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Name 1
insulin like growth factor 1 receptor
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Name2
suppressor of cytokine signaling 2
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Pathway 1
- Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
- IRS-related events triggered by IGF1R
- SHC-related events triggered by IGF1R
- Extra-nuclear estrogen signaling
- Respiratory syncytial virus (RSV) attachment and entry
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Pathway 2
- Interleukin-7 signaling
- Neddylation
- Negative regulation of FLT3
- Growth hormone receptor signaling
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Drugs 1
- Insulin human
- Insulin lispro
- Insulin glargine
- Insulin pork
- Mecasermin
- Insulin aspart
- Insulin detemir
- Insulin glulisine
- Phosphoaminophosphonic Acid-Adenylate Ester
- ATL1101
- XL228
- rhIGFBP-3
- Linsitinib
- Teprotumumab
- (4Z)-6-bromo-4-({[4-(pyrrolidin-1-ylmethyl)phenyl]amino}methylidene)isoquinoline-1,3(2H,4H)-dione
- 3-[5-(1H-IMIDAZOL-1-YL)-7-METHYL-1H-BENZIMIDAZOL-2-YL]-4-[(PYRIDIN-2-YLMETHYL)AMINO]PYRIDIN-2(1H)-ONE
- Nandrolone decanoate
- Somatrem
- Insulin beef
- Insulin degludec
- Insulin argine
- Insulin peglispro
- Insulin tregopil
- Dalotuzumab
- Cixutumumab
- Brigatinib
- Mecasermin rinfabate
- BMS-754807
- KW-2450 free base
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Diseases 1
- Synovial sarcoma
- Malignant pleural mesothelioma
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Name 1
insulin like growth factor 1 receptor
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Name2
insulin like growth factor 2
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Pathway 1
- Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
- IRS-related events triggered by IGF1R
- SHC-related events triggered by IGF1R
- Extra-nuclear estrogen signaling
- Respiratory syncytial virus (RSV) attachment and entry
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Pathway 2
- Platelet degranulation
- Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
- IRS-related events triggered by IGF1R
- SHC-related events triggered by IGF1R
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
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Drugs 1
- Insulin human
- Insulin lispro
- Insulin glargine
- Insulin pork
- Mecasermin
- Insulin aspart
- Insulin detemir
- Insulin glulisine
- Phosphoaminophosphonic Acid-Adenylate Ester
- ATL1101
- XL228
- rhIGFBP-3
- Linsitinib
- Teprotumumab
- (4Z)-6-bromo-4-({[4-(pyrrolidin-1-ylmethyl)phenyl]amino}methylidene)isoquinoline-1,3(2H,4H)-dione
- 3-[5-(1H-IMIDAZOL-1-YL)-7-METHYL-1H-BENZIMIDAZOL-2-YL]-4-[(PYRIDIN-2-YLMETHYL)AMINO]PYRIDIN-2(1H)-ONE
- Nandrolone decanoate
- Somatrem
- Insulin beef
- Insulin degludec
- Insulin argine
- Insulin peglispro
- Insulin tregopil
- Dalotuzumab
- Cixutumumab
- Brigatinib
- Mecasermin rinfabate
- BMS-754807
- KW-2450 free base
|
|
Diseases 1
- Synovial sarcoma
- Malignant pleural mesothelioma
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Diseases 2
- Russell-Silver syndrome; Silver-Russell syndrome
- Beckwith-Wiedemann syndrome
- Adrenal carcinoma
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|
|
Name 1
insulin like growth factor 1 receptor
|
|
Pathway 1
- Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
- IRS-related events triggered by IGF1R
- SHC-related events triggered by IGF1R
- Extra-nuclear estrogen signaling
- Respiratory syncytial virus (RSV) attachment and entry
|
|
Drugs 1
- Insulin human
- Insulin lispro
- Insulin glargine
- Insulin pork
- Mecasermin
- Insulin aspart
- Insulin detemir
- Insulin glulisine
- Phosphoaminophosphonic Acid-Adenylate Ester
- ATL1101
- XL228
- rhIGFBP-3
- Linsitinib
- Teprotumumab
- (4Z)-6-bromo-4-({[4-(pyrrolidin-1-ylmethyl)phenyl]amino}methylidene)isoquinoline-1,3(2H,4H)-dione
- 3-[5-(1H-IMIDAZOL-1-YL)-7-METHYL-1H-BENZIMIDAZOL-2-YL]-4-[(PYRIDIN-2-YLMETHYL)AMINO]PYRIDIN-2(1H)-ONE
- Nandrolone decanoate
- Somatrem
- Insulin beef
- Insulin degludec
- Insulin argine
- Insulin peglispro
- Insulin tregopil
- Dalotuzumab
- Cixutumumab
- Brigatinib
- Mecasermin rinfabate
- BMS-754807
- KW-2450 free base
|
|
Diseases 1
- Synovial sarcoma
- Malignant pleural mesothelioma
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|
|
|
Name 1
insulin receptor substrate 1
|
|
Pathway 1
- PI3K Cascade
- IRS-mediated signalling
- SOS-mediated signalling
- SOS-mediated signalling
- PIP3 activates AKT signaling
- Interleukin-7 signaling
- PI3K/AKT activation
- PI3K/AKT activation
- Signaling by ALK
- Constitutive Signaling by Aberrant PI3K in Cancer
