{ "uniprot_canonical_ac": "P02462-1", "uniprot_ac": "P02462", "uniprot_id": "CO4A1_HUMAN", "mass": { "chemical_mass": 160611.0, "monoisotopic_mass": 160611.0 }, "refseq": { "ac": "NP_001290039", "name": "collagen alpha-1(IV) chain isoform 2 precursor", "summary": "This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290039" }, "gene_names": [ { "name": "COL4A1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P02462", "id": "P02462" }, { "name": "BSVD; BSVD1; COL4A1s; PADMAL; RATOR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290039", "id": "NP_001290039" }, { "name": "COL4A1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290039", "id": "NP_001290039" } ], "protein_names": [ { "name": "Collagen alpha-1(IV) chain", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P02462" }, { "name": "collagen alpha-1(IV) chain isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290039", "id": "NP_001290039" }, { "name": "collagen of basement membrane, alpha-1 chain; collagen IV, alpha-1 polypeptide; collagen alpha-1(IV) chain; COL4A1 NC1 domain; arresten", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290039", "id": "NP_001290039" } ], "function": [ { "annotation": "Arresten, comprising the C-terminal NC1 domain, inhibits angiogenesis and tumor formation. The C-terminal half is found to possess the anti-angiogenic activity. Specifically inhibits endothelial cell proliferation, migration and tube formation.", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462#function" }, { "database": "PubMed", "id": "18775695", "url": "https://glygen.org/publication/PubMed/18775695" }, { "database": "PubMed", "id": "10811134", "url": "https://glygen.org/publication/PubMed/10811134" } ] }, { "annotation": "This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001290039", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290039" } ] }, { "annotation": "Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen.", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462#function" }, { "database": "UniProtKB", "id": "P02463", "url": "https://www.uniprot.org/uniprot/P02463#function" }, { "database": "UniProtKB", "id": "A0A3B3ISV3", "url": "https://www.uniprot.org/uniprot/A0A3B3ISV3#function" }, { "database": "UniProtKB", "id": "ARBA00003696", "url": "https://www.uniprot.org/uniprot/ARBA00003696#function" } ] } ], "disease": [ { "disease_id": "DOID:0090125", "recommended_name": { "id": "DOID:0090125", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090125", "name": "brain small vessel disease 1", "description": "A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34." }, "synonyms": [ { "id": "DOID:0090125", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090125", "name": "COL4A1-related familial vascular leukoencephalopathy", "description": "" }, { "id": "DOID:0090125", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090125", "name": "brain small vessel disease with Axenfeld-Riegar anomaly", "description": "" }, { "id": "DOID:0090125", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090125", "name": "brain small vessel disease with hemorrhage", "description": "" }, { "id": "DOID:0090125", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090125", "name": "infantile hemiparesis", "description": "" }, { "id": "DOID:0090125", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090125", "name": "leukoencephalopathy with Axenfeld-Riegar anomaly", "description": "" }, { "id": "DOID:0090125", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090125", "name": "COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome", "description": "" }, { "id": "DOID:0090125", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090125", "name": "autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy", "description": "" }, { "id": "DOID:0090125", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090125", "name": "COL4A1-related brain small vessel disease with hemorrhage", "description": "" }, { "id": "DOID:0090125", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090125", "name": "brain small vessel disease with or without ocular anomalies", "description": "" }, { "id": "DOID:0090125", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090125", "name": "BSVD1", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "brain small vessel disease 1 with or without ocular anomalies", "description": "Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene." }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "ADT1P", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "BSVD", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "BSVD1", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "COL4A1 porencephaly", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "COL4A1-related brain small vessel disease with haemorrhage", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "COL4A1-related brain small vessel disease with hemorrhage", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "COL4A1-related familial vascular leukoencephalopathy", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "T1P", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "brain small vessel disease with Axenfeld-Riegar anomaly", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "brain small vessel disease with axenfeld-rieger anomaly", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "brain small vessel disease with haemorrhage", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "brain small vessel disease with hemorrhage", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "brain small vessel disease with or without ocular anomalies", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "hemiplegia, infantile, with porencephaly", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "infantile hemiparesis", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "leukoencephalopathy with axenfeld-rieger anomaly", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "porencephaly 1", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "porencephaly caused by mutation in COL4A1", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "porencephaly type 1", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "POREN1", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "hemiplegia, infantile, with porencephaly porencephaly, type 1", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "porencephaly, type 1, autosomal dominant", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "brain small vessel disease 1 with or without ocular anomalies", "description": "Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene." }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "ADT1P", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "BSVD", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "BSVD1", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "COL4A1 porencephaly", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "COL4A1-related brain small vessel disease with haemorrhage", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "COL4A1-related brain small vessel disease with hemorrhage", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "COL4A1-related familial vascular leukoencephalopathy", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "T1P", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "brain small vessel disease with Axenfeld-Riegar anomaly", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "brain small vessel disease with axenfeld-rieger anomaly", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "brain small vessel disease with haemorrhage", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "brain small vessel disease with hemorrhage", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "brain small vessel disease with or without ocular anomalies", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "hemiplegia, infantile, with porencephaly", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "infantile hemiparesis", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "leukoencephalopathy with axenfeld-rieger anomaly", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "porencephaly 1", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "porencephaly caused by mutation in COL4A1", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "porencephaly type 1", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "POREN1", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "hemiplegia, infantile, with porencephaly porencephaly, type 1", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "porencephaly, type 1, autosomal dominant", "description": "" }, { "id": "MIM:175780", "resource": "MIM", "url": "https://www.omim.org/entry/175780", "name": "Brain small vessel disease 1 with or without ocular anomalies", "description": "Brain small vessel disease 1 with or without ocular anomalies" } ], "evidence": [ { "id": "175780", "database": "MIM", "url": "https://www.omim.org/entry/175780" } ] }, { "disease_id": "DOID:0111547", "recommended_name": { "id": "DOID:0111547", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111547", "name": "retinal arterial tortuosity", "description": "An artery disease characterized by pronounced tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system that has_material_basis_in heterozygous mutation in the COL4A1 gene on chromosome 13q34." }, "synonyms": [ { "id": "DOID:0111547", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111547", "name": "RATOR", "description": "" }, { "id": "DOID:0111547", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111547", "name": "retinal arteriolar tortuosity", "description": "" }, { "id": "DOID:0111547", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111547", "name": "retinal hemorrhage with vascular tortuosity", "description": "" }, { "id": "DOID:0111547", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111547", "name": "tortuosity of retinal arteries", "description": "" }, { "id": "MONDO:0008373", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008373", "name": "retinal arterial tortuosity", "description": "" }, { "id": "MONDO:0008373", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008373", "name": "retinal arterial tortuosity", "description": "" }, { "id": "MONDO:0008373", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008373", "name": "retinal arterial tortuosity (disease)", "description": "" }, { "id": "MONDO:0008373", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008373", "name": "retinal arteriolar tortuosity", "description": "" }, { "id": "MONDO:0008373", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008373", "name": "retinal haemorrhage with vascular tortuosity", "description": "" }, { "id": "MONDO:0008373", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008373", "name": "retinal hemorrhage with vascular tortuosity", "description": "" }, { "id": "MONDO:0008373", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008373", "name": "tortuosity of retinal arteries", "description": "" }, { "id": "MONDO:0008373", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008373", "name": "RATOR", "description": "" }, { "id": "MONDO:0008373", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008373", "name": "retinal arteries, tortuosity OF", "description": "" }, { "id": "MIM:180000", "resource": "MIM", "url": "https://www.omim.org/entry/180000", "name": "Tortuosity of retinal arteries", "description": "Tortuosity of retinal arteries" } ], "evidence": [ { "id": "180000", "database": "MIM", "url": "https://www.omim.org/entry/180000" } ] }, { "disease_id": "DOID:0112313", "recommended_name": { "id": "DOID:0112313", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112313", "name": "brain small vessel disease", "description": "A brain disease characterized by abnormalities in the small blood vessels in the brain." }, "synonyms": [ { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "brain small vessel disease 1 with or without ocular anomalies", "description": "Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene." }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "ADT1P", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "BSVD", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "BSVD1", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "COL4A1 porencephaly", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "COL4A1-related brain small vessel disease with haemorrhage", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "COL4A1-related brain small vessel disease with hemorrhage", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "COL4A1-related familial vascular leukoencephalopathy", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "T1P", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "brain small vessel disease with Axenfeld-Riegar anomaly", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "brain small vessel disease with axenfeld-rieger anomaly", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "brain small vessel disease with haemorrhage", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "brain small vessel disease with hemorrhage", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "brain small vessel disease with or without ocular anomalies", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "hemiplegia, infantile, with porencephaly", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "infantile hemiparesis", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "leukoencephalopathy with axenfeld-rieger anomaly", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "porencephaly 1", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "porencephaly caused by mutation in COL4A1", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "porencephaly type 1", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "POREN1", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "hemiplegia, infantile, with porencephaly porencephaly, type 1", "description": "" }, { "id": "MONDO:0008289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008289", "name": "porencephaly, type 1, autosomal dominant", "description": "" }, { "id": "MIM:175780", "resource": "MIM", "url": "https://www.omim.org/entry/175780", "name": "Brain small vessel disease 1 with or without ocular anomalies", "description": "Brain small vessel disease 1 with or without ocular anomalies" } ], "evidence": [ { "id": "175780", "database": "MIM", "url": "https://www.omim.org/entry/175780" } ] }, { "disease_id": "MONDO:0010011", "recommended_name": { "id": "MONDO:0010011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010011", "name": "schizencephaly", "description": "Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation." }, "synonyms": [ { "id": "MONDO:0010011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010011", "name": "schizencephaly", "description": "" }, { "id": "MIM:269160", "resource": "MIM", "url": "https://www.omim.org/entry/269160", "name": "Schizencephaly", "description": "Schizencephaly" } ], "evidence": [ { "id": "269160", "database": "MIM", "url": "https://www.omim.org/entry/269160" } ] }, { "disease_id": "MONDO:0012726", "recommended_name": { "id": "MONDO:0012726", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012726", "name": "autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome", "description": "A syndrome characterized by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal hemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures." }, "synonyms": [ { "id": "MONDO:0012726", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012726", "name": "HANAC", "description": "" }, { "id": "MONDO:0012726", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012726", "name": "HANAC syndrome", "description": "" }, { "id": "MONDO:0012726", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012726", "name": "angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps", "description": "" }, { "id": "MONDO:0012726", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012726", "name": "hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome", "description": "" }, { "id": "MONDO:0012726", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012726", "name": "hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome", "description": "" }, { "id": "MIM:611773", "resource": "MIM", "url": "https://www.omim.org/entry/611773", "name": "Hereditary angiopathy with nephropathy aneurysms and muscle cramps", "description": "Hereditary angiopathy with nephropathy aneurysms and muscle cramps" } ], "evidence": [ { "id": "611773", "database": "MIM", "url": "https://www.omim.org/entry/611773" } ] }, { "disease_id": "MONDO:0013792", "recommended_name": { "id": "MONDO:0013792", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013792", "name": "intracerebral hemorrhage", "description": "Bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma." }, "synonyms": [ { "id": "MONDO:0013792", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013792", "name": "stroke, hemorrhagic", "description": "" }, { "id": "MONDO:0013792", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013792", "name": "hemorrhage, intracerebral, susceptibility to", "description": "" }, { "id": "MONDO:0013792", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013792", "name": "ich", "description": "" }, { "id": "MONDO:0013792", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013792", "name": "stroke, hemorrhagic, susceptibility to", "description": "" }, { "id": "MIM:614519", "resource": "MIM", "url": "https://www.omim.org/entry/614519", "name": "Intracerebral hemorrhage", "description": "Intracerebral hemorrhage" } ], "evidence": [ { "id": "614519", "database": "MIM", "url": "https://www.omim.org/entry/614519" } ] }, { "disease_id": "MONDO:0032814", "recommended_name": { "id": "MONDO:0032814", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032814", "name": "microangiopathy and leukoencephalopathy, pontine, autosomal dominant", "description": "" }, "synonyms": [ { "id": "MONDO:0032814", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032814", "name": "MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT", "description": "" }, { "id": "MONDO:0032814", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032814", "name": "PADMAL", "description": "" }, { "id": "MONDO:0032814", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032814", "name": "pontine autosomal dominant microangiopathy with leukoencephalopathy", "description": "" }, { "id": "MONDO:0032814", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032814", "name": "Dementia, Hereditary Multi-Infarct, Swedish Type", "description": "" }, { "id": "MIM:618564", "resource": "MIM", "url": "https://www.omim.org/entry/618564", "name": "Microangiopathy and leukoencephalopathy, pontine, autosomal dominant", "description": "Microangiopathy and leukoencephalopathy, pontine, autosomal dominant" } ], "evidence": [ { "id": "618564", "database": "MIM", "url": "https://www.omim.org/entry/618564" } ] } ], "snv": [ { "evidence": [ { "id": "P02462", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P02462" }, { "id": "rs866175713", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866175713" }, { "id": "rs866175713", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs866175713" }, { "id": "rs866175713", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866175713" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1095, "end_pos": 1095, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->F).", "chr_id": "13", "chr_pos": "110174664", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S1095", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P02462", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P02462" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1229, "end_pos": 1229, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (HAT->NAT).", "chr_id": "13", "chr_pos": "110170604", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H1229", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1165857721", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1165857721" }, { "id": "rs1165857721", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1165857721" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 126, "end_pos": 126, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->SGT).", "chr_id": "13", "chr_pos": "110212427", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N126", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555301346", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555301346" }, { "id": "rs1555301346", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1555301346" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1514, "end_pos": 1514, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFA->NFT).", "chr_id": "13", "chr_pos": "110161292", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1514", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748255404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748255404" }, { "id": "rs748255404", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748255404" }, { "id": "rs748255404", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748255404" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1525, "end_pos": 1525, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "13", "chr_pos": "110161258", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1525", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748255404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748255404" }, { "id": "rs748255404", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748255404" }, { "id": "rs748255404", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748255404" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1525, "end_pos": 1525, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->N).", "chr_id": "13", "chr_pos": "110161258", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1525", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1317452400", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1317452400" }, { "id": "rs1317452400", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1317452400#frequency_tab" }, { "id": "rs1317452400", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1317452400" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1542, "end_pos": 1542, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIR->NIS).", "chr_id": "13", "chr_pos": "110161206", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1542", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P02462", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P02462" } ], "glycoeffect": [], "start_pos": 715, "end_pos": 715, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).", "chr_id": "13", "chr_pos": "110181341", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R715", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P02462", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P02462" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 757, "end_pos": 757, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KGS->NGS).", "chr_id": "13", "chr_pos": "110179344", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K757", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P02462", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P02462" } ], "glycoeffect": [], "start_pos": 758, "end_pos": 758, "subjects_tested": "58", "subjects_positive": "1", "frequency": "1.7", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.7%).", "chr_id": "13", "chr_pos": "110179343", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G758", "disease": [ { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000187498", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187498" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "83.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000187498", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187498" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "97.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000187498", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187498" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "98.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000187498", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187498" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "97.