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HECTD1 |
HECT domain E3 ubiquitin protein ligase 1 |
- Antigen processing: Ubiquitination & Proteasome degradation
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HSPA12A |
heat shock protein family A (Hsp70) member 12A |
- Regulation of HSF1-mediated heat shock response
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HSPA1L |
heat shock protein family A (Hsp70) member 1 like |
- Regulation of HSF1-mediated heat shock response
- HSP90 chaperone cycle for steroid hormone receptors (SHR)
- Attenuation phase
- HSF1-dependent transactivation
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ICMT |
isoprenylcysteine carboxyl methyltransferase |
- Gamma carboxylation, hypusine formation and arylsulfatase activation
- RAS processing
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IKZF3 |
IKAROS family zinc finger 3 |
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IL1RL1 |
interleukin 1 receptor like 1 |
- PIP3 activates AKT signaling
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- Interleukin-33 signaling
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IL24 |
interleukin 24 |
- Interleukin-20 family signaling
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IRAK2 |
interleukin 1 receptor associated kinase 2 |
- MyD88:MAL(TIRAP) cascade initiated on plasma membrane
- NOD1/2 Signaling Pathway
- TAK1 activates NFkB by phosphorylation and activation of IKKs complex
- activated TAK1 mediates p38 MAPK activation
- JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1
- Interleukin-1 signaling
- IRAK2 mediated activation of TAK1 complex
- TRAF6-mediated induction of TAK1 complex within TLR4 complex
- TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation
- MyD88 dependent cascade initiated on endosome
- IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation
- MyD88 cascade initiated on plasma membrane
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ITSN1 |
intersectin 1 |
- NRAGE signals death through JNK
- Rho GTPase cycle
- EPHB-mediated forward signaling
- EPHB-mediated forward signaling
- G alpha (12/13) signalling events
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
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KRT17 |
keratin 17 |
- Keratinization
- Formation of the cornified envelope
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- Pachyonychia congenita, including: Jadassohn-Lewandowsky syndrome; Jackson-Lawler syndrome ; Steatocystoma multiplex
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KRT18 |
keratin 18 |
- Keratinization
- Formation of the cornified envelope
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LZTR1 |
leucine zipper like transcription regulator 1 |
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MLH3 |
mutL homolog 3 |
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- Mismatch repair deficiency, including: Hereditary non-polyposis colorectal cancer (HNPCC); Lynch syndrome; Muir-Torre syndrome; Turcot syndrome
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MSH2 |
mutS homolog 2 |
- Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)
- Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)
- Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)
- Defective Mismatch Repair Associated With MSH3
- Defective Mismatch Repair Associated With MSH2
- Defective Mismatch Repair Associated With MSH6
- TP53 Regulates Transcription of DNA Repair Genes
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- Colorectal cancer
- Mismatch repair deficiency, including: Hereditary non-polyposis colorectal cancer (HNPCC); Lynch syndrome; Muir-Torre syndrome; Turcot syndrome
- Ovarian cancer
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MSH6 |
mutS homolog 6 |
- Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)
- Defective Mismatch Repair Associated With MSH2
- Defective Mismatch Repair Associated With MSH6
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- Colorectal cancer
- Mismatch repair deficiency, including: Hereditary non-polyposis colorectal cancer (HNPCC); Lynch syndrome; Muir-Torre syndrome; Turcot syndrome
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MUTYH |
mutY DNA glycosylase |
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- Familial adenomatous polyposis
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NF1 |
neurofibromin 1 |
- Regulation of RAS by GAPs
- RAS signaling downstream of NF1 loss-of-function variants
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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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NRAS |
NRAS proto-oncogene, GTPase |
- SOS-mediated signalling
- Activation of RAS in B cells
- Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
- SHC1 events in ERBB2 signaling
- SHC1 events in ERBB4 signaling
- Signaling by SCF-KIT
- Signalling to RAS
- p38MAPK events
- p38MAPK events
- GRB2 events in EGFR signaling
- SHC1 events in EGFR signaling
- Downstream signal transduction
- GRB2 events in ERBB2 signaling
- GRB2 events in ERBB2 signaling
- Tie2 Signaling
- EGFR Transactivation by Gastrin
- DAP12 signaling
- SHC-related events triggered by IGF1R
- FCERI mediated MAPK activation
- NCAM signaling for neurite out-growth
- Ras activation upon Ca2+ influx through NMDA receptor
- VEGFR2 mediated cell proliferation
- CD209 (DC-SIGN) signaling
- Constitutive Signaling by EGFRvIII
- SHC-mediated cascade:FGFR1
- FRS-mediated FGFR1 signaling
- SHC-mediated cascade:FGFR2
- FRS-mediated FGFR2 signaling
- SHC-mediated cascade:FGFR3
- FRS-mediated FGFR3 signaling
- FRS-mediated FGFR4 signaling
- SHC-mediated cascade:FGFR4
- Signaling by FGFR2 in disease
- Signaling by FGFR4 in disease
- Signaling by FGFR1 in disease
- Regulation of RAS by GAPs
- RAF activation
- RAF/MAP kinase cascade
- MAP2K and MAPK activation
- Negative regulation of MAPK pathway
- Neutrophil degranulation
- Signaling by moderate kinase activity BRAF mutants
- Signaling by high-kinase activity BRAF mutants
- Signaling by BRAF and RAF fusions
- RAS signaling downstream of NF1 loss-of-function variants
- Paradoxical activation of RAF signaling by kinase inactive BRAF
- Insulin receptor signalling cascade
- PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
- MET activates RAS signaling
- Signaling by FGFR3 fusions in cancer
- Signaling by FGFR3 point mutants in cancer
- Activated NTRK2 signals through RAS
- Erythropoietin activates RAS
- Activated NTRK2 signals through FRS2 and FRS3
- Activated NTRK3 signals through RAS
- FLT3 Signaling
- Constitutive Signaling by Overexpressed ERBB2
- Estrogen-stimulated signaling through PRKCZ
- RAS processing
- RAS GTPase cycle mutants
- Signaling downstream of RAS mutants
- Signaling by RAF1 mutants
- Signaling by ERBB2 KD Mutants
- Signaling by ERBB2 ECD mutants
- Signaling by ERBB2 TMD/JMD mutants
- Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants
- Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants
- Signaling by PDGFRA extracellular domain mutants
- Signaling by FLT3 fusion proteins
- Signaling by FLT3 ITD and TKD 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)
- Oral cancer
- Acute myeloid leukemia (AML)
- Multiple myeloma
- Adrenal carcinoma
- Thyroid cancer
- Hepatocellular carcinoma
- Autoimmune lymphoproliferative syndromes (ALPS), including the following five diseases: CD95 (Fas) defect, ALPS type 1a; CD95L (Fas ligand) defect, ALPS type 1b; Caspase 10 defect, ALPS type 2a; Caspase 8 defext, ALPS type 2b; Activaing N-Ras defect, N-Ras ALPS
- Malignant melanoma
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PDE6D |
phosphodiesterase 6D |
- ARL13B-mediated ciliary trafficking of INPP5E
- RAS processing
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PDGFRL |
platelet derived growth factor receptor like |
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