- IRS-related events triggered by IGF1R
- Signaling by Leptin
- RAF/MAP kinase cascade
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- IRS activation
- Signal attenuation
- Activated NTRK3 signals through PI3K
- Signaling by ALK fusions and activated point mutants
- Growth hormone receptor signaling
- Signaling by LTK
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Pathway 2
- Interleukin-6 signaling
- Interleukin-6 signaling
- MAPK3 (ERK1) activation
- MAPK1 (ERK2) activation
- Other interleukin signaling
- Interleukin-10 signaling
- Interleukin-4 and Interleukin-13 signaling
- IL-6-type cytokine receptor ligand interactions
- Interleukin-20 family signaling
- Interleukin-35 Signalling
- Interleukin-12 signaling
- Interleukin-12 signaling
- Interleukin-23 signaling
- Interleukin-23 signaling
- Interleukin-27 signaling
- Interleukin-27 signaling
- Interferon alpha/beta signaling
- Regulation of IFNA/IFNB signaling
- Regulation of IFNA/IFNB signaling
- Signaling by CSF3 (G-CSF)
- Signaling by CSF3 (G-CSF)
- Potential therapeutics for SARS
- Inactivation of CSF3 (G-CSF) signaling
- Inactivation of CSF3 (G-CSF) signaling
- SARS-CoV-2 activates/modulates innate and adaptive immune responses
- Signaling by ALK fusions and activated point mutants
- Evasion by RSV of host interferon responses
|
Drugs 1
- [4-({5-(AMINOCARBONYL)-4-[(3-METHYLPHENYL)AMINO]PYRIMIDIN-2-YL}AMINO)PHENYL]ACETIC ACID
|
Drugs 2
- 2-tert-butyl-9-fluoro-1,6-dihydrobenzo[h]imidazo[4,5-f]isoquinolin-7-one
- Ruxolitinib
- Tofacitinib
- Baricitinib
- Fostamatinib
- Abrocitinib
- Deucravacitinib
|
|
Diseases 2
- 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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Name2
ectonucleotide pyrophosphatase/phosphodiesterase 1
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Pathway 1
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- IRS activation
- Signal attenuation
- Insulin receptor signalling cascade
- Signaling by Insulin receptor
- Insulin receptor recycling
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Pathway 2
- Vitamin B2 (riboflavin) metabolism
- Vitamin B5 (pantothenate) metabolism
|
Drugs 1
- Insulin human
- Insulin lispro
- Insulin glargine
- Insulin pork
- Mecasermin
- Insulin aspart
- Insulin detemir
- Insulin glulisine
- Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate
- NN344
- AT1391
- Linsitinib
- [4-({5-(AMINOCARBONYL)-4-[(3-METHYLPHENYL)AMINO]PYRIMIDIN-2-YL}AMINO)PHENYL]ACETIC ACID
- Chromic chloride
- Insulin beef
- Insulin degludec
- Insulin argine
- Insulin peglispro
- Insulin tregopil
- Fostamatinib
- Brigatinib
- Mecasermin rinfabate
- BMS-754807
- KW-2450 free base
|
Drugs 2
- Taribavirin
- Polyethylene glycol 400
|
Diseases 1
- Leprechaunism ; Donohue syndrome
- Rabson-Mendenhall syndrome
|
Diseases 2
- Ossification of the posterior longitudinal ligament of spine (OPLL)
- Generalized arterial calcification of infancy
- Type II diabetes mellitus
|
|
|
|
|
Pathway 1
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- IRS activation
- Signal attenuation
- Insulin receptor signalling cascade
- Signaling by Insulin receptor
- Insulin receptor recycling
|
|
Drugs 1
- Insulin human
- Insulin lispro
- Insulin glargine
- Insulin pork
- Mecasermin
- Insulin aspart
- Insulin detemir
- Insulin glulisine
- Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate
- NN344
- AT1391
- Linsitinib
- [4-({5-(AMINOCARBONYL)-4-[(3-METHYLPHENYL)AMINO]PYRIMIDIN-2-YL}AMINO)PHENYL]ACETIC ACID
- Chromic chloride
- Insulin beef
- Insulin degludec
- Insulin argine
- Insulin peglispro
- Insulin tregopil
- Fostamatinib
- Brigatinib
- Mecasermin rinfabate
- BMS-754807
- KW-2450 free base
|
|
Diseases 1
- Leprechaunism ; Donohue syndrome
- Rabson-Mendenhall syndrome
|
|
|
|
|
Name2
sorbin and SH3 domain containing 1
|
Pathway 1
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- IRS activation
- Signal attenuation
- Insulin receptor signalling cascade
- Signaling by Insulin receptor
- Insulin receptor recycling
|
Pathway 2
- Smooth Muscle Contraction
|
Drugs 1
- Insulin human
- Insulin lispro
- Insulin glargine
- Insulin pork
- Mecasermin
- Insulin aspart
- Insulin detemir
- Insulin glulisine
- Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate
- NN344
- AT1391
- Linsitinib
- [4-({5-(AMINOCARBONYL)-4-[(3-METHYLPHENYL)AMINO]PYRIMIDIN-2-YL}AMINO)PHENYL]ACETIC ACID
- Chromic chloride
- Insulin beef
- Insulin degludec
- Insulin argine
- Insulin peglispro
- Insulin tregopil
- Fostamatinib
- Brigatinib
- Mecasermin rinfabate
- BMS-754807
- KW-2450 free base
|
|
Diseases 1
