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RASSF1 |
Ras association domain family member 1 |
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- Non-small cell lung cancer
- Bladder cancer
- Nasopharyngeal cancer
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BTK |
Bruton tyrosine kinase |
- ER-Phagosome pathway
- MyD88:MAL(TIRAP) cascade initiated on plasma membrane
- Regulation of actin dynamics for phagocytic cup formation
- DAP12 signaling
- FCERI mediated Ca+2 mobilization
- FCERI mediated Ca+2 mobilization
- G alpha (q) signalling events
- G alpha (12/13) signalling events
- MyD88 deficiency (TLR2/4)
- IRAK4 deficiency (TLR2/4)
- RHO GTPases Activate WASPs and WAVEs
- G beta:gamma signalling through BTK
- FCGR3A-mediated phagocytosis
- Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
- Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
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- Dasatinib
- Inositol 1,3,4,5-Tetrakisphosphate
- XL418
- Ibrutinib
- Acalabrutinib
- Fostamatinib
- Zanubrutinib
- Abivertinib
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- Agammaglobulinemias, including the following six diseases: X-linked agammaglobulinemia (Bruton's agammaglobulinemia, XLA); IgM heavy chain gene deletions; Ig-alpha defect; Autosomal recessive agammaglobulinaemia; B cell-linker protein (BLNK) deficiency; Leucine-rich repeat-containing 8
- Pituitary Dwarfism (PD); Isolated growth hormone deficiency (IGHD); Short Stature and Pituitary Defects (SSPD); Insulin-like growth factor 1 deficiency (IGFD)
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NF2 |
neurofibromin 2 |
- Regulation of actin dynamics for phagocytic cup formation
- RHO GTPases activate PAKs
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- Malignant pleural mesothelioma
- 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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PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
- Interleukin-6 signaling
- PI3K Cascade
- MAPK3 (ERK1) activation
- MAPK1 (ERK2) activation
- GPVI-mediated activation cascade
- Prolactin receptor signaling
- PIP3 activates AKT signaling
- Spry regulation of FGF signaling
- Signaling by SCF-KIT
- GAB1 signalosome
- Downstream signal transduction
- PECAM1 interactions
- Tie2 Signaling
- Constitutive Signaling by Aberrant PI3K in Cancer
- Signaling by Leptin
- Costimulation by the CD28 family
- CTLA4 inhibitory signaling
- PD-1 signaling
- Signal regulatory protein family interactions
- Netrin mediated repulsion signals
- Platelet sensitization by LDL
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- PI-3K cascade:FGFR1
- FRS-mediated FGFR1 signaling
- PI-3K cascade:FGFR2
- FRS-mediated FGFR2 signaling
- FRS-mediated FGFR3 signaling
- PI-3K cascade:FGFR3
- FRS-mediated FGFR4 signaling
- PI-3K cascade:FGFR4
- Negative regulation of FGFR1 signaling
- Negative regulation of FGFR2 signaling
- Negative regulation of FGFR3 signaling
- Negative regulation of FGFR4 signaling
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- Regulation of IFNG signaling
- RET signaling
- Interleukin-20 family signaling
- MET activates PTPN11
- Regulation of RUNX1 Expression and Activity
- Interleukin-37 signaling
- Activated NTRK2 signals through FRS2 and FRS3
- Interferon alpha/beta signaling
- Regulation of IFNA signaling
- Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon
- FLT3 Signaling
- STAT5 Activation
- STAT5 activation downstream of FLT3 ITD mutants
- 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)
- Metachondromatosis
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STAT3 |
signal transducer and activator of transcription 3 |
- Interleukin-6 signaling
- BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
- Interleukin-7 signaling
- Interleukin-7 signaling
- Signaling by SCF-KIT
- Signaling by cytosolic FGFR1 fusion mutants
- Downstream signal transduction
- Signalling to STAT3
- Senescence-Associated Secretory Phenotype (SASP)
- Signaling by Leptin
- POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation
- Association of TriC/CCT with target proteins during biosynthesis