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000187498", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187498" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "91.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000187498", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187498" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "95.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000187498", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187498" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "93.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000187498", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187498" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "94.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000187498", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187498" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "98.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000187498", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187498" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "90.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000187498", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187498" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "92.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000187498", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187498" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "95.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000187498", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187498" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P02462", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02462" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P02462", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02462" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P02462", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02462" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P02462", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02462" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P02462", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02462" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P02462", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02462" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P02462", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02462" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P02462", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02462" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P02462", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02462" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P02462", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02462" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P02462", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02462" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P02462", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02462" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "common_name": "Human" } ], "gene": [ { "name": "COL4A1", "url": "https://www.uniprot.org/uniprot/P02462", "locus": { "chromosome": "13", "start_pos": 163187, "end_pos": 4993, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "LRG_1116", "url": "https://www.ensembl.org/id/LRG_1116" } ] } } ], "crossref": [ { "id": "ENSG00000187498", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187498", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P02462", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P02462", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "CHEMBL2364188", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL2364188", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "COL4A1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL4A1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "1282", "url": "https://www.ncbi.nlm.nih.gov/gene/1282", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "2202", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2202", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P02462", "url": "https://www.ebi.ac.uk/intact/interactors/id:P02462*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001442", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001442", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008160", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008160", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016187", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016187", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036954", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036954", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "120130", "url": "http://www.omim.org/entry/120130", "database": "MIM", "categories": [ "Other" ] }, { "id": "175780", "url": "http://www.omim.org/entry/175780", "database": "MIM", "categories": [ "Other" ] }, { "id": "180000", "url": "http://www.omim.org/entry/180000", "database": "MIM", "categories": [ "Other" ] }, { "id": "269160", "url": "http://www.omim.org/entry/269160", "database": "MIM", "categories": [ "Other" ] }, { "id": "611773", "url": "http://www.omim.org/entry/611773", "database": "MIM", "categories": [ "Other" ] }, { "id": "614519", "url": "http://www.omim.org/entry/614519", "database": "MIM", "categories": [ "Other" ] }, { "id": "618564", "url": "http://www.omim.org/entry/618564", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P02462", "url": "https://www.nextprot.org/entry/NX_P02462", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P02462", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02462", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "MIPPCPQ", "url": "https://omabrowser.org/oma/group/MIPPCPQ/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2882192at2759", "url": "http://www.orthodb.org/?query=2882192at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24023", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24023", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24023:SF1079", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24023:SF1079", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24023:SF1082", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24023:SF1082", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24023:SF1086", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24023:SF1086", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24023:SF854", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24023:SF854", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24023:SF891", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24023:SF891", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24637", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24637", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24637:SF391", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24637:SF391", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1LI1", "url": "https://www.rcsb.org/structure/1LI1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5NAX", "url": "https://www.rcsb.org/structure/5NAX", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5NAY", "url": "https://www.rcsb.org/structure/5NAY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6MPX", "url": "https://www.rcsb.org/structure/6MPX", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF01391", "url": "http://pfam.xfam.org/family/PF01391", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01413", "url": "http://pfam.xfam.org/family/PF01413", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P02462", "url": "https://pharos.nih.gov/targets/P02462", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000052482", "url": "https://proconsortium.org/app/entry/PR:000052482", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000052483", "url": "https://proconsortium.org/app/entry/PR:000052483", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_P02462", "url": "http://purl.obolibrary.org/obo/PR_P02462", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-1474244", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474244", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2022090", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022090", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2214320", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2214320", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2243919", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2243919", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3000157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000157", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3000171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000171", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8948216", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8948216", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001290039", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290039", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P02462", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A0A087WTY5", "url": "https://www.uniprot.org/uniprot/A0A087WTY5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WTY5-1", "url": "https://www.uniprot.org/uniprot/A0A087WTY5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ISH5", "url": "https://www.uniprot.org/uniprot/A0A3B3ISH5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ISH5-1", "url": "https://www.uniprot.org/uniprot/A0A3B3ISH5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ISV3", "url": "https://www.uniprot.org/uniprot/A0A3B3ISV3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ISV3-1", "url": "https://www.uniprot.org/uniprot/A0A3B3ISV3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ISZ8", "url": "https://www.uniprot.org/uniprot/A0A3B3ISZ8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ISZ8-1", "url": "https://www.uniprot.org/uniprot/A0A3B3ISZ8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ITC8", "url": "https://www.uniprot.org/uniprot/A0A3B3ITC8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ITC8-1", "url": "https://www.uniprot.org/uniprot/A0A3B3ITC8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ITG7", "url": "https://www.uniprot.org/uniprot/A0A3B3ITG7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ITG7-1", "url": "https://www.uniprot.org/uniprot/A0A3B3ITG7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ITS9", "url": "https://www.uniprot.org/uniprot/A0A3B3ITS9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ITS9-1", "url": "https://www.uniprot.org/uniprot/A0A3B3ITS9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3IU02", "url": "https://www.uniprot.org/uniprot/A0A3B3IU02", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3IU02-1", "url": "https://www.uniprot.org/uniprot/A0A3B3IU02-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3IUD0", "url": "https://www.uniprot.org/uniprot/A0A3B3IUD0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3IUD0-1", "url": "https://www.uniprot.org/uniprot/A0A3B3IUD0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02462-1", "url": "https://www.uniprot.org/uniprot/P02462-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02462-2", "url": "https://www.uniprot.org/uniprot/P02462-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGPRLSVWLLLLPAALLLHEEHSRAAAKGGCAGSGCGKCDCHGVKGQKGERGLPGLQGVIGFPGMQGPEGPQGPPGQKGDTGEPGLPGTKGTRGPPGASGYPGNPGLPGIPGQDGPPGPPGIPGCNGTKGERGPLGPPGLPGFAGNPGPPGLPGMKGDPGEILGHVPGMLLKGERGFPGIPGTPGPPGLPGLQGPVGPPGFTGPPGPPGPPGPPGEKGQMGLSFQGPKGDKGDQGVSGPPGVPGQAQVQEKGDFATKGEKGQKGEPGFQGMPGVGEKGEPGKPGPRGKPGKDGDKGEKGSPGFPGEPGYPGLIGRQGPQGEKGEAGPPGPPGIVIGTGPLGEKGERGYPGTPGPRGEPGPKGFPGLPGQPGPPGLPVPGQAGAPGFPGERGEKGDRGFPGTSLPGPSGRDGLPGPPGSPGPPGQPGYTNGIVECQPGPPGDQGPPGIPGQPGFIGEIGEKGQKGESCLICDIDGYRGPPGPQGPPGEIGFPGQPGAKGDRGLPGRDGVAGVPGPQGTPGLIGQPGAKGEPGEFYFDLRLKGDKGDPGFPGQPGMPGRAGSPGRDGHPGLPGPKGSPGSVGLKGERGPPGGVGFPGSRGDTGPPGPPGYGPAGPIGDKGQAGFPGGPGSPGLPGPKGEPGKIVPLPGPPGAEGLPGSPGFPGPQGDRGFPGTPGRPGLPGEKGAVGQPGIGFPGPPGPKGVDGLPGDMGPPGTPGRPGFNGLPGNPGVQGQKGEPGVGLPGLKGLPGLPGIPGTPGEKGSIGVPGVPGEHGAIGPPGLQGIRGEPGPPGLPGSVGSPGVPGIGPPGARGPPGGQGPPGLSGPPGIKGEKGFPGFPGLDMPGPKGDKGAQGLPGITGQSGLPGLPGQQGAPGIPGFPGSKGEMGVMGTPGQPGSPGPVGAPGLPGEKGDHGFPGSSGPRGDPGLKGDKGDVGLPGKPGSMDKVDMGSMKGQKGDQGEKGQIGPIGEKGSRGDPGTPGVPGKDGQAGQPGQPGPKGDPGISGTPGAPGLPGPKGSVGGMGLPGTPGEKGVPGIPGPQGSPGLPGDKGAKGEKGQAGPPGIGIPGLRGEKGDQGIAGFPGSPGEKGEKGSIGIPGMPGSPGLKGSPGSVGYPGSPGLPGEKGDKGLPGLDGIPGVKGEAGLPGTPGPTGPAGQKGEPGSDGIPGSAGEKGEPGLPGRGFPGFPGAKGDKGSKGEVGFPGLAGSPGIPGSKGEQGFMGPPGPQGQPGLPGSPGHATEGPKGDRGPQGQPGLPGLPGPMGPPGLPGIDGVKGDKGNPGWPGAPGVPGPKGDPGFQGMPGIGGSPGITGSKGDMGPPGVPGFQGPKGLPGLQGIKGDQGDQGVPGAKGLPGPPGPPGPYDIIKGEPGLPGPEGPPGLKGLQGLPGPKGQQGVTGLVGIPGPPGIPGFDGAPGQKGEMGPAGPTGPRGFPGPPGPDGLPGSMGPPGTPSVDHGFLVTRHSQTIDDPQCPSGTKILYHGYSLLYVQGNERAHGQDLGTAGSCLRKFSTMPFLFCNINNVCNFASRNDYSYWLSTPEPMPMSMAPITGENIRPFISRCAVCEAPAMVMAVHSQTIQIPPCPSGWSSLWIGYSFVMHTSAGAEGSGQALASPGSCLEEFRSAPFIECHGRGTCNYYANAYSFWLATIERSEMFKKPTPSTLKAGELRTHVSRCQVCMRRT", "length": 1669, "header": "sp|P02462-1|CO4A1_HUMAN Isoform 1 of Collagen alpha-1(IV) chain OS=Homo sapiens OX=9606 GN=COL4A1 PE=1 SV=4 CANONICAL=P02462-1" }, "isoforms": [ { "isoform_ac": "A0A087WTY5-1", "url": "", "sequence": { "sequence": "MQGPEGPQGPPGQKGDTGEPGLPGTKGTRGPPGASGYPGNPGLPGIPGQDGPPGPPGIPGCNGTKGERGPLGPPGLPGFAGNPGPPGLPGMKGDPGEILGHVPGMLLKGERGFPGIPGTPGPPGLPGLQGPVGPPGFTGPPGPPGPPGPPGEKGQMGLSFQGPKGDKGDQGVSGPPGVPGQAQVQEKGDFATKGEKGQKGEPGFQGMPGVGEKGEPGKPGPRGKPGKDGDKGEKGS", "length": 236, "header": "tr|A0A087WTY5-1|CO4A1_HUMAN Computationally mapped isoform of Collagen alpha-1(IV) chain OS=Homo sapiens OX=9606 GN=COL4A1 PE=1 SV=2 CANONICAL=P02462-1" }, "locus": { "chromosome": "13", "start_pos": 110213967, "end_pos": 110205497, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000615732.2", "url": "https://www.ensembl.org/id/ENST00000615732.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000478222.2", "url": "https://www.ensembl.org/id/ENSP00000478222.2" } ] } }, { "isoform_ac": "A0A3B3ISH5-1", "url": "", "sequence": { "sequence": "XHGVKGQKGERGLPGLQGVIGFPGMQGPEGPQGPPGQKGDTGEPGLPGTKGTRGPPGASGYPGNPGLPGIPGQDGPPGPPGIPGCNGTKGERGPLGPPGLPGFAGNPGPPGLPGMKGDPGEILGHVPGMLLKGERGFPGIPGTPVSIC", "length": 148, "header": "tr|A0A3B3ISH5-1|CO4A1_HUMAN Computationally mapped isoform of Collagen alpha-1(IV) chain OS=Homo sapiens OX=9606 GN=COL4A1 PE=1 SV=1 CANONICAL=P02462-1" }, "locus": { "chromosome": "13", "start_pos": 110242697, "end_pos": 110210116, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000649484.1", "url": "https://www.ensembl.org/id/ENST00000649484.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497355.1", "url": "https://www.ensembl.org/id/ENSP00000497355.1" } ] } }, { "isoform_ac": "A0A3B3ISV3-1", "url": "", "sequence": { "sequence": "XKGDPGFQGMPGIGGSPGITGSKGDMGPPGVPGFQGPKGLPGLQGIKGDQGDQGVPGAKGLPGPPGPPGPYDIIKGEPGLPGPEGPPGLKGLQGLPGPKGQQGVTGLVGIPGPPGIPGFDGAPGQKGEMGPAGPTGPRGFPGPPGPDGLPGSMGPPGTPSVDHGFLVTRHSQTIDDPQCPSGTKILYHGYSLLYVQGNERAHGQDLGTAGSCLRKFSTMPFLFCNINNVCNFASRNDYSYWLSTPEPMPMSMAPITGENIRPFISRCAVCEAPAMVMAVHSQTIQIPPCPSGWSSLWIGYSFVMHTSAGAEGSGQALASPGSCLEEFRSAPFIECHGRGTCNYYANAYSFWLATIERSEMKPTPSTLKAGELRTHVSRCQVCMRRT", "length": 386, "header": "tr|A0A3B3ISV3-1|CO4A1_HUMAN Computationally mapped isoform of Collagen alpha-1(IV) chain OS=Homo sapiens OX=9606 GN=COL4A1 PE=1 SV=1 CANONICAL=P02462-1" }, "locus": { "chromosome": "13", "start_pos": 110169660, "end_pos": 110150365, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000650424.1", "url": "https://www.ensembl.org/id/ENST00000650424.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497477.1", "url": "https://www.ensembl.org/id/ENSP00000497477.1" } ] } }, { "isoform_ac": "A0A3B3ISZ8-1", "url": "", "sequence": { "sequence": "XHGVKGQKGERGLPGLQGVIGFPGMQGPEGPQGPPGQKGDTGEPGLPGTKGTRGPPGASGYPGNPGLPGIPGQDGPPGPPGIPGCNGTKGERGPLGPPGLPGFAGNPGPPGLPGMKGDPGEILGHVPGMLLKGERGFPGIPGTPGPPGLPGLQGPVGPPGFTGPPVSFGGCLSEAII", "length": 177, "header": "tr|A0A3B3ISZ8-1|CO4A1_HUMAN Computationally mapped isoform of Collagen alpha-1(IV) chain OS=Homo sapiens OX=9606 GN=COL4A1 PE=1 SV=1 CANONICAL=P02462-1" }, "locus": { "chromosome": "13", "start_pos": 110242697, "end_pos": 110209943, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000648966.1", "url": "https://www.ensembl.org/id/ENST00000648966.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497533.1", "url": "https://www.ensembl.org/id/ENSP00000497533.1" } ] } }, { "isoform_ac": "A0A3B3ITC8-1", "url": "", "sequence": { "sequence": "XHGVKGQKVSCRNLNHNISL", "length": 20, "header": "tr|A0A3B3ITC8-1|CO4A1_HUMAN Computationally mapped isoform of Collagen alpha-1(IV) chain OS=Homo sapiens OX=9606 GN=COL4A1 PE=1 SV=1 CANONICAL=P02462-1" }, "locus": { "chromosome": "13", "start_pos": 110242697, "end_pos": 110242638, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000648695.1", "url": "https://www.ensembl.org/id/ENST00000648695.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497713.1", "url": "https://www.ensembl.org/id/ENSP00000497713.1" } ] } }, { "isoform_ac": "A0A3B3ITG7-1", "url": "", "sequence": { "sequence": "XHGVKGQKGERGLPGLQGVIGFPGMQGPEGPQGPPGQKGDTGEPGLPGTKGTRGPPGASGYPGNPGLPGIPGQDGPPGPPGIPGCNGTKGERGPLGPPGLPGFAGNPGPPGLPGMKGDPGEILGHVPGMLLKGERGFPGIPGTPGPPGLPGLQGPVGPPGFTGPPGPPGPPGPPGEKGQMGLSFQGPKGDKGDQGVSGPPGVPGQAQVQEKGDFATKGEKGQKGEPGFQGMPGVGEKGEPGKPGPRGKPGKDGDKGEKGSPGFPGEPGYPGLIGRQGPQGEKGEAGPPGPPGIVIGTGPLGEKGERGYPGTPGPRGEPGPKGFPGLPGQPGPPGLPVPGQAGAPGFPGERGEKGDRGFPGTSLPGPSGRDGLPGPPGSPGPPGQPGYTSEFPQKWFNVGCKQTPGCRADPGWGL", "length": 414, "header": "tr|A0A3B3ITG7-1|A0A3B3ITG7_HUMAN Computationally mapped isoform of Collagen type IV alpha 1 chain OS=Homo sapiens OX=9606 GN=COL4A1 PE=1 SV=1 CANONICAL=P02462-1" }, "locus": { "chromosome": "13", "start_pos": 110242697, "end_pos": 110198389, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000647797.1", "url": "https://www.ensembl.org/id/ENST00000647797.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497756.1", "url": "https://www.ensembl.org/id/ENSP00000497756.1" } ] } }, { "isoform_ac": "A0A3B3ITS9-1", "url": "", "sequence": { "sequence": "CHGVKGQKISRP", "length": 12, "header": "tr|A0A3B3ITS9-1|CO4A1_HUMAN Computationally mapped isoform of Collagen alpha-1(IV) chain OS=Homo sapiens OX=9606 GN=COL4A1 PE=1 SV=1 CANONICAL=P02462-1" }, "locus": { "chromosome": "13", "start_pos": 110242698, "end_pos": 110237253, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000650115.1", "url": "https://www.ensembl.org/id/ENST00000650115.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498030.1", "url": "https://www.ensembl.org/id/ENSP00000498030.1" } ] } }, { "isoform_ac": "A0A3B3IU02-1", "url": "", "sequence": { "sequence": "CHGVKGQKFLLLQISRP", "length": 17, "header": "tr|A0A3B3IU02-1|CO4A1_HUMAN Computationally mapped isoform of Collagen alpha-1(IV) chain OS=Homo sapiens OX=9606 GN=COL4A1 PE=1 SV=1 CANONICAL=P02462-1" }, "locus": { "chromosome": "13", "start_pos": 110242698, "end_pos": 110237253, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000650566.1", "url": "https://www.ensembl.org/id/ENST00000650566.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498007.1", "url": "https://www.ensembl.org/id/ENSP00000498007.1" } ] } }, { "isoform_ac": "A0A3B3IUD0-1", "url": "", "sequence": { "sequence": "XGVKGQKDVEQHPSLYTSDARSTPTPAVVT", "length": 30, "header": "tr|A0A3B3IUD0-1|A0A3B3IUD0_HUMAN Computationally mapped isoform of Collagen type IV alpha 1 chain OS=Homo sapiens OX=9606 GN=COL4A1 PE=4 SV=1 CANONICAL=P02462-1" }, "locus": { "chromosome": "13", "start_pos": 110242694, "end_pos": 110237431, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000648989.1", "url": "https://www.ensembl.org/id/ENST00000648989.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498187.1", "url": "https://www.ensembl.org/id/ENSP00000498187.1" } ] } }, { "isoform_ac": "P02462-1", "url": "", "sequence": { "sequence": "MGPRLSVWLLLLPAALLLHEEHSRAAAKGGCAGSGCGKCDCHGVKGQKGERGLPGLQGVIGFPGMQGPEGPQGPPGQKGDTGEPGLPGTKGTRGPPGASGYPGNPGLPGIPGQDGPPGPPGIPGCNGTKGERGPLGPPGLPGFAGNPGPPGLPGMKGDPGEILGHVPGMLLKGERGFPGIPGTPGPPGLPGLQGPVGPPGFTGPPGPPGPPGPPGEKGQMGLSFQGPKGDKGDQGVSGPPGVPGQAQVQEKGDFATKGEKGQKGEPGFQGMPGVGEKGEPGKPGPRGKPGKDGDKGEKGSPGFPGEPGYPGLIGRQGPQGEKGEAGPPGPPGIVIGTGPLGEKGERGYPGTPGPRGEPGPKGFPGLPGQPGPPGLPVPGQAGAPGFPGERGEKGDRGFPGTSLPGPSGRDGLPGPPGSPGPPGQPGYTNGIVECQPGPPGDQGPPGIPGQPGFIGEIGEKGQKGESCLICDIDGYRGPPGPQGPPGEIGFPGQPGAKGDRGLPGRDGVAGVPGPQGTPGLIGQPGAKGEPGEFYFDLRLKGDKGDPGFPGQPGMPGRAGSPGRDGHPGLPGPKGSPGSVGLKGERGPPGGVGFPGSRGDTGPPGPPGYGPAGPIGDKGQAGFPGGPGSPGLPGPKGEPGKIVPLPGPPGAEGLPGSPGFPGPQGDRGFPGTPGRPGLPGEKGAVGQPGIGFPGPPGPKGVDGLPGDMGPPGTPGRPGFNGLPGNPGVQGQKGEPGVGLPGLKGLPGLPGIPGTPGEKGSIGVPGVPGEHGAIGPPGLQGIRGEPGPPGLPGSVGSPGVPGIGPPGARGPPGGQGPPGLSGPPGIKGEKGFPGFPGLDMPGPKGDKGAQGLPGITGQSGLPGLPGQQGAPGIPGFPGSKGEMGVMGTPGQPGSPGPVGAPGLPGEKGDHGFPGSSGPRGDPGLKGDKGDVGLPGKPGSMDKVDMGSMKGQKGDQGEKGQIGPIGEKGSRGDPGTPGVPGKDGQAGQPGQPGPKGDPGISGTPGAPGLPGPKGSVGGMGLPGTPGEKGVPGIPGPQGSPGLPGDKGAKGEKGQAGPPGIGIPGLRGEKGDQGIAGFPGSPGEKGEKGSIGIPGMPGSPGLKGSPGSVGYPGSPGLPGEKGDKGLPGLDGIPGVKGEAGLPGTPGPTGPAGQKGEPGSDGIPGSAGEKGEPGLPGRGFPGFPGAKGDKGSKGEVGFPGLAGSPGIPGSKGEQGFMGPPGPQGQPGLPGSPGHATEGPKGDRGPQGQPGLPGLPGPMGPPGLPGIDGVKGDKGNPGWPGAPGVPGPKGDPGFQGMPGIGGSPGITGSKGDMGPPGVPGFQGPKGLPGLQGIKGDQGDQGVPGAKGLPGPPGPPGPYDIIKGEPGLPGPEGPPGLKGLQGLPGPKGQQGVTGLVGIPGPPGIPGFDGAPGQKGEMGPAGPTGPRGFPGPPGPDGLPGSMGPPGTPSVDHGFLVTRHSQTIDDPQCPSGTKILYHGYSLLYVQGNERAHGQDLGTAGSCLRKFSTMPFLFCNINNVCNFASRNDYSYWLSTPEPMPMSMAPITGENIRPFISRCAVCEAPAMVMAVHSQTIQIPPCPSGWSSLWIGYSFVMHTSAGAEGSGQALASPGSCLEEFRSAPFIECHGRGTCNYYANAYSFWLATIERSEMFKKPTPSTLKAGELRTHVSRCQVCMRRT", "length": 1669, "header": "sp|P02462-1|CO4A1_HUMAN Isoform 1 of Collagen alpha-1(IV) chain OS=Homo sapiens OX=9606 GN=COL4A1 PE=1 SV=4 CANONICAL=P02462-1" }, "locus": { "chromosome": "13", "start_pos": 110307027, "end_pos": 110150366, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000375820.10", "url": "https://www.ensembl.org/id/ENST00000375820.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000364979.4", "url": "https://www.ensembl.org/id/ENSP00000364979.4" } ] } }, { "isoform_ac": "P02462-2", "url": "", "sequence": { "sequence": "MGPRLSVWLLLLPAALLLHEEHSRAAAKGGCAGSGCGKCDCHGVKGQKGERGLPGLQGVIGFPGMQGPEGPQGPPGQKGDTGEPGLPGTKGTRGPPGASGYPGNPGLPGIPGQDGPPGPPGIPGCNGTKGERGPLGPPGLPGFAGNPGPPGLPGMKGDPGEILGHVPGMLLKGERGFPGIPGTPGPPGLPGLQGPVGPPGFTGPPGPPGPPGPPGEKGQMGLSFQGPKGDKGDQGVSGPPGVPGQAQVQEKGDFATKGEKGQKGEPGFQGMPGVGEKGEPGKPGPRGKPGKDGDKGEKGSPGFPGEPGYPGLIGRQGPQGEKGEAGPPGPPGIVIGTGPLGEKGERGYPGTPGPRGEPGPKGFPGLPGQPGPPGLPVPGQAGAPGFPGERGEKGDRGFPGTSLPGPSGRDGLPGPPGSPGPPGQPGYTNGIVECQPGPPGDQGPPGIPGQPGFIGEIGEKGQKGESCLICDIDGYRGPPGPQGPPGEIGFPGQPGAKGDRGLPGRDGVAGVPLLFQIHK", "length": 519, "header": "sp|P02462-2|CO4A1_HUMAN Isoform 2 of Collagen alpha-1(IV) chain OS=Homo sapiens OX=9606 GN=COL4A1 PE=1 SV=4 CANONICAL=P02462-1" }, "locus": { "chromosome": "13", "start_pos": 110307027, "end_pos": 110191629, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000543140.6", "url": "https://www.ensembl.org/id/ENST00000543140.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000443348.1", "url": "https://www.ensembl.org/id/ENSP00000443348.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1095, "start_aa": "Ser", "end_pos": 1095, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1095", "evidence": [ { "id": "P02462", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02462" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 126, "start_aa": "Asn", "end_pos": 126, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn126", "evidence": [ { "id": "P02462", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02462#ptm_processing" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1525, "start_aa": "Thr", "end_pos": 1525, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1525", "evidence": [ { "id": "P02462", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1532, "start_aa": "Ser", "end_pos": 1532, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1532", "evidence": [ { "id": "P02462", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_predicted" ], "publication": [ { "title": "Binding of the G domains of laminin alpha1 and alpha2 chains and perlecan to heparin, sulfatides, alpha-dystroglycan and several extracellular matrix proteins.", "journal": "The EMBO journal", "date": "1999", "authors": "Talts JF, Andac Z, Gohring W, Brancaccio A, Timpl R", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "10022829", "url": "https://glygen.org/publication/PubMed/10022829" } ] }, { "title": "Antiangiogenic activity of restin, NC10 domain of human collagen XV: comparison to endostatin.