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FLNA |
filamin A |
- Platelet degranulation
- GP1b-IX-V activation signalling
- Cell-extracellular matrix interactions
- RHO GTPases activate PAKs
- OAS antiviral response
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- FG syndrome (FGS); Opitz-Kaveggia syndrome
- Periventricular nodular heterotopia (PVNH)
- Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS)
- Fronto-Otopalatodigital Osteodysplasia, including: Otopalatodigital syndrome, type I; Otopalatodigital syndrome, type II; Melnick-Needles syndrome; Frontometaphyseal dysplasia
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FLNC |
filamin C |
- Cell-extracellular matrix interactions
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- Myofibrillar myopathies (MFM), including: Desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Myotilinopathy (MFM3); Zaspopathy (MFM4); Filaminopathy (MFM5); Bag3opathy
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ITM2C |
integral membrane protein 2C |
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LRP1 |
LDL receptor related protein 1 |
- Scavenging of heme from plasma
- Retinoid metabolism and transport
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- Antihemophilic factor, human recombinant
- Tenecteplase
- Coagulation Factor IX (Recombinant)
- Lanoteplase
- Von Willebrand factor human
- Coagulation Factor IX Human
- Lonoctocog alfa
- Moroctocog alfa
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MMP14 |
matrix metallopeptidase 14 |
- Collagen degradation
- Collagen degradation
- Degradation of the extracellular matrix
- Degradation of the extracellular matrix
- Activation of Matrix Metalloproteinases
- TGFBR3 PTM regulation
- High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells
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NAGPA |
N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
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NAPA |
NSF attachment protein alpha |
- COPII-mediated vesicle transport
- Golgi Associated Vesicle Biogenesis
- COPI-mediated anterograde transport
- COPI-dependent Golgi-to-ER retrograde traffic
- Intra-Golgi traffic
- Retrograde transport at the Trans-Golgi-Network
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NOTCH1 |
notch receptor 1 |
- Pre-NOTCH Processing in the Endoplasmic Reticulum
- Pre-NOTCH Transcription and Translation
- Pre-NOTCH Transcription and Translation
- Pre-NOTCH Processing in Golgi
- Pre-NOTCH Processing in Golgi
- Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
- NOTCH1 Intracellular Domain Regulates Transcription
- NOTCH1 Intracellular Domain Regulates Transcription
- Activated NOTCH1 Transmits Signal to the Nucleus
- Activated NOTCH1 Transmits Signal to the Nucleus
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling
- Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
- Constitutive Signaling by NOTCH1 HD Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- Notch-HLH transcription pathway
- Defective LFNG causes SCDO3
- RUNX3 regulates NOTCH signaling
- RUNX3 regulates NOTCH signaling
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH4 Intracellular Domain Regulates Transcription
- Formation of paraxial mesoderm
- NFE2L2 regulating tumorigenic genes
- Regulation of NFE2L2 gene expression
- Somitogenesis
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- Bicuspid aortic valve
- Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia)
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PACS1 |
phosphofurin acidic cluster sorting protein 1 |
- Nef mediated downregulation of MHC class I complex cell surface expression
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PDGFA |
platelet derived growth factor subunit A |
- Non-integrin membrane-ECM interactions
- NFE2L2 regulating tumorigenic genes
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- Glioma
- Malignant pleural mesothelioma
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PMCH |
pro-melanin concentrating hormone |
- Peptide ligand-binding receptors
- G alpha (q) signalling events
- G alpha (i) signalling events
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PRB4 |
proline rich protein BstNI subfamily 4 |
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SERPINB8 |
serpin family B member 8 |
- Dissolution of Fibrin Clot
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SORCS1 |
sortilin related VPS10 domain containing receptor 1 |
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SORL1 |
sortilin related receptor 1 |
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TNFSF13 |
TNF superfamily member 13 |
- HuR (ELAVL1) binds and stabilizes mRNA
- TNFs bind their physiological receptors
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VWF |
von Willebrand factor |
- Platelet degranulation
- Intrinsic Pathway of Fibrin Clot Formation
- Integrin cell surface interactions
- Integrin signaling
- GRB2:SOS provides linkage to MAPK signaling for Integrins
- p130Cas linkage to MAPK signaling for integrins
- GP1b-IX-V activation signalling
- MAP2K and MAPK activation
- 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
- Platelet Adhesion to exposed collagen
- Platelet Aggregation (Plug Formation)
- Signaling downstream of RAS mutants
- Signaling by RAF1 mutants
- Defective F8 cleavage by thrombin
- Defective F8 binding to von Willebrand factor
- Enhanced cleavage of VWF variant by ADAMTS13
- Enhanced binding of GP1BA variant to VWF multimer:collagen
- Defective VWF cleavage by ADAMTS13 variant
- Defective VWF binding to collagen type I
- Defective binding of VWF variant to GPIb:IX:V
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- Antihemophilic factor, human recombinant
- Egaptivon pegol
- Caplacizumab
- Simoctocog alfa
- Antihemophilic factor (recombinant), PEGylated
- Susoctocog alfa
- Efmoroctocog alfa
- Lonoctocog alfa
- Moroctocog alfa
- Turoctocog alfa pegol
- Rurioctocog alfa pegol
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- Hemophilia; Hemophilia A (HEMA); Hemophilia B (HEMB); von Willebrand disease (VWD)
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ZP3 |
zona pellucida glycoprotein 3 |
- Interaction With Cumulus Cells And The Zona Pellucida
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ZP4 |
zona pellucida glycoprotein 4 |
- Interaction With Cumulus Cells And The Zona Pellucida
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