- Transcriptional regulation of pluripotent stem cells
- Interleukin-10 signaling
- Interleukin-4 and Interleukin-13 signaling
- PTK6 Activates STAT3
- PTK6 Activates STAT3
- Interleukin-20 family signaling
- MET activates STAT3
- MET activates STAT3
- Interleukin-15 signaling
- Interleukin-35 Signalling
- Interleukin-9 signaling
- Interleukin-37 signaling
- Interleukin-23 signaling
- Interleukin-23 signaling
- Interleukin-27 signaling
- Interleukin-21 signaling
- Transcriptional regulation of granulopoiesis
- 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
- Growth hormone receptor signaling
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- Other well-defined immunodeficiency syndromes, including the following seven diseases: Wiskott-Aldrich syndrome; DiGeorge syndrome; Hyper-IgE syndrome; X-linked lymphoproliferative syndrome; Immunodeficiency, Polyendocrinopathy, Enteropathy, X-linked Syndrome (IPEX); Cartilage-Hair Hypoplasia; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
- Oral cancer
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STK11 |
serine/threonine kinase 11 |
- AMPK inhibits chREBP transcriptional activation activity
- Energy dependent regulation of mTOR by LKB1-AMPK
- Regulation of TP53 Activity through Phosphorylation
- FOXO-mediated transcription of cell death genes
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- Peutz-Jeghers syndrome
- Pancreatic cancer
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BLK |
BLK proto-oncogene, Src family tyrosine kinase |
- RUNX1 regulates transcription of genes involved in BCR signaling
- Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
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- Fostamatinib
- Zanubrutinib
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- Maturity onset diabetes of the young (MODY)
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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
- Negative regulation of FLT3
- FLT3 signaling by CBL 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)
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CCND2 |
cyclin D2 |
- Cyclin D associated events in G1
- Regulation of RUNX1 Expression and Activity
- Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)
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CD44 |
CD44 molecule (Indian blood group) |
- Degradation of the extracellular matrix
- Cell surface interactions at the vascular wall
- Integrin cell surface interactions
- Hyaluronan uptake and degradation
- Neutrophil degranulation
- Interferon gamma signaling
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- Bivatuzumab
- Hyaluronic acid
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DCN |
decorin |
- Degradation of the extracellular matrix
- A tetrasaccharide linker sequence is required for GAG synthesis
- Chondroitin sulfate biosynthesis
- Dermatan sulfate biosynthesis
- CS/DS degradation
- ECM proteoglycans
- ECM proteoglycans
- Defective B4GALT7 causes EDS, progeroid type
- Defective B3GAT3 causes JDSSDHD
- Defective CHST3 causes SEDCJD
- Defective CHST14 causes EDS, musculocontractural type
- Defective CHSY1 causes TPBS
- Defective B3GALT6 causes EDSP2 and SEMDJL1
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- Congenital stromal corneal dystrophy (CSCD); Congenital hereditary stromal dystrophy; Witschel dystrophy
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GLIS2 |
GLIS family zinc finger 2 |
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- Nephronophthisis-medullary cystic kidney disease, including; Nephronophthisis (NPH) ; Nephronophthisis-like nephropathy 1; Medullary cystic kidney disease 1; Medullary cystic kidney disease 2 (MSKD2)
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GLMN |
glomulin, FKBP associated protein |
- Antigen processing: Ubiquitination & Proteasome degradation
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- Venous malformations, including: Sporadic venous malformation; Cutaneomucosal venous malformation; Glomuvenous malformation
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ITGB4 |
integrin subunit beta 4 |