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Ramchandran R, Dhanabal M, Volk R, Waterman MJ, Segal M, Lu H, Knebelmann B, Sukhatme VP", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "10049780", "url": "https://glygen.org/publication/PubMed/10049780" } ] }, { "title": "The integrin alpha9beta1 mediates adhesion to activated endothelial cells and transendothelial neutrophil migration through interaction with vascular cell adhesion molecule-1.", "journal": "The Journal of cell biology", "date": "1999", "authors": "Taooka Y, Chen J, Yednock T, Sheppard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10209034", "url": "https://glygen.org/publication/PubMed/10209034" } ] }, { "title": "Role of the scavenger receptor MARCO in alveolar macrophage binding of unopsonized environmental particles.", "journal": "The Journal of experimental medicine", "date": "1999", "authors": "Palecanda A, Paulauskis J, Al-Mutairi E, Imrich A, Qin G, Suzuki H, Kodama T, Tryggvason K, Koziel H, Kobzik L", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "10224290", "url": "https://glygen.org/publication/PubMed/10224290" } ] }, { "title": "Agrin in Alzheimer's disease: altered solubility and abnormal distribution within microvasculature and brain parenchyma.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Donahue JE, Berzin TM, Rafii MS, Glass DJ, Yancopoulos GD, Fallon JR, Stopa EG", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "10339611", "url": "https://glygen.org/publication/PubMed/10339611" } ] }, { "title": "Alpha 2 beta 1 integrin mediates dermal fibroblast attachment to type VII collagen via a 158-amino-acid segment of the NC1 domain.", "journal": "Experimental cell research", "date": "1999", "authors": "Chen M, O'Toole EA, Li YY, Woodley DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10366422", "url": "https://glygen.org/publication/PubMed/10366422" } ] }, { "title": "The leukocyte integrin alpha D beta 2 binds VCAM-1: evidence for a binding interface between I domain and VCAM-1.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1999", "authors": "Van der Vieren M, Crowe DT, Hoekstra D, Vazeux R, Hoffman PA, Grayson MH, Bochner BS, Gallatin WM, Staunton DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10438935", "url": "https://glygen.org/publication/PubMed/10438935" } ] }, { "title": "Mammalian BMP-1/Tolloid-related metalloproteinases, including novel family member mammalian Tolloid-like 2, have differential enzymatic activities and distributions of expression relevant to patterning and skeletogenesis.", "journal": "Developmental biology", "date": "1999", "authors": "Scott IC, Blitz IL, Pappano WN, Imamura Y, Clark TG, Steiglitz BM, Thomas CL, Maas SA, Takahara K, Cho KW, Greenspan DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "10479448", "url": "https://glygen.org/publication/PubMed/10479448" } ] }, { "title": "Mechanism of action and in vivo role of platelet-derived growth factor.", "journal": "Physiological reviews", "date": "1999", "authors": "Heldin CH, Westermark B", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "10508235", "url": "https://glygen.org/publication/PubMed/10508235" } ] }, { "title": "Characteristics of fibrinogen binding to the domain of CD11c, an alpha subunit of p150,95.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Nham SU", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10543983", "url": "https://glygen.org/publication/PubMed/10543983" } ] }, { "title": "Catalytic activities and substrate specificity of the human membrane type 4 matrix metalloproteinase catalytic domain.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Wang Y, Johnson AR, Ye QZ, Dyer RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "10551873", "url": "https://glygen.org/publication/PubMed/10551873" } ] }, { "title": "The integrin alpha(9)beta(1) binds to a novel recognition sequence (SVVYGLR) in the thrombin-cleaved amino-terminal fragment of osteopontin.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Yokosaki Y, Matsuura N, Sasaki T, Murakami I, Schneider H, Higashiyama S, Saitoh Y, Yamakido M, Taooka Y, Sheppard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10593924", "url": "https://glygen.org/publication/PubMed/10593924" } ] }, { "title": "Growth of collagen fibrils produced by human osteosarcoma cells: high-resolution scanning electron microscopy.", "journal": "Archives of histology and cytology", "date": "1999", "authors": "Hashizume H, Hitomi J, Ushiki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022090", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022090" } ], "reference": [ { "type": "PubMed", "id": "10596943", "url": "https://glygen.org/publication/PubMed/10596943" } ] }, { "title": "Signaling through platelet integrin alpha IIb beta 3: inside-out, outside-in, and sideways.", "journal": "Thrombosis and haemostasis", "date": "1999", "authors": "Shattil SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10605720", "url": "https://glygen.org/publication/PubMed/10605720" } ] }, { "title": "Activation of integrin alpha(V)beta(3) regulates cell adhesion and migration to bone sialoprotein.", "journal": "Experimental cell research", "date": "2000", "authors": "Byzova TV, Kim W, Midura RJ, Plow EF", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10640428", "url": "https://glygen.org/publication/PubMed/10640428" } ] }, { "title": "Molecular characterization of a human scavenger receptor, human MARCO.", "journal": "European journal of biochemistry", "date": "2000", "authors": "Elshourbagy NA, Li X, Terrett J, Vanhorn S, Gross MS, Adamou JE, Anderson KM, Webb CL, Lysko PG", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "10651831", "url": "https://glygen.org/publication/PubMed/10651831" } ] }, { "title": "Agrin binds to beta-amyloid (Abeta), accelerates abeta fibril formation, and is localized to Abeta deposits in Alzheimer's disease brain.", "journal": "Molecular and cellular neurosciences", "date": "2000", "authors": "Cotman SL, Halfter W, Cole GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "10673326", "url": "https://glygen.org/publication/PubMed/10673326" } ] }, { "title": "A regulated interaction between alpha5beta1 integrin and osteopontin.", "journal": "Biochemical and biophysical research communications", "date": "2000", "authors": "Barry ST, Ludbrook SB, Murrison E, Horgan CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10673366", "url": "https://glygen.org/publication/PubMed/10673366" } ] }, { "title": "Selective adhesion of macrophages to denatured forms of type I collagen is mediated by scavenger receptors.", "journal": "Matrix biology : journal of the International Society for Matrix Biology", "date": "2000", "authors": "Gowen BB, Borg TK, Ghaffar A, Mayer EP", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "10686426", "url": "https://glygen.org/publication/PubMed/10686426" } ] }, { "title": "Distinct recognition of collagen subtypes by alpha(1)beta(1) and alpha(2)beta(1) integrins. Alpha(1)beta(1) mediates cell adhesion to type XIII collagen.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Nykvist P, Tu H, Ivaska J, Kapyla J, Pihlajaniemi T, Heino J", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10713152", "url": "https://glygen.org/publication/PubMed/10713152" } ] }, { "title": "Macrophage class A scavenger receptor-mediated phagocytosis of Escherichia coli: role of cell heterogeneity, microbial strain, and culture conditions in vitro.", "journal": "Infection and immunity", "date": "2000", "authors": "Peiser L, Gough PJ, Kodama T, Gordon S", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "10722588", "url": "https://glygen.org/publication/PubMed/10722588" } ] }, { "title": "Biochemical characterization of the catalytic domain of human matrix metalloproteinase 19. Evidence for a role as a potent basement membrane degrading enzyme.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Stracke JO, Hutton M, Stewart M, Pendas AM, Smith B, Lopez-Otin C, Murphy G, Knauper V", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "10809722", "url": "https://glygen.org/publication/PubMed/10809722" } ] }, { "title": "Anti-angiogenic cues from vascular basement membrane collagen.", "journal": "Cancer research", "date": "2000", "authors": "Colorado PC, Torre A, Kamphaus G, Maeshima Y, Hopfer H, Takahashi K, Volk R, Zamborsky ED, Herman S, Sarkar PK, Ericksen MB, Dhanabal M, Simons M, Post M, Kufe DW, Weichselbaum RR, Sukhatme VP, Kalluri R", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "10811134", "url": "https://glygen.org/publication/PubMed/10811134" } ] }, { "title": "Lysyl hydroxylase 3 is a multifunctional protein possessing collagen glucosyltransferase activity.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Heikkinen J, Risteli M, Wang C, Latvala J, Rossi M, Valtavaara M, Myllyla R", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "10934207", "url": "https://glygen.org/publication/PubMed/10934207" } ] }, { "title": "Endostatins derived from collagens XV and XVIII differ in structural and binding properties, tissue distribution and anti-angiogenic activity.", "journal": "Journal of molecular biology", "date": "2000", "authors": "Sasaki T, Larsson H, Tisi D, Claesson-Welsh L, Hohenester E, Timpl R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022090", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022090" } ], "reference": [ { "type": "PubMed", "id": "10966814", "url": "https://glygen.org/publication/PubMed/10966814" } ] }, { "title": "Cell contact-dependent activation of alpha3beta1 integrin modulates endothelial cell responses to thrombospondin-1.", "journal": "Molecular biology of the cell", "date": "2000", "authors": "Chandrasekaran L, He CZ, Al-Barazi H, Krutzsch HC, Iruela-Arispe ML, Roberts DD", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10982388", "url": "https://glygen.org/publication/PubMed/10982388" } ] }, { "title": "A short sequence in the N-terminal region is required for the trimerization of type XIII collagen and is conserved in other collagenous transmembrane proteins.", "journal": "The EMBO journal", "date": "2000", "authors": "Snellman A, Tu H, Vaisanen T, Kvist AP, Huhtala P, Pihlajaniemi T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "11013208", "url": "https://glygen.org/publication/PubMed/11013208" } ] }, { "title": "Integrins as receptors for laminins.", "journal": "Microscopy research and technique", "date": "2000", "authors": "Belkin AM, Stepp MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000157" } ], "reference": [ { "type": "PubMed", "id": "11054877", "url": "https://glygen.org/publication/PubMed/11054877" } ] }, { "title": "Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Thur J, Rosenberg K, Nitsche DP, Pihlajamaa T, Ala-Kokko L, Heinegard D, Paulsson M, Maurer P", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "11084047", "url": "https://glygen.org/publication/PubMed/11084047" } ] }, { "title": "Generation and degradation of human endostatin proteins by various proteinases.", "journal": "FEBS letters", "date": "2000", "authors": "Ferreras M, Felbor U, Lenhard T, Olsen BR, Delaisse J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "11119712", "url": "https://glygen.org/publication/PubMed/11119712" } ] }, { "title": "Interaction of endostatin with integrins implicated in angiogenesis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Rehn M, Veikkola T, Kukk-Valdre E, Nakamura H, Ilmonen M, Lombardo C, Pihlajaniemi T, Alitalo K, Vuori K", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "11158588", "url": "https://glygen.org/publication/PubMed/11158588" } ] }, { "title": "Biglycan and decorin bind close to the n-terminal region of the collagen VI triple helix.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Wiberg C, Hedbom E, Khairullina A, Lamande SR, Oldberg A, Timpl R, Morgelin M, Heinegard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "11259413", "url": "https://glygen.org/publication/PubMed/11259413" } ] }, { "title": "Multiple bone morphogenetic protein 1-related mammalian metalloproteinases process pro-lysyl oxidase at the correct physiological site and control lysyl oxidase activation in mouse embryo fibroblast cultures.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Uzel MI, Scott IC, Babakhanlou-Chase H, Palamakumbura AH, Pappano WN, Hong HH, Greenspan DS, Trackman PC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2243919", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2243919" } ], "reference": [ { "type": "PubMed", "id": "11313359", "url": "https://glygen.org/publication/PubMed/11313359" } ] }, { "title": "alpha11beta1 integrin is a receptor for interstitial collagens involved in cell migration and collagen reorganization on mesenchymal nonmuscle cells.", "journal": "Developmental biology", "date": "2001", "authors": "Tiger CF, Fougerousse F, Grundstrom G, Velling T, Gullberg D", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "11518510", "url": "https://glygen.org/publication/PubMed/11518510" } ] }, { "title": "The membrane-type collectin CL-P1 is a scavenger receptor on vascular endothelial cells.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Ohtani K, Suzuki Y, Eda S, Kawai T, Kase T, Keshi H, Sakai Y, Fukuoh A, Sakamoto T, Itabe H, Suzutani T, Ogasawara M, Yoshida I, Wakamiya N", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "11564734", "url": "https://glygen.org/publication/PubMed/11564734" } ] }, { "title": "Selective binding of collagen subtypes by integrin alpha 1I, alpha 2I, and alpha 10I domains.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Tulla M, Pentikainen OT, Viitasalo T, Kapyla J, Impola U, Nykvist P, Nissinen L, Johnson MS, Heino J", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "11572855", "url": "https://glygen.org/publication/PubMed/11572855" } ] }, { "title": "Calprotectin inhibits matrix metalloproteinases by sequestration of zinc.", "journal": "Molecular pathology : MP", "date": "2001", "authors": "Isaksen B, Fagerhol MK", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "11577169", "url": "https://glygen.org/publication/PubMed/11577169" } ] }, { "title": "Distinct glycoprotein Ib/V/IX and integrin alpha IIbbeta 3-dependent calcium signals cooperatively regulate platelet adhesion under flow.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Nesbitt WS, Kulkarni S, Giuliano S, Goncalves I, Dopheide SM, Yap CL, Harper IS, Salem HH, Jackson SP", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "11713259", "url": "https://glygen.org/publication/PubMed/11713259" } ] }, { "title": "Arginine residues in domain V have a central role for bacteria-binding activity of macrophage scavenger receptor MARCO.", "journal": "Biochemical and biophysical research communications", "date": "2002", "authors": "Brannstrom A, Sankala M, Tryggvason K, Pikkarainen T", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "11820786", "url": "https://glygen.org/publication/PubMed/11820786" } ] }, { "title": "Not all perlecans are created equal: interactions with fibroblast growth factor (FGF) 2 and FGF receptors.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Knox S, Merry C, Stringer S, Melrose J, Whitelock J", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000171" } ], "reference": [ { "type": "PubMed", "id": "11847221", "url": "https://glygen.org/publication/PubMed/11847221" } ] }, { "title": "CLAC: a novel Alzheimer amyloid plaque component derived from a transmembrane precursor, CLAC-P/collagen type XXV.", "journal": "The EMBO journal", "date": "2002", "authors": "Hashimoto T, Wakabayashi T, Watanabe A, Kowa H, Hosoda R, Nakamura A, Kanazawa I, Arai T, Takio K, Mann DM, Iwatsubo T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "11927537", "url": "https://glygen.org/publication/PubMed/11927537" } ] }, { "title": "Regulation of melanoma cell migration and invasion by laminin-5 and alpha3beta1 integrin (VLA-3).", "journal": "Clinical & experimental metastasis", "date": "2002", "authors": "Tsuji T, Kawada Y, Kai-Murozono M, Komatsu S, Han SA, Takeuchi K, Mizushima H, Miyazaki K, Irimura T", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000157" } ], "reference": [ { "type": "PubMed", "id": "11964076", "url": "https://glygen.org/publication/PubMed/11964076" } ] }, { "title": "Interactions of thrombospondins with alpha4beta1 integrin and CD47 differentially modulate T cell behavior.", "journal": "The Journal of cell biology", "date": "2002", "authors": "Li Z, Calzada MJ, Sipes JM, Cashel JA, Krutzsch HC, Annis DS, Mosher DF, Roberts DD", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "11980922", "url": "https://glygen.org/publication/PubMed/11980922" } ] }, { "title": "Proteinases of the bone morphogenetic protein-1 family convert procollagen VII to mature anchoring fibril collagen.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Rattenholl A, Pappano WN, Koch M, Keene DR, Kadler KE, Sasaki T, Timpl R, Burgeson RE, Greenspan DS, Bruckner-Tuderman L", "evidence": [ { "database": "Reactome", "id": "R-HSA-2214320", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2214320" } ], "reference": [ { "type": "PubMed", "id": "11986329", "url": "https://glygen.org/publication/PubMed/11986329" } ] }, { "title": "The 1.9-A crystal structure of the noncollagenous (NC1) domain of human placenta collagen IV shows stabilization via a novel type of covalent Met-Lys cross-link.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Than ME, Henrich S, Huber R, Ries A, Mann K, Kuhn K, Timpl R, Bourenkov GP, Bartunik HD, Bode W", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "12011424", "url": "https://glygen.org/publication/PubMed/12011424" } ] }, { "title": "Mechanical properties of adult vertebral cancellous bone: correlation with collagen intermolecular cross-links.", "journal": "Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research", "date": "2002", "authors": "Banse X, Sims TJ, Bailey AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2243919", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2243919" } ], "reference": [ { "type": "PubMed", "id": "12211432", "url": "https://glygen.org/publication/PubMed/12211432" } ] }, { "title": "Matrix-matrix interaction of cartilage oligomeric matrix protein and fibronectin.", "journal": "Matrix biology : journal of the International Society for Matrix Biology", "date": "2002", "authors": "Di Cesare PE, Chen FS, Moergelin M, Carlson CS, Leslie MP, Perris R, Fang C", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "12225811", "url": "https://glygen.org/publication/PubMed/12225811" } ] }, { "title": "Laminin modulates morphogenic properties of the collagen XVIII endostatin domain.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Javaherian K, Park SY, Pickl WF, LaMontagne KR, Sjin RT, Gillies S, Lo KM", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000157" } ], "reference": [ { "type": "PubMed", "id": "12237301", "url": "https://glygen.org/publication/PubMed/12237301" } ] }, { "title": "BAY 43-9006: preclinical data.", "journal": "Current pharmaceutical design", "date": "2002", "authors": "Wilhelm S, Chien DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "12369853", "url": "https://glygen.org/publication/PubMed/12369853" } ] }, { "title": "The chemistry of the collagen cross-links. The mechanism of stabilization of the reducible intermediate cross-links.", "journal": "The Biochemical journal", "date": "1975", "authors": "Robins SP, Bailey AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2243919", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2243919" } ], "reference": [ { "type": "PubMed", "id": "1237296", "url": "https://glygen.org/publication/PubMed/1237296" } ] }, { "title": "Structural basis of type VI collagen dimer formation.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Ball S, Bella J, Kielty C, Shuttleworth A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "12473679", "url": "https://glygen.org/publication/PubMed/12473679" } ] }, { "title": "The third activity for lysyl hydroxylase 3: galactosylation of hydroxylysyl residues in collagens in vitro.", "journal": "Matrix biology : journal of the International Society for Matrix Biology", "date": "2002", "authors": "Wang C, Luosujarvi H, Heikkinen J, Risteli M, Uitto L, Myllyla R", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "12475640", "url": "https://glygen.org/publication/PubMed/12475640" } ] }, { "title": "Analysis of the interactions between BP180, BP230, plectin and the integrin alpha6beta4 important for hemidesmosome assembly.", "journal": "Journal of cell science", "date": "2003", "authors": "Koster J, Geerts D, Favre B, Borradori L, Sonnenberg A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022090", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022090" } ], "reference": [ { "type": "PubMed", "id": "12482924", "url": "https://glygen.org/publication/PubMed/12482924" } ] }, { "title": "The class A scavenger receptor binds to proteoglycans and mediates adhesion of macrophages to the extracellular matrix.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Santiago-Garcia J, Kodama T, Pitas RE", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "12488451", "url": "https://glygen.org/publication/PubMed/12488451" } ] }, { "title": "alpha 11beta 1 integrin recognizes the GFOGER sequence in interstitial collagens.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Zhang WM, Kapyla J, Puranen JS, Knight CG, Tiger CF, Pentikainen OT, Johnson MS, Farndale RW, Heino J, Gullberg D", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "12496264", "url": "https://glygen.org/publication/PubMed/12496264" } ] }, { "title": "In vivo antitumor activity of SU11248, a novel tyrosine kinase inhibitor targeting vascular endothelial growth factor and platelet-derived growth factor receptors: determination of a pharmacokinetic/pharmacodynamic relationship.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2003", "authors": "Mendel DB, Laird AD, Xin X, Louie SG, Christensen JG, Li G, Schreck RE, Abrams TJ, Ngai TJ, Lee LB, Murray LJ, Carver J, Chan E, Moss KG, Haznedar JO, Sukbuntherng J, Blake RA, Sun L, Tang C, Miller T, Shirazian S, McMahon G, Cherrington JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "12538485", "url": "https://glygen.org/publication/PubMed/12538485" } ] }, { "title": "Loss of types XV and XIX collagen precedes basement membrane invasion in ductal carcinoma of the female breast.", "journal": "The Journal of pathology", "date": "2003", "authors": "Amenta PS, Hadad S, Lee MT, Barnard N, Li D, Myers JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "12579531", "url": "https://glygen.org/publication/PubMed/12579531" } ] }, { "title": "Bidirectional integrin alphaIIbbeta3 signalling regulating platelet adhesion under flow: contribution of protein kinase C.", "journal": "The Biochemical journal", "date": "2003", "authors": "Giuliano S, Nesbitt WS, Rooney M, Jackson SP", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "12585966", "url": "https://glygen.org/publication/PubMed/12585966" } ] }, { "title": "Transforming growth factor-beta induces secretion of activated ADAMTS-2. A procollagen III N-proteinase.