- Leprechaunism ; Donohue syndrome
- Rabson-Mendenhall syndrome
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|
|
|
|
Name2
interleukin 23 receptor
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Pathway 1
- Interleukin-6 signaling
- Interleukin-6 signaling
- MAPK3 (ERK1) activation
- MAPK1 (ERK2) activation
- Prolactin receptor signaling
- Prolactin receptor signaling
- Signaling by SCF-KIT
- Signaling by Leptin
- RMTs methylate histone arginines
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- RAF activation
- RAF/MAP kinase cascade
- Interleukin-4 and Interleukin-13 signaling
- IL-6-type cytokine receptor ligand interactions
- Signaling by moderate kinase activity BRAF mutants
- Signaling by BRAF and RAF1 fusions
- Paradoxical activation of RAF signaling by kinase inactive BRAF
- Cyclin D associated events in G1
- Interferon gamma signaling
- Regulation of IFNG signaling
- Regulation of IFNG signaling
- Interleukin-20 family signaling
- Interleukin-35 Signalling
- Signaling by Erythropoietin
- Signaling by Erythropoietin
- Interleukin-12 signaling
- Interleukin-12 signaling
- Interleukin-23 signaling
- Interleukin-23 signaling
- Interleukin-27 signaling
- Interleukin-27 signaling
- Erythropoietin activates Phosphoinositide-3-kinase (PI3K)
- Erythropoietin activates Phosphoinositide-3-kinase (PI3K)
- Erythropoietin activates Phospholipase C gamma (PLCG)
- Erythropoietin activates STAT5
- Erythropoietin activates RAS
- Erythropoietin activates RAS
- Interleukin receptor SHC signaling
- Signaling downstream of RAS mutants
- Signaling by RAF1 mutants
- Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants
- Signaling by CSF3 (G-CSF)
- Signaling by CSF3 (G-CSF)
- Potential therapeutics for SARS
- Inactivation of CSF3 (G-CSF) signaling
- Inactivation of CSF3 (G-CSF) signaling
- IFNG signaling activates MAPKs
- Growth hormone receptor signaling
- Growth hormone receptor signaling
- Factors involved in megakaryocyte development and platelet production
|
Pathway 2
- Interleukin-4 and Interleukin-13 signaling
- Interleukin-23 signaling
- Interleukin-23 signaling
|
Drugs 1
- 2-tert-butyl-9-fluoro-1,6-dihydrobenzo[h]imidazo[4,5-f]isoquinolin-7-one
- XL019
- 5-phenyl-1H-indazol-3-amine
- 4-(3-amino-1H-indazol-5-yl)-N-tert-butylbenzenesulfonamide
- 4-[(2-{4-[(CYCLOPROPYLCARBAMOYL)AMINO]-1H-PYRAZOL-3-YL}-1H-BENZIMIDAZOL-6-YL)METHYL]MORPHOLIN-4-IUM
- Ruxolitinib
- Tofacitinib
- Pacritinib
- Baricitinib
- Entrectinib
- Fostamatinib
- Fedratinib
- Abrocitinib
- Zanubrutinib
- Pralsetinib
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Name2
oxysterol binding protein like 3
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Pathway 1
- Major pathway of rRNA processing in the nucleolus and cytosol
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Pathway 2
- Synthesis of bile acids and bile salts
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Name2
katanin catalytic subunit A1 like 1
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Pathway 1
- Major pathway of rRNA processing in the nucleolus and cytosol
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Name2
RALY heterogeneous nuclear ribonucleoprotein
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Pathway 1
- Major pathway of rRNA processing in the nucleolus and cytosol
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|
|
Name 1
Cbl proto-oncogene
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Name2
leukocyte receptor tyrosine kinase
|
Pathway 1
- 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
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|
|
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Diseases 1
- 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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|
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Name 1
Cbl proto-oncogene
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Name2
leucine rich repeats and immunoglobulin like domains 1
|
Pathway 1
- 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
|
Pathway 2
- Signaling by EGFR
- Negative regulation of MET activity
- Differentiation of Keratinocytes in Interfollicular Epidermis in Mammalian Skin
|
|
|
Diseases 1
- 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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|
|
|
Name 1
Cbl proto-oncogene
|
Name2
myosin heavy chain 9
|
Pathway 1
- 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
|
Pathway 2
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Regulation of actin dynamics for phagocytic cup formation
- EPHA-mediated growth cone collapse
- Sema4D induced cell migration and growth-cone collapse
