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ABCB7 |
ATP binding cassette subfamily B member 7 |
- Mitochondrial ABC transporters
- Cytosolic iron-sulfur cluster assembly
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- Sideroblastic anemia, including: Pyridoxine-refractory autosomal recessive sideroblastic anemia (PRARSA); X-linked sideroblastic anemia (XLSA); X-linked sideroblastic anemia with ataxia (ASAT)
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ABCD3 |
ATP binding cassette subfamily D member 3 |
- ABC transporters in lipid homeostasis
- RHOA GTPase cycle
- RHOC GTPase cycle
- Class I peroxisomal membrane protein import
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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
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- 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
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- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
- Chronic myeloid leukemia (CML)
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ABRAXAS1 |
abraxas 1, BRCA1 A complex subunit |
- Metalloprotease DUBs
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Nonhomologous End-Joining (NHEJ)
- Processing of DNA double-strand break ends
- G2/M DNA damage checkpoint
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ABRAXAS2 |
abraxas 2, BRISC complex subunit |
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ACAD11 |
acyl-CoA dehydrogenase family member 11 |
- Mitochondrial Fatty Acid Beta-Oxidation
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ACOT9 |
acyl-CoA thioesterase 9 |
- Mitochondrial Fatty Acid Beta-Oxidation
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ACTA1 |
actin alpha 1, skeletal muscle |
- Striated Muscle Contraction
- Regulation of CDH1 Function
- Formation of the dystrophin-glycoprotein complex (DGC)
- Formation of the dystrophin-glycoprotein complex (DGC)
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- Latrunculin A
- Sucrose
- Ulapualide A
- Kabiramide C
- Jaspisamide A
- Tmr
- 1-Methylhistidine
- Phosphoaminophosphonic Acid-Adenylate Ester
- Aplyronine A
- Reidispongiolide A
- Reidispongiolide C
- Sphinxolide B
- Latrunculin B
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- Cap myopathy
- Congenital fiber type disproportion (CFTD)
- Nemaline myopathy
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ACTB |
actin beta |
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Gap junction degradation
- Formation of annular gap junctions
- Regulation of actin dynamics for phagocytic cup formation
- Regulation of actin dynamics for phagocytic cup formation
- HATs acetylate histones
- Prefoldin mediated transfer of substrate to CCT/TriC
- Folding of actin by CCT/TriC
- EPHB-mediated forward signaling
- EPH-ephrin mediated repulsion of cells
- Adherens junctions interactions
- Adherens junctions interactions
- Recycling pathway of L1
- Recycling pathway of L1
- VEGFA-VEGFR2 Pathway
- Interaction between L1 and Ankyrins
- Interaction between L1 and Ankyrins
- Cell-extracellular matrix interactions
- B-WICH complex positively regulates rRNA expression
- RHO GTPases activate IQGAPs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate Formins
- RHO GTPases Activate Formins
- MAP2K and MAPK activation
- UCH proteinases
- DNA Damage Recognition in GG-NER
- Signaling by moderate kinase activity BRAF mutants
- Signaling by high-kinase activity BRAF mutants
- Signaling by BRAF and RAF1 fusions
- Paradoxical activation of RAF signaling by kinase inactive BRAF
- Clathrin-mediated endocytosis
- RHOF GTPase cycle
- Signaling downstream of RAS mutants
- Signaling by RAF1 mutants
- Sensory processing of sound by inner hair cells of the cochlea
- Sensory processing of sound by outer hair cells of the cochlea
- FCGR3A-mediated phagocytosis
- FCGR3A-mediated phagocytosis
- Regulation of CDH1 Function
- Regulation of MITF-M-dependent genes involved in pigmentation
- Regulation of MITF-M-dependent genes involved in pigmentation
- Factors involved in megakaryocyte development and platelet production
- Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)
- Formation of the dystrophin-glycoprotein complex (DGC)
- Formation of the dystrophin-glycoprotein complex (DGC)
- Formation of the canonical BAF (cBAF) complex
- Formation of the polybromo-BAF (pBAF) complex
- Formation of the embryonic stem cell BAF (esBAF) complex
- Formation of the non-canonical BAF (ncBAF) complex
- Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)
- Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)
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- Quercetin
- Phenethyl Isothiocyanate
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- Other phagocyte defects, including the following eight diseases: Chediak-Higashi syndrome; Griscelli syndrome, type 1 (GS1); Griscelli syndrome, type 2 (GS2); Griscelli syndrome, type 3 (GS3); beta-actin deficiency; Neutrophil-specific granule deficiency; Myeloperoxidase deficiency; Glucose 6-phosphate dehydrogenase deficiency; Shwachman syndrome
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ACTC1 |
actin alpha cardiac muscle 1 |
- Striated Muscle Contraction
- RHOA GTPase cycle
- RHOB GTPase cycle
- Regulation of CDH1 Function
- Formation of the dystrophin-glycoprotein complex (DGC)
- Formation of the dystrophin-glycoprotein complex (DGC)
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- Dilated cardiomyopathy (DCM)
- Hypertrophic cardiomyopathy (HCM)
- Atrial septal defect
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ACTL6A |
actin like 6A |
- HATs acetylate histones
- RMTs methylate histone arginines
- UCH proteinases
- DNA Damage Recognition in GG-NER
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- Regulation of MITF-M-dependent genes involved in pigmentation
- Regulation of MITF-M-dependent genes involved in pigmentation
- Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)
- Formation of the canonical BAF (cBAF) complex
- Formation of the polybromo-BAF (pBAF) complex
- Formation of the embryonic stem cell BAF (esBAF) complex
- Formation of the non-canonical BAF (ncBAF) complex
- Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)
- Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)
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ACTL8 |
actin like 8 |
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ADH7 |
alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide |
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AGO2 |
argonaute RISC catalytic component 2 |
- Pre-NOTCH Transcription and Translation
- MicroRNA (miRNA) biogenesis
- Ca2+ pathway
- Small interfering RNA (siRNA) biogenesis
- Post-transcriptional silencing by small RNAs
- Transcriptional regulation by small RNAs
- TP53 Regulates Metabolic Genes
- MAPK6/MAPK4 signaling
- Regulation of RUNX1 Expression and Activity
- Regulation of PTEN mRNA translation
- Competing endogenous RNAs (ceRNAs) regulate PTEN translation
- Transcriptional Regulation by MECP2
- Transcriptional Regulation by MECP2
- Estrogen-dependent gene expression
- Regulation of MECP2 expression and activity
- NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
- Nuclear events stimulated by ALK signaling in cancer
- Regulation of CDH11 mRNA translation by microRNAs
- Regulation of CDH11 mRNA translation by microRNAs
- Regulation of CDH1 mRNA translation by microRNAs
- Regulation of NPAS4 mRNA translation
- M-decay: degradation of maternal mRNAs by maternally stored factors
- Regulation of MITF-M-dependent genes involved in apoptosis
- TGFBR3 expression
- Regulation of PD-L1(CD274) translation
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AGRN |
agrin |
- Glycosaminoglycan-protein linkage region biosynthesis
- HS-GAG biosynthesis
- HS-GAG biosynthesis
- HS-GAG degradation
- Integrin cell surface interactions
- Non-integrin membrane-ECM interactions
- ECM proteoglycans
- ECM proteoglycans
- Defective B4GALT7 causes EDS, progeroid type
- Defective B3GAT3 causes JDSSDHD
- Defective EXT2 causes exostoses 2
- Defective EXT1 causes exostoses 1, TRPS2 and CHDS
- NCAM1 interactions
- Defective B3GALT6 causes EDSP2 and SEMDJL1
- Attachment and Entry
- Attachment and Entry
- Retinoid metabolism and transport
- Respiratory syncytial virus (RSV) attachment and entry
- RSV-host interactions
- Formation of the dystrophin-glycoprotein complex (DGC)
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- Congenital myasthenic syndrome
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AGTPBP1 |
ATP/GTP binding carboxypeptidase 1 |
- Carboxyterminal post-translational modifications of tubulin
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AHCY |
adenosylhomocysteinase |
- Methylation
- Sulfur amino acid metabolism
- Metabolism of ingested SeMet, Sec, MeSec into H2Se
- Defective AHCY causes HMAHCHD
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- (1'R,2'S)-9-(2-Hydroxy-3'-Keto-Cyclopenten-1-yl)Adenine
- 3'-Oxo-Adenosine
- D-Eritadenine
- Copper
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- Hypermethioninemia; Methionine adenosyltransferase deficiency; S-adenosylhomocysteine hydrolase deficiency
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ALDH1L2 |
aldehyde dehydrogenase 1 family member L2 |
- Metabolism of folate and pterines
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ALG1 |
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase |
- Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
- Defective ALG1 causes CDG-1k
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- Congenital disorders of glycosylation (CDG) type I
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AMBRA1 |
autophagy and beclin 1 regulator 1 |
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