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Wang WM, Lee S, Steiglitz BM, Scott IC, Lebares CC, Allen ML, Brenner MC, Takahara K, Greenspan DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "12646579", "url": "https://glygen.org/publication/PubMed/12646579" } ] }, { "title": "Human tumstatin and human endostatin exhibit distinct antiangiogenic activities mediated by alpha v beta 3 and alpha 5 beta 1 integrins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Sudhakar A, Sugimoto H, Yang C, Lively J, Zeisberg M, Kalluri R", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "12682293", "url": "https://glygen.org/publication/PubMed/12682293" } ] }, { "title": "SRCL/CL-P1 recognizes GalNAc and a carcinoma-associated antigen, Tn antigen.", "journal": "Journal of biochemistry", "date": "2003", "authors": "Yoshida T, Tsuruta Y, Iwasaki M, Yamane S, Ochi T, Suzuki R", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "12761161", "url": "https://glygen.org/publication/PubMed/12761161" } ] }, { "title": "Oxidative stress impairs endocytosis of the scavenger receptor class A.", "journal": "Biochemical and biophysical research communications", "date": "2003", "authors": "Aguilar-Gaytan R, Mas-Oliva J", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "12763022", "url": "https://glygen.org/publication/PubMed/12763022" } ] }, { "title": "Polysialyltransferases: major players in polysialic acid synthesis on the neural cell adhesion molecule.", "journal": "Biochimie", "date": "2003", "authors": "Angata K, Fukuda M", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "12765789", "url": "https://glygen.org/publication/PubMed/12765789" } ] }, { "title": "Cell adhesion to fibrillin-1 molecules and microfibrils is mediated by alpha 5 beta 1 and alpha v beta 3 integrins.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Bax DV, Bernard SE, Lomas A, Morgan A, Humphries J, Shuttleworth CA, Humphries MJ, Kielty CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "12807887", "url": "https://glygen.org/publication/PubMed/12807887" } ] }, { "title": "Identification of uteroglobin-related protein 1 and macrophage scavenger receptor with collagenous structure as a lung-specific ligand-receptor pair.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2003", "authors": "Bin LH, Nielson LD, Liu X, Mason RJ, Shu HB", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "12847263", "url": "https://glygen.org/publication/PubMed/12847263" } ] }, { "title": "The extracellular glycoprotein SPARC interacts with platelet-derived growth factor (PDGF)-AB and -BB and inhibits the binding of PDGF to its receptors.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1992", "authors": "Raines EW, Lane TF, Iruela-Arispe ML, Ross R, Sage EH", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "1311092", "url": "https://glygen.org/publication/PubMed/1311092" } ] }, { "title": "Characterization of the human prolyl 4-hydroxylase tetramer and its multifunctional protein disulfide-isomerase subunit synthesized in a baculovirus expression system.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1992", "authors": "Vuori K, Pihlajaniemi T, Marttila M, Kivirikko KI", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "1323838", "url": "https://glygen.org/publication/PubMed/1323838" } ] }, { "title": "Molecular flypaper, atherosclerosis, and host defense: structure and function of the macrophage scavenger receptor.", "journal": "Cold Spring Harbor symposia on quantitative biology", "date": "1992", "authors": "Krieger M, Abrams JM, Lux A, Steller H", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "1339697", "url": "https://glygen.org/publication/PubMed/1339697" } ] }, { "title": "Enzymatic and nonenzymatic cross-linking of collagen and elastin.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "1992", "authors": "Reiser K, McCormick RJ, Rucker RB", "evidence": [ { "database": "Reactome", "id": "R-HSA-2243919", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2243919" } ], "reference": [ { "type": "PubMed", "id": "1348714", "url": "https://glygen.org/publication/PubMed/1348714" } ] }, { "title": "Mapping of binding sites for heparin, plasminogen activator inhibitor-1, and plasminogen to vitronectin's heparin-binding region reveals a novel vitronectin-dependent feedback mechanism for the control of plasmin formation.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Kost C, Stuber W, Ehrlich HJ, Pannekoek H, Preissner KT", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "1376317", "url": "https://glygen.org/publication/PubMed/1376317" } ] }, { "title": "Characterization of collagen types XII and XIV from fetal bovine cartilage.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Watt SL, Lunstrum GP, McDonough AM, Keene DR, Burgeson RE, Morris NP", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022090", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022090" } ], "reference": [ { "type": "PubMed", "id": "1400327", "url": "https://glygen.org/publication/PubMed/1400327" } ] }, { "title": "Identification and characterization of a third human, rat, and mouse collagen prolyl 4-hydroxylase isoenzyme.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Kukkola L, Hieta R, Kivirikko KI, Myllyharju J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "14500733", "url": "https://glygen.org/publication/PubMed/14500733" } ] }, { "title": "Covalent cross-linking of the NC1 domain of collagen type IX to collagen type II in cartilage.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Eyre DR, Pietka T, Weis MA, Wu JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022090", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022090" } ], "reference": [ { "type": "PubMed", "id": "14602708", "url": "https://glygen.org/publication/PubMed/14602708" } ] }, { "title": "Scavenger receptor-A mediates gp96/GRP94 and calreticulin internalization by antigen-presenting cells.", "journal": "The EMBO journal", "date": "2003", "authors": "Berwin B, Hart JP, Rice S, Gass C, Pizzo SV, Post SR, Nicchitta CV", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "14609958", "url": "https://glygen.org/publication/PubMed/14609958" } ] }, { "title": "Neurite outgrowth by the alternatively spliced region of human tenascin-C is mediated by neuronal alpha7beta1 integrin.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2004", "authors": "Mercado ML, Nur-e-Kamal A, Liu HY, Gross SR, Movahed R, Meiners S", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "14715956", "url": "https://glygen.org/publication/PubMed/14715956" } ] }, { "title": "Isolation of hydroxylysyl pyridinoline, a mature collagen crosslink from neonatal rat aorta smooth muscle cell cultures.", "journal": "Matrix (Stuttgart, Germany)", "date": "1992", "authors": "Stone PJ, Bryan-Rhadfi J, Shaw HA, Franzblau C", "evidence": [ { "database": "Reactome", "id": "R-HSA-2243919", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2243919" } ], "reference": [ { "type": "PubMed", "id": "1484505", "url": "https://glygen.org/publication/PubMed/1484505" } ] }, { "title": "The shed ectodomain of type XIII collagen affects cell behaviour in a matrix-dependent manner.", "journal": "The Biochemical journal", "date": "2004", "authors": "Vaisanen MR, Vaisanen T, Pihlajaniemi T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "15005656", "url": "https://glygen.org/publication/PubMed/15005656" } ] }, { "title": "Prolyl 3-hydroxylase 1, enzyme characterization and identification of a novel family of enzymes.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Vranka JA, Sakai LY, Bachinger HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "15044469", "url": "https://glygen.org/publication/PubMed/15044469" } ] }, { "title": "Interactions between the cartilage oligomeric matrix protein and matrilins. Implications for matrix assembly and the pathogenesis of chondrodysplasias.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Mann HH, Ozbek S, Engel J, Paulsson M, Wagener R", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "15075323", "url": "https://glygen.org/publication/PubMed/15075323" } ] }, { "title": "The PDGF family: four gene products form five dimeric isoforms.", "journal": "Cytokine & growth factor reviews", "date": "2004", "authors": "Fredriksson L, Li H, Eriksson U", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "15207811", "url": "https://glygen.org/publication/PubMed/15207811" } ] }, { "title": "Endorepellin causes endothelial cell disassembly of actin cytoskeleton and focal adhesions through alpha2beta1 integrin.", "journal": "The Journal of cell biology", "date": "2004", "authors": "Bix G, Fu J, Gonzalez EM, Macro L, Barker A, Campbell S, Zutter MM, Santoro SA, Kim JK, Hook M, Reed CC, Iozzo RV", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "15240572", "url": "https://glygen.org/publication/PubMed/15240572" } ] }, { "title": "Collagenase unwinds triple-helical collagen prior to peptide bond hydrolysis.", "journal": "The EMBO journal", "date": "2004", "authors": "Chung L, Dinakarpandian D, Yoshida N, Lauer-Fields JL, Fields GB, Visse R, Nagase H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "15257288", "url": "https://glygen.org/publication/PubMed/15257288" } ] }, { "title": "CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin.", "journal": "Blood", "date": "2004", "authors": "Karamatic Crew V, Burton N, Kagan A, Green CA, Levene C, Flinter F, Brady RL, Daniels G, Anstee DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022090", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022090" } ], "reference": [ { "type": "PubMed", "id": "15265795", "url": "https://glygen.org/publication/PubMed/15265795" } ] }, { "title": "Structural basis for interactions between tenascins and lectican C-type lectin domains: evidence for a crosslinking role for tenascins.", "journal": "Structure (London, England : 1993)", "date": "2004", "authors": "Lundell A, Olin AI, Morgelin M, al-Karadaghi S, Aspberg A, Logan DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "15296743", "url": "https://glygen.org/publication/PubMed/15296743" } ] }, { "title": "Functional assessment of alphaEbeta7/E-cadherin interactions in the steady state postnatal thymus.", "journal": "Clinical & developmental immunology", "date": "2004", "authors": "Prockop SE, Petrie HT", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "15330449", "url": "https://glygen.org/publication/PubMed/15330449" } ] }, { "title": "Galectin-3 is induced in rheumatoid arthritis synovial fibroblasts after adhesion to cartilage oligomeric matrix protein.", "journal": "Annals of the rheumatic diseases", "date": "2005", "authors": "Neidhart M, Zaucke F, von Knoch R, Jungel A, Michel BA, Gay RE, Gay S", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "15345499", "url": "https://glygen.org/publication/PubMed/15345499" } ] }, { "title": "The fibril-associated collagen IX provides a novel mechanism for cell adhesion to cartilaginous matrix.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Kapyla J, Jaalinoja J, Tulla M, Ylostalo J, Nissinen L, Viitasalo T, Vehvilainen P, Marjomaki V, Nykvist P, Saamanen AM, Farndale RW, Birk DE, Ala-Kokko L, Heino J", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "15383545", "url": "https://glygen.org/publication/PubMed/15383545" } ] }, { "title": "Binding of the proteoglycan decorin to collagen type VI.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Bidanset DJ, Guidry C, Rosenberg LC, Choi HU, Timpl R, Hook M", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "1544908", "url": "https://glygen.org/publication/PubMed/1544908" } ] }, { "title": "Discovery of N-(2-chloro-6-methyl- phenyl)-2-(6-(4-(2-hydroxyethyl)- piperazin-1-yl)-2-methylpyrimidin-4- ylamino)thiazole-5-carboxamide (BMS-354825), a dual Src/Abl kinase inhibitor with potent antitumor activity in preclinical assays.", "journal": "Journal of medicinal chemistry", "date": "2004", "authors": "Lombardo LJ, Lee FY, Chen P, Norris D, Barrish JC, Behnia K, Castaneda S, Cornelius LA, Das J, Doweyko AM, Fairchild C, Hunt JT, Inigo I, Johnston K, Kamath A, Kan D, Klei H, Marathe P, Pang S, Peterson R, Pitt S, Schieven GL, Schmidt RJ, Tokarski J, Wen ML, Wityak J, Borzilleri RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "15615512", "url": "https://glygen.org/publication/PubMed/15615512" } ] }, { "title": "Identification of the loci of the collagen-associated Ehrlich chromogen in type I collagen confirms its role as a trivalent cross-link.", "journal": "The Biochemical journal", "date": "1992", "authors": "Kuypers R, Tyler M, Kurth LB, Jenkins ID, Horgan DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2243919", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2243919" } ], "reference": [ { "type": "PubMed", "id": "1567360", "url": "https://glygen.org/publication/PubMed/1567360" } ] }, { "title": "Loss of alpha10beta1 integrin expression leads to moderate dysfunction of growth plate chondrocytes.", "journal": "Journal of cell science", "date": "2005", "authors": "Bengtsson T, Aszodi A, Nicolae C, Hunziker EB, Lundgren-Akerlund E, Fassler R", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "15713743", "url": "https://glygen.org/publication/PubMed/15713743" } ] }, { "title": "Targeting the platelet-derived growth factor receptor alpha with a neutralizing human monoclonal antibody inhibits the growth of tumor xenografts: implications as a potential therapeutic target.", "journal": "Molecular cancer therapeutics", "date": "2005", "authors": "Loizos N, Xu Y, Huber J, Liu M, Lu D, Finnerty B, Rolser R, Malikzay A, Persaud A, Corcoran E, Deevi DS, Balderes P, Bassi R, Jimenez X, Joynes CJ, Mangalampalli VR, Steiner P, Tonra JR, Wu Y, Pereira DS, Zhu Z, Ludwig DL, Hicklin DJ, Bohlen P, Witte L, Kussie P", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "15767546", "url": "https://glygen.org/publication/PubMed/15767546" } ] }, { "title": "Cloning of human lysyl hydroxylase: complete cDNA-derived amino acid sequence and assignment of the gene (PLOD) to chromosome 1p36.3----p36.2.", "journal": "Genomics", "date": "1992", "authors": "Hautala T, Byers MG, Eddy RL, Shows TB, Kivirikko KI, Myllyla R", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "1577494", "url": "https://glygen.org/publication/PubMed/1577494" } ] }, { "title": "Collagen fibril form and function.", "journal": "Advances in protein chemistry", "date": "2005", "authors": "Wess TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022090", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022090" } ], "reference": [ { "type": "PubMed", "id": "15837520", "url": "https://glygen.org/publication/PubMed/15837520" } ] }, { "title": "VLA-4-fibronectin interaction is required for the terminal differentiation of human bone marrow cells capable of spontaneous and high rate immunoglobulin secretion.", "journal": "The Journal of experimental medicine", "date": "1992", "authors": "Roldan E, Garcia-Pardo A, Brieva JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "1588291", "url": "https://glygen.org/publication/PubMed/1588291" } ] }, { "title": "Canstatin acts on endothelial and tumor cells via mitochondrial damage initiated through interaction with alphavbeta3 and alphavbeta5 integrins.", "journal": "Cancer research", "date": "2005", "authors": "Magnon C, Galaup A, Mullan B, Rouffiac V, Bouquet C, Bidart JM, Griscelli F, Opolon P, Perricaudet M", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "15899827", "url": "https://glygen.org/publication/PubMed/15899827" } ] }, { "title": "Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.", "journal": "Science (New York, N.Y.)", "date": "2005", "authors": "Gould DB, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC, Aguglia U, van der Knaap MS, Heutink P, John SW", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "15905400", "url": "https://glygen.org/publication/PubMed/15905400" } ] }, { "title": "Generation of biologically active endostatin fragments from human collagen XVIII by distinct matrix metalloproteases.", "journal": "Experimental cell research", "date": "2005", "authors": "Heljasvaara R, Nyberg P, Luostarinen J, Parikka M, Heikkila P, Rehn M, Sorsa T, Salo T, Pihlajaniemi T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "15950618", "url": "https://glygen.org/publication/PubMed/15950618" } ] }, { "title": "Critical role of the fifth domain of E-cadherin for heterophilic adhesion with alpha E beta 7, but not for homophilic adhesion.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2005", "authors": "Shiraishi K, Tsuzaka K, Yoshimoto K, Kumazawa C, Nozaki K, Abe T, Tsubota K, Takeuchi T", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "16002701", "url": "https://glygen.org/publication/PubMed/16002701" } ] }, { "title": "Cartilage oligomeric matrix protein/thrombospondin 5 supports chondrocyte attachment through interaction with integrins.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Chen FH, Thomas AO, Hecht JT, Goldring MB, Lawler J", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "16051604", "url": "https://glygen.org/publication/PubMed/16051604" } ] }, { "title": "Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.", "journal": "Journal of medical genetics", "date": "2006", "authors": "Breedveld G, de Coo IF, Lequin MH, Arts WF, Heutink P, Gould DB, John SW, Oostra B, Mancini GM", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "16107487", "url": "https://glygen.org/publication/PubMed/16107487" } ] }, { "title": "Human alpha1 type IV collagen NC1 domain exhibits distinct antiangiogenic activity mediated by alpha1beta1 integrin.", "journal": "J. Clin. Invest.", "date": "2005", "authors": "Sudhakar A, Nyberg P, Keshamouni VG, Mannam AP, Li J, Sugimoto H, Cosgrove D, Kalluri R", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" }, { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "16151532", "url": "https://glygen.org/publication/PubMed/16151532" } ] }, { "title": "MARCO is the major binding receptor for unopsonized particles and bacteria on human alveolar macrophages.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2005", "authors": "Arredouani MS, Palecanda A, Koziel H, Huang YC, Imrich A, Sulahian TH, Ning YY, Yang Z, Pikkarainen T, Sankala M, Vargas SO, Takeya M, Tryggvason K, Kobzik L", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "16237101", "url": "https://glygen.org/publication/PubMed/16237101" } ] }, { "title": "Integrin alphaDbeta2, an adhesion receptor up-regulated on macrophage foam cells, exhibits multiligand-binding properties.", "journal": "Blood", "date": "2006", "authors": "Yakubenko VP, Yadav SP, Ugarova TP", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "16239428", "url": "https://glygen.org/publication/PubMed/16239428" } ] }, { "title": "Genetic ablation of polysialic acid causes severe neurodevelopmental defects rescued by deletion of the neural cell adhesion molecule.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Weinhold B, Seidenfaden R, Rockle I, Muhlenhoff M, Schertzinger F, Conzelmann S, Marth JD, Gerardy-Schahn R, Hildebrandt H", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "16267048", "url": "https://glygen.org/publication/PubMed/16267048" } ] }, { "title": "Regulation of cell adhesion and type VII collagen binding by the beta3 chain short arm of laminin-5: effect of its proteolytic cleavage.", "journal": "Journal of biochemistry", "date": "2005", "authors": "Nakashima Y, Kariya Y, Yasuda C, Miyazaki K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2214320", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2214320" } ], "reference": [ { "type": "PubMed", "id": "16272566", "url": "https://glygen.org/publication/PubMed/16272566" } ] }, { "title": "Interactions between collagen IX and biglycan measured by atomic force microscopy.", "journal": "Biochemical and biophysical research communications", "date": "2006", "authors": "Chen CH, Yeh ML, Geyer M, Wang GJ, Huang MH, Heggeness MH, Hook M, Luo ZP", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "16293224", "url": "https://glygen.org/publication/PubMed/16293224" } ] }, { "title": "Autocrine activation of PDGFRalpha promotes the progression of ovarian cancer.", "journal": "Oncogene", "date": "2006", "authors": "Matei D, Emerson RE, Lai YC, Baldridge LA, Rao J, Yiannoutsos C, Donner DD", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "16331269", "url": "https://glygen.org/publication/PubMed/16331269" } ] }, { "title": "PDGF-AA and PDGF-BB biosynthesis: proprotein processing in the Golgi complex and lysosomal degradation of PDGF-BB retained intracellularly.", "journal": "The Journal of cell biology", "date": "1992", "authors": "Ostman A, Thyberg J, Westermark B, Heldin CH", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "1639841", "url": "https://glygen.org/publication/PubMed/1639841" } ] }, { "title": "Ligand-binding specificities of laminin-binding integrins: a comprehensive survey of laminin-integrin interactions using recombinant alpha3beta1, alpha6beta1, alpha7beta1 and alpha6beta4 integrins.", "journal": "Matrix biology : journal of the International Society for Matrix Biology", "date": "2006", "authors": "Nishiuchi R, Takagi J, Hayashi M, Ido H, Yagi Y, Sanzen N, Tsuji T, Yamada M, Sekiguchi K", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000157" } ], "reference": [ { "type": "PubMed", "id": "16413178", "url": "https://glygen.org/publication/PubMed/16413178" } ] }, { "title": "Potent inhibition of platelet-derived growth factor-induced responses in vascular smooth muscle cells by BMS-354825 (dasatinib).", "journal": "Molecular pharmacology", "date": "2006", "authors": "Chen Z, Lee FY, Bhalla KN, Wu J", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "16436588", "url": "https://glygen.org/publication/PubMed/16436588" } ] }, { "title": "Preclinical and clinical development of the oral multikinase inhibitor sorafenib in cancer treatment.", "journal": "Drugs of today (Barcelona, Spain : 1998)", "date": "2005", "authors": "Strumberg D", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "16474853", "url": "https://glygen.org/publication/PubMed/16474853" } ] }, { "title": "Construction of recombinant plasmid and prokaryotic expression in E. coli and biological activity analysis of human placenta arresten gene.", "journal": "Hepatobiliary Pancreat. Dis. Int.", "date": "2006", "authors": "Zheng Jin-Ping, Tang Hai-Ying, Chen Xian-Jiu, Yu Bao-Feng, Xie Jun, Wu Tang-Chun", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "16481288", "url": "https://glygen.org/publication/PubMed/16481288" } ] }, { "title": "Involvement of tenascin-C and PG-M/versican in flexor tenosynovial pathology of idiopathic carpal tunnel syndrome.", "journal": "Histology and histopathology", "date": "2006", "authors": "Tsujii M, Hirata H, Yoshida T, Imanaka-Yoshida K, Morita A, Uchida A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "16493581", "url": "https://glygen.org/publication/PubMed/16493581" } ] }, { "title": "MARCO, an innate activation marker of macrophages, is a class A scavenger receptor for Neisseria meningitidis.", "journal": "European journal of immunology", "date": "2006", "authors": "Mukhopadhyay S, Chen Y, Sankala M, Peiser L, Pikkarainen T, Kraal G, Tryggvason K, Gordon S", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "16525990", "url": "https://glygen.org/publication/PubMed/16525990" } ] }, { "title": "High-affinity binding of the NC1 domain of collagen VII to laminin 5 and collagen IV.", "journal": "Biochemical and biophysical research communications", "date": "2006", "authors": "Brittingham R, Uitto J, Fertala A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2214320", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2214320" } ], "reference": [ { "type": "PubMed", "id": "16563355", "url": "https://glygen.org/publication/PubMed/16563355" } ] }, { "title": "Multiple functions of the integrin alpha6beta4 in epidermal homeostasis and tumorigenesis.", "journal": "Molecular and cellular biology", "date": "2006", "authors": "Wilhelmsen K, Litjens SH, Sonnenberg A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000157" } ], "reference": [ { "type": "PubMed", "id": "16581764", "url": "https://glygen.org/publication/PubMed/16581764" } ] }, { "title": "Enzymatic hydroxylation of proline and lysine in protocollagen.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1967", "authors": "Kivirikko KI, Prockop DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "16591531", "url": "https://glygen.org/publication/PubMed/16591531" } ] }, { "title": "Role of COL4A1 in small-vessel disease and hemorrhagic stroke.", "journal": "The New England journal of medicine", "date": "2006", "authors": "Gould DB, Phalan FC, van Mil SE, Sundberg JP, Vahedi K, Massin P, Bousser MG, Heutink P, Miner JH, Tournier-Lasserve E, John SW", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "16598045", "url": "https://glygen.org/publication/PubMed/16598045" } ] }, { "title": "Integrin alpha3beta1, a novel receptor for alpha3(IV) noncollagenous domain and a trans-dominant Inhibitor for integrin alphavbeta3.