- RHO GTPases activate PKNs
- RHO GTPases activate CIT
- RHO GTPases Activate ROCKs
- RHO GTPases activate PAKs
- RHO GTPases activate PAKs
- Sensory processing of sound by inner hair cells of the cochlea
- Sensory processing of sound by outer hair cells of the cochlea
- CD163 mediating an anti-inflammatory response
- FCGR3A-mediated phagocytosis
- Signaling by ALK fusions and activated point mutants
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|
|
Diseases 1
- 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)
|
Diseases 2
- MYH9-related kidney diseases, including: Epstein syndrome; Fechtner syndrome
- Macrothrombocytopenia; May-Hegglin anomaly; Sebastian syndrome; Fechtner syndrome; Epstein syndrome
- Deafness, autosomal dominant
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Name2
coiled-coil domain containing 146
|
Pathway 1
- Keratinization
- Formation of the cornified envelope
- Developmental Lineage of Mammary Gland Luminal Epithelial Cells
- Developmental Lineage of Mammary Gland Alveolar Cells
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Name2
protein tyrosine phosphatase non-receptor type 9
|
Pathway 1
- XBP1(S) activates chaperone genes
- Signaling by BRAF and RAF1 fusions
|
|
|
|
Diseases 1
- Mandibuloacral dysplasia
- Familial partial lipodystrophy (FPL), including the following four diseases: Kobberling-type lipodystrophy (FPLD1); Dunnigan-type lipodystrophy (FPLD2); Dunnigan-like lipodystrophy (FPLD3); AKT2 associated lipodystrophy
- Emery-Dreifuss muscular dystrophy
- Dilated cardiomyopathy (DCM)
- Limb-girdle muscular dystrophy (LGMD)
- Hutchinson-Gilford progeria syndrome
- Restrictive dermopathy
- Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
- Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy
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Name2
transferrin receptor
|
Pathway 1
- XBP1(S) activates chaperone genes
- Signaling by BRAF and RAF1 fusions
|
Pathway 2
- Golgi Associated Vesicle Biogenesis
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- RHOA GTPase cycle
- RHOB GTPase cycle
- RHOC GTPase cycle
- CDC42 GTPase cycle
- RAC1 GTPase cycle
- RAC2 GTPase cycle
- RHOQ GTPase cycle
- RHOH GTPase cycle
- RHOG GTPase cycle
- RHOJ GTPase cycle
- RAC3 GTPase cycle
- Transferrin endocytosis and recycling
- RND2 GTPase cycle
- RND1 GTPase cycle
- Differentiation of Keratinocytes in Interfollicular Epidermis in Mammalian Skin
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Drugs 2
- Iron
- Ferrous sulfate anhydrous
- Ferric cation
- Ferrous gluconate
- Ferrous succinate
- Ferrous ascorbate
- Ferrous fumarate
- Ferrous glycine sulfate
- Tetraferric tricitrate decahydrate
- Ferric derisomaltose
|
Diseases 1
- Mandibuloacral dysplasia
- Familial partial lipodystrophy (FPL), including the following four diseases: Kobberling-type lipodystrophy (FPLD1); Dunnigan-type lipodystrophy (FPLD2); Dunnigan-like lipodystrophy (FPLD3); AKT2 associated lipodystrophy
- Emery-Dreifuss muscular dystrophy
- Dilated cardiomyopathy (DCM)
- Limb-girdle muscular dystrophy (LGMD)
- Hutchinson-Gilford progeria syndrome
- Restrictive dermopathy
- Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
- Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy
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Name2
N-acetyltransferase 8 (putative)
|
Pathway 1
- XBP1(S) activates chaperone genes
- Signaling by BRAF and RAF1 fusions
|
|
|
|
Diseases 1
- Mandibuloacral dysplasia
- Familial partial lipodystrophy (FPL), including the following four diseases: Kobberling-type lipodystrophy (FPLD1); Dunnigan-type lipodystrophy (FPLD2); Dunnigan-like lipodystrophy (FPLD3); AKT2 associated lipodystrophy
- Emery-Dreifuss muscular dystrophy
- Dilated cardiomyopathy (DCM)
- Limb-girdle muscular dystrophy (LGMD)
- Hutchinson-Gilford progeria syndrome
- Restrictive dermopathy
- Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
- Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy
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Name2
transmembrane protein 51
|
Pathway 1
- XBP1(S) activates chaperone genes
- Signaling by BRAF and RAF1 fusions
|
|
|
|
Diseases 1
- Mandibuloacral dysplasia
- Familial partial lipodystrophy (FPL), including the following four diseases: Kobberling-type lipodystrophy (FPLD1); Dunnigan-type lipodystrophy (FPLD2); Dunnigan-like lipodystrophy (FPLD3); AKT2 associated lipodystrophy
- Emery-Dreifuss muscular dystrophy
- Dilated cardiomyopathy (DCM)
- Limb-girdle muscular dystrophy (LGMD)
- Hutchinson-Gilford progeria syndrome
- Restrictive dermopathy
- Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
- Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy
|
|
|
|
|
Name2
solute carrier family 13 member 3
|
Pathway 1
- XBP1(S) activates chaperone genes
- Signaling by BRAF and RAF1 fusions
|
Pathway 2
- SLC-mediated transport of organic anions
|
|
|
Diseases 1
- Mandibuloacral dysplasia
- Familial partial lipodystrophy (FPL), including the following four diseases: Kobberling-type lipodystrophy (FPLD1); Dunnigan-type lipodystrophy (FPLD2); Dunnigan-like lipodystrophy (FPLD3); AKT2 associated lipodystrophy
- Emery-Dreifuss muscular dystrophy
- Dilated cardiomyopathy (DCM)
- Limb-girdle muscular dystrophy (LGMD)
- Hutchinson-Gilford progeria syndrome
- Restrictive dermopathy
- Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
- Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy
|
|
|
|
Name 1
insulin like growth factor 1 receptor
|
Name2
suppressor of cytokine signaling 2
|
Pathway 1
- Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
- IRS-related events triggered by IGF1R
- SHC-related events triggered by IGF1R
- Extra-nuclear estrogen signaling
- Respiratory syncytial virus (RSV) attachment and entry
|
Pathway 2
- Interleukin-7 signaling
- Neddylation
- Negative regulation of FLT3
- Growth hormone receptor signaling
|
Drugs 1
- Insulin human
- Insulin lispro
- Insulin glargine
- Insulin pork
- Mecasermin
- Insulin aspart
- Insulin detemir
- Insulin glulisine
- Phosphoaminophosphonic Acid-Adenylate Ester
- ATL1101
- XL228
- rhIGFBP-3
- Linsitinib
- Teprotumumab
- (4Z)-6-bromo-4-({[4-(pyrrolidin-1-ylmethyl)phenyl]amino}methylidene)isoquinoline-1,3(2H,4H)-dione
- 3-[5-(1H-IMIDAZOL-1-YL)-7-METHYL-1H-BENZIMIDAZOL-2-YL]-4-[(PYRIDIN-2-YLMETHYL)AMINO]PYRIDIN-2(1H)-ONE
- Nandrolone decanoate
- Somatrem
- Insulin beef
- Insulin degludec
- Insulin argine
- Insulin peglispro
- Insulin tregopil
- Dalotuzumab
- Cixutumumab
- Brigatinib
- Mecasermin rinfabate
- BMS-754807
- KW-2450 free base
|
|
Diseases 1
- Synovial sarcoma
- Malignant pleural mesothelioma
|
|
|
|
Name 1
insulin like growth factor 1 receptor
|
Name2
insulin like growth factor 2
|
Pathway 1
- Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
- IRS-related events triggered by IGF1R
- SHC-related events triggered by IGF1R
- Extra-nuclear estrogen signaling
- Respiratory syncytial virus (RSV) attachment and entry
|
Pathway 2
- Platelet degranulation
- Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
- IRS-related events triggered by IGF1R
- SHC-related events triggered by IGF1R
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
|
Drugs 1
- Insulin human
- Insulin lispro
- Insulin glargine
- Insulin pork
- Mecasermin
- Insulin aspart
- Insulin detemir
- Insulin glulisine
- Phosphoaminophosphonic Acid-Adenylate Ester
- ATL1101
- XL228
- rhIGFBP-3
- Linsitinib
- Teprotumumab
- (4Z)-6-bromo-4-({[4-(pyrrolidin-1-ylmethyl)phenyl]amino}methylidene)isoquinoline-1,3(2H,4H)-dione
- 3-[5-(1H-IMIDAZOL-1-YL)-7-METHYL-1H-BENZIMIDAZOL-2-YL]-4-[(PYRIDIN-2-YLMETHYL)AMINO]PYRIDIN-2(1H)-ONE
- Nandrolone decanoate
- Somatrem
- Insulin beef
- Insulin degludec
- Insulin argine
- Insulin peglispro
- Insulin tregopil
- Dalotuzumab
- Cixutumumab
- Brigatinib
- Mecasermin rinfabate
- BMS-754807
- KW-2450 free base
|
|
Diseases 1
- Synovial sarcoma
- Malignant pleural mesothelioma
|
Diseases 2
- Russell-Silver syndrome; Silver-Russell syndrome
- Beckwith-Wiedemann syndrome
- Adrenal carcinoma
|
|
|
Name 1
insulin like growth factor 1 receptor
|
|
Pathway 1
- Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
- IRS-related events triggered by IGF1R
- SHC-related events triggered by IGF1R
- Extra-nuclear estrogen signaling
- Respiratory syncytial virus (RSV) attachment and entry
|
|
Drugs 1
- Insulin human
- Insulin lispro
- Insulin glargine
- Insulin pork
- Mecasermin
- Insulin aspart
- Insulin detemir
- Insulin glulisine
- Phosphoaminophosphonic Acid-Adenylate Ester
- ATL1101
- XL228
- rhIGFBP-3
- Linsitinib
- Teprotumumab
- (4Z)-6-bromo-4-({[4-(pyrrolidin-1-ylmethyl)phenyl]amino}methylidene)isoquinoline-1,3(2H,4H)-dione
- 3-[5-(1H-IMIDAZOL-1-YL)-7-METHYL-1H-BENZIMIDAZOL-2-YL]-4-[(PYRIDIN-2-YLMETHYL)AMINO]PYRIDIN-2(1H)-ONE
- Nandrolone decanoate
- Somatrem
- Insulin beef
- Insulin degludec
- Insulin argine
- Insulin peglispro
- Insulin tregopil
- Dalotuzumab
- Cixutumumab
- Brigatinib
- Mecasermin rinfabate
- BMS-754807
- KW-2450 free base
|
|
Diseases 1
- Synovial sarcoma
- Malignant pleural mesothelioma
|
|
|
|
Name 1
insulin receptor substrate 1
|
|
Pathway 1
- PI3K Cascade
- IRS-mediated signalling
- SOS-mediated signalling
- SOS-mediated signalling
- PIP3 activates AKT signaling