- Assembly of collagen fibrils and other multimeric structures
- Laminin interactions
- Syndecan interactions
- Type I hemidesmosome assembly
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- Epidermolysis bullosa, junctional, including: Epidermolysis bullosa, junctional, Herlitz type (JEB-H); Epidermolysis bullosa, junctional, non-Herlitz type (JEB-nH); Epidermolysis bullosa, junctional, with pyloric atresia (JEB-PA)
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LCK |
LCK proto-oncogene, Src family tyrosine kinase |
- GPVI-mediated activation cascade
- PIP3 activates AKT signaling
- Signaling by SCF-KIT
- Signaling by SCF-KIT
- Regulation of KIT signaling
- Nef and signal transduction
- Nef Mediated CD4 Down-regulation
- Downstream TCR signaling
- Phosphorylation of CD3 and TCR zeta chains
- Translocation of ZAP-70 to Immunological synapse
- Generation of second messenger molecules
- PECAM1 interactions
- Constitutive Signaling by Aberrant PI3K in Cancer
- DAP12 signaling
- DAP12 signaling
- CD28 co-stimulation
- CD28 dependent PI3K/Akt signaling
- CD28 dependent Vav1 pathway
- CTLA4 inhibitory signaling
- PD-1 signaling
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- Interleukin-2 signaling
- Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants
- FLT3 signaling through SRC family kinases
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- Dasatinib
- AP-22408
- Staurosporine
- 1-Tert-Butyl-3-(4-Chloro-Phenyl)-1h-Pyrazolo[3,4-D]Pyrimidin-4-Ylamine
- {4-[(2S)-2-Acetamido-3-({(1S)-1-[3-carbamoyl-4-(cyclohexylmethoxy)phenyl]ethyl}amino)-3-oxopropyl]-2-phosphonophenoxy}acetic acid
- Phosphoaminophosphonic Acid-Adenylate Ester
- 3-(2-AMINOQUINAZOLIN-6-YL)-4-METHYL-N-[3-(TRIFLUOROMETHYL)PHENYL]BENZAMIDE
- 2,3-DIPHENYL-N-(2-PIPERAZIN-1-YLETHYL)FURO[2,3-B]PYRIDIN-4-AMINE
- 5,6-DIPHENYL-N-(2-PIPERAZIN-1-YLETHYL)FURO[2,3-D]PYRIMIDIN-4-AMINE
- N-(2-chlorophenyl)-5-phenylimidazo[1,5-a]pyrazin-8-amine
- N-(2,6-dimethylphenyl)-5-phenylimidazo[1,5-a]pyrazin-8-amine
- N-(2-chloro-6-methylphenyl)-8-[(3S)-3-methylpiperazin-1-yl]imidazo[1,5-a]quinoxalin-4-amine
- Ponatinib
- Nintedanib
- Fostamatinib
- Zanubrutinib
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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
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RASA1 |
RAS p21 protein activator 1 |
- Downstream signal transduction
- EPHB-mediated forward signaling
- EPHB-mediated forward signaling
- VEGFR2 mediated cell proliferation
- Regulation of RAS by GAPs
- PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
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- RASA1-related disorders, including: Parkes-Weber slndrome; Capillary malformation-arteriovenous malformation (CM-AVM); Arteriovenous fistula (AVF)
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SH2B3 |
SH2B adaptor protein 3 |
- Regulation of KIT signaling
- Negative regulation of FLT3
- Factors involved in megakaryocyte development and platelet production
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SH2D1A |
SH2 domain containing 1A |
- Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
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- Other well-defined immunodeficiency syndromes, including the following seven diseases: Wiskott-Aldrich syndrome; DiGeorge syndrome; Hyper-IgE syndrome; X-linked lymphoproliferative syndrome; Immunodeficiency, Polyendocrinopathy, Enteropathy, X-linked Syndrome (IPEX); Cartilage-Hair Hypoplasia; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
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SH3BP2 |
SH3 domain binding protein 2 |
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SMC1A |
structural maintenance of chromosomes 1A |
- Meiotic synapsis
- Separation of Sister Chromatids
- Establishment of Sister Chromatid Cohesion
- Cohesin Loading onto Chromatin
- Resolution of Sister Chromatid Cohesion
- SUMOylation of DNA damage response and repair proteins
- Estrogen-dependent gene expression
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- Cornelia de Lange syndrome (CdLS)
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