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Borza CM, Pozzi A, Borza DB, Pedchenko V, Hellmark T, Hudson BG, Zent R", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "16731529", "url": "https://glygen.org/publication/PubMed/16731529" } ] }, { "title": "Collagen XVI harbors an integrin alpha1 beta1 recognition site in its C-terminal domains.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Eble JA, Kassner A, Niland S, Morgelin M, Grifka J, Grassel S", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "16754661", "url": "https://glygen.org/publication/PubMed/16754661" } ] }, { "title": "The discoidin domain receptor DDR2 is a receptor for type X collagen.", "journal": "Matrix biology : journal of the International Society for Matrix Biology", "date": "2006", "authors": "Leitinger B, Kwan AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000171" } ], "reference": [ { "type": "PubMed", "id": "16806867", "url": "https://glygen.org/publication/PubMed/16806867" } ] }, { "title": "TIMP independence of matrix metalloproteinase (MMP)-2 activation by membrane type 2 (MT2)-MMP is determined by contributions of both the MT2-MMP catalytic and hemopexin C domains.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Morrison CJ, Overall CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "16825197", "url": "https://glygen.org/publication/PubMed/16825197" } ] }, { "title": "Role of scavenger receptor MARCO in macrophage responses to CpG oligodeoxynucleotides.", "journal": "Journal of leukocyte biology", "date": "2006", "authors": "Jozefowski S, Sulahian TH, Arredouani M, Kobzik L", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "16882874", "url": "https://glygen.org/publication/PubMed/16882874" } ] }, { "title": "Identification of Neisseria meningitidis nonlipopolysaccharide ligands for class A macrophage scavenger receptor by using a novel assay.", "journal": "Infection and immunity", "date": "2006", "authors": "Peiser L, Makepeace K, Pluddemann A, Savino S, Wright JC, Pizza M, Rappuoli R, Moxon ER, Gordon S", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "16926412", "url": "https://glygen.org/publication/PubMed/16926412" } ] }, { "title": "The synergy site of fibronectin is required for strong interaction with the platelet integrin alphaIIbbeta3.", "journal": "Annals of biomedical engineering", "date": "2006", "authors": "Chada D, Mather T, Nollert MU", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "16933105", "url": "https://glygen.org/publication/PubMed/16933105" } ] }, { "title": "MARCO mediates silica uptake and toxicity in alveolar macrophages from C57BL/6 mice.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Hamilton RF Jr, Thakur SA, Mayfair JK, Holian A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "16984918", "url": "https://glygen.org/publication/PubMed/16984918" } ] }, { "title": "Increased gene expression of matrix metalloproteinase-3 (stromelysin) in skin fibroblasts from patients with severe recessive dystrophic epidermolysis bullosa.", "journal": "Biochemical and biophysical research communications", "date": "1991", "authors": "Sawamura D, Sugawara T, Hashimoto I, Bruckner-Tuderman L, Fujimoto D, Okada Y, Utsumi N, Shikata H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "1704217", "url": "https://glygen.org/publication/PubMed/1704217" } ] }, { "title": "Enzymatic processing of collagen IV by MMP-2 (gelatinase A) affects neutrophil migration and it is modulated by extracatalytic domains.", "journal": "Protein science : a publication of the Protein Society", "date": "2006", "authors": "Monaco S, Sparano V, Gioia M, Sbardella D, Di Pierro D, Marini S, Coletta M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "17088321", "url": "https://glygen.org/publication/PubMed/17088321" } ] }, { "title": "Interchain disulfide bonds in procollagen are located in a large nontriple-helical COOH-terminal domain.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1975", "authors": "Byers PH, Click EM, Harper E, Bornstein P", "evidence": [ { "database": "Reactome", "id": "R-HSA-8948216", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8948216" } ], "reference": [ { "type": "PubMed", "id": "171650", "url": "https://glygen.org/publication/PubMed/171650" } ] }, { "title": "Identification and characterization of a novel human collectin CL-K1.", "journal": "Microbiology and immunology", "date": "2006", "authors": "Keshi H, Sakamoto T, Kawai T, Ohtani K, Katoh T, Jang SJ, Motomura W, Yoshizaki T, Fukuda M, Koyama S, Fukuzawa J, Fukuoh A, Yoshida I, Suzuki Y, Wakamiya N", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "17179669", "url": "https://glygen.org/publication/PubMed/17179669" } ] }, { "title": "Protection against inhaled oxidants through scavenging of oxidized lipids by macrophage receptors MARCO and SR-AI/II.", "journal": "The Journal of clinical investigation", "date": "2007", "authors": "Dahl M, Bauer AK, Arredouani M, Soininen R, Tryggvason K, Kleeberger SR, Kobzik L", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "17332894", "url": "https://glygen.org/publication/PubMed/17332894" } ] }, { "title": "Critical residues of alphaX I-domain recognizing fibrinogen central domain.", "journal": "Biochemical and biophysical research communications", "date": "2007", "authors": "Lee JH, Choi J, Nham SU", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "17339034", "url": "https://glygen.org/publication/PubMed/17339034" } ] }, { "title": "Sunitinib: a VEGF and PDGF receptor protein kinase and angiogenesis inhibitor.", "journal": "Biochemical and biophysical research communications", "date": "2007", "authors": "Roskoski R Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "17367763", "url": "https://glygen.org/publication/PubMed/17367763" } ] }, { "title": "COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage.", "journal": "Stroke", "date": "2007", "authors": "Vahedi K, Kubis N, Boukobza M, Arnoult M, Massin P, Tournier-Lasserve E, Bousser MG", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "17379824", "url": "https://glygen.org/publication/PubMed/17379824" } ] }, { "title": "Interaction of cartilage oligomeric matrix protein/thrombospondin 5 with aggrecan.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Chen FH, Herndon ME, Patel N, Hecht JT, Tuan RS, Lawler J", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "17588949", "url": "https://glygen.org/publication/PubMed/17588949" } ] }, { "title": "Platelet-derived growth factor receptor-alpha: a novel therapeutic target in human hepatocellular cancer.", "journal": "Molecular cancer therapeutics", "date": "2007", "authors": "Stock P, Monga D, Tan X, Micsenyi A, Loizos N, Monga SP", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "17604334", "url": "https://glygen.org/publication/PubMed/17604334" } ] }, { "title": "COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.", "journal": "Annals of neurology", "date": "2007", "authors": "Sibon I, Coupry I, Menegon P, Bouchet JP, Gorry P, Burgelin I, Calvas P, Orignac I, Dousset V, Lacombe D, Orgogozo JM, Arveiler B, Goizet C", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "17696175", "url": "https://glygen.org/publication/PubMed/17696175" } ] }, { "title": "Scavenger receptor class-A is a novel cell surface receptor for double-stranded RNA.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2008", "authors": "Limmon GV, Arredouani M, McCann KL, Corn Minor RA, Kobzik L, Imani F", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "17709607", "url": "https://glygen.org/publication/PubMed/17709607" } ] }, { "title": "E7080, a novel inhibitor that targets multiple kinases, has potent antitumor activities against stem cell factor producing human small cell lung cancer H146, based on angiogenesis inhibition.", "journal": "International journal of cancer", "date": "2008", "authors": "Matsui J, Yamamoto Y, Funahashi Y, Tsuruoka A, Watanabe T, Wakabayashi T, Uenaka T, Asada M", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "17943726", "url": "https://glygen.org/publication/PubMed/17943726" } ] }, { "title": "Involvement of alpha(v)beta3 integrins in osteoclast function.", "journal": "Journal of bone and mineral metabolism", "date": "2007", "authors": "Nakamura I, Duong LT, Rodan SB, Rodan GA", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "17968485", "url": "https://glygen.org/publication/PubMed/17968485" } ] }, { "title": "Polysialic acid in the plasticity of the developing and adult vertebrate nervous system.", "journal": "Nature reviews. Neuroscience", "date": "2008", "authors": "Rutishauser U", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "18059411", "url": "https://glygen.org/publication/PubMed/18059411" } ] }, { "title": "COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.", "journal": "The New England journal of medicine", "date": "2007", "authors": "Plaisier E, Gribouval O, Alamowitch S, Mougenot B, Prost C, Verpont MC, Marro B, Desmettre T, Cohen SY, Roullet E, Dracon M, Fardeau M, Van Agtmael T, Kerjaschki D, Antignac C, Ronco P", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "18160688", "url": "https://glygen.org/publication/PubMed/18160688" } ] }, { "title": "Characterization of recombinant human prolyl 3-hydroxylase isoenzyme 2, an enzyme modifying the basement membrane collagen IV.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Tiainen P, Pasanen A, Sormunen R, Myllyharju J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "18487197", "url": "https://glygen.org/publication/PubMed/18487197" } ] }, { "title": "Recognition and plasma clearance of endotoxin by scavenger receptors.", "journal": "Nature", "date": "1991", "authors": "Hampton RY, Golenbock DT, Penman M, Krieger M, Raetz CR", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "1852209", "url": "https://glygen.org/publication/PubMed/1852209" } ] }, { "title": "BIBF 1120: triple angiokinase inhibitor with sustained receptor blockade and good antitumor efficacy.", "journal": "Cancer research", "date": "2008", "authors": "Hilberg F, Roth GJ, Krssak M, Kautschitsch S, Sommergruber W, Tontsch-Grunt U, Garin-Chesa P, Bader G, Zoephel A, Quant J, Heckel A, Rettig WJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "18559524", "url": "https://glygen.org/publication/PubMed/18559524" } ] }, { "title": "Supramolecular interactions in the dermo-epidermal junction zone: anchoring fibril-collagen VII tightly binds to banded collagen fibrils.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Villone D, Fritsch A, Koch M, Bruckner-Tuderman L, Hansen U, Bruckner P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2214320", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2214320" } ], "reference": [ { "type": "PubMed", "id": "18599485", "url": "https://glygen.org/publication/PubMed/18599485" } ] }, { "title": "missing tag=TI", "journal": "missing tag=JT", "date": "missing", "authors": "author information missing", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "18607724", "url": "https://glygen.org/publication/PubMed/18607724" } ] }, { "title": "Matrix metalloproteinase-11/stromelysin-3 exhibits collagenolytic function against collagen VI under normal and malignant conditions.", "journal": "Oncogene", "date": "2008", "authors": "Motrescu ER, Blaise S, Etique N, Messaddeq N, Chenard MP, Stoll I, Tomasetto C, Rio MC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "18622425", "url": "https://glygen.org/publication/PubMed/18622425" } ] }, { "title": "Characterization of the anti-angiogenic properties of arresten, an alpha1beta1 integrin-dependent collagen-derived tumor suppressor.", "journal": "Experimental cell research", "date": "2008-11-01", "authors": "Nyberg Pia, Xie Liang, Sugimoto Hikaru, Colorado Pablo, Sund Malin, Holthaus Kathryn, Sudhakar Akulapalli, Salo Tuula, Kalluri Raghu", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "18775695", "url": "https://glygen.org/publication/PubMed/18775695" } ] }, { "title": "Scavenger receptor collectin placenta 1 (CL-P1) predominantly mediates zymosan phagocytosis by human vascular endothelial cells.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Jang S, Ohtani K, Fukuoh A, Yoshizaki T, Fukuda M, Motomura W, Mori K, Fukuzawa J, Kitamoto N, Yoshida I, Suzuki Y, Wakamiya N", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "19073604", "url": "https://glygen.org/publication/PubMed/19073604" } ] }, { "title": "Core glycosylation of collagen is initiated by two beta(1-O)galactosyltransferases.", "journal": "Molecular and cellular biology", "date": "2009", "authors": "Schegg B, Hulsmeier AJ, Rutschmann C, Maag C, Hennet T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "19075007", "url": "https://glygen.org/publication/PubMed/19075007" } ] }, { "title": "COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.", "journal": "Annals of neurology", "date": "2009", "authors": "de Vries LS, Koopman C, Groenendaal F, Van Schooneveld M, Verheijen FW, Verbeek E, Witkamp TD, van der Worp HB, Mancini G", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "19194877", "url": "https://glygen.org/publication/PubMed/19194877" } ] }, { "title": "Scavenger receptor A: a new route for adenovirus 5.", "journal": "Molecular pharmaceutics", "date": "2009", "authors": "Haisma HJ, Boesjes M, Beerens AM, van der Strate BW, Curiel DT, Pluddemann A, Gordon S, Bellu AR", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "19227971", "url": "https://glygen.org/publication/PubMed/19227971" } ] }, { "title": "A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly.", "journal": "European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society", "date": "2010", "authors": "Shah S, Kumar Y, McLean B, Churchill A, Stoodley N, Rankin J, Rizzu P, van der Knaap M, Jardine P", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "19477666", "url": "https://glygen.org/publication/PubMed/19477666" } ] }, { "title": "Molecular interplay between endostatin, integrins, and heparan sulfate.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Faye C, Moreau C, Chautard E, Jetne R, Fukai N, Ruggiero F, Humphries MJ, Olsen BR, Ricard-Blum S", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "19502598", "url": "https://glygen.org/publication/PubMed/19502598" } ] }, { "title": "Response to a novel multitargeted tyrosine kinase inhibitor pazopanib in metastatic Merkel cell carcinoma.", "journal": "Journal of clinical oncology : official journal of the American Society of Clinical Oncology", "date": "2009", "authors": "Davids MS, Charlton A, Ng SS, Chong ML, Laubscher K, Dar M, Hodge J, Soong R, Goh BC", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "19564526", "url": "https://glygen.org/publication/PubMed/19564526" } ] }, { "title": "Collagens.", "journal": "Cell and tissue research", "date": "2010", "authors": "Gordon MK, Hahn RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "19693541", "url": "https://glygen.org/publication/PubMed/19693541" } ] }, { "title": "A sulfilimine bond identified in collagen IV.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Vanacore R, Ham AJ, Voehler M, Sanders CR, Conrads TP, Veenstra TD, Sharpless KB, Dawson PE, Hudson BG", "evidence": [ { "database": "Reactome", "id": "R-HSA-2243919", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2243919" } ], "reference": [ { "type": "PubMed", "id": "19729652", "url": "https://glygen.org/publication/PubMed/19729652" } ] }, { "title": "Macrophage scavenger receptor A mediates adhesion to apolipoproteins A-I and E.", "journal": "Biochemistry", "date": "2009", "authors": "Neyen C, Pluddemann A, Roversi P, Thomas B, Cai L, van der Westhuyzen DR, Sim RB, Gordon S", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "19911804", "url": "https://glygen.org/publication/PubMed/19911804" } ] }, { "title": "Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and alphaVbeta3 integrin.", "journal": "Molecular and cellular biochemistry", "date": "2010", "authors": "Rock MJ, Holden P, Horton WA, Cohn DH", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "20033473", "url": "https://glygen.org/publication/PubMed/20033473" } ] }, { "title": "Sites of stromelysin cleavage in collagen types II, IX, X, and XI of cartilage.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Wu JJ, Lark MW, Chun LE, Eyre DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "2005102", "url": "https://glygen.org/publication/PubMed/2005102" } ] }, { "title": "Thrombospondin-induced adhesion of human platelets.", "journal": "The Journal of clinical investigation", "date": "1991", "authors": "Tuszynski GP, Kowalska MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "2010551", "url": "https://glygen.org/publication/PubMed/2010551" } ] }, { "title": "An accessory to the 'Trinity': SR-As are essential pathogen sensors of extracellular dsRNA, mediating entry and leading to subsequent type I IFN responses.", "journal": "PLoS pathogens", "date": "2010", "authors": "DeWitte-Orr SJ, Collins SE, Bauer CM, Bowdish DM, Mossman KL", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "20360967", "url": "https://glygen.org/publication/PubMed/20360967" } ] }, { "title": "Ophthalmological features associated with COL4A1 mutations.", "journal": "Archives of ophthalmology (Chicago, Ill. : 1960)", "date": "2010", "authors": "Coupry I, Sibon I, Mortemousque B, Rouanet F, Mine M, Goizet C", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "20385946", "url": "https://glygen.org/publication/PubMed/20385946" } ] }, { "title": "The human collagen beta(1-O)galactosyltransferase, GLT25D1, is a soluble endoplasmic reticulum localized protein.", "journal": "BMC cell biology", "date": "2010", "authors": "Liefhebber JM, Punt S, Spaan WJ, van Leeuwen HC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "20470363", "url": "https://glygen.org/publication/PubMed/20470363" } ] }, { "title": "Decorin interacts with fibrillar collagen of embryonic and adult human skin.", "journal": "Journal of structural biology", "date": "1991", "authors": "Fleischmajer R, Fisher LW, MacDonald ED, Jacobs L Jr, Perlish JS, Termine JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "2059554", "url": "https://glygen.org/publication/PubMed/2059554" } ] }, { "title": "Lumican inhibits cell migration through alpha2beta1 integrin.", "journal": "Experimental cell research", "date": "2010", "authors": "Zeltz C, Brezillon S, Kapyla J, Eble JA, Bobichon H, Terryn C, Perreau C, Franz CM, Heino J, Maquart FX, Wegrowski Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "20705068", "url": "https://glygen.org/publication/PubMed/20705068" } ] }, { "title": "The class A scavenger receptor, macrophage receptor with collagenous structure, is the major phagocytic receptor for Clostridium sordellii expressed by human decidual macrophages.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2010", "authors": "Thelen T, Hao Y, Medeiros AI, Curtis JL, Serezani CH, Kobzik L, Harris LH, Aronoff DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "20810988", "url": "https://glygen.org/publication/PubMed/20810988" } ] }, { "title": "Targeting the {alpha} receptor for platelet-derived growth factor as a primary or combination therapy in a preclinical model of prostate cancer skeletal metastasis.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2010", "authors": "Russell MR, Liu Q, Fatatis A", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "20813817", "url": "https://glygen.org/publication/PubMed/20813817" } ] }, { "title": "Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain.", "journal": "American journal of medical genetics. Part A", "date": "2010", "authors": "Plaisier E, Chen Z, Gekeler F, Benhassine S, Dahan K, Marro B, Alamowitch S, Paques M, Ronco P", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "20818663", "url": "https://glygen.org/publication/PubMed/20818663" } ] }, { "title": "Cellular recognition and trafficking of amorphous silica nanoparticles by macrophage scavenger receptor A.", "journal": "Nanotoxicology", "date": "2011", "authors": "Orr GA, Chrisler WB, Cassens KJ, Tan R, Tarasevich BJ, Markillie LM, Zangar RC, Thrall BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "20849212", "url": "https://glygen.org/publication/PubMed/20849212" } ] }, { "title": "Phagocytosis of fungal agents and yeast via macrophage cell surface scavenger receptors.", "journal": "The Journal of surgical research", "date": "2010", "authors": "Wang R, Chandawarkar RY", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "20888598", "url": "https://glygen.org/publication/PubMed/20888598" } ] }, { "title": "Collectin 11 (CL-11, CL-K1) is a MASP-1/3-associated plasma collectin with microbial-binding activity.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2010", "authors": "Hansen S, Selman L, Palaniyar N, Ziegler K, Brandt J, Kliem A, Jonasson M, Skjoedt MO, Nielsen O, Hartshorn K, Jorgensen TJ, Skjodt K, Holmskov U", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "20956340", "url": "https://glygen.org/publication/PubMed/20956340" } ] }, { "title": "Inhibition of PDGF, TGF-beta, and Abl signaling and reduction of liver fibrosis by the small molecule Bcr-Abl tyrosine kinase antagonist Nilotinib.", "journal": "Journal of hepatology", "date": "2011", "authors": "Liu Y, Wang Z, Kwong SQ, Lui ELH, Friedman SL, Li FR, Lam RWC, Zhang GC, Zhang H, Ye T", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "21251937", "url": "https://glygen.org/publication/PubMed/21251937" } ] }, { "title": "Activation of multiple proto-oncogenic tyrosine kinases in breast cancer via loss of the PTPN12 phosphatase.", "journal": "Cell", "date": "2011", "authors": "Sun T, Aceto N, Meerbrey KL, Kessler JD, Zhou C, Migliaccio I, Nguyen DX, Pavlova NN, Botero M, Huang J, Bernardi RJ, Schmitt E, Hu G, Li MZ, Dephoure N, Gygi SP, Rao M, Creighton CJ, Hilsenbeck SG, Shaw CA, Muzny D, Gibbs RA, Wheeler DA, Osborne CK, Schiff R, Bentires-Alj M, Elledge SJ, Westbrook TF", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "21376233", "url": "https://glygen.org/publication/PubMed/21376233" } ] }, { "title": "Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.", "journal": "Mol. Vis.", "date": "2011", "authors": "Karolak JA, Kulinska K, Nowak DM, Pitarque JA, Molinari A, Rydzanicz M, Bejjani BA, Gajecka M", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "21527998", "url": "https://glygen.org/publication/PubMed/21527998" } ] }, { "title": "Extracellular matrix composition and remodeling in human abdominal aortic aneurysms: a proteomics approach.", "journal": "Molecular & cellular proteomics : MCP", "date": "2011", "authors": "Didangelos A, Yin X, Mandal K, Saje A, Smith A, Xu Q, Jahangiri M, Mayr M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "21593211", "url": "https://glygen.org/publication/PubMed/21593211" } ] }, { "title": "Dentin matrix protein 1 (DMP1) signals via cell surface integrin.