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ABI1 |
abl interactor 1 |
- Regulation of actin dynamics for phagocytic cup formation
- Regulation of actin dynamics for phagocytic cup formation
- VEGFA-VEGFR2 Pathway
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate WASPs and WAVEs
- RAC1 GTPase cycle
- RAC2 GTPase cycle
- RAC3 GTPase cycle
- FCGR3A-mediated phagocytosis
- FCGR3A-mediated phagocytosis
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AIPL1 |
AIP like 1 HSP90 co-chaperone |
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- Leber congenital amaurosis (LCR)
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ALDOB |
aldolase, fructose-bisphosphate B |
- Hereditary fructose intolerance
- Glycolysis
- Gluconeogenesis
- Fructose catabolism
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- 1,6-Fructose Diphosphate (Linear Form)
- sn-glycerol 3-phosphate
- Dihydroxyacetone phosphate
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- Hereditary fructose intolerance; Fructosemia
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APOB |
apolipoprotein B |
- Cell surface interactions at the vascular wall
- Scavenging by Class B Receptors
- Scavenging by Class B Receptors
- Scavenging by Class A Receptors
- Scavenging by Class A Receptors
- Scavenging by Class F Receptors
- Scavenging by Class F Receptors
- Scavenging by Class H Receptors
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- Platelet sensitization by LDL
- Regulation of TLR by endogenous ligand
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- VLDL assembly
- Post-translational protein phosphorylation
- Chylomicron assembly
- Chylomicron remodeling
- Chylomicron clearance
- Chylomicron clearance
- LDL clearance
- LDL clearance
- LDL remodeling
- VLDL clearance
- VLDL clearance
- Heme signaling
- Retinoid metabolism and transport
- Retinoid metabolism and transport
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- Zinc chloride
- Zinc sulfate, unspecified form
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- Hypercholesterolemia, autosomal dominant; Hyperlipoproteinemia, type IIa
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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
- 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 binding to RAD51
- Impaired BRCA2 binding to PALB2
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- Ataxia telangiectasia (AT); Louis-Bar syndrome; Boder-Sedgwick syndrome
- Chronic lymphocytic leukemia (CLL)
- 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)
- 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
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BAG1 |
BAG cochaperone 1 |
- Regulation of HSF1-mediated heat shock response
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- (2R,3R,4S,5R)-2-[6-amino-8-[(3,4-dichlorophenyl)methylamino]purin-9-yl]-5-(hydroxymethyl)oxolane-3,4-diol
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BAG2 |
BAG cochaperone 2 |
- Regulation of HSF1-mediated heat shock response
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BAG3 |
BAG cochaperone 3 |
- Regulation of HSF1-mediated heat shock response
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BAG4 |
BAG cochaperone 4 |
- Regulation of HSF1-mediated heat shock response
- Signaling by FGFR1 in disease
- TNF signaling
- Signaling by plasma membrane FGFR1 fusions
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BAG6 |
BAG cochaperone 6 |
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
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BRCA1 |
BRCA1 DNA repair associated |
- Meiotic synapsis
- SUMOylation of DNA damage response and repair proteins
- HDR through Single Strand Annealing (SSA)
- HDR through Homologous Recombination (HRR)
- Metalloprotease DUBs
- 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
- Regulation of TP53 Activity through Phosphorylation
- G2/M DNA damage checkpoint
- Neddylation
- Transcriptional Regulation by E2F6
- Meiotic recombination
- Defective DNA double strand break response due to BRCA1 loss of function
- Defective DNA double strand break response due to BARD1 loss of function
- 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 binding to RAD51
- Impaired BRCA2 binding to PALB2
- KEAP1-NFE2L2 pathway
- Regulation of MITF-M-dependent genes involved in DNA replication, damage repair and senescence
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- Ovarian cancer
- Breast cancer
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CCT3 |
chaperonin containing TCP1 subunit 3 |
- Prefoldin mediated transfer of substrate to CCT/TriC
- Formation of tubulin folding intermediates by CCT/TriC
- Folding of actin by CCT/TriC
- Association of TriC/CCT with target proteins during biosynthesis
- Association of TriC/CCT with target proteins during biosynthesis
- BBSome-mediated cargo-targeting to cilium
- Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
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- Phosphoaminophosphonic Acid-Adenylate Ester
- Artenimol
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CD40 |
CD40 molecule |
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- Combined immunodeficiencies (CIDs), including the following nine diseases: X-linked hyper IgM syndrome; CD40 deficiency hyper IgM syndrome; Purine nucleoside phosphorylase (PNP) deficiency; Omenn syndrome; MHC deficiency (HLA-class I); MHC deficiency (HLA-class II); Zap-70 deficiency; p56 Lck deficiency; CD8 deficiency
- Hyper IgM syndromes, autosomal recessive type, including the following three diseases: Activation-induced cytidine deaminase (AICD) defect; Uracil nucleotide glycoside glycosylase (UNG) defect; Immunodeficiency with hyper-IgM type 3
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CDKN2A |
cyclin dependent kinase inhibitor 2A |
- Oxidative Stress Induced Senescence
- Senescence-Associated Secretory Phenotype (SASP)
- Oncogene Induced Senescence
- Cyclin D associated events in G1
- Transcriptional Regulation by VENTX
- Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4
- Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6
- Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4
- Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6
- Regulation of MITF-M-dependent genes involved in cell cycle and proliferation
- Apoptotic factor-mediated response
- Oxidative Stress Induced Senescence
- Oncogene Induced Senescence
- SUMOylation of DNA damage response and repair proteins
- SUMOylation of transcription factors
- Regulation of TP53 Degradation
- Stabilization of p53
- Regulation of RUNX3 expression and activity
- Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function
- Evasion of Oncogene Induced Senescence Due to p14ARF Defects
- Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects
- Nuclear events mediated by NFE2L2
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- Chronic myeloid leukemia (CML)
- Non-small cell lung cancer
- Malignant islet cell carcinoma
- Adult T-cell leukemia
- Esophageal cancer
- Glioma
- Pancreatic cancer
- Nasopharyngeal cancer
- Hepatocellular carcinoma
- Squamous cell carcinoma
- Penile cancer
- Oral cancer
- Malignant melanoma
- Burkitt lymphoma
- Gallbladder cancer
- Bladder cancer
- Laryngeal cancer
- Cholangiocarcinoma
- Malignant pleural mesothelioma
- Osteosarcoma
- Type II diabetes mellitus
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CITED1 |
Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 |
- Activation of the TFAP2 (AP-2) family of transcription factors
- Estrogen-dependent gene expression
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CLTA |
clathrin light chain A |
- Entry of Influenza Virion into Host Cell via Endocytosis
- Retrograde neurotrophin signalling
- Retrograde neurotrophin signalling
- Gap junction degradation
- Formation of annular gap junctions
- MHC class II antigen presentation
- EPH-ephrin mediated repulsion of cells
- Lysosome Vesicle Biogenesis
- Recycling pathway of L1
- Recycling pathway of L1
- WNT5A-dependent internalization of FZD4
- WNT5A-dependent internalization of FZD2, FZD5 and ROR2
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- VLDLR internalisation and degradation
- LDL clearance
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COL7A1 |
collagen type VII alpha 1 chain |
- Collagen degradation
- Collagen degradation
- Fibronectin matrix formation
- Collagen biosynthesis and modifying enzymes
- Assembly of collagen fibrils and other multimeric structures
- COPII-mediated vesicle transport
- Integrin cell surface interactions
- Anchoring fibril formation
- Laminin interactions
- Laminin interactions
- Cargo concentration in the ER
- Collagen chain trimerization
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- Epidermolysis bullosa, dysprophic, including: ; Epidermolysis bullosa dystrophica, AD; Epidermolysis bullosa dystrophica, AR; Epidermolysis bullosa pruriginosa; Epidermolysis bullosa, pretibial
- Transient bullous dermolysis of the newborn
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CXCR4 |
C-X-C motif chemokine receptor 4 |
- Binding and entry of HIV virion
- Signaling by ROBO receptors
- Chemokine receptors bind chemokines
- G alpha (i) signalling events
- Formation of definitive endoderm
- Specification of primordial germ cells
- Developmental Lineage of Multipotent Pancreatic Progenitor Cells
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- Baclofen
- Framycetin
- AMD-070
- Plerixafor
- Ulocuplumab
- Ibalizumab
- MSX-122
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- Chemokine receptor defect, including the following disease: WHIM syndrome
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CYCS |
cytochrome c, somatic |
- Release of apoptotic factors from the mitochondria
- Formation of apoptosome
- Activation of caspases through apoptosome-mediated cleavage
- SMAC (DIABLO) binds to IAPs
- SMAC(DIABLO)-mediated dissociation of IAP:caspase complexes
- Transcriptional activation of mitochondrial biogenesis
- Detoxification of Reactive Oxygen Species
- Pyroptosis
- TP53 Regulates Metabolic Genes
- Respiratory electron transport
- Regulation of the apoptosome activity
- Regulation of the apoptosome activity
- Cytoprotection by HMOX1
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- Minocycline
- Protoporphyrin Ix Containing Co
- Ferroheme C
- Imidazole
- Zinc protoporphyrin
- Trimethyllysine
- Zinc Substituted Heme C
- Artenimol
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- Thrombocytopenia (THC); Familial platelet disorder with associated myeloid malignancy (FPDMM)
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DNAJA1 |
DnaJ heat shock protein family (Hsp40) member A1 |
- HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand
- Mitochondrial unfolded protein response (UPRmt)
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