- Interleukin-7 signaling
- PI3K/AKT activation
- PI3K/AKT activation
- Signaling by ALK
- Constitutive Signaling by Aberrant PI3K in Cancer
- IRS-related events triggered by IGF1R
- Signaling by Leptin
- RAF/MAP kinase cascade
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- IRS activation
- Signal attenuation
- Activated NTRK3 signals through PI3K
- Signaling by ALK fusions and activated point mutants
- Growth hormone receptor signaling
- Signaling by LTK
|
Pathway 2
- Interleukin-6 signaling
- Interleukin-6 signaling
- MAPK3 (ERK1) activation
- MAPK1 (ERK2) activation
- Other interleukin signaling
- Interleukin-10 signaling
- Interleukin-4 and Interleukin-13 signaling
- IL-6-type cytokine receptor ligand interactions
- Interleukin-20 family signaling
- Interleukin-35 Signalling
- Interleukin-12 signaling
- Interleukin-12 signaling
- Interleukin-23 signaling
- Interleukin-23 signaling
- Interleukin-27 signaling
- Interleukin-27 signaling
- Interferon alpha/beta signaling
- Regulation of IFNA/IFNB signaling
- Regulation of IFNA/IFNB signaling
- Signaling by CSF3 (G-CSF)
- Signaling by CSF3 (G-CSF)
- Potential therapeutics for SARS
- Inactivation of CSF3 (G-CSF) signaling
- Inactivation of CSF3 (G-CSF) signaling
- SARS-CoV-2 activates/modulates innate and adaptive immune responses
- Signaling by ALK fusions and activated point mutants
- Evasion by RSV of host interferon responses
|
Drugs 1
- [4-({5-(AMINOCARBONYL)-4-[(3-METHYLPHENYL)AMINO]PYRIMIDIN-2-YL}AMINO)PHENYL]ACETIC ACID
|
Drugs 2
- 2-tert-butyl-9-fluoro-1,6-dihydrobenzo[h]imidazo[4,5-f]isoquinolin-7-one
- Ruxolitinib
- Tofacitinib
- Baricitinib
- Fostamatinib
- Abrocitinib
- Deucravacitinib
|
|
Diseases 2
- 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)
|
|
|
|
Name2
ectonucleotide pyrophosphatase/phosphodiesterase 1
|
Pathway 1
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- IRS activation
- Signal attenuation
- Insulin receptor signalling cascade
- Signaling by Insulin receptor
- Insulin receptor recycling
|
Pathway 2
- Vitamin B2 (riboflavin) metabolism
- Vitamin B5 (pantothenate) metabolism
|
Drugs 1
- Insulin human
- Insulin lispro
- Insulin glargine
- Insulin pork
- Mecasermin
- Insulin aspart
- Insulin detemir
- Insulin glulisine
- Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate
- NN344
- AT1391
- Linsitinib
- [4-({5-(AMINOCARBONYL)-4-[(3-METHYLPHENYL)AMINO]PYRIMIDIN-2-YL}AMINO)PHENYL]ACETIC ACID
- Chromic chloride
- Insulin beef
- Insulin degludec
- Insulin argine
- Insulin peglispro
- Insulin tregopil
- Fostamatinib
- Brigatinib
- Mecasermin rinfabate
- BMS-754807
- KW-2450 free base
|
Drugs 2
- Taribavirin
- Polyethylene glycol 400
|
Diseases 1
- Leprechaunism ; Donohue syndrome
- Rabson-Mendenhall syndrome
|
Diseases 2
- Ossification of the posterior longitudinal ligament of spine (OPLL)
- Generalized arterial calcification of infancy
- Type II diabetes mellitus
|
|
|
|
|
Pathway 1
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- IRS activation
- Signal attenuation
- Insulin receptor signalling cascade
- Signaling by Insulin receptor
- Insulin receptor recycling
|
|
Drugs 1
- Insulin human
- Insulin lispro
- Insulin glargine
- Insulin pork
- Mecasermin
- Insulin aspart
- Insulin detemir
- Insulin glulisine
- Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate
- NN344
- AT1391
- Linsitinib
- [4-({5-(AMINOCARBONYL)-4-[(3-METHYLPHENYL)AMINO]PYRIMIDIN-2-YL}AMINO)PHENYL]ACETIC ACID
- Chromic chloride
- Insulin beef
- Insulin degludec
- Insulin argine
- Insulin peglispro
- Insulin tregopil
- Fostamatinib
- Brigatinib
- Mecasermin rinfabate
- BMS-754807
- KW-2450 free base
|
|
Diseases 1
- Leprechaunism ; Donohue syndrome
- Rabson-Mendenhall syndrome
|
|
|
|
|
Name2
sorbin and SH3 domain containing 1
|
Pathway 1
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- IRS activation
- Signal attenuation
- Insulin receptor signalling cascade
- Signaling by Insulin receptor
- Insulin receptor recycling
|
Pathway 2
- Smooth Muscle Contraction
|
Drugs 1
- Insulin human
- Insulin lispro
- Insulin glargine
- Insulin pork
- Mecasermin
- Insulin aspart
- Insulin detemir
- Insulin glulisine
- Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate
- NN344
- AT1391
- Linsitinib
- [4-({5-(AMINOCARBONYL)-4-[(3-METHYLPHENYL)AMINO]PYRIMIDIN-2-YL}AMINO)PHENYL]ACETIC ACID
- Chromic chloride
- Insulin beef
- Insulin degludec
- Insulin argine
- Insulin peglispro
- Insulin tregopil
- Fostamatinib
- Brigatinib
- Mecasermin rinfabate
- BMS-754807
- KW-2450 free base
|
|
Diseases 1
- Leprechaunism ; Donohue syndrome
- Rabson-Mendenhall syndrome
|
|
|
|
|
Name2
interleukin 23 receptor