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Wu H, Teng PN, Jayaraman T, Onishi S, Li J, Bannon L, Huang H, Close J, Sfeir C", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "21642437", "url": "https://glygen.org/publication/PubMed/21642437" } ] }, { "title": "Tumor promoter-stimulated Mr 92,000 gelatinase secreted by normal and malignant human cells: isolation and characterization of the enzyme from HT1080 tumor cells.", "journal": "Cancer research", "date": "1990", "authors": "Moll UM, Youngleib GL, Rosinski KB, Quigley JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "2169335", "url": "https://glygen.org/publication/PubMed/2169335" } ] }, { "title": "Effect of overexpression of human SR-AI on oxLDL uptake and apoptosis in 293T cells.", "journal": "International immunopharmacology", "date": "2011", "authors": "Yang H, Chen SC, Tang YQ, Dai YL", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "21782039", "url": "https://glygen.org/publication/PubMed/21782039" } ] }, { "title": "Collagen I and III and their decorin modified surfaces studied by atomic force microscopy and the elucidation of their affinity toward positive apolipoprotein B-100 residue by quartz crystal microbalance.", "journal": "The Analyst", "date": "2011", "authors": "Witos J, Saint-Guirons J, Meinander K, D'Ulivo L, Riekkola ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "21789315", "url": "https://glygen.org/publication/PubMed/21789315" } ] }, { "title": "Protein export at the ER: loading big collagens into COPII carriers.", "journal": "The EMBO journal", "date": "2011", "authors": "Malhotra V, Erlmann P", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "21878990", "url": "https://glygen.org/publication/PubMed/21878990" } ] }, { "title": "MMP mediated degradation of type VI collagen is highly associated with liver fibrosis--identification and validation of a novel biochemical marker assay.", "journal": "PloS one", "date": "2011", "authors": "Veidal SS, Karsdal MA, Vassiliadis E, Nawrocki A, Larsen MR, Nguyen QH, Hagglund P, Luo Y, Zheng Q, Vainer B, Leeming DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "21935455", "url": "https://glygen.org/publication/PubMed/21935455" } ] }, { "title": "Stepwise proteolytic activation of type I procollagen to collagen within the secretory pathway of tendon fibroblasts in situ.", "journal": "The Biochemical journal", "date": "2012", "authors": "Canty-Laird EG, Lu Y, Kadler KE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "21967573", "url": "https://glygen.org/publication/PubMed/21967573" } ] }, { "title": "Dentin phosphoprotein (DPP) activates integrin-mediated anchorage-dependent signals in undifferentiated mesenchymal cells.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Eapen A, Ramachandran A, George A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "22134916", "url": "https://glygen.org/publication/PubMed/22134916" } ] }, { "title": "Molecular identification of hydroxylysine kinase and of ammoniophospholyases acting on 5-phosphohydroxy-L-lysine and phosphoethanolamine.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Veiga-da-Cunha M, Hadi F, Balligand T, Stroobant V, Van Schaftingen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "22241472", "url": "https://glygen.org/publication/PubMed/22241472" } ] }, { "title": "MMP mediated type V collagen degradation (C5M) is elevated in ankylosing spondylitis.", "journal": "Clinical biochemistry", "date": "2012", "authors": "Veidal SS, Larsen DV, Chen X, Sun S, Zheng Q, Bay-Jensen AC, Leeming DJ, Nawrocki A, Larsen MR, Schett G, Karsdal MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "22382088", "url": "https://glygen.org/publication/PubMed/22382088" } ] }, { "title": "The epidermal basement membrane is a composite of separate laminin- or collagen IV-containing networks connected by aggregated perlecan, but not by nidogens.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Behrens DT, Villone D, Koch M, Brunner G, Sorokin L, Robenek H, Bruckner-Tuderman L, Bruckner P, Hansen U", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000157" } ], "reference": [ { "type": "PubMed", "id": "22493504", "url": "https://glygen.org/publication/PubMed/22493504" } ] }, { "title": "Human macrophage scavenger receptors: primary structure, expression, and localization in atherosclerotic lesions.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1990", "authors": "Matsumoto A, Naito M, Itakura H, Ikemoto S, Asaoka H, Hayakawa I, Kanamori H, Aburatani H, Takaku F, Suzuki H, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "2251254", "url": "https://glygen.org/publication/PubMed/2251254" } ] }, { "title": "COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.", "journal": "Annals of neurology", "date": "2012", "authors": "Weng YC, Sonni A, Labelle-Dumais C, de Leau M, Kauffman WB, Jeanne M, Biffi A, Greenberg SM, Rosand J, Gould DB", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "22522439", "url": "https://glygen.org/publication/PubMed/22522439" } ] }, { "title": "Purification and characterization of extracellular matrix-degrading metalloproteinase, matrin (pump-1), secreted from human rectal carcinoma cell line.", "journal": "Cancer research", "date": "1990", "authors": "Miyazaki K, Hattori Y, Umenishi F, Yasumitsu H, Umeda M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "2253219", "url": "https://glygen.org/publication/PubMed/2253219" } ] }, { "title": "Tetrastatin, the NC1 domain of the alpha4(IV) collagen chain: a novel potent anti-tumor matrikine.", "journal": "PloS one", "date": "2012", "authors": "Brassart-Pasco S, Senechal K, Thevenard J, Ramont L, Devy J, Di Stefano L, Dupont-Deshorgue A, Brezillon S, Feru J, Jazeron JF, Diebold MD, Ricard-Blum S, Maquart FX, Monboisse JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "22539938", "url": "https://glygen.org/publication/PubMed/22539938" } ] }, { "title": "Biological functions of the novel collectins CL-L1, CL-K1, and CL-P1.", "journal": "Journal of biomedicine & biotechnology", "date": "2012", "authors": "Ohtani K, Suzuki Y, Wakamiya N", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "22570530", "url": "https://glygen.org/publication/PubMed/22570530" } ] }, { "title": "Childhood presentation of COL4A1 mutations.", "journal": "Developmental medicine and child neurology", "date": "2012", "authors": "Shah S, Ellard S, Kneen R, Lim M, Osborne N, Rankin J, Stoodley N, van der Knaap M, Whitney A, Jardine P", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "22574627", "url": "https://glygen.org/publication/PubMed/22574627" } ] }, { "title": "Peroxidasin forms sulfilimine chemical bonds using hypohalous acids in tissue genesis.", "journal": "Nature chemical biology", "date": "2012", "authors": "Bhave G, Cummings CF, Vanacore RM, Kumagai-Cresse C, Ero-Tolliver IA, Rafi M, Kang JS, Pedchenko V, Fessler LI, Fessler JH, Hudson BG", "evidence": [ { "database": "Reactome", "id": "R-HSA-2243919", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2243919" } ], "reference": [ { "type": "PubMed", "id": "22842973", "url": "https://glygen.org/publication/PubMed/22842973" } ] }, { "title": "Target-derived matricryptins organize cerebellar synapse formation through alpha3beta1 integrins.", "journal": "Cell reports", "date": "2012", "authors": "Su J, Stenbjorn RS, Gorse K, Su K, Hauser KF, Ricard-Blum S, Pihlajaniemi T, Fox MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "22884367", "url": "https://glygen.org/publication/PubMed/22884367" } ] }, { "title": "Stromal platelet-derived growth factor receptor alpha (PDGFRalpha) provides a therapeutic target independent of tumor cell PDGFRalpha expression in lung cancer xenografts.", "journal": "Molecular cancer therapeutics", "date": "2012", "authors": "Gerber DE, Gupta P, Dellinger MT, Toombs JE, Peyton M, Duignan I, Malaby J, Bailey T, Burns C, Brekken RA, Loizos N", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "22933705", "url": "https://glygen.org/publication/PubMed/22933705" } ] }, { "title": "Immunoelectron microscopy of type X collagen: supramolecular forms within embryonic chick cartilage.", "journal": "Developmental biology", "date": "1990", "authors": "Schmid TM, Linsenmayer TF", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022090", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022090" } ], "reference": [ { "type": "PubMed", "id": "2307289", "url": "https://glygen.org/publication/PubMed/2307289" } ] }, { "title": "Scavenger receptor-mediated uptake and metabolism of lipid vesicles containing acidic phospholipids by mouse peritoneal macrophages.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Nishikawa K, Arai H, Inoue K", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "2318890", "url": "https://glygen.org/publication/PubMed/2318890" } ] }, { "title": "MARCO is required for TLR2- and Nod2-mediated responses to Streptococcus pneumoniae and clearance of pneumococcal colonization in the murine nasopharynx.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2013", "authors": "Dorrington MG, Roche AM, Chauvin SE, Tu Z, Mossman KL, Weiser JN, Bowdish DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "23197261", "url": "https://glygen.org/publication/PubMed/23197261" } ] }, { "title": "Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.", "journal": "Annals of neurology", "date": "2013", "authors": "Yoneda Y, Haginoya K, Kato M, Osaka H, Yokochi K, Arai H, Kakita A, Yamamoto T, Otsuki Y, Shimizu S, Wada T, Koyama N, Mino Y, Kondo N, Takahashi S, Hirabayashi S, Takanashi J, Okumura A, Kumagai T, Hirai S, Nabetani M, Saitoh S, Hattori A, Yamasaki M, Kumakura A, Sugo Y, Nishiyama K, Miyatake S, Tsurusaki Y, Doi H, Miyake N, Matsumoto N, Saitsu H", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "23225343", "url": "https://glygen.org/publication/PubMed/23225343" } ] }, { "title": "Endorepellin laminin-like globular 1/2 domains bind Ig3-5 of vascular endothelial growth factor (VEGF) receptor 2 and block pro-angiogenic signaling by VEGFA in endothelial cells.", "journal": "The FEBS journal", "date": "2013", "authors": "Willis CD, Poluzzi C, Mongiat M, Iozzo RV", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "23374253", "url": "https://glygen.org/publication/PubMed/23374253" } ] }, { "title": "Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.", "journal": "American journal of ophthalmology", "date": "2013", "authors": "Rodahl E, Knappskog PM, Majewski J, Johansson S, Telstad W, Krakenes J, Boman H", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "23394911", "url": "https://glygen.org/publication/PubMed/23394911" } ] }, { "title": "Pazopanib inhibits the activation of PDGFRbeta-expressing astrocytes in the brain metastatic microenvironment of breast cancer cells.", "journal": "The American journal of pathology", "date": "2013", "authors": "Gril B, Palmieri D, Qian Y, Anwar T, Liewehr DJ, Steinberg SM, Andreu Z, Masana D, Fernandez P, Steeg PS, Vidal-Vanaclocha F", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "23583652", "url": "https://glygen.org/publication/PubMed/23583652" } ] }, { "title": "Immunoelectron microscopy of osteonectin and type I collagen in osteoblasts and bone matrix.", "journal": "Calcified tissue international", "date": "1990", "authors": "Romanowski R, Jundt G, Termine JD, von der Mark K, Schulz A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "2364322", "url": "https://glygen.org/publication/PubMed/2364322" } ] }, { "title": "A 125/115-kDa cell surface receptor specific for vitronectin interacts with the arginine-glycine-aspartic acid adhesion sequence derived from fibronectin.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1985", "authors": "Pytela R, Pierschbacher MD, Ruoslahti E", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "2412224", "url": "https://glygen.org/publication/PubMed/2412224" } ] }, { "title": "Platelet membrane glycoprotein IIb/IIIa: member of a family of Arg-Gly-Asp--specific adhesion receptors.", "journal": "Science (New York, N.Y.)", "date": "1986", "authors": "Pytela R, Pierschbacher MD, Ginsberg MH, Plow EF, Ruoslahti E", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "2420006", "url": "https://glygen.org/publication/PubMed/2420006" } ] }, { "title": "Interaction of vitronectin with collagen.", "journal": "The Journal of biological chemistry", "date": "1986", "authors": "Gebb C, Hayman EG, Engvall E, Ruoslahti E", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "2430969", "url": "https://glygen.org/publication/PubMed/2430969" } ] }, { "title": "Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.", "journal": "Clinical genetics", "date": "2014", "authors": "Deml B, Reis LM, Maheshwari M, Griffis C, Bick D, Semina EV", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "24628545", "url": "https://glygen.org/publication/PubMed/24628545" } ] }, { "title": "Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity.", "journal": "Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie", "date": "2014", "authors": "Zenteno JC, Crespi J, Buentello-Volante B, Buil JA, Bassaganyas F, Vela-Segarra JI, Diaz-Cascajosa J, Marieges MT", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "25228067", "url": "https://glygen.org/publication/PubMed/25228067" } ] }, { "title": "Crenolanib, a PDGFR inhibitor, suppresses lung cancer cell proliferation and inhibits tumor growth in vivo.", "journal": "OncoTargets and therapy", "date": "2014", "authors": "Wang P, Song L, Ge H, Jin P, Jiang Y, Hu W, Geng N", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "25328409", "url": "https://glygen.org/publication/PubMed/25328409" } ] }, { "title": "Cleavage of type VII collagen by interstitial collagenase and type IV collagenase (gelatinase) derived from human skin.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Seltzer JL, Eisen AZ, Bauer EA, Morris NP, Glanville RW, Burgeson RE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "2537292", "url": "https://glygen.org/publication/PubMed/2537292" } ] }, { "title": "Molecular cloning of the alpha-subunit of human prolyl 4-hydroxylase: the complete cDNA-derived amino acid sequence and evidence for alternative splicing of RNA transcripts.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1989", "authors": "Helaakoski T, Vuori K, Myllyla R, Kivirikko KI, Pihlajaniemi T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "2543975", "url": "https://glygen.org/publication/PubMed/2543975" } ] }, { "title": "Human and rat malignant-tumor-associated mRNAs encode stromelysin-like metalloproteinases.", "journal": "Biochemistry", "date": "1989", "authors": "Nicholson R, Murphy G, Breathnach R", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "2548603", "url": "https://glygen.org/publication/PubMed/2548603" } ] }, { "title": "SV40-transformed human lung fibroblasts secrete a 92-kDa type IV collagenase which is identical to that secreted by normal human macrophages.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Wilhelm SM, Collier IE, Marmer BL, Eisen AZ, Grant GA, Goldberg GI", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "2551898", "url": "https://glygen.org/publication/PubMed/2551898" } ] }, { "title": "The FLT3 and PDGFR inhibitor crenolanib is a substrate of the multidrug resistance protein ABCB1 but does not inhibit transport function at pharmacologically relevant concentrations.", "journal": "Investigational new drugs", "date": "2015", "authors": "Mathias TJ, Natarajan K, Shukla S, Doshi KA, Singh ZN, Ambudkar SV, Baer MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "25597754", "url": "https://glygen.org/publication/PubMed/25597754" } ] }, { "title": "cDNA clones coding for the pro-alpha1(IV) chain of human type IV procollagen reveal an unusual homology of amino acid sequences in two halves of the carboxyl-terminal domain.", "journal": "J. Biol. Chem.", "date": "1985", "authors": "Pihlajaniemi T, Tryggvason K, Myers J C, Kurkinen M, Lebo R, Cheung M C, Prockop D J, Boyd C D", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "2581969", "url": "https://glygen.org/publication/PubMed/2581969" } ] }, { "title": "Restricted homology between human alpha 1 type IV and other procollagen chains.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1985", "authors": "Brinker JM, Gudas LJ, Loidl HR, Wang SY, Rosenbloom J, Kefalides NA, Myers JC", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "2582422", "url": "https://glygen.org/publication/PubMed/2582422" } ] }, { "title": "Structural organization of the gene for the alpha 1 chain of human type IV collagen.", "journal": "J. Biol. Chem.", "date": "1989", "authors": "Soininen R, Huotari M, Ganguly A, Prockop DJ, Tryggvason K", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "2701944", "url": "https://glygen.org/publication/PubMed/2701944" } ] }, { "title": "Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy.", "journal": "Ann. Neurol.", "date": "2016", "authors": "Verdura Edgard, Herv\u00e9 Dominique, Bergametti Fran\u00e7oise, Jacquet Cl\u00e9mence, Morvan Typhaine, Prieto-Morin Carol, Mackowiak Alexandre, Manchon Eric, Hosseini Hassan, Cordonnier Charlotte, Girard-Buttaz Isabelle, Rosenstingl Sophie, Hagel Christian, Kuhlenba\u00fcmer Gregor, Leca-Radu Elena, Goux Didier, Fleming Lauren, Van Agtmael Tom, Chabriat Hugues, Chapon Fran\u00e7oise, Tournier-Lasserve Elisabeth", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "27666438", "url": "https://glygen.org/publication/PubMed/27666438" } ] }, { "title": "Binding properties of the neural cell adhesion molecule to different components of the extracellular matrix.", "journal": "Journal of neurochemistry", "date": "1989", "authors": "Probstmeier R, Kuhn K, Schachner M", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "2809592", "url": "https://glygen.org/publication/PubMed/2809592" } ] }, { "title": "H-ras oncogene-transformed human bronchial epithelial cells (TBE-1) secrete a single metalloprotease capable of degrading basement membrane collagen.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Collier IE, Wilhelm SM, Eisen AZ, Marmer BL, Grant GA, Seltzer JL, Kronberger A, He CS, Bauer EA, Goldberg GI", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "2834383", "url": "https://glygen.org/publication/PubMed/2834383" } ] }, { "title": "Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1.", "journal": "Brain", "date": "2017", "authors": "Siitonen Maija, B\u00f6rjesson-Hanson Anne, P\u00f6yh\u00f6nen Minna, Ora Ari, Pasanen Petra, Bras Jose, Kern Silke, Kern J\u00fcrgen, Andersen Oluf, Stanescu Horia, Kleta Robert, Baumann Marc, Kalaria Rajesh, Kalimo Hannu, Singleton Andy, Hardy John, Viitanen Matti, Myllykangas Liisa, Guerreiro Rita", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "28369186", "url": "https://glygen.org/publication/PubMed/28369186" } ] }, { "title": "Inhibition of the platelet-derived growth factor receptor beta (PDGFRB) using gene silencing, crenolanib besylate, or imatinib mesylate hampers the malignant phenotype of mesothelioma cell lines.", "journal": "Genes & cancer", "date": "2017", "authors": "Melaiu O, Catalano C, De Santi C, Cipollini M, Figlioli G, Pelle L, Barone E, Evangelista M, Guazzelli A, Boldrini L, Sensi E, Bonotti A, Foddis R, Cristaudo A, Mutti L, Fontanini G, Gemignani F, Landi S", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "28435517", "url": "https://glygen.org/publication/PubMed/28435517" } ] }, { "title": "The arrangement of intra- and intermolecular disulfide bonds in the carboxyterminal, non-collagenous aggregation and cross-linking domain of basement-membrane type IV collagen.", "journal": "European journal of biochemistry", "date": "1988", "authors": "Siebold B, Deutzmann R, Kuhn K", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "2844531", "url": "https://glygen.org/publication/PubMed/2844531" } ] }, { "title": "Purification of a gelatin-degrading type IV collagenase secreted by ras oncogene-transformed fibroblasts.", "journal": "Journal of the National Cancer Institute", "date": "1988", "authors": "Spinucci C, Zucker S, Wieman JM, Lysik RM, Imhof B, Ramamurthy N, Liotta LA, Nagase H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "2845110", "url": "https://glygen.org/publication/PubMed/2845110" } ] }, { "title": "A precision therapy against cancers driven by KIT/PDGFRA mutations.", "journal": "Science translational medicine", "date": "2017", "authors": "Evans EK, Gardino AK, Kim JL, Hodous BL, Shutes A, Davis A, Zhu XJ, Schmidt-Kittler O, Wilson D, Wilson K, DiPietro L, Zhang Y, Brooijmans N, LaBranche TP, Wozniak A, Gebreyohannes YK, Schoffski P, Heinrich MC, DeAngelo DJ, Miller S, Wolf B, Kohl N, Guzi T, Lydon N, Boral A, Lengauer C", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "29093181", "url": "https://glygen.org/publication/PubMed/29093181" } ] }, { "title": "The PDGF/PDGFR pathway as a drug target.", "journal": "Molecular aspects of medicine", "date": "2018", "authors": "Papadopoulos N, Lennartsson J", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "29137923", "url": "https://glygen.org/publication/PubMed/29137923" } ] }, { "title": "Triple Angiokinase Inhibitor Nintedanib Directly Inhibits Tumor Cell Growth and Induces Tumor Shrinkage via Blocking Oncogenic Receptor Tyrosine Kinases.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2018", "authors": "Hilberg F, Tontsch-Grunt U, Baum A, Le AT, Doebele RC, Lieb S, Gianni D, Voss T, Garin-Chesa P, Haslinger C, Kraut N", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "29263244", "url": "https://glygen.org/publication/PubMed/29263244" } ] }, { "title": "The role of small molecule platelet-derived growth factor receptor (PDGFR) inhibitors in the treatment of neoplastic disorders.", "journal": "Pharmacological research", "date": "2018", "authors": "Roskoski R Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "29408302", "url": "https://glygen.org/publication/PubMed/29408302" } ] }, { "title": "Structural and clinical consequences of activation loop mutations in class III receptor tyrosine kinases.", "journal": "Pharmacology & therapeutics", "date": "2018", "authors": "Klug LR, Kent JD, Heinrich MC", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "29964125", "url": "https://glygen.org/publication/PubMed/29964125" } ] }, { "title": "The collagen substrate specificity of human neutrophil collagenase.", "journal": "The Journal of biological chemistry", "date": "1987", "authors": "Hasty KA, Jeffrey JJ, Hibbs MS, Welgus HG", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "3038863", "url": "https://glygen.org/publication/PubMed/3038863" } ] }, { "title": "Neomorphic PDGFRA extracellular domain driver mutations are resistant to PDGFRA targeted therapies.", "journal": "Nature communications", "date": "2018", "authors": "Ip CKM, Ng PKS, Jeong KJ, Shao SH, Ju Z, Leonard PG, Hua X, Vellano CP, Woessner R, Sahni N, Scott KL, Mills GB", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "30389923", "url": "https://glygen.org/publication/PubMed/30389923" } ] }, { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "P02462", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "The tissue form of type VII collagen is an antiparallel dimer.", "journal": "The Journal of biological chemistry", "date": "1986", "authors": "Morris NP, Keene DR, Glanville RW, Bentz H, Burgeson RE", "evidence": [ { "database": "Reactome", "id": "R-HSA-2214320", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2214320" } ], "reference": [ { "type": "PubMed", "id": "3082888", "url": "https://glygen.org/publication/PubMed/3082888" } ] }, { "title": "Ripretinib (DCC-2618) Is a Switch Control Kinase Inhibitor of a Broad Spectrum of Oncogenic and Drug-Resistant KIT and PDGFRA Variants.", "journal": "Cancer cell", "date": "2019", "authors": "Smith BD, Kaufman MD, Lu WP, Gupta A, Leary CB, Wise SC, Rutkoski TJ, Ahn YM, Al-Ani G, Bulfer SL, Caldwell TM, Chun L, Ensinger CL, Hood MM, McKinley A, Patt WC, Ruiz-Soto R, Su Y, Telikepalli H, Town A, Turner BA, Vogeti L, Vogeti S, Yates K, Janku F, Abdul Razak AR, Rosen O, Heinrich MC, Flynn DL", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "31085175", "url": "https://glygen.org/publication/PubMed/31085175" } ] }, { "title": "Defective co-translational formation of disulphide bonds in protein disulphide-isomerase-deficient microsomes.", "journal": "Nature", "date": "1988", "authors": "Bulleid NJ, Freedman RB", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "3173483", "url": "https://glygen.org/publication/PubMed/3173483" } ] }, { "title": "The structural genes for alpha 1 and alpha 2 chains of human type IV collagen are divergently encoded on opposite DNA strands and have an overlapping promoter region.", "journal": "J. Biol. Chem.", "date": "1988", "authors": "Soininen R, Huotari M, Hostikka SL, Prockop DJ, Tryggvason K", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "3182844", "url": "https://glygen.org/publication/PubMed/3182844" } ] }, { "title": "Degradation of basement membranes by human matrix metalloproteinase 3 (stromelysin).", "journal": "The Biochemical journal", "date": "1988", "authors": "Bejarano PA, Noelken ME, Suzuki K, Hudson BG, Nagase H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "3223920", "url": "https://glygen.org/publication/PubMed/3223920" } ] }, { "title": "Completion of the amino acid sequence of the alpha 1 chain of human basement membrane collagen (type IV) reveals 21 non-triplet interruptions located within the collagenous domain.", "journal": "Eur. J. Biochem.", "date": "1987", "authors": "Brazel D, Oberbaumer I, Dieringer H, Babel W, Glanville RW, Deutzmann R, Kuhn K", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "3311751", "url": "https://glygen.org/publication/PubMed/3311751" } ] }, { "title": "Recognition of solubilized apoproteins from delipidated, oxidized low density lipoprotein (LDL) by the acetyl-LDL receptor.