|
CAV1
|
caveolin 1 |
- Triglyceride catabolism
- eNOS activation
- NOSTRIN mediated eNOS trafficking
- Thyroxine biosynthesis
- Basigin interactions
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- VEGFR2 mediated vascular permeability
- RHOA GTPase cycle
- Extra-nuclear estrogen signaling
- RHOB GTPase cycle
- RHOC GTPase cycle
- CDC42 GTPase cycle
- RAC1 GTPase cycle
- RAC2 GTPase cycle
- RHOD GTPase cycle
- RHOQ GTPase cycle
- RHOH GTPase cycle
- RHOG GTPase cycle
- RHOJ GTPase cycle
- RAC3 GTPase cycle
- RHOF GTPase cycle
- FOXO-mediated transcription of cell cycle genes
- RND3 GTPase cycle
- RND2 GTPase cycle
- RND1 GTPase cycle
- SARS-CoV-1 targets host intracellular signalling and regulatory pathways
- SARS-CoV-2 targets host intracellular signalling and regulatory pathways
|
|
- Congenital generalized lipodystrophy (CGL)
|
|
CBL
|
Cbl proto-oncogene |
- Interleukin-6 signaling
- Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
- Spry regulation of FGF signaling
- Regulation of KIT signaling
- EGFR downregulation
- TGF-beta receptor signaling activates SMADs
- Constitutive Signaling by EGFRvIII
- Negative regulation of FGFR1 signaling
- Negative regulation of FGFR2 signaling
- Negative regulation of FGFR3 signaling
- Negative regulation of FGFR4 signaling
- Negative regulation of MET activity
- PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- InlB-mediated entry of Listeria monocytogenes into host cell
- InlB-mediated entry of Listeria monocytogenes into host cell
- Regulation of signaling by CBL
- Regulation of signaling by CBL
- Signaling by CSF1 (M-CSF) in myeloid cells
- Negative regulation of FLT3
- FLT3 signaling by CBL mutants
|
|
- 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)
|
|
CD40
|
CD40 molecule |
|
|
- 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
|
|
CUL5
|
cullin 5 |
- Vif-mediated degradation of APOBEC3G
- Downregulation of ERBB2 signaling
- Neddylation
- Inactivation of CSF3 (G-CSF) signaling
- Inactivation of CSF3 (G-CSF) signaling
- Antigen processing: Ubiquitination & Proteasome degradation
- Evasion by RSV of host interferon responses
|
|
|
|
CYLD
|
CYLD lysine 63 deubiquitinase |
- NOD1/2 Signaling Pathway
- TNFR1-induced proapoptotic signaling
- Regulation of TNFR1 signaling
- TNFR1-induced NF-kappa-B signaling pathway
- Ub-specific processing proteases
- Negative regulators of DDX58/IFIH1 signaling
|
|
- Brooke-Spiegler syndrome
- Multiple familial trichoepithelioma
- Familial cylindromatosis
|
|
DLG4
|
discs large MAGUK scaffold protein 4 |
- Signaling by ERBB4
- Trafficking of AMPA receptors
- Unblocking of NMDA receptors, glutamate binding and activation
- Unblocking of NMDA receptors, glutamate binding and activation
- Ras activation upon Ca2+ influx through NMDA receptor
- NrCAM interactions
- Activation of Ca-permeable Kainate Receptor
- RHO GTPases activate CIT
- RAF/MAP kinase cascade
- LGI-ADAM interactions
- Neurexins and neuroligins
- Neurexins and neuroligins
- Synaptic adhesion-like molecules
- Assembly and cell surface presentation of NMDA receptors
- Negative regulation of NMDA receptor-mediated neuronal transmission
- Long-term potentiation
|
- Guanidine
- Guanosine-5'-Monophosphate
|
|
|
DNA2
|
DNA replication helicase/nuclease 2 |
- Removal of the Flap Intermediate from the C-strand
- HDR through Single Strand Annealing (SSA)
- 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
- Processing of DNA double-strand break ends
- Presynaptic phase of homologous DNA pairing and strand exchange
- Regulation of TP53 Activity through Phosphorylation
- Removal of the Flap Intermediate
- G2/M DNA damage checkpoint
- 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
|
|
|
|
ECSIT
|
ECSIT signaling integrator |
- MyD88:MAL(TIRAP) cascade initiated on plasma membrane
- Complex I biogenesis
- TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation
- MyD88 cascade initiated on plasma membrane
|
|
|
|
EDA2R
|
ectodysplasin A2 receptor |
- TNFs bind their physiological receptors
|
|
|
|
EDARADD
|
EDAR associated via death domain |
- TNFs bind their physiological receptors
|
|
- Ectodermal dysplasia, including: Ectodermal dysplasia, anhidrotic; Ectodermal dysplasia, hypohidrotic
|
|
FADD
|
Fas associated via death domain |
- Caspase activation via Death Receptors in the presence of ligand
- TRIF-mediated programmed cell death
- Regulation by c-FLIP
- RIPK1-mediated regulated necrosis
- CASP8 activity is inhibited
- TNFR1-induced proapoptotic signaling
- Regulation of TNFR1 signaling
- Regulation of necroptotic cell death
- Dimerization of procaspase-8
- FasL/ CD95L signaling
- TRAIL signaling
- TLR3-mediated TICAM1-dependent programmed cell death
- NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
- Defective RIPK1-mediated regulated necrosis
|
|
|
|
FAM177A1
|
family with sequence similarity 177 member A1 |
|
|
|
|
FHL2
|
four and a half LIM domains 2 |
- PPARA activates gene expression
|
|
|
|
FYN
|
FYN proto-oncogene, Src family tyrosine kinase |
- GPVI-mediated activation cascade
- Signaling by ERBB2
- PIP3 activates AKT signaling
- Signaling by SCF-KIT
- Signaling by SCF-KIT
- Regulation of KIT signaling
- Nef and signal transduction
- Cell surface interactions at the vascular wall
- FCGR activation
- PECAM1 interactions
- Constitutive Signaling by Aberrant PI3K in Cancer
- DAP12 signaling
- DAP12 signaling
- EPH-Ephrin signaling
- Role of LAT2/NTAL/LAB on calcium mobilization
- Nephrin family interactions
- Nephrin family interactions
- NCAM signaling for neurite out-growth
- NCAM signaling for neurite out-growth
- Co-stimulation by CD28
- CD28 dependent PI3K/Akt signaling
- CD28 dependent Vav1 pathway
- Co-inhibition by CTLA4
- EPHB-mediated forward signaling
- EPHB-mediated forward signaling
- EPHA-mediated growth cone collapse
- EPHA-mediated growth cone collapse
- Ephrin signaling
- Ephrin signaling
- EPH-ephrin mediated repulsion of cells
- Sema3A PAK dependent Axon repulsion
- SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion
- SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion
- CRMPs in Sema3A signaling
- CRMPs in Sema3A signaling
- VEGFA-VEGFR2 Pathway
- Dectin-2 family
- CD209 (DC-SIGN) signaling
- RAF/MAP kinase cascade
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- Platelet Adhesion to exposed collagen
- Reelin signalling pathway
- Regulation of signaling by CBL
- Regulation of signaling by CBL
- FCGR3A-mediated IL10 synthesis
- FCGR3A-mediated phagocytosis
- Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants
- Signaling by CSF1 (M-CSF) in myeloid cells
- FLT3 signaling through SRC family kinases
- Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
- High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells
|
- Dasatinib
- Triglyme
- Fostamatinib
- Zotiraciclib
|
|
|
GART
|
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase |
- Purine ribonucleoside monophosphate biosynthesis
|
- Pemetrexed
- Glycinamide Ribonucleotide
- N-({4-[(1R)-4-[(2R,4S,5S)-2,4-diamino-6-oxohexahydropyrimidin-5-yl]-1-(2,2,2-trifluoro-1,1-dihydroxyethyl)butyl]phenyl}carbonyl)-L-glutamic acid
|
|
|
GTF2I
|
general transcription factor IIi |
|
|
|
|
H2AX
|
H2A.X variant histone |
- Recognition and association of DNA glycosylase with site containing an affected pyrimidine
- Cleavage of the damaged pyrimidine
- Recognition and association of DNA glycosylase with site containing an affected purine
- Recognition and association of DNA glycosylase with site containing an affected purine
- Cleavage of the damaged purine
- Cleavage of the damaged purine
- Meiotic synapsis
- Packaging Of Telomere Ends
- Pre-NOTCH Transcription and Translation
- Formation of the beta-catenin:TCF transactivating complex
- Formation of the beta-catenin:TCF transactivating complex
- PRC2 methylates histones and DNA
- Condensation of Prophase Chromosomes
- Oxidative Stress Induced Senescence
- Senescence-Associated Secretory Phenotype (SASP)
- DNA Damage/Telomere Stress Induced Senescence
- RMTs methylate histone arginines
- SIRT1 negatively regulates rRNA expression
- ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
- NoRC negatively regulates rRNA expression
- NoRC negatively regulates rRNA expression
- B-WICH complex positively regulates rRNA expression
- DNA methylation
- Transcriptional regulation by small RNAs
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
- 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
- Deposition of new CENPA-containing nucleosomes at the centromere
- Assembly of the ORC complex at the origin of replication
- G2/M DNA damage checkpoint
- RNA Polymerase I Promoter Opening
- RNA Polymerase I Promoter Escape
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- Estrogen-dependent gene expression
- Meiotic recombination
- Transcriptional regulation of granulopoiesis
- Inhibition of DNA recombination at telomere
- Defective pyroptosis
- Negative Regulation of CDH1 Gene Transcription
- Amyloid fiber formation
- Chromatin modifications during the maternal to zygotic transition (MZT)
- Replacement of protamines by nucleosomes in the male pronucleus
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
- Regulation of endogenous retroelements by KRAB-ZFP proteins
- Regulation of endogenous retroelements by KRAB-ZFP proteins
- Regulation of endogenous retroelements by the Human Silencing Hub (HUSH) complex
- Regulation of endogenous retroelements by the Human Silencing Hub (HUSH) complex
- Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)
- Regulation of PD-L1(CD274) transcription
|
|
|
|
H2BC21
|
H2B clustered histone 21 |
- Recognition and association of DNA glycosylase with site containing an affected pyrimidine
- Cleavage of the damaged pyrimidine
- Recognition and association of DNA glycosylase with site containing an affected purine
- Recognition and association of DNA glycosylase with site containing an affected purine
- Cleavage of the damaged purine
- Cleavage of the damaged purine
- Meiotic synapsis
- Packaging Of Telomere Ends
- Pre-NOTCH Transcription and Translation
- Formation of the beta-catenin:TCF transactivating complex
- Formation of the beta-catenin:TCF transactivating complex
- PRC2 methylates histones and DNA
- Condensation of Prophase Chromosomes
- Oxidative Stress Induced Senescence
- Senescence-Associated Secretory Phenotype (SASP)
- DNA Damage/Telomere Stress Induced Senescence
- HDACs deacetylate histones
- HATs acetylate histones
- HATs acetylate histones
- SIRT1 negatively regulates rRNA expression
- ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
- NoRC negatively regulates rRNA expression
- NoRC negatively regulates rRNA expression
- B-WICH complex positively regulates rRNA expression
- DNA methylation
- Transcriptional regulation by small RNAs
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
- Ub-specific processing proteases
- 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
- Deposition of new CENPA-containing nucleosomes at the centromere
- Assembly of the ORC complex at the origin of replication
- G2/M DNA damage checkpoint
- RNA Polymerase I Promoter Opening
- RNA Polymerase I Promoter Escape
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- Estrogen-dependent gene expression
- Meiotic recombination
- HCMV Early Events
- HCMV Late Events
- Transcriptional regulation of granulopoiesis
- Inhibition of DNA recombination at telomere
- Defective pyroptosis
- Negative Regulation of CDH1 Gene Transcription
- Amyloid fiber formation
- Chromatin modifications during the maternal to zygotic transition (MZT)
- Replacement of protamines by nucleosomes in the male pronucleus
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
- Regulation of endogenous retroelements by KRAB-ZFP proteins
- Regulation of endogenous retroelements by KRAB-ZFP proteins
- Regulation of endogenous retroelements by the Human Silencing Hub (HUSH) complex
- Regulation of endogenous retroelements by the Human Silencing Hub (HUSH) complex
- Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)
- Regulation of PD-L1(CD274) transcription
|
|
|
|
HNRNPA1
|
heterogeneous nuclear ribonucleoprotein A1 |
- FGFR2 alternative splicing
- mRNA Splicing - Major Pathway
- Processing of Capped Intron-Containing Pre-mRNA
- SARS-CoV-1-host interactions
- SARS-CoV-1 modulates host translation machinery
|
|
|
|
HSD17B10
|
hydroxysteroid 17-beta dehydrogenase 10 |
- tRNA processing in the mitochondrion
- tRNA modification in the mitochondrion
- Branched-chain amino acid catabolism
- rRNA processing in the mitochondrion
- Mitochondrial protein degradation
|
- NADH
- 1-Azepan-1-Yl-2-Phenyl-2-(4-Thioxo-1,4-Dihydro-Pyrazolo[3,4-D]Pyrimidin-5-Yl)Ethanone Adduct
- Omega-3-carboxylic acids
|
- Non-syndromic X-linked mental retardation
- Syndromic X-linked mental retardation, including: Turner type (MRXST); Siderius type (MRXSSD) ; Cabezas type (MRXC); Raymond type (MRXSR); Type10 (MRXS10); Type14 (MRXS14); Mental retardation with isolated growth hormone deficiency (MRGH)
- 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency; HSD10 deficiency
|