|
Pathway 1
- Interleukin-6 signaling
- Interleukin-6 signaling
- MAPK3 (ERK1) activation
- MAPK1 (ERK2) activation
- Prolactin receptor signaling
- Prolactin receptor signaling
- Signaling by SCF-KIT
- Signaling by Leptin
- RMTs methylate histone arginines
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- RAF activation
- RAF/MAP kinase cascade
- Interleukin-4 and Interleukin-13 signaling
- IL-6-type cytokine receptor ligand interactions
- Signaling by moderate kinase activity BRAF mutants
- Signaling by BRAF and RAF1 fusions
- Paradoxical activation of RAF signaling by kinase inactive BRAF
- Cyclin D associated events in G1
- Interferon gamma signaling
- Regulation of IFNG signaling
- Regulation of IFNG signaling
- Interleukin-20 family signaling
- Interleukin-35 Signalling
- Signaling by Erythropoietin
- Signaling by Erythropoietin
- Interleukin-12 signaling
- Interleukin-12 signaling
- Interleukin-23 signaling
- Interleukin-23 signaling
- Interleukin-27 signaling
- Interleukin-27 signaling
- Erythropoietin activates Phosphoinositide-3-kinase (PI3K)
- Erythropoietin activates Phosphoinositide-3-kinase (PI3K)
- Erythropoietin activates Phospholipase C gamma (PLCG)
- Erythropoietin activates STAT5
- Erythropoietin activates RAS
- Erythropoietin activates RAS
- Interleukin receptor SHC signaling
- Signaling downstream of RAS mutants
- Signaling by RAF1 mutants
- Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants
- Signaling by CSF3 (G-CSF)
- Signaling by CSF3 (G-CSF)
- Potential therapeutics for SARS
- Inactivation of CSF3 (G-CSF) signaling
- Inactivation of CSF3 (G-CSF) signaling
- IFNG signaling activates MAPKs
- Growth hormone receptor signaling
- Growth hormone receptor signaling
- Factors involved in megakaryocyte development and platelet production
|
Pathway 2
- Interleukin-4 and Interleukin-13 signaling
- Interleukin-23 signaling
- Interleukin-23 signaling
|
Drugs 1
- 2-tert-butyl-9-fluoro-1,6-dihydrobenzo[h]imidazo[4,5-f]isoquinolin-7-one
- XL019
- 5-phenyl-1H-indazol-3-amine
- 4-(3-amino-1H-indazol-5-yl)-N-tert-butylbenzenesulfonamide
- 4-[(2-{4-[(CYCLOPROPYLCARBAMOYL)AMINO]-1H-PYRAZOL-3-YL}-1H-BENZIMIDAZOL-6-YL)METHYL]MORPHOLIN-4-IUM
- Ruxolitinib
- Tofacitinib
- Pacritinib
- Baricitinib
- Entrectinib
- Fostamatinib
- Fedratinib
- Abrocitinib
- Zanubrutinib
- Pralsetinib
|
|
|
|
|
|
|
Name2
oxysterol binding protein like 3
|
Pathway 1
- Major pathway of rRNA processing in the nucleolus and cytosol
|
Pathway 2
- Synthesis of bile acids and bile salts
|
|
|
|
|
|
|
|
Name2
katanin catalytic subunit A1 like 1
|
Pathway 1
- Major pathway of rRNA processing in the nucleolus and cytosol
|
|
|
|
|
|
|
|
|
Name2
RALY heterogeneous nuclear ribonucleoprotein
|
Pathway 1
- Major pathway of rRNA processing in the nucleolus and cytosol
|
|
|
|
|
|
|
|
Name 1
Cbl proto-oncogene
|
Name2
leukocyte receptor tyrosine kinase
|
Pathway 1
- 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
|
|
|
|
Diseases 1
- 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)
|
|
|
|
Name 1
Cbl proto-oncogene
|
Name2
leucine rich repeats and immunoglobulin like domains 1
|
Pathway 1
- 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
|
Pathway 2
- Signaling by EGFR
- Negative regulation of MET activity
- Differentiation of Keratinocytes in Interfollicular Epidermis in Mammalian Skin
|
|
|
Diseases 1
- 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)
|
|
|
|
Name 1
Cbl proto-oncogene
|
Name2
myosin heavy chain 9
|
Pathway 1
- 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
|
Pathway 2
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Regulation of actin dynamics for phagocytic cup formation
- EPHA-mediated growth cone collapse
- Sema4D induced cell migration and growth-cone collapse
- RHO GTPases activate PKNs
- RHO GTPases activate CIT
- RHO GTPases Activate ROCKs
- RHO GTPases activate PAKs
- RHO GTPases activate PAKs
- Sensory processing of sound by inner hair cells of the cochlea
- Sensory processing of sound by outer hair cells of the cochlea
- CD163 mediating an anti-inflammatory response
- FCGR3A-mediated phagocytosis
- Signaling by ALK fusions and activated point mutants
|
|
|
Diseases 1
- 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)
|
Diseases 2
- MYH9-related kidney diseases, including: Epstein syndrome; Fechtner syndrome
- Macrothrombocytopenia; May-Hegglin anomaly; Sebastian syndrome; Fechtner syndrome; Epstein syndrome
- Deafness, autosomal dominant
|
|
|
|
Name2
coiled-coil domain containing 146
|
Pathway 1
- Keratinization
- Formation of the cornified envelope
- Developmental Lineage of Mammary Gland Luminal Epithelial Cells
- Developmental Lineage of Mammary Gland Alveolar Cells
|
|
|
|
|
|
|
|
|
Name2
protein tyrosine phosphatase non-receptor type 9
|
Pathway 1
- XBP1(S) activates chaperone genes
- Signaling by BRAF and RAF1 fusions
|
|
|
|
Diseases 1
- Mandibuloacral dysplasia
- Familial partial lipodystrophy (FPL), including the following four diseases: Kobberling-type lipodystrophy (FPLD1); Dunnigan-type lipodystrophy (FPLD2); Dunnigan-like lipodystrophy (FPLD3); AKT2 associated lipodystrophy
- Emery-Dreifuss muscular dystrophy
- Dilated cardiomyopathy (DCM)
- Limb-girdle muscular dystrophy (LGMD)
- Hutchinson-Gilford progeria syndrome
- Restrictive dermopathy
- Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
- Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy
|
|
|
|
|
Name2
transferrin receptor
|
Pathway 1
- XBP1(S) activates chaperone genes
- Signaling by BRAF and RAF1 fusions
|
Pathway 2
- Golgi Associated Vesicle Biogenesis
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- RHOA GTPase cycle
- RHOB GTPase cycle
- RHOC GTPase cycle
- CDC42 GTPase cycle
- RAC1 GTPase cycle
- RAC2 GTPase cycle
- RHOQ GTPase cycle
- RHOH GTPase cycle
- RHOG GTPase cycle
- RHOJ GTPase cycle
- RAC3 GTPase cycle
- Transferrin endocytosis and recycling
- RND2 GTPase cycle
- RND1 GTPase cycle
- Differentiation of Keratinocytes in Interfollicular Epidermis in Mammalian Skin
|
|
Drugs 2
- Iron
- Ferrous sulfate anhydrous
- Ferric cation
- Ferrous gluconate
- Ferrous succinate
- Ferrous ascorbate
- Ferrous fumarate
- Ferrous glycine sulfate
- Tetraferric tricitrate decahydrate
- Ferric derisomaltose
|
Diseases 1
- Mandibuloacral dysplasia
- Familial partial lipodystrophy (FPL), including the following four diseases: Kobberling-type lipodystrophy (FPLD1); Dunnigan-type lipodystrophy (FPLD2); Dunnigan-like lipodystrophy (FPLD3); AKT2 associated lipodystrophy
- Emery-Dreifuss muscular dystrophy
- Dilated cardiomyopathy (DCM)
- Limb-girdle muscular dystrophy (LGMD)
- Hutchinson-Gilford progeria syndrome
- Restrictive dermopathy
- Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
- Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy
|
|
|
|
|
Name2
N-acetyltransferase 8 (putative)
|
Pathway 1
- XBP1(S) activates chaperone genes
- Signaling by BRAF and RAF1 fusions
|
|
|
|
Diseases 1
- Mandibuloacral dysplasia
- Familial partial lipodystrophy (FPL), including the following four diseases: Kobberling-type lipodystrophy (FPLD1); Dunnigan-type lipodystrophy (FPLD2); Dunnigan-like lipodystrophy (FPLD3); AKT2 associated lipodystrophy
- Emery-Dreifuss muscular dystrophy
- Dilated cardiomyopathy (DCM)
- Limb-girdle muscular dystrophy (LGMD)
- Hutchinson-Gilford progeria syndrome
- Restrictive dermopathy
- Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
- Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy
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Name2
transmembrane protein 51
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Pathway 1
- XBP1(S) activates chaperone genes
- Signaling by BRAF and RAF1 fusions
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Diseases 1
- Mandibuloacral dysplasia
- Familial partial lipodystrophy (FPL), including the following four diseases: Kobberling-type lipodystrophy (FPLD1); Dunnigan-type lipodystrophy (FPLD2); Dunnigan-like lipodystrophy (FPLD3); AKT2 associated lipodystrophy
- Emery-Dreifuss muscular dystrophy
- Dilated cardiomyopathy (DCM)
- Limb-girdle muscular dystrophy (LGMD)
- Hutchinson-Gilford progeria syndrome
- Restrictive dermopathy
- Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
- Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy
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Name2
solute carrier family 13 member 3
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Pathway 1
- XBP1(S) activates chaperone genes
- Signaling by BRAF and RAF1 fusions
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Pathway 2
- SLC-mediated transport of organic anions
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Diseases 1
- Mandibuloacral dysplasia
- Familial partial lipodystrophy (FPL), including the following four diseases: Kobberling-type lipodystrophy (FPLD1); Dunnigan-type lipodystrophy (FPLD2); Dunnigan-like lipodystrophy (FPLD3); AKT2 associated lipodystrophy
- Emery-Dreifuss muscular dystrophy
- Dilated cardiomyopathy (DCM)
- Limb-girdle muscular dystrophy (LGMD)
- Hutchinson-Gilford progeria syndrome
- Restrictive dermopathy
- Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
- Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy
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