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1987", "authors": "Parthasarathy S, Fong LG, Otero D, Steinberg D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "3467373", "url": "https://glygen.org/publication/PubMed/3467373" } ] }, { "title": "Characterisation of a type-I collagen trimeric cross-linked peptide from calf aorta and its cross-linked structure. Detection of pyridinoline by time-of-flight secondary ion-mass spectroscopy and evidence for a new cross-link.", "journal": "European journal of biochemistry", "date": "1987", "authors": "Henkel W, Glanville RW, Greifendorf D", "evidence": [ { "database": "Reactome", "id": "R-HSA-2243919", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2243919" } ], "reference": [ { "type": "PubMed", "id": "3595596", "url": "https://glygen.org/publication/PubMed/3595596" } ] }, { "title": "Complete primary structure of the alpha 1-chain of human basement membrane (type IV) collagen.", "journal": "FEBS Lett.", "date": "1987", "authors": "Soininen R, Haka-Risku T, Prockop D J, Tryggvason K", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "3691802", "url": "https://glygen.org/publication/PubMed/3691802" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02462", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02462" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Interaction of fibronectin with C1q and collagen. Effects of ionic strength and denaturation of the collagenous component.", "journal": "European journal of biochemistry", "date": "1985", "authors": "Ingham KC, Landwehr R, Engel J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1474244", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474244" } ], "reference": [ { "type": "PubMed", "id": "3872795", "url": "https://glygen.org/publication/PubMed/3872795" } ] }, { "title": "Type I procollagen carboxyl-terminal proteinase from chick embryo tendons. Purification and characterization.", "journal": "The Journal of biological chemistry", "date": "1985", "authors": "Hojima Y, van der Rest M, Prockop DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "3905801", "url": "https://glygen.org/publication/PubMed/3905801" } ] }, { "title": "Structure and macromolecular organization of type VI collagen.", "journal": "Annals of the New York Academy of Sciences", "date": "1985", "authors": "Engel J, Furthmayr H, Odermatt E, von der Mark H, Aumailley M, Fleischmajer R, Timpl R", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "3938630", "url": "https://glygen.org/publication/PubMed/3938630" } ] }, { "title": "Skeletal muscle injury--molecular changes in the collagen during healing.", "journal": "Research in experimental medicine. Zeitschrift fur die gesamte experimentelle Medizin einschliesslich experimenteller Chirurgie", "date": "1985", "authors": "Lehto M, Sims TJ, Bailey AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2243919", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2243919" } ], "reference": [ { "type": "PubMed", "id": "3992061", "url": "https://glygen.org/publication/PubMed/3992061" } ] }, { "title": "Binding of laminin to type IV collagen: a morphological study.", "journal": "The Journal of cell biology", "date": "1985", "authors": "Charonis AS, Tsilibary EC, Yurchenco PD, Furthmayr H", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000157" } ], "reference": [ { "type": "PubMed", "id": "3997977", "url": "https://glygen.org/publication/PubMed/3997977" } ] }, { "title": "Amino acid sequence of the N-terminal aggregation and cross-linking region (7S domain) of the alpha 1 (IV) chain of human basement membrane collagen.", "journal": "Eur. J. Biochem.", "date": "1985", "authors": "Glanville RW, Qian RQ, Siebold B, Risteli J, Kuhn K", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "4043082", "url": "https://glygen.org/publication/PubMed/4043082" } ] }, { "title": "Lysyl oxidase.", "journal": "International review of connective tissue research", "date": "1979", "authors": "Siegel RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2243919", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2243919" } ], "reference": [ { "type": "PubMed", "id": "41816", "url": "https://glygen.org/publication/PubMed/41816" } ] }, { "title": "The cross-linking of collagen and elastin: enzymatic conversion of lysine in peptide linkage to alpha-aminoadipic-delta-semialdehyde (allysine) by an extract from bone.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1968", "authors": "Pinnell SR, Martin GR", "evidence": [ { "database": "Reactome", "id": "R-HSA-2243919", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2243919" } ], "reference": [ { "type": "PubMed", "id": "5246001", "url": "https://glygen.org/publication/PubMed/5246001" } ] }, { "title": "Isolation and structural identification of a labile intermolecular crosslink in collagen.", "journal": "Biochemical and biophysical research communications", "date": "1968", "authors": "Bailey AJ, Peach CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2243919", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2243919" } ], "reference": [ { "type": "PubMed", "id": "5723342", "url": "https://glygen.org/publication/PubMed/5723342" } ] }, { "title": "Role of lysines in mediating interaction of modified low density lipoproteins with the scavenger receptor of human monocyte macrophages.", "journal": "The Journal of biological chemistry", "date": "1984", "authors": "Haberland ME, Olch CL, Folgelman AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "6088540", "url": "https://glygen.org/publication/PubMed/6088540" } ] }, { "title": "Collagen cross-linking: lysyl oxidase dependent synthesis of pyridinoline in vitro: confirmation that pyridinoline is derived from collagen.", "journal": "Biochemical and biophysical research communications", "date": "1982", "authors": "Siegel RC, Fu JC, Uto N, Horiuchi K, Fujimoto D", "evidence": [ { "database": "Reactome", "id": "R-HSA-2243919", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2243919" } ], "reference": [ { "type": "PubMed", "id": "6129847", "url": "https://glygen.org/publication/PubMed/6129847" } ] }, { "title": "Cartilage proteoglycan binding region and link protein. Radioimmunoassays and the detection of masked determinants in aggregates.", "journal": "The Biochemical journal", "date": "1983", "authors": "Ratcliffe A, Hardingham T", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "6193777", "url": "https://glygen.org/publication/PubMed/6193777" } ] }, { "title": "The scavenger cell pathway for lipoprotein degradation: specificity of the binding site that mediates the uptake of negatively-charged LDL by macrophages.", "journal": "Journal of supramolecular structure", "date": "1980", "authors": "Brown MS, Basu SK, Falck JR, Ho YK, Goldstein JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "6255257", "url": "https://glygen.org/publication/PubMed/6255257" } ] }, { "title": "Partial purification and characterization of a neutral protease which cleaves type IV collagen.", "journal": "Biochemistry", "date": "1981", "authors": "Liotta LA, Tryggvason K, Garbisa S, Robey PG, Abe S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "6258630", "url": "https://glygen.org/publication/PubMed/6258630" } ] }, { "title": "The collagen substrate specificity of human skin fibroblast collagenase.", "journal": "The Journal of biological chemistry", "date": "1981", "authors": "Welgus HG, Jeffrey JJ, Eisen AZ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "6270089", "url": "https://glygen.org/publication/PubMed/6270089" } ] }, { "title": "Electron-microscopical approach to a structural model of intima collagen.", "journal": "The Biochemical journal", "date": "1983", "authors": "Furthmayr H, Wiedemann H, Timpl R, Odermatt E, Engel J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "6307276", "url": "https://glygen.org/publication/PubMed/6307276" } ] }, { "title": "Pyridinoline, a non-reducible crosslink of collagen. Quantitative determination, distribution, and isolation of a crosslinked peptide.", "journal": "Journal of biochemistry", "date": "1978", "authors": "Fujimoto D, Moriguchi T", "evidence": [ { "database": "Reactome", "id": "R-HSA-2243919", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2243919" } ], "reference": [ { "type": "PubMed", "id": "641035", "url": "https://glygen.org/publication/PubMed/641035" } ] }, { "title": "Structure of human-basement-membrane (type IV) collagen. Complete amino-acid sequence of a 914-residue-long pepsin fragment from the alpha 1(IV) chain.", "journal": "European journal of biochemistry", "date": "1984", "authors": "Babel W, Glanville RW", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "reference": [ { "type": "PubMed", "id": "6434307", "url": "https://glygen.org/publication/PubMed/6434307" } ] }, { "title": "Specific inhibition of type I and type II collagen fibrillogenesis by the small proteoglycan of tendon.", "journal": "The Biochemical journal", "date": "1984", "authors": "Vogel KG, Paulsson M, Heinegard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "6439184", "url": "https://glygen.org/publication/PubMed/6439184" } ] }, { "title": "Type VIII collagen. Synthesis by normal and malignant cells in culture.", "journal": "Laboratory investigation; a journal of technical methods and pathology", "date": "1984", "authors": "Sage H, Balian G, Vogel AM, Bornstein P", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "6694361", "url": "https://glygen.org/publication/PubMed/6694361" } ] }, { "title": "Human lysyl hydroxylase: purification to homogeneity, partial characterization and comparison of catalytic properties with those of a mutant enzyme from Ehlers-Danlos syndrome type VI fibroblasts.", "journal": "Collagen and related research", "date": "1981", "authors": "Turpeenniemi-Hujanen TM, Puistola U, Kivirikko KI", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "6809411", "url": "https://glygen.org/publication/PubMed/6809411" } ] }, { "title": "The role of cis-trans isomerization of peptide bonds in the coil leads to and comes from triple helix conversion of collagen.", "journal": "European journal of biochemistry", "date": "1978", "authors": "Bachinger HP, Bruckner P, Timpl R, Engel J", "evidence": [ { "database": "Reactome", "id": "R-HSA-8948216", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8948216" } ], "reference": [ { "type": "PubMed", "id": "710450", "url": "https://glygen.org/publication/PubMed/710450" } ] }, { "title": "Binding of tenascin-C to soluble fibronectin and matrix fibrils.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Chung CY, Zardi L, Erickson HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7499434", "url": "https://glygen.org/publication/PubMed/7499434" } ] }, { "title": "Solid-phase von Willebrand factor contains a conformationally active RGD motif that mediates endothelial cell adhesion through the alpha v beta 3 receptor.", "journal": "Blood", "date": "1993", "authors": "Denis C, Williams JA, Lu X, Meyer D, Baruch D", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "7505120", "url": "https://glygen.org/publication/PubMed/7505120" } ] }, { "title": "Integrin alpha v beta 8. Interaction with vitronectin and functional divergence of the beta 8 cytoplasmic domain.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Nishimura SL, Sheppard D, Pytela R", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "7525578", "url": "https://glygen.org/publication/PubMed/7525578" } ] }, { "title": "Tenascin-R (J1 160/180 inhibits fibronectin-mediated cell adhesion--functional relatedness to tenascin-C.", "journal": "Journal of cell science", "date": "1994", "authors": "Pesheva P, Probstmeier R, Skubitz AP, McCarthy JB, Furcht LT, Schachner M", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7527058", "url": "https://glygen.org/publication/PubMed/7527058" } ] }, { "title": "The integrin receptor alpha 8 beta 1 mediates interactions of embryonic chick motor and sensory neurons with tenascin-C.", "journal": "Neuron", "date": "1995", "authors": "Varnum-Finney B, Venstrom K, Muller U, Kypta R, Backus C, Chiquet M, Reichardt LF", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "7541634", "url": "https://glygen.org/publication/PubMed/7541634" } ] }, { "title": "CD31/PECAM-1 is a ligand for alpha v beta 3 integrin involved in adhesion of leukocytes to endothelium.", "journal": "The Journal of cell biology", "date": "1995", "authors": "Piali L, Hammel P, Uherek C, Bachmann F, Gisler RH, Dunon D, Imhof BA", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "7542249", "url": "https://glygen.org/publication/PubMed/7542249" } ] }, { "title": "Alpha v beta 1 is a receptor for vitronectin and fibrinogen, and acts with alpha 5 beta 1 to mediate spreading on fibronectin.", "journal": "Journal of cell science", "date": "1995", "authors": "Marshall JF, Rutherford DC, McCartney AC, Mitjans F, Goodman SL, Hart IR", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7542669", "url": "https://glygen.org/publication/PubMed/7542669" } ] }, { "title": "The human integrin alpha 8 beta 1 functions as a receptor for tenascin, fibronectin, and vitronectin.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Schnapp LM, Hatch N, Ramos DM, Klimanskaya IV, Sheppard D, Pytela R", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7559467", "url": "https://glygen.org/publication/PubMed/7559467" } ] }, { "title": "Macrophage scavenger receptor mediates the endocytic uptake and degradation of advanced glycation end products of the Maillard reaction.", "journal": "European journal of biochemistry", "date": "1995", "authors": "Araki N, Higashi T, Mori T, Shibayama R, Kawabe Y, Kodama T, Takahashi K, Shichiri M, Horiuchi S", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "7607209", "url": "https://glygen.org/publication/PubMed/7607209" } ] }, { "title": "The alpha v beta 5 integrin receptor regulates receptor-mediated endocytosis of vitronectin.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Panetti TS, McKeown-Longo PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7685013", "url": "https://glygen.org/publication/PubMed/7685013" } ] }, { "title": "Endothelial cell attachment and spreading on human tenascin is mediated by alpha 2 beta 1 and alpha v beta 3 integrins.", "journal": "Journal of cell science", "date": "1993", "authors": "Sriramarao P, Mendler M, Bourdon MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7693733", "url": "https://glygen.org/publication/PubMed/7693733" } ] }, { "title": "Interaction of biglycan with type I collagen.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Schonherr E, Witsch-Prehm P, Harrach B, Robenek H, Rauterberg J, Kresse H", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7852349", "url": "https://glygen.org/publication/PubMed/7852349" } ] }, { "title": "Matrix metalloproteinase-2 is an interstitial collagenase. Inhibitor-free enzyme catalyzes the cleavage of collagen fibrils and soluble native type I collagen generating the specific 3/4- and 1/4-length fragments.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Aimes RT, Quigley JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "7890717", "url": "https://glygen.org/publication/PubMed/7890717" } ] }, { "title": "The expression of functional link protein in a baculovirus system: analysis of mutants lacking the A, B and B' domains.", "journal": "The Biochemical journal", "date": "1994", "authors": "Grover J, Roughley PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "8002934", "url": "https://glygen.org/publication/PubMed/8002934" } ] }, { "title": "Platelet adhesion to collagen types I through VIII under conditions of stasis and flow is mediated by GPIa/IIa (alpha 2 beta 1-integrin).", "journal": "Blood", "date": "1994", "authors": "Saelman EU, Nieuwenhuis HK, Hese KM, de Groot PG, Heijnen HF, Sage EH, Williams S, McKeown L, Gralnick HR, Sixma JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "8118028", "url": "https://glygen.org/publication/PubMed/8118028" } ] }, { "title": "The type I macrophage scavenger receptor binds to gram-positive bacteria and recognizes lipoteichoic acid.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Dunne DW, Resnick D, Greenberg J, Krieger M, Joiner KA", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "8127896", "url": "https://glygen.org/publication/PubMed/8127896" } ] }, { "title": "Tissue-specific expression of the fibril-associated collagens XII and XIV.", "journal": "Journal of cell science", "date": "1994", "authors": "Walchli C, Koch M, Chiquet M, Odermatt BF, Trueb B", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022090", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022090" } ], "reference": [ { "type": "PubMed", "id": "8207089", "url": "https://glygen.org/publication/PubMed/8207089" } ] }, { "title": "Demonstration of (Ca(2+)-Mg2+)-ATPase activity of the neural cell adhesion molecule.", "journal": "FEBS letters", "date": "1993", "authors": "Dzhandzhugazyan K, Bock E", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "8262246", "url": "https://glygen.org/publication/PubMed/8262246" } ] }, { "title": "Interaction of type IV collagen with the isolated integrins alpha 1 beta 1 and alpha 2 beta 1.", "journal": "European journal of biochemistry", "date": "1993", "authors": "Kern A, Eble J, Golbik R, Kuhn K", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "8344274", "url": "https://glygen.org/publication/PubMed/8344274" } ] }, { "title": "Polynucleotide binding to macrophage scavenger receptors depends on the formation of base-quartet-stabilized four-stranded helices.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Pearson AM, Rich A, Krieger M", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "8429030", "url": "https://glygen.org/publication/PubMed/8429030" } ] }, { "title": "Interaction of heparin cofactor II with biglycan and decorin.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Whinna HC, Choi HU, Rosenberg LC, Church FC", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "8440685", "url": "https://glygen.org/publication/PubMed/8440685" } ] }, { "title": "Role of zinc-binding- and hemopexin domain-encoded sequences in the substrate specificity of collagenase and stromelysin-2 as revealed by chimeric proteins.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Sanchez-Lopez R, Alexander CM, Behrendtsen O, Breathnach R, Werb Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "8463259", "url": "https://glygen.org/publication/PubMed/8463259" } ] }, { "title": "Receptor-ligand interaction between CD44 and osteopontin (Eta-1).", "journal": "Science (New York, N.Y.)", "date": "1996", "authors": "Weber GF, Ashkar S, Glimcher MJ, Cantor H", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "8560266", "url": "https://glygen.org/publication/PubMed/8560266" } ] }, { "title": "Biochemical characterization of human collagenase-3.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Knauper V, Lopez-Otin C, Smith B, Knight G, Murphy G", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "8576151", "url": "https://glygen.org/publication/PubMed/8576151" } ] }, { "title": "Metalloproteinase activity secreted by fibrogenic cells in the processing of prolysyl oxidase. Potential role of procollagen C-proteinase.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Panchenko MV, Stetler-Stevenson WG, Trubetskoy OV, Gacheru SN, Kagan HM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2243919", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2243919" } ], "reference": [ { "type": "PubMed", "id": "8636146", "url": "https://glygen.org/publication/PubMed/8636146" } ] }, { "title": "Scavenger receptor-mediated adhesion of microglia to beta-amyloid fibrils.", "journal": "Nature", "date": "1996", "authors": "El Khoury J, Hickman SE, Thomas CA, Cao L, Silverstein SC, Loike JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "8751442", "url": "https://glygen.org/publication/PubMed/8751442" } ] }, { "title": "Binding studies of a triple-helical peptide model of macrophage scavenger receptor to tetraplex nucleic acids.", "journal": "Biochemistry", "date": "1996", "authors": "Mielewczyk SS, Breslauer KJ, Anachi RB, Brodsky B", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "8784195", "url": "https://glygen.org/publication/PubMed/8784195" } ] }, { "title": "Differential effects of the integrins alpha9beta1, alphavbeta3, and alphavbeta6 on cell proliferative responses to tenascin. Roles of the beta subunit extracellular and cytoplasmic domains.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Yokosaki Y, Monis H, Chen J, Sheppard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "8798654", "url": "https://glygen.org/publication/PubMed/8798654" } ] }, { "title": "Identification of alpha v beta 3 as a heterotypic ligand for CD31/PECAM-1.", "journal": "Journal of cell science", "date": "1996", "authors": "Buckley CD, Doyonnas R, Newton JP, Blystone SD, Brown EJ, Watt SM, Simmons DL", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "8838667", "url": "https://glygen.org/publication/PubMed/8838667" } ] }, { "title": "Type I, II, III, IV, V, and VI collagens serve as extracellular ligands for the isoforms of platelet-derived growth factor (AA, BB, and AB).", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Somasundaram R, Schuppan D", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "8900172", "url": "https://glygen.org/publication/PubMed/8900172" } ] }, { "title": "Osteopontin N-terminal domain contains a cryptic adhesive sequence recognized by alpha9beta1 integrin.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Smith LL, Cheung HK, Ling LE, Chen J, Sheppard D, Pytela R, Giachelli CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "8910476", "url": "https://glygen.org/publication/PubMed/8910476" } ] }, { "title": "Macrophage metalloelastase degrades matrix and myelin proteins and processes a tumour necrosis factor-alpha fusion protein.", "journal": "Biochemical and biophysical research communications", "date": "1996", "authors": "Chandler S, Cossins J, Lury J, Wells G", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "8920930", "url": "https://glygen.org/publication/PubMed/8920930" } ] }, { "title": "Interaction of cartilage matrix protein with aggrecan. Increased covalent cross-linking with tissue maturation.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Hauser N, Paulsson M, Heinegard D, Morgelin M", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "8943283", "url": "https://glygen.org/publication/PubMed/8943283" } ] }, { "title": "Membrane type 1 matrix metalloproteinase digests interstitial collagens and other extracellular matrix macromolecules.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Ohuchi E, Imai K, Fujii Y, Sato H, Seiki M, Okada Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "8999957", "url": "https://glygen.org/publication/PubMed/8999957" } ] }, { "title": "Endostatin: an endogenous inhibitor of angiogenesis and tumor growth.", "journal": "Cell", "date": "1997", "authors": "O'Reilly MS, Boehm T, Shing Y, Fukai N, Vasios G, Lane WS, Flynn E, Birkhead JR, Olsen BR, Folkman J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022090", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022090" } ], "reference": [ { "type": "PubMed", "id": "9008168", "url": "https://glygen.org/publication/PubMed/9008168" } ] }, { "title": "Cloning and characterization of a novel human lysyl hydroxylase isoform highly expressed in pancreas and muscle.