible hydration of carbon dioxide
|
- Methyclothiazide
- Topiramate
- Ethoxzolamide
- Bendroflumethiazide
- Benzthiazide
- Benzthiazide
- Cyclothiazide
- Methazolamide
- Hydroflumethiazide
- Acetazolamide
- Dorzolamide
- Zonisamide
- Trichlormethiazide
- Diclofenamide
- Brinzolamide
- Ellagic acid
- Sodium carbonate
|
- Retinitis pigmentosa (RP)
|
| Novel |
CHAC2
|
ChaC glutathione specific gamma-glutamylcyclotransferase 2 |
- Glutathione synthesis and recycling
|
|
|
| Novel |
DNAJB11
|
DnaJ heat shock protein family (Hsp40) member B11 |
- XBP1(S) activates chaperone genes
|
|
|
| Novel |
EFEMP1
|
EGF-like fibulin extracellular matrix protein 1 |
- Molecules associated with elastic fibres
- Molecules associated with elastic fibres
|
|
- Familial flecked retina syndrome, including: Doyne honeycomb degeneration of retina (DHRD); Basal laminar drusen (BLD); Fundus albipunctatus (FA); Retinitis punctata albescens (RPA); Bietti crystalline corneoretinal dystrophy (BCD)
|
| Novel |
MSH6
|
mutS homolog 6 |
- Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)
- Defective Mismatch Repair Associated With MSH2
- Defective Mismatch Repair Associated With MSH6
|
|
- Mismatch repair deficiency, including: Hereditary non-polyposis colorectal cancer (HNPCC); Lynch syndrome; Muir-Torre syndrome; Turcot syndrome
- Colorectal cancer
|
| Novel |
SAMHD1
|
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
- Nucleotide catabolism
- Interferon alpha/beta signaling
|
|
- Aicardi-Goutieres Syndrome (AGS)
|
| Novel |
SMR3B
|
submaxillary gland androgen regulated protein 3B |
|
|
|
|
ABL1
|
ABL proto-oncogene 1, non-receptor tyrosine kinase |
- Regulation of actin dynamics for phagocytic cup formation
- Role of ABL in ROBO-SLIT signaling
- Role of ABL in ROBO-SLIT signaling
- Myogenesis
- Myogenesis
- RHO GTPases Activate WASPs and WAVEs
- HDR through Single Strand Annealing (SSA)
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Cyclin D associated events in G1
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- RUNX2 regulates osteoblast differentiation
- FCGR3A-mediated phagocytosis
- Factors involved in megakaryocyte development and platelet production
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
- Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZO1 and integrins in endothelial cells
|
- ATP
- Imatinib
- Dasatinib
- N-[4-Methyl-3-[[4-(3-Pyridinyl)-2-Pyrimidinyl]Amino]Phenyl]-3-Pyridinecarboxamide
- Nilotinib
- XL228
- Bosutinib
- 2-{[(6-OXO-1,6-DIHYDROPYRIDIN-3-YL)METHYL]AMINO}-N-[4-PROPYL-3-(TRIFLUOROMETHYL)PHENYL]BENZAMIDE
- 1-[4-(PYRIDIN-4-YLOXY)PHENYL]-3-[3-(TRIFLUOROMETHYL)PHENYL]UREA
- Myristic acid
- PD-166326
- 5-[3-(2-METHOXYPHENYL)-1H-PYRROLO[2,3-B]PYRIDIN-5-YL]-N,N-DIMETHYLPYRIDINE-3-CARBOXAMIDE
- 2-amino-5-[3-(1-ethyl-1H-pyrazol-5-yl)-1H-pyrrolo[2,3-b]pyridin-5-yl]-N,N-dimethylbenzamide
- Regorafenib
- Ponatinib
- Fostamatinib
- Brigatinib
- Radotinib
- Asciminib
- Umbralisib
|
- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
- Chronic myeloid leukemia (CML)
|
|
ADAR
|
adenosine deaminase RNA specific |
- C6 deamination of adenosine
- Formation of editosomes by ADAR proteins
- Interferon alpha/beta signaling
- PKR-mediated signaling
|
|
- Dyschromatosis symmetrica hereditaria
|
|
AGFG1
|
ArfGAP with FG repeats 1 |
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
|
|
|
|
AHR
|
aryl hydrocarbon receptor |
- PPARA activates gene expression
- Phase I - Functionalization of compounds
- Endogenous sterols
- Xenobiotics
- Aryl hydrocarbon receptor signalling
|
- Omeprazole
- Mexiletine
- Nimodipine
- Flutamide
- Atorvastatin
- Leflunomide
- Ginseng
- Indirubin-3'-monoxime
- Resveratrol
- Quercetin
- Tapinarof
- beta-Naphthoflavone
- Emodin
- 1-[(4S)-4-amino-5-(1,3-benzothiazol-2-yl)-5-oxopentyl]guanidine
- Diosmin
- Kynurenic Acid
- Epigallocatechin gallate
- Cantharidin
- Indirubin
- Carbendazim
- Indigo
|
|
|
ANP32A
|
acidic nuclear phosphoprotein 32 family member A |
- HuR (ELAVL1) binds and stabilizes mRNA
|
|
|
|
ANP32B
|
acidic nuclear phosphoprotein 32 family member B |
|
|
|
|
APC
|
APC regulator of Wnt signaling pathway |
- Apoptotic cleavage of cellular proteins
- Degradation of beta-catenin by the destruction complex
- Beta-catenin phosphorylation cascade
- Deactivation of the beta-catenin transactivating complex
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Signaling by GSK3beta mutants
- CTNNB1 S33 mutants aren't phosphorylated
- CTNNB1 S37 mutants aren't phosphorylated
- CTNNB1 S45 mutants aren't phosphorylated
- CTNNB1 T41 mutants aren't phosphorylated
- APC truncation mutants are not K63 polyubiquitinated
- APC truncation mutants have impaired AXIN binding
- AXIN missense mutants destabilize the destruction complex
- Truncations of AMER1 destabilize the destruction complex
- Ovarian tumor domain proteases
|
|
- Cancer of the anal canal
- Familial adenomatous polyposis
- Gastric cancer
- Esophageal cancer
- Gallbladder cancer
|
|
ATF2
|
activating transcription factor 2 |
- Transcriptional activation of mitochondrial biogenesis
- HATs acetylate histones
- Activation of the AP-1 family of transcription factors
- TP53 Regulates Transcription of DNA Repair Genes
- Regulation of PTEN gene transcription
- Regulation of PTEN gene transcription
- Estrogen-dependent gene expression
- NGF-stimulated transcription
- NGF-stimulated transcription
- Response of EIF2AK4 (GCN2) to amino acid deficiency
- Response of EIF2AK4 (GCN2) to amino acid deficiency
- Heme signaling
- Expression of BMAL (ARNTL), CLOCK, and NPAS2
|
|
|
|
BECN1
|
beclin 1 |
- ISG15 antiviral mechanism
- Macroautophagy
- Ub-specific processing proteases
- Translation of Replicase and Assembly of the Replication Transcription Complex
- Translation of Replicase and Assembly of the Replication Transcription Complex
- SARS-CoV-2 activates/modulates innate and adaptive immune responses
- Antigen Presentation: Folding, assembly and peptide loading of class I MHC
- RSV-host interactions
|
- Estradiol
- Estradiol acetate
- Estradiol benzoate
- Estradiol cypionate
- Estradiol dienanthate
- Estradiol valerate
|
|
|
BIRC5
|
baculoviral IAP repeat containing 5 |
- Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
- Separation of Sister Chromatids
- Resolution of Sister Chromatid Cohesion
- SUMOylation of DNA replication proteins
- RHO GTPases Activate Formins
- Interleukin-4 and Interleukin-13 signaling
- TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
- Mitotic Prometaphase
- Neddylation
- EML4 and NUDC in mitotic spindle formation
|
- Reserpine
- Berberine
- LY2181308
|
|
|
BRCA2
|
BRCA2 DNA repair associated |
- HDR through MMEJ (alt-NHEJ)
- HDR through Homologous Recombination (HRR)
- Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
- Resolution of D-loop Structures through Holliday Junction Intermediates
- Homologous DNA Pairing and Strand Exchange
- Presynaptic phase of homologous DNA pairing and strand exchange
- Meiotic recombination
- Defective homologous recombination repair (HRR) due to BRCA1 loss of function
- Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function
- Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function
- Impaired BRCA2 translocation to the nucleus
- Impaired BRCA2 binding to RAD51
- Impaired BRCA2 binding to PALB2
- Impaired BRCA2 binding to SEM1 (DSS1)
|
|
- Ovarian cancer
- Fanconi anemia
- Breast cancer
- Pancreatic cancer
|
|
CCND1
|
cyclin D1 |
- SCF(Skp2)-mediated degradation of p27/p21
- Pre-NOTCH Transcription and Translation
- RMTs methylate histone arginines
- Interleukin-4 and Interleukin-13 signaling
- Cyclin D associated events in G1
- Ubiquitin-dependent degradation of Cyclin D
- Ubiquitin-dependent degradation of Cyclin D
- PTK6 Regulates Cell Cycle
- Transcriptional Regulation by VENTX
- Transcriptional regulation by RUNX2
- Regulation of RUNX1 Expression and Activity
- RUNX3 regulates WNT signaling
- RUNX3 regulates p14-ARF
- Estrogen-dependent gene expression
- Estrogen-dependent nuclear events downstream of ESR-membrane signaling
- Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)
- Drug-mediated inhibition of CDK4/CDK6 activity
- Regulation of MITF-M-dependent genes involved in cell cycle and proliferation
- SPOP-mediated proteasomal degradation of PD-L1(CD274)
|
- Acetylsalicylic acid
- Arsenic trioxide
- Encorafenib
- Bryostatin 1
|
- Breast cancer
- Hairy-cell leukemia
- Oral cancer
- Multiple myeloma
- Laryngeal cancer
- von Hippel-Lindau syndrome
- Esophageal cancer
|