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Valtavaara M, Papponen H, Pirttila AM, Hiltunen K, Helander H, Myllyla R", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "9054364", "url": "https://glygen.org/publication/PubMed/9054364" } ] }, { "title": "Expression of three membrane-type matrix metalloproteinases (MT-MMPs) in rat vascular smooth muscle cells and characterization of MT3-MMPs with and without transmembrane domain.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Shofuda K, Yasumitsu H, Nishihashi A, Miki K, Miyazaki K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "9092507", "url": "https://glygen.org/publication/PubMed/9092507" } ] }, { "title": "Endocytic uptake of lysophosphatidylcholine mediated by macrophage scavenger receptor plays a major role in oxidized low density lipoprotein-induced macrophage growth.", "journal": "Journal of atherosclerosis and thrombosis", "date": "1996", "authors": "Sakai M, Miyazaki A, Hakamata H, Kobori S, Shichiri M, Horiuchi S", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "9225214", "url": "https://glygen.org/publication/PubMed/9225214" } ] }, { "title": "Laminin 5 binds the NC-1 domain of type VII collagen.", "journal": "The Journal of cell biology", "date": "1997", "authors": "Rousselle P, Keene DR, Ruggiero F, Champliaud MF, Rest M, Burgeson RE", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000157" } ], "reference": [ { "type": "PubMed", "id": "9245798", "url": "https://glygen.org/publication/PubMed/9245798" } ] }, { "title": "The alpha v beta 3 integrin `vitronectin receptor`.", "journal": "The international journal of biochemistry & cell biology", "date": "1997", "authors": "Horton MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "9251239", "url": "https://glygen.org/publication/PubMed/9251239" } ] }, { "title": "Localization of a binding site for the proteoglycan decorin on collagen XIV (undulin).", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Ehnis T, Dieterich W, Bauer M, Kresse H, Schuppan D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "9252349", "url": "https://glygen.org/publication/PubMed/9252349" } ] }, { "title": "The C-type lectin domains of lecticans, a family of aggregating chondroitin sulfate proteoglycans, bind tenascin-R by protein-protein interactions independent of carbohydrate moiety.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "Aspberg A, Miura R, Bourdoulous S, Shimonaka M, Heinegard D, Schachner M, Ruoslahti E, Yamaguchi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "9294172", "url": "https://glygen.org/publication/PubMed/9294172" } ] }, { "title": "Interaction of platelet-derived growth factor with thrombospondin 1.", "journal": "The Biochemical journal", "date": "1997", "authors": "Hogg PJ, Hotchkiss KA, Jimenez BM, Stathakis P, Chesterman CN", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "9334164", "url": "https://glygen.org/publication/PubMed/9334164" } ] }, { "title": "Mapping of a defined neurocan binding site to distinct domains of tenascin-C.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Rauch U, Clement A, Retzler C, Frohlich L, Fassler R, Gohring W, Faissner A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "9341124", "url": "https://glygen.org/publication/PubMed/9341124" } ] }, { "title": "Identification of hyaluronan-binding domains of aggrecan.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Watanabe H, Cheung SC, Itano N, Kimata K, Yamada Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "9346959", "url": "https://glygen.org/publication/PubMed/9346959" } ] }, { "title": "Demonstration of an extracellular ATP-binding site in NCAM: functional implications of nucleotide binding.", "journal": "Biochemistry", "date": "1997", "authors": "Dzhandzhugazyan K, Bock E", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "9398268", "url": "https://glygen.org/publication/PubMed/9398268" } ] }, { "title": "The alphavbeta5 integrin functions as an endocytic receptor for vitronectin.", "journal": "Journal of cell science", "date": "1998", "authors": "Memmo LM, McKeown-Longo P", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "9443892", "url": "https://glygen.org/publication/PubMed/9443892" } ] }, { "title": "Evidence that the lipid moiety of oxidized low density lipoprotein plays a role in its interaction with macrophage receptors.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Terpstra V, Bird DA, Steinberg D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "9465098", "url": "https://glygen.org/publication/PubMed/9465098" } ] }, { "title": "Structure of the human macrophage MARCO receptor and characterization of its bacteria-binding region.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Elomaa O, Sankala M, Pikkarainen T, Bergmann U, Tuuttila A, Raatikainen-Ahokas A, Sariola H, Tryggvason K", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "9468508", "url": "https://glygen.org/publication/PubMed/9468508" } ] }, { "title": "Histidinohydroxylysinonorleucine, a trifunctional cross-link of type I collagen, in sun-exposed and sun-protected human skin.", "journal": "The British journal of dermatology", "date": "1997", "authors": "Okada K, Kondo A, Ishikawa O, Miyachi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-2243919", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2243919" } ], "reference": [ { "type": "PubMed", "id": "9470928", "url": "https://glygen.org/publication/PubMed/9470928" } ] }, { "title": "Scavenger receptors mediate adhesion of activated B lymphocytes.", "journal": "Experimental cell research", "date": "1998", "authors": "Yokota T, Ehlin-Henriksson B, Hansson GK", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "9511720", "url": "https://glygen.org/publication/PubMed/9511720" } ] }, { "title": "Protein disulfide isomerase acts as a molecular chaperone during the assembly of procollagen.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Wilson R, Lees JF, Bulleid NJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "9545296", "url": "https://glygen.org/publication/PubMed/9545296" } ] }, { "title": "A naturally occurring isoform of the human macrophage scavenger receptor (SR-A) gene generated by alternative splicing blocks modified LDL uptake.", "journal": "Journal of lipid research", "date": "1998", "authors": "Gough PJ, Greaves DR, Gordon S", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "9548586", "url": "https://glygen.org/publication/PubMed/9548586" } ] }, { "title": "Thiol-independent interaction of protein disulphide isomerase with type X collagen during intra-cellular folding and assembly.", "journal": "The Biochemical journal", "date": "1998", "authors": "McLaughlin SH, Bulleid NJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "9560306", "url": "https://glygen.org/publication/PubMed/9560306" } ] }, { "title": "Identification of the ligand binding site for the integrin alpha9 beta1 in the third fibronectin type III repeat of tenascin-C.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Yokosaki Y, Matsuura N, Higashiyama S, Murakami I, Obara M, Yamakido M, Shigeto N, Chen J, Sheppard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "9565552", "url": "https://glygen.org/publication/PubMed/9565552" } ] }, { "title": "Primary structure, tissue distribution, and chromosomal localization of a novel isoform of lysyl hydroxylase (lysyl hydroxylase 3)", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Valtavaara M, Szpirer C, Szpirer J, Myllyla R", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "9582318", "url": "https://glygen.org/publication/PubMed/9582318" } ] }, { "title": "Human colonic cancer cells synthesize and adhere to laminin-5. Their adhesion to laminin-5 involves multiple receptors among which is integrin alpha2beta1.", "journal": "Journal of cell science", "date": "1998", "authors": "Orian-Rousseau V, Aberdam D, Rousselle P, Messent A, Gavrilovic J, Meneguzzi G, Kedinger M, Simon-Assmann P", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000157" } ], "reference": [ { "type": "PubMed", "id": "9645947", "url": "https://glygen.org/publication/PubMed/9645947" } ] }, { "title": "Cloning and characterization of a novel matrix metalloproteinase (MMP), CMMP, from chicken embryo fibroblasts. CMMP, Xenopus XMMP, and human MMP19 have a conserved unique cysteine in the catalytic domain.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Yang M, Kurkinen M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "9651395", "url": "https://glygen.org/publication/PubMed/9651395" } ] }, { "title": "The discoidin domain receptor tyrosine kinases are activated by collagen.", "journal": "Molecular cell", "date": "1997", "authors": "Vogel W, Gish GD, Alves F, Pawson T", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000171" } ], "reference": [ { "type": "PubMed", "id": "9659899", "url": "https://glygen.org/publication/PubMed/9659899" } ] }, { "title": "An orphan receptor tyrosine kinase family whose members serve as nonintegrin collagen receptors.", "journal": "Molecular cell", "date": "1997", "authors": "Shrivastava A, Radziejewski C, Campbell E, Kovac L, McGlynn M, Ryan TE, Davis S, Goldfarb MP, Glass DJ, Lemke G, Yancopoulos GD", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000171" } ], "reference": [ { "type": "PubMed", "id": "9659900", "url": "https://glygen.org/publication/PubMed/9659900" } ] }, { "title": "Cartilage oligomeric matrix protein shows high affinity zinc-dependent interaction with triple helical collagen.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Rosenberg K, Olsson H, Morgelin M, Heinegard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "9685393", "url": "https://glygen.org/publication/PubMed/9685393" } ] }, { "title": "Signal transduction via platelet-derived growth factor receptors.", "journal": "Biochimica et biophysica acta", "date": "1998", "authors": "Heldin CH, Ostman A, Ronnstrand L", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "9739761", "url": "https://glygen.org/publication/PubMed/9739761" } ] }, { "title": "Interaction of BP180 (type XVII collagen) and alpha6 integrin is necessary for stabilization of hemidesmosome structure.", "journal": "The Journal of investigative dermatology", "date": "1998", "authors": "Hopkinson SB, Findlay K, deHart GW, Jones JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022090", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022090" } ], "reference": [ { "type": "PubMed", "id": "9856810", "url": "https://glygen.org/publication/PubMed/9856810" } ] }, { "title": "Effect of the interaction between fibronectin and VLA-4 on the proliferation of human B cells, especially a novel human B-cell line, OPM-3.", "journal": "British journal of haematology", "date": "1998", "authors": "Yoshida H, Nishiura T, Karasuno T, Matsumura I, Ishikawa J, Yoshimura M, Yokota T, Okajima Y, Ogawa M, Kanakura Y, Tomiyama Y, Matsuzawa Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "9858236", "url": "https://glygen.org/publication/PubMed/9858236" } ] }, { "title": "Tenascin-C inhibits beta1 integrin-dependent cell adhesion and neurite outgrowth on fibronectin by a disialoganglioside-mediated signaling mechanism.", "journal": "Glycobiology", "date": "1999", "authors": "Probstmeier R, Pesheva P", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "9949188", "url": "https://glygen.org/publication/PubMed/9949188" } ] } ], "pathway": [ { "id": "R-HSA-1442490", "name": "Collagen degradation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490", "resource": "Reactome", "description": "Collagen degradation" }, { "id": "R-HSA-1474244", "name": "Extracellular matrix organization", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474244", "resource": "Reactome", "description": "Extracellular matrix organization" }, { "id": "R-HSA-1650814", "name": "Collagen biosynthesis and modifying enzymes", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814", "resource": "Reactome", "description": "Collagen biosynthesis and modifying enzymes" }, { "id": "R-HSA-186797", "name": "Signaling by PDGF", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797", "resource": "Reactome", "description": "Signaling by PDGF" }, { "id": "R-HSA-2022090", "name": "Assembly of collagen fibrils and other multimeric structures", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022090", "resource": "Reactome", "description": "Assembly of collagen fibrils and other multimeric structures" }, { "id": "R-HSA-216083", "name": "Integrin cell surface interactions", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083", "resource": "Reactome", "description": "Integrin cell surface interactions" }, { "id": "R-HSA-2214320", "name": "Anchoring fibril formation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2214320", "resource": "Reactome", "description": "Anchoring fibril formation" }, { "id": "R-HSA-2243919", "name": "Crosslinking of collagen fibrils", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2243919", "resource": "Reactome", "description": "Crosslinking of collagen fibrils" }, { "id": "R-HSA-3000157", "name": "Laminin interactions", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000157", "resource": "Reactome", "description": "Laminin interactions" }, { "id": "R-HSA-3000171", "name": "Non-integrin membrane-ECM interactions", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000171", "resource": "Reactome", "description": "Non-integrin membrane-ECM interactions" }, { "id": "R-HSA-3000178", "name": "ECM proteoglycans", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178", "resource": "Reactome", "description": "ECM proteoglycans" }, { "id": "R-HSA-3000480", "name": "Scavenging by Class A Receptors", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480", "resource": "Reactome", "description": "Scavenging by Class A Receptors" }, { "id": "R-HSA-419037", "name": "NCAM1 interactions", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037", "resource": "Reactome", "description": "NCAM1 interactions" }, { "id": "R-HSA-8948216", "name": "Collagen chain trimerization", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8948216", "resource": "Reactome", "description": "Collagen chain trimerization" } ], "orthologs": [ { "uniprot_canonical_ac": "F1MA59-1", "protein_name": "Collagen type IV alpha 1 chain", "gene_name": "Col4a1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGPRLSVWLLLPLAALLLHEERSRAAAKGDCGGSGCGKCDCHGVKGQKGERGFPGLQGVIGFPGMQGPEGPHGPPGQKGDAGEPGLPGTKGTRGPPGAAGYPGNPGLPGIPGQDGPPGPPGIPGCNGTKGERGPLGPPGLPGFSGNPGPPGLPGMKGDPGEILGHVPGTLLKGERGFPGIPGAPGSPGLPGLQGPVGPPGFTGPPGPPGPPGPPGEKGQMGSSFQGPKGDKGEQGVSGPPGVPGQAQVKEKGDFAPTGEKGQKGEPGFQGTPGYGEKGEPGKPGPRGKPGKDGEKGEKGSPGFPGESGYPGLPGRQGPQGEKGEPGLPGPPGTVVGTRPLGEKGERGYPGSPGLRGEPGPKGYPGSPGQPGPPGFAVPGQTGAPGFPGERGEKGERGSPGVSLPGPSGRDGAPGPPGPPGPPGQPGHTNGIVECQPGPPGDQGPPGIPGQPGLTGEVGQKGQKGESCLACDTEGLRGPPGPQGPPGEIGFPGQPGAKGDRGLPGRDGLEGLPGPQGSPGLIGQPGAKGEPGEIFFDMRLKGDKGDPGFPGQPGMPGRAGTPGRDGHPGLPGPKGSPGSIGLKGERGPPGGVGFPGSRGDIGPPGPPGVGPIGPIGEKGQAGLPGGPGSPGLPGPKGEAGKVVPLPGPPGAAGLPGSPGFPGPQGDRGFPGTPGRPGNPGEKGAVGQPGIGFPGLPGPKGVDGLPGEIGRPGSPGRPGFNGLPGNPGPQGQKGEPGIGLPGLKGQPGLPGIPGTPGEKGSIGGPGVPGEQGLTGPPGLQGIRGDPGPPGVQGPAGPPGVPGIGPPGAMGPPGGQGPPGSSGPPGVKGEKGFPGFPGLDMPGPKGDKGSQGLPGLTGQSGLPGLPGQQGTPGVPGFPGSKGEMGVMGTPGQPGSPGPAGAPGLPGEKGDHGFPGSSGPRGDPGFKGDKGDVGLPGMPGSMEHVDMGSMKGQKGDQGEKGQIGPTGDKGSRGDPGTPGVPGKDGQAGHPGQPGPKGDPGLSGIPGSPGLPGPKGSVGGMGLPGSPGEKGVPGIPGSQGVPGSPGEKGAKGEKGQSGLPGIGIPGRPGDKGDQGLAGFPGSPGEKGEKGSAGTPGMPGSPGPRGSPGNIGHPGSPGLPGEKGDKGLPGLDGVPGVKGEAGLPGTPGPTGPAGQKGEPGSDGIPGSAGEKGEQGLPGRGFPGFPGTKGDKGSKGEVGFPGLAGSPGIPGAKGEQGFMGPPGPQGQPGLPGTPGHPVEGPKGDRGPQGQPGLPGHPGPMGPPGFPGIDGPKGDKGNPGWPGAPGAPGPKGDPGFQGMPGIGGSPGITGSKGDMGPPGVPGFQGQKGLPGLQGVKGDQGDQGIPGPKGLQGPPGPPGPYDVIKGEPGLPGPEGPPGLKGLQGPPGPKGQQGVTGSVGLPGPPGVPGFDGAPGQKGETGPFGPPGPRGFPGPPGPDGLPGSMGPPGTPSVDHGFLVTRHSQTTDDPLCPPGTKILYHGYSLLYVQGNERAHGQDLGTAGSCLRKFSTMPFLFCNINNVCNFASRNDYSYWLSTPEPMPMSMAPISGDNIRPFISRCAVCEAPAMVMAVHSQTIQIPQCPNGWSSLWIGYSFVMHTSAGAEGSGQALASPGSCLEEFRSAPFIECHGRGTCNYYANAYSFWLATIERSEMFKKPTPSTLKAGELRTHVSRCQVCMRRT", "length": 1669 }, "evidence": [ { "id": "45922947", "url": "http://www.informatics.jax.org/homology/45922947", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P02463-1", "protein_name": "Collagen alpha-1(IV) chain", "gene_name": "Col4a1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MGPRLSVWLLLLFAALLLHEERSRAAAKGDCGGSGCGKCDCHGVKGQKGERGLPGLQGVIGFPGMQGPEGPHGPPGQKGDAGEPGLPGTKGTRGPPGAAGYPGNPGLPGIPGQDGPPGPPGIPGCNGTKGERGPLGPPGLPGFSGNPGPPGLPGMKGDPGEILGHVPGTLLKGERGFPGIPGMPGSPGLPGLQGPVGPPGFTGPPGPPGPPGPPGEKGQMGSSFQGPKGDKGEQGVSGPPGVPGQAQVKEKGDFAPTGEKGQKGEPGFPGVPGYGEKGEPGKQGPRGKPGKDGEKGERGSPGIPGDSGYPGLPGRQGPQGEKGEAGLPGPPGTVIGTMPLGEKGDRGYPGAPGLRGEPGPKGFPGTPGQPGPPGFPTPGQAGAPGFPGERGEKGDQGFPGVSLPGPSGRDGAPGPPGPPGPPGQPGHTNGIVECQPGPPGDQGPPGTPGQPGLTGEVGQKGQKGESCLACDTEGLRGPPGPQGPPGEIGFPGQPGAKGDRGLPGRDGLEGLPGPQGSPGLIGQPGAKGEPGEIFFDMRLKGDKGDPGFPGQPGMPGRAGTPGRDGHPGLPGPKGSPGSIGLKGERGPPGGVGFPGSRGDIGPPGPPGVGPIGPVGEKGQAGFPGGPGSPGLPGPKGEAGKVVPLPGPPGAAGLPGSPGFPGPQGDRGFPGTPGRPGIPGEKGAVGQPGIGFPGLPGPKGVDGLPGEIGRPGSPGRPGFNGLPGNPGPQGQKGEPGIGLPGLKGQPGLPGIPGTPGEKGSIGGPGVPGEQGLTGPPGLQGIRGDPGPPGVQGPAGPPGVPGIGPPGAMGPPGGQGPPGSSGPPGIKGEKGFPGFPGLDMPGPKGDKGSQGLPGLTGQSGLPGLPGQQGTPGVPGFPGSKGEMGVMGTPGQPGSPGPAGTPGLPGEKGDHGLPGSSGPRGDPGFKGDKGDVGLPGMPGSMEHVDMGSMKGQKGDQGEKGQIGPTGDKGSRGDPGTPGVPGKDGQAGHPGQPGPKGDPGLSGTPGSPGLPGPKGSVGGMGLPGSPGEKGVPGIPGSQGVPGSPGEKGAKGEKGQSGLPGIGIPGRPGDKGDQGLAGFPGSPGEKGEKGSAGTPGMPGSPGPRGSPGNIGHPGSPGLPGEKGDKGLPGLDGVPGVKGEAGLPGTPGPTGPAGQKGEPGSDGIPGSAGEKGEQGVPGRGFPGFPGSKGDKGSKGEVGFPGLAGSPGIPGVKGEQGFMGPPGPQGQPGLPGTPGHPVEGPKGDRGPQGQPGLPGHPGPMGPPGFPGINGPKGDKGNQGWPGAPGVPGPKGDPGFQGMPGIGGSPGITGSKGDMGLPGVPGFQGQKGLPGLQGVKGDQGDQGVPGPKGLQGPPGPPGPYDVIKGEPGLPGPEGPPGLKGLQGPPGPKGQQGVTGSVGLPGPPGVPGFDGAPGQKGETGPFGPPGPRGFPGPPGPDGLPGSMGPPGTPSVDHGFLVTRHSQTTDDPLCPPGTKILYHGYSLLYVQGNERAHGQDLGTAGSCLRKFSTMPFLFCNINNVCNFASRNDYSYWLSTPEPMPMSMAPISGDNIRPFISRCAVCEAPAMVMAVHSQTIQIPQCPNGWSSLWIGYSFVMHTSAGAEGSGQALASPGSCLEEFRSAPFIECHGRGTCNYYANAYSFWLATIERSEMFKKPTPSTLKAGELRTHVSRCQVCMRRT", "length": 1669 }, "evidence": [ { "id": "45922947", "url": "http://www.informatics.jax.org/homology/45922947", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 8, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "pmid": "" }, { "name": "collagen type IV trimer", "id": "GO:0005587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005587", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "pmid": "" }, { "name": "collagen-containing extracellular matrix", "id": "GO:0062023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "pmid": "" }, { "name": "collagen trimer", "id": "GO:0005581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005581", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 11, "go_terms": [ { "name": "neuromuscular junction development", "id": "GO:0007528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007528", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "pmid": "" }, { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "pmid": "" }, { "name": "blood vessel morphogenesis", "id": "GO:0048514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048514", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "pmid": "" }, { "name": "branching involved in blood vessel morphogenesis", "id": "GO:0001569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001569", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "pmid": "" }, { "name": "cellular response to amino acid stimulus", "id": "GO:0071230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071230", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "pmid": "" }, { "name": "collagen-activated tyrosine kinase receptor signaling pathway", "id": "GO:0038063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038063", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "pmid": "" }, { "name": "retinal blood vessel morphogenesis", "id": "GO:0061304", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061304", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "pmid": "" }, { "name": "renal tubule morphogenesis", "id": "GO:0061333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061333", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "pmid": "" }, { "name": "basement membrane organization", "id": "GO:0071711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071711", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "extracellular matrix structural constituent", "id": "GO:0005201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005201", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "pmid": "" }, { "name": "extracellular matrix structural constituent conferring tensile strength", "id": "GO:0030020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030020", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "pmid": "" }, { "name": "platelet-derived growth factor binding", "id": "GO:0048407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048407", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "collagen alpha-1(IV) chain O-glycosylated 1 (human)", "definition": "A collagen alpha-1(IV) chain (human) that has been O-glycosylated at the residue equivalent to Ser-1532 of the amino acid sequence represented by UniProtKB:P02462-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02462-1, Ser-1532, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000052482", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052482" } ] }, { "name": "collagen alpha-1(IV) chain O-glycosylated 2 (human)", "definition": "A collagen alpha-1(IV) chain (human) that has been O-glycosylated at the residue equivalent to Thr-1525 of the amino acid sequence represented by UniProtKB:P02462-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02462-1, Thr-1525, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000052483", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052483" } ] } ], "site_annotation": [ { "start_pos": 126, "end_pos": 128, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Contains 4-hydroxyproline (Probable). Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" }, { "database": "PubMed", "id": "6434307", "url": "https://glygen.org/publication/PubMed/6434307" } ] }, { "annotation": "Lysines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated. The modified lysines can be O-glycosylated.", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" }, { "database": "PubMed", "id": "6434307", "url": "https://glygen.org/publication/PubMed/6434307" } ] }, { "annotation": "Proteolytic processing produces the C-terminal NC1 peptide, arresten.", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" }, { "database": "PubMed", "id": "10811134", "url": "https://glygen.org/publication/PubMed/10811134" } ] }, { "annotation": "The trimeric structure of the NC1 domains is stabilized by covalent bonds (sulfilimine cross-links) between Lys and Met residues (PubMed:12011424). These cross-links are important for the mechanical stability of the basement membrane (By similarity). Sulfilimine cross-link is catalyzed by PXDN (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" }, { "database": "PubMed", "id": "12011424", "url": "https://glygen.org/publication/PubMed/12011424" } ] }, { "annotation": "Type IV collagens contain numerous cysteine residues which are involved in inter- and intramolecular disulfide bonding (PubMed:2844531). 12 of these, located in the NC1 domain, are conserved in all known type IV collagens.", "evidence": [ { "database": "UniProtKB", "id": "P02462", "url": "https://www.uniprot.org/uniprot/P02462" }, { "database": "PubMed", "id": "2844531", "url": "https://glygen.org/publication/PubMed/2844531" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 126 ], "o_linked_sites": [ 1095, 1525, 1532 ], "snv_sites": [ 126, 715, 757, 758, 1095, 1229, 1514, 1525, 1542 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 126, "end_pos": 128 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 9 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 332 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }