[ { "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", "reference": { "type": "PubMed", "id": "19911804", "url": "https://pubmed.ncbi.nlm.nih.gov/19911804" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P02452-1", "protein_name": "Collagen alpha-1(I) chain", "gene_name": "COL1A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P04114-1", "protein_name": "Apolipoprotein B-100", "gene_name": "APOB", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6ZMJ2-1", "protein_name": "Scavenger receptor class A member 5", "gene_name": "SCARA5", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02649-1", "protein_name": "Apolipoprotein E", "gene_name": "APOE", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02462-1", "protein_name": "Collagen alpha-1(IV) chain", "gene_name": "COL4A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08572-1", "protein_name": "Collagen alpha-2(IV) chain", "gene_name": "COL4A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96PL1-1", "protein_name": "Secretoglobin family 3A member 2", "gene_name": "SCGB3A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P48740-1", "protein_name": "Mannan-binding lectin serine protease 1", "gene_name": "MASP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UEW3-1", "protein_name": "Macrophage receptor MARCO", "gene_name": "MARCO", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02461-1", "protein_name": "Collagen alpha-1(III) chain", "gene_name": "COL3A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BWP8-1", "protein_name": "Collectin-11", "gene_name": "COLEC11", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08123-1", "protein_name": "Collagen alpha-2(I) chain", "gene_name": "COL1A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5KU26-1", "protein_name": "Collectin-12", "gene_name": "COLEC12", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02792-1", "protein_name": "Ferritin light chain", "gene_name": "FTL", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02794-1", "protein_name": "Ferritin heavy chain", "gene_name": "FTH1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21757-1", "protein_name": "Macrophage scavenger receptor types I and II", "gene_name": "MSR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P14625-1", "protein_name": "Endoplasmin", "gene_name": "HSP90B1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02647-1", "protein_name": "Apolipoprotein A-I", "gene_name": "APOA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27797-1", "protein_name": "Calreticulin", "gene_name": "CALR", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], 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"journal": "FEBS Lett.", "date": "1991", "authors": "M\u00e4\u00e4tt\u00e4 A, Bornstein P, Penttinen R P", "reference": { "type": "PubMed", "id": "1995349", "url": "https://pubmed.ncbi.nlm.nih.gov/1995349" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P02452-1", "protein_name": "Collagen alpha-1(I) chain", "gene_name": "COL1A1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1995349", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": 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"tax_name": "Human" }, { "uniprot_canonical_ac": "P12110-1", "protein_name": "Collagen alpha-2(VI) chain", "gene_name": "COL6A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14031-1", "protein_name": "Collagen alpha-6(IV) chain", "gene_name": "COL4A6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P20908-1", "protein_name": "Collagen alpha-1(V) chain", "gene_name": "COL5A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02462-1", "protein_name": "Collagen alpha-1(IV) chain", "gene_name": "COL4A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27658-1", "protein_name": "Collagen alpha-1(VIII) chain", "gene_name": "COL8A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08572-1", "protein_name": "Collagen alpha-2(IV) chain", "gene_name": "COL4A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P25067-1", "protein_name": "Collagen alpha-2(VIII) chain", "gene_name": "COL8A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P20849-1", "protein_name": "Collagen alpha-1(IX) chain", "gene_name": "COL9A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P25940-1", "protein_name": "Collagen alpha-3(V) chain", "gene_name": "COL5A3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q01955-1", "protein_name": "Collagen alpha-3(IV) chain", "gene_name": "COL4A3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P45452-1", "protein_name": "Collagenase 3", "gene_name": "MMP13", "tax_name": "Human" }, { "uniprot_canonical_ac": "P24347-1", "protein_name": "Stromelysin-3", "gene_name": "MMP11", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09238-1", "protein_name": "Stromelysin-2", "gene_name": "MMP10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P51511-1", "protein_name": "Matrix metalloproteinase-15", "gene_name": "MMP15", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09237-1", "protein_name": "Matrilysin", "gene_name": "MMP7", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02461-1", "protein_name": "Collagen alpha-1(III) chain", "gene_name": "COL3A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q07092-1", "protein_name": "Collagen alpha-1(XVI) chain", "gene_name": "COL16A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13942-1", "protein_name": "Collagen alpha-2(XI) chain", "gene_name": "COL11A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P29400-1", "protein_name": "Collagen alpha-5(IV) chain", "gene_name": "COL4A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14055-1", "protein_name": "Collagen alpha-2(IX) chain", "gene_name": "COL9A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99715-1", "protein_name": "Collagen alpha-1(XII) chain", "gene_name": "COL12A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "A8TX70-1", "protein_name": "Collagen alpha-5(VI) chain", "gene_name": "COL6A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05997-1", "protein_name": "Collagen alpha-2(V) chain", "gene_name": "COL5A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "A6NMZ7-1", 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}, { "uniprot_canonical_ac": "P22894-1", "protein_name": "Neutrophil collagenase", "gene_name": "MMP8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99542-1", "protein_name": "Matrix metalloproteinase-19", "gene_name": "MMP19", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60882-1", "protein_name": "Matrix metalloproteinase-20", "gene_name": "MMP20", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IU80-4", "protein_name": "Transmembrane protease serine 6", "gene_name": "TMPRSS6", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14672-1", "protein_name": "Disintegrin and metalloproteinase domain-containing protein 10", "gene_name": "ADAM10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07339-1", "protein_name": "Cathepsin D", "gene_name": "CTSD", "tax_name": "Human" }, { "uniprot_canonical_ac": "P39060-3", "protein_name": "Collagen alpha-1(XVIII) chain", "gene_name": "COL18A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13443-1", "protein_name": 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fibrinogen in platelet aggregation under varying shear stress.", "journal": "The Journal of clinical investigation", "date": "1991", "authors": "Ikeda Y, Handa M, Kawano K, Kamata T, Murata M, Araki Y, Anbo H, Kawai Y, Watanabe K, Itagaki I, et al.", "reference": { "type": "PubMed", "id": "2010539", "url": "https://pubmed.ncbi.nlm.nih.gov/2010539" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P02452-1", "protein_name": "Collagen alpha-1(I) chain", "gene_name": "COL1A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07359-1", "protein_name": "Platelet glycoprotein Ib alpha chain", "gene_name": "GP1BA", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13224-1", "protein_name": "Platelet glycoprotein Ib beta chain", "gene_name": "GP1BB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P04275-1", "protein_name": "von Willebrand factor", "gene_name": "VWF", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08123-1", "protein_name": "Collagen 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(COL1A1) that converts glycine alpha 1-541 to aspartate in a lethal variant of osteogenesis imperfecta: detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR.", "journal": "American journal of human genetics", "date": "1991", "authors": "Zhuang JP, Constantinou CD, Ganguly A, Prockop DJ", "reference": { "type": "PubMed", "id": "2035536", "url": "https://pubmed.ncbi.nlm.nih.gov/2035536" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P02452-1", "protein_name": "Collagen alpha-1(I) chain", "gene_name": "COL1A1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs72651646", "database": "dbSNP", "url": 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"https://pubmed.ncbi.nlm.nih.gov/2036375" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P02452-1", "protein_name": "Collagen alpha-1(I) chain", "gene_name": "COL1A1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2036375", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", 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"subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, collagen).", "chr_id": "17", "chr_pos": "50186913", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1181", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": 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"name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": 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"id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:0080727", "recommended_name": { "id": "DOID:0080727", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080727", "name": "Ehlers-Danlos syndrome arthrochalasia type 1", "description": "An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21." }, "synonyms": [ { "id": "MONDO:0020521", "resource": "MONDO", "url": 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infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability." }, "synonyms": [ { "id": "DOID:4257", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4257", "name": "cortical congenital hyperostosis", "description": "" }, { "id": "DOID:4257", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4257", "name": "infantile cortical hyperostosis", "description": "" }, { "id": "MONDO:0007244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007244", "name": "Caffey disease", "description": "Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described." }, { "id": "MONDO:0007244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007244", "name": "Caffey disease", "description": "" }, { "id": "MONDO:0007244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007244", "name": "infantile cortical hyperostosis", "description": "" }, { "id": "MIM:114000", "resource": "MIM", "url": "https://www.omim.org/entry/114000", "name": "Caffey disease", "description": "Caffey disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "114000", "database": "MIM", "url": "https://www.omim.org/entry/114000" }, { "id": "4257", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4257" } ] }, { "disease_id": "DOID:0110341", "recommended_name": { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "osteogenesis imperfecta type 2", "description": "An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "OI2", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "Vrolik type of osteogenesis imperfecta", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "osteogenesis imperfecta type II", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "perinatal lethal osteogenesis imperfecta congenita", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type 2", "description": "Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "OI type 2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "OI2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "Vrolik type of osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "lethal osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type 2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type II", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "Perinatally lethal OI", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta congenita perinatal lethal form", "description": "" }, { "id": "MIM:166210", "resource": "MIM", "url": "https://www.omim.org/entry/166210", "name": "Osteogenesis imperfecta 2", "description": "Osteogenesis imperfecta 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110341" } ] }, { "disease_id": "DOID:0110334", "recommended_name": { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type 1", "description": "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "OI1", "description": "" }, { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "166200", "database": "MIM", "url": "https://www.omim.org/entry/166200" }, { "id": "0110334", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110334" } ] }, { "disease_id": "DOID:12347", "recommended_name": { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "osteogenesis imperfecta", "description": "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue." }, "synonyms": [ { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Lobstein's syndrome", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Osteopsathyrosis", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Vrolik's disease", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "brittle bone disease", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "12347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12347" } ] }, { "disease_id": "DOID:0110339", "recommended_name": { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "osteogenesis imperfecta type 3", "description": "An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "progressively deforming osteogenesis imperfecta with normal sclera", "description": "" }, { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "OI3", "description": "" }, { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "osteogenesis imperfecta type III", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta type 3", "description": "Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI)." }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "OI type 3", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "OI3", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta type 3", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta type III", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "progressive deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "severe osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "OI type III", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta, progressively deforming with normal sclerae", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "progressively deforming OI", "description": "" }, { "id": "MIM:259420", "resource": "MIM", "url": "https://www.omim.org/entry/259420", "name": "Osteogenesis imperfecta 3", "description": "Osteogenesis imperfecta 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110339" } ] }, { "disease_id": "DOID:0110340", "recommended_name": { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta type 4", "description": "An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "OI4", "description": "" }, { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta type IV", "description": "" }, { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta with normal sclera", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "osteogenesis imperfecta type 4", "description": "Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI)." }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI type 4", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI4", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "osteogenesis imperfecta type IV", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI type IV", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "common variable OI with normal sclerae", "description": "" }, { "id": "MIM:166220", "resource": "MIM", "url": "https://www.omim.org/entry/166220", "name": "Osteogenesis imperfecta 4", "description": "Osteogenesis imperfecta 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "166220", "database": "MIM", "url": "https://www.omim.org/entry/166220" }, { "id": "0110340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110340" }, { "id": "0110340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110340" } ] }, { "disease_id": "DOID:11476", "recommended_name": { "id": "DOID:11476", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength." }, "synonyms": [ { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis", "description": "A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss)." }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "bone mineral density variation QTL, osteoporosis", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis, postmenopausal", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis, postmenopausal, susceptibility", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis, susceptibility to", "description": "" }, { "id": "MIM:166710", "resource": "MIM", "url": "https://www.omim.org/entry/166710", "name": "Osteoporosis", "description": "Osteoporosis" } ], "unlinked_id_list": [], "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "uniprot_canonical_ac": "P02452-1" }, { "evidence": [ { "id": "rs72645357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs72645357" }, { "id": "rs72645357", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs72645357" }, { "id": "2037280", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2037280" }, { "id": "8669434", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8669434" } ], "glycoeffect": [], "start_pos": 332, "end_pos": 332, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50196163", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G332", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080727", "recommended_name": { "id": "DOID:0080727", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080727", "name": "Ehlers-Danlos syndrome arthrochalasia type 1", "description": "An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21." }, "synonyms": [ { "id": "MONDO:0020521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020521", "name": "Ehlers-Danlos syndrome type 7A", "description": "" }, { "id": "MONDO:0020521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020521", "name": "EDS VIIA", "description": "" }, { "id": "MIM:130060", "resource": "MIM", "url": "https://www.omim.org/entry/130060", "name": "Ehlers-Danlos syndrome, arthrochalasia type, 1", "description": "Ehlers-Danlos syndrome, arthrochalasia type, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "130060", "database": "MIM", "url": "https://www.omim.org/entry/130060" }, { "id": "0080727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080727" } ] }, { "disease_id": "DOID:4257", "recommended_name": { "id": "DOID:4257", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4257", "name": "Caffey disease", "description": "A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability." }, "synonyms": [ { "id": "DOID:4257", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4257", "name": "cortical congenital hyperostosis", "description": "" }, { "id": "DOID:4257", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4257", "name": "infantile cortical hyperostosis", "description": "" }, { "id": "MONDO:0007244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007244", "name": "Caffey disease", "description": "Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described." }, { "id": "MONDO:0007244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007244", "name": "Caffey disease", "description": "" }, { "id": "MONDO:0007244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007244", "name": "infantile cortical hyperostosis", "description": "" }, { "id": "MIM:114000", "resource": "MIM", "url": "https://www.omim.org/entry/114000", "name": "Caffey disease", "description": "Caffey disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "114000", "database": "MIM", "url": "https://www.omim.org/entry/114000" }, { "id": "4257", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4257" } ] }, { "disease_id": "DOID:0110339", "recommended_name": { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "osteogenesis imperfecta type 3", "description": "An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "progressively deforming osteogenesis imperfecta with normal sclera", "description": "" }, { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "OI3", "description": "" }, { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "osteogenesis imperfecta type III", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta type 3", "description": "Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI)." }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "OI type 3", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "OI3", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta type 3", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta type III", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "progressive deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "severe osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "OI type III", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta, progressively deforming with normal sclerae", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "progressively deforming OI", "description": "" }, { "id": "MIM:259420", "resource": "MIM", "url": "https://www.omim.org/entry/259420", "name": "Osteogenesis imperfecta 3", "description": "Osteogenesis imperfecta 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110339" } ] }, { "disease_id": "DOID:0110334", "recommended_name": { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type 1", "description": "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "OI1", "description": "" }, { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "166200", "database": "MIM", "url": "https://www.omim.org/entry/166200" }, { "id": "0110334", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110334" } ] }, { "disease_id": "DOID:12347", "recommended_name": { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "osteogenesis imperfecta", "description": "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue." }, "synonyms": [ { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Lobstein's syndrome", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Osteopsathyrosis", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Vrolik's disease", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "brittle bone disease", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "12347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12347" } ] }, { "disease_id": "DOID:0110340", "recommended_name": { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta type 4", "description": "An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "OI4", "description": "" }, { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta type IV", "description": "" }, { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta with normal sclera", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "osteogenesis imperfecta type 4", "description": "Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI)." }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI type 4", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI4", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "osteogenesis imperfecta type IV", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI type IV", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "common variable OI with normal sclerae", "description": "" }, { "id": "MIM:166220", "resource": "MIM", "url": "https://www.omim.org/entry/166220", "name": "Osteogenesis imperfecta 4", "description": "Osteogenesis imperfecta 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "166220", "database": "MIM", "url": "https://www.omim.org/entry/166220" }, { "id": "0110340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110340" }, { "id": "0110340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110340" } ] }, { "disease_id": "DOID:0110341", "recommended_name": { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "osteogenesis imperfecta type 2", "description": "An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "OI2", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "Vrolik type of osteogenesis imperfecta", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "osteogenesis imperfecta type II", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "perinatal lethal osteogenesis imperfecta congenita", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type 2", "description": "Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "OI type 2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "OI2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "Vrolik type of osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "lethal osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type 2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type II", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "Perinatally lethal OI", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta congenita perinatal lethal form", "description": "" }, { "id": "MIM:166210", "resource": "MIM", "url": "https://www.omim.org/entry/166210", "name": "Osteogenesis imperfecta 2", "description": "Osteogenesis imperfecta 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110341" } ] } ], "uniprot_canonical_ac": "P02452-1" } ], "record_id": "pubmed.2037280", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": 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"https://pubmed.ncbi.nlm.nih.gov/2052556" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P02452-1", "protein_name": "Collagen alpha-1(I) chain", "gene_name": "COL1A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07359-1", "protein_name": "Platelet glycoprotein Ib alpha chain", "gene_name": "GP1BA", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13224-1", "protein_name": "Platelet glycoprotein Ib beta chain", "gene_name": "GP1BB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P04275-1", "protein_name": "von Willebrand factor", "gene_name": "VWF", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08123-1", "protein_name": "Collagen alpha-2(I) chain", "gene_name": "COL1A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P14770-1", "protein_name": "Platelet glycoprotein IX", "gene_name": "GP9", "tax_name": "Human" }, { "uniprot_canonical_ac": "P40197-1", "protein_name": "Platelet glycoprotein V", "gene_name": "GP5", "tax_name": "Human" } 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"o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Rb regulates fate choice and lineage commitment in vivo.", "journal": "Nature", "date": "2010", "authors": "Calo E, Quintero-Estades JA, Danielian PS, Nedelcu S, Berman SD, Lees JA", "reference": { "type": "PubMed", "id": "20686481", "url": "https://pubmed.ncbi.nlm.nih.gov/20686481" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P02452-1", "protein_name": "Collagen alpha-1(I) chain", "gene_name": "COL1A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06400-1", "protein_name": "Retinoblastoma-associated protein", "gene_name": "RB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P28482-1", "protein_name": "Mitogen-activated protein kinase 1", "gene_name": "MAPK1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13951-1", "protein_name": "Core-binding factor subunit beta", "gene_name": "CBFB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02818-1", "protein_name": "Osteocalcin", "gene_name": "BGLAP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TDD2-1", "protein_name": "Transcription factor Sp7", "gene_name": "SP7", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UBN7-1", "protein_name": "Protein deacetylase HDAC6", "gene_name": "HDAC6", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15379-1", "protein_name": "Histone deacetylase 3", "gene_name": "HDAC3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07947-1", "protein_name": "Tyrosine-protein kinase Yes", "gene_name": "YES1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WVF2-1", "protein_name": "Unique cartilage matrix-associated protein", "gene_name": "UCMA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UPW6-1", "protein_name": "DNA-binding protein SATB2", "gene_name": "SATB2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UBP5-1", "protein_name": "Hairy/enhancer-of-split related with YRPW motif protein 2", "gene_name": "HEY2", "tax_name": "Human" }, { 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"count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Assembly of fibronectin extracellular matrix.", "journal": "Annual review of cell and developmental biology", "date": "2010", "authors": "Singh P, Carraher C, Schwarzbauer JE", "reference": { "type": "PubMed", "id": "20690820", "url": "https://pubmed.ncbi.nlm.nih.gov/20690820" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P02452-1", "protein_name": "Collagen alpha-1(I) chain", "gene_name": "COL1A1", "tax_name": 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"o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Phosphorylation of focal adhesion kinase on tyrosine 194 by Met leads to its activation through relief of autoinhibition.", "journal": "Oncogene", "date": "2011", "authors": "Chen TH, Chan PC, Chen CL, Chen HC", "reference": { "type": "PubMed", "id": "20802513", "url": "https://pubmed.ncbi.nlm.nih.gov/20802513" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P02452-1", "protein_name": "Collagen alpha-1(I) chain", "gene_name": "COL1A1", 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"gene_name": "LAMB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P24043-1", "protein_name": "Laminin subunit alpha-2", "gene_name": "LAMA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P25391-1", "protein_name": "Laminin subunit alpha-1", "gene_name": "LAMA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y6N6-1", "protein_name": "Laminin subunit gamma-3", "gene_name": "LAMC3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13753-1", "protein_name": "Laminin subunit gamma-2", "gene_name": "LAMC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11047-1", "protein_name": "Laminin subunit gamma-1", "gene_name": "LAMC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13751-1", "protein_name": "Laminin subunit beta-3", "gene_name": "LAMB3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16787-2", "protein_name": "Laminin subunit alpha-3", "gene_name": "LAMA3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q16363-1", "protein_name": "Laminin subunit 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"Collagen alpha-1(II) chain", "gene_name": "COL2A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P14210-1", "protein_name": "Hepatocyte growth factor", "gene_name": "HGF", "tax_name": "Human" }, { "uniprot_canonical_ac": "P17301-1", "protein_name": "Integrin alpha-2", "gene_name": "ITGA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08581-1", "protein_name": "Hepatocyte growth factor receptor", "gene_name": "MET", "tax_name": "Human" }, { "uniprot_canonical_ac": "P55268-1", "protein_name": "Laminin subunit beta-2", "gene_name": "LAMB2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P12931-1", "protein_name": "Proto-oncogene tyrosine-protein kinase Src", "gene_name": "SRC", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], 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"P02452-1", "protein_name": "Collagen alpha-1(I) chain", "gene_name": "COL1A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P04114-1", "protein_name": "Apolipoprotein B-100", "gene_name": "APOB", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6ZMJ2-1", "protein_name": "Scavenger receptor class A member 5", "gene_name": "SCARA5", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02649-1", "protein_name": "Apolipoprotein E", "gene_name": "APOE", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02462-1", "protein_name": "Collagen alpha-1(IV) chain", "gene_name": "COL4A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08572-1", "protein_name": "Collagen alpha-2(IV) chain", "gene_name": "COL4A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96PL1-1", "protein_name": "Secretoglobin family 3A member 2", "gene_name": "SCGB3A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P48740-1", "protein_name": "Mannan-binding lectin serine protease 1", "gene_name": "MASP1", 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"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", "reference": { "type": "PubMed", "id": "20888598", "url": "https://pubmed.ncbi.nlm.nih.gov/20888598" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P02452-1", "protein_name": "Collagen alpha-1(I) chain", "gene_name": "COL1A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P04114-1", "protein_name": "Apolipoprotein B-100", "gene_name": "APOB", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6ZMJ2-1", "protein_name": "Scavenger receptor class A member 5", "gene_name": "SCARA5", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02649-1", "protein_name": "Apolipoprotein E", "gene_name": "APOE", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02462-1", "protein_name": "Collagen alpha-1(IV) chain", "gene_name": "COL4A1", "tax_name": "Human" }, { 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"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", "reference": { "type": "PubMed", "id": "20956340", "url": "https://pubmed.ncbi.nlm.nih.gov/20956340" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P02452-1", "protein_name": "Collagen alpha-1(I) chain", "gene_name": "COL1A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P04114-1", "protein_name": "Apolipoprotein B-100", "gene_name": "APOB", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6ZMJ2-1", "protein_name": "Scavenger receptor class A member 5", "gene_name": "SCARA5", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02649-1", "protein_name": "Apolipoprotein E", "gene_name": "APOE", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02462-1", "protein_name": "Collagen alpha-1(IV) chain", "gene_name": "COL4A1", "tax_name": "Human" }, { "uniprot_canonical_ac": 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The effects on thermal unfolding of the triple helix are position-specific and demonstrate that the protein unfolds through a series of cooperative blocks.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Westerhausen A, Kishi J, Prockop DJ", "reference": { "type": "PubMed", "id": "2116413", "url": "https://pubmed.ncbi.nlm.nih.gov/2116413" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P02452-1", "protein_name": "Collagen alpha-1(I) chain", "gene_name": "COL1A1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2116413", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": 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"WWTR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10275-1", "protein_name": "Androgen receptor", "gene_name": "AR", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.21173110", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 23 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": 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"protein_name": "Collagen alpha-3(IX) chain", "gene_name": "COL9A3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UMD9-1", "protein_name": "Collagen alpha-1(XVII) chain", "gene_name": "COL17A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P14780-1", "protein_name": "Matrix metalloproteinase-9", "gene_name": "MMP9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BXS0-1", "protein_name": "Collagen alpha-1(XXV) chain", "gene_name": "COL25A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q03692-1", "protein_name": "Collagen alpha-1(X) chain", "gene_name": "COL10A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08253-1", "protein_name": "72 kDa type IV collagenase", "gene_name": "MMP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07478-1", "protein_name": "Trypsin-2", "gene_name": "PRSS2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P43235-1", "protein_name": "Cathepsin K", "gene_name": "CTSK", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08254-1", "protein_name": "Stromelysin-1", "gene_name": "MMP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P22894-1", "protein_name": "Neutrophil collagenase", "gene_name": "MMP8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99542-1", "protein_name": "Matrix metalloproteinase-19", "gene_name": "MMP19", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60882-1", "protein_name": "Matrix metalloproteinase-20", "gene_name": "MMP20", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IU80-4", "protein_name": "Transmembrane protease serine 6", "gene_name": "TMPRSS6", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14672-1", "protein_name": "Disintegrin and metalloproteinase domain-containing protein 10", "gene_name": "ADAM10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07339-1", "protein_name": "Cathepsin D", "gene_name": "CTSD", "tax_name": "Human" }, { "uniprot_canonical_ac": "P39060-3", "protein_name": "Collagen alpha-1(XVIII) chain", "gene_name": "COL18A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13443-1", "protein_name": "Disintegrin and metalloproteinase domain-containing protein 9", "gene_name": "ADAM9", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.21593211", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 64 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "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", "reference": { "type": "PubMed", "id": "2169335", "url": "https://pubmed.ncbi.nlm.nih.gov/2169335" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P02452-1", "protein_name": "Collagen alpha-1(I) chain", "gene_name": "COL1A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P78536-1", "protein_name": "Disintegrin and metalloproteinase domain-containing protein 17", "gene_name": "ADAM17", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07858-1", "protein_name": "Cathepsin B", "gene_name": "CTSB", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q05707-1", "protein_name": "Collagen alpha-1(XIV) chain", "gene_name": "COL14A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P39059-1", "protein_name": "Collagen alpha-1(XV) chain", "gene_name": "COL15A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P53420-1", "protein_name": "Collagen alpha-4(IV) chain", "gene_name": "COL4A4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86Y22-1", "protein_name": "Collagen alpha-1(XXIII) chain", "gene_name": "COL23A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08246-1", "protein_name": "Neutrophil elastase", "gene_name": "ELANE", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09958-1", "protein_name": "Furin", "gene_name": "FURIN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P12107-1", "protein_name": "Collagen alpha-1(XI) chain", "gene_name": "COL11A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96A83-1", "protein_name": "Collagen alpha-1(XXVI) chain", "gene_name": "COL26A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14993-1", "protein_name": "Collagen alpha-1(XIX) chain", "gene_name": "COL19A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P03956-1", "protein_name": "Interstitial collagenase", "gene_name": "MMP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P39900-1", "protein_name": "Macrophage metalloelastase", "gene_name": "MMP12", "tax_name": "Human" }, { "uniprot_canonical_ac": "P50281-1", "protein_name": "Matrix metalloproteinase-14", "gene_name": "MMP14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IUZ5-1", "protein_name": "5-phosphohydroxy-L-lysine phospho-lyase", "gene_name": "PHYKPL", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07711-1", "protein_name": "Procathepsin L", "gene_name": "CTSL", "tax_name": "Human" }, { "uniprot_canonical_ac": "P12110-1", "protein_name": "Collagen alpha-2(VI) chain", "gene_name": "COL6A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14031-1", "protein_name": "Collagen alpha-6(IV) chain", "gene_name": "COL4A6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P20908-1", "protein_name": "Collagen alpha-1(V) chain", "gene_name": "COL5A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02462-1", "protein_name": "Collagen alpha-1(IV) chain", "gene_name": "COL4A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27658-1", "protein_name": "Collagen alpha-1(VIII) chain", "gene_name": "COL8A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08572-1", "protein_name": "Collagen alpha-2(IV) chain", "gene_name": "COL4A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P25067-1", "protein_name": "Collagen alpha-2(VIII) chain", "gene_name": "COL8A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P20849-1", "protein_name": "Collagen alpha-1(IX) chain", "gene_name": "COL9A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P25940-1", "protein_name": "Collagen alpha-3(V) chain", "gene_name": "COL5A3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q01955-1", "protein_name": "Collagen alpha-3(IV) chain", "gene_name": "COL4A3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P45452-1", "protein_name": "Collagenase 3", "gene_name": "MMP13", "tax_name": "Human" }, { "uniprot_canonical_ac": "P24347-1", "protein_name": "Stromelysin-3", "gene_name": "MMP11", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09238-1", "protein_name": "Stromelysin-2", "gene_name": "MMP10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P51511-1", "protein_name": "Matrix metalloproteinase-15", "gene_name": "MMP15", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09237-1", "protein_name": "Matrilysin", "gene_name": "MMP7", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02461-1", "protein_name": "Collagen alpha-1(III) chain", "gene_name": "COL3A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q07092-1", "protein_name": 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"uniprot_canonical_ac": "P12111-1", "protein_name": "Collagen alpha-3(VI) chain", "gene_name": "COL6A3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5TAT6-1", "protein_name": "Collagen alpha-1(XIII) chain", "gene_name": "COL13A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08123-1", "protein_name": "Collagen alpha-2(I) chain", "gene_name": "COL1A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P12109-1", "protein_name": "Collagen alpha-1(VI) chain", "gene_name": "COL6A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02458-2", "protein_name": "Collagen alpha-1(II) chain", "gene_name": "COL2A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q02388-1", "protein_name": "Collagen alpha-1(VII) chain", "gene_name": "COL7A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14050-1", "protein_name": "Collagen alpha-3(IX) chain", "gene_name": "COL9A3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UMD9-1", "protein_name": "Collagen alpha-1(XVII) chain", 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metalloproteinase domain-containing protein 10", "gene_name": "ADAM10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07339-1", "protein_name": "Cathepsin D", "gene_name": "CTSD", "tax_name": "Human" }, { "uniprot_canonical_ac": "P39060-3", "protein_name": "Collagen alpha-1(XVIII) chain", "gene_name": "COL18A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13443-1", "protein_name": "Disintegrin and metalloproteinase domain-containing protein 9", "gene_name": "ADAM9", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.21935455", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 64 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", 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"n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Substitution of arginine for glycine at position 847 in the triple-helical domain of the alpha 1 (I) chain of type I collagen produces lethal osteogenesis imperfecta. Molecules that contain one or two abnormal chains differ in stability and secretion.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Wallis GA, Starman BJ, Schwartz MF, Byers PH", "reference": { "type": "PubMed", "id": "2211725", "url": "https://pubmed.ncbi.nlm.nih.gov/2211725" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P02452-1", "protein_name": "Collagen alpha-1(I) chain", "gene_name": "COL1A1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2211725", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 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"gene_name": "VAV1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 113, "end_pos": 113, "kinase_uniprot_canonical_ac": "P43405-1", "kinase_gene_name": "SYK", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q13094", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q13094" }, { "database": "PubMed", "id": "15388330", "url": "https://pubmed.ncbi.nlm.nih.gov/15388330" }, { "database": "PubMed", "id": "22267732", "url": "https://pubmed.ncbi.nlm.nih.gov/22267732" }, { "database": "PubMed", "id": "8702662", "url": "https://pubmed.ncbi.nlm.nih.gov/8702662" } ], "site_lbl": "Tyr113", "uniprot_canonical_ac": "Q13094-1" }, { "start_pos": 128, "end_pos": 128, 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], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "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", "reference": { "type": "PubMed", "id": "22382088", "url": "https://pubmed.ncbi.nlm.nih.gov/22382088" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P02452-1", "protein_name": "Collagen alpha-1(I) chain", 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"Human" }, { "uniprot_canonical_ac": "P07711-1", "protein_name": "Procathepsin L", "gene_name": "CTSL", "tax_name": "Human" }, { "uniprot_canonical_ac": "P12110-1", "protein_name": "Collagen alpha-2(VI) chain", "gene_name": "COL6A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14031-1", "protein_name": "Collagen alpha-6(IV) chain", "gene_name": "COL4A6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P20908-1", "protein_name": "Collagen alpha-1(V) chain", "gene_name": "COL5A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02462-1", "protein_name": "Collagen alpha-1(IV) chain", "gene_name": "COL4A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27658-1", "protein_name": "Collagen alpha-1(VIII) chain", "gene_name": "COL8A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08572-1", "protein_name": "Collagen alpha-2(IV) chain", "gene_name": "COL4A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P25067-1", "protein_name": "Collagen alpha-2(VIII) chain", "gene_name": "COL8A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P20849-1", "protein_name": "Collagen alpha-1(IX) chain", "gene_name": "COL9A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P25940-1", "protein_name": "Collagen alpha-3(V) chain", "gene_name": "COL5A3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q01955-1", "protein_name": "Collagen alpha-3(IV) chain", "gene_name": "COL4A3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P45452-1", "protein_name": "Collagenase 3", "gene_name": "MMP13", "tax_name": "Human" }, { "uniprot_canonical_ac": "P24347-1", "protein_name": "Stromelysin-3", "gene_name": "MMP11", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09238-1", "protein_name": "Stromelysin-2", "gene_name": "MMP10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P51511-1", "protein_name": "Matrix metalloproteinase-15", "gene_name": "MMP15", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09237-1", "protein_name": "Matrilysin", "gene_name": "MMP7", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02461-1", "protein_name": "Collagen alpha-1(III) chain", "gene_name": "COL3A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q07092-1", "protein_name": "Collagen alpha-1(XVI) chain", "gene_name": "COL16A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13942-1", "protein_name": "Collagen alpha-2(XI) chain", "gene_name": "COL11A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P29400-1", "protein_name": "Collagen alpha-5(IV) chain", "gene_name": "COL4A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14055-1", "protein_name": "Collagen alpha-2(IX) chain", "gene_name": "COL9A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99715-1", "protein_name": "Collagen alpha-1(XII) chain", "gene_name": "COL12A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "A8TX70-1", "protein_name": "Collagen alpha-5(VI) chain", "gene_name": "COL6A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05997-1", "protein_name": "Collagen alpha-2(V) chain", "gene_name": "COL5A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "A6NMZ7-1", "protein_name": "Collagen alpha-6(VI) chain", "gene_name": "COL6A6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P12111-1", "protein_name": "Collagen alpha-3(VI) chain", "gene_name": "COL6A3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5TAT6-1", "protein_name": "Collagen alpha-1(XIII) chain", "gene_name": "COL13A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08123-1", "protein_name": "Collagen alpha-2(I) chain", "gene_name": "COL1A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P12109-1", "protein_name": "Collagen alpha-1(VI) chain", "gene_name": "COL6A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02458-2", "protein_name": "Collagen alpha-1(II) chain", "gene_name": "COL2A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q02388-1", "protein_name": "Collagen alpha-1(VII) chain", "gene_name": "COL7A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14050-1", "protein_name": "Collagen alpha-3(IX) chain", "gene_name": "COL9A3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UMD9-1", "protein_name": "Collagen alpha-1(XVII) chain", "gene_name": "COL17A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P14780-1", "protein_name": "Matrix metalloproteinase-9", "gene_name": "MMP9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BXS0-1", "protein_name": "Collagen alpha-1(XXV) chain", "gene_name": "COL25A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q03692-1", "protein_name": "Collagen alpha-1(X) chain", "gene_name": "COL10A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08253-1", "protein_name": "72 kDa type IV collagenase", "gene_name": "MMP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07478-1", "protein_name": "Trypsin-2", "gene_name": "PRSS2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P43235-1", "protein_name": "Cathepsin K", "gene_name": "CTSK", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08254-1", "protein_name": "Stromelysin-1", "gene_name": "MMP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P22894-1", "protein_name": "Neutrophil collagenase", "gene_name": "MMP8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99542-1", "protein_name": "Matrix metalloproteinase-19", "gene_name": "MMP19", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60882-1", "protein_name": "Matrix metalloproteinase-20", "gene_name": "MMP20", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IU80-4", "protein_name": "Transmembrane protease serine 6", "gene_name": "TMPRSS6", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14672-1", "protein_name": "Disintegrin and metalloproteinase domain-containing protein 10", "gene_name": "ADAM10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07339-1", "protein_name": "Cathepsin D", "gene_name": "CTSD", "tax_name": "Human" }, { "uniprot_canonical_ac": "P39060-3", "protein_name": "Collagen alpha-1(XVIII) 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"o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "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", "reference": { "type": "PubMed", "id": "22570530", "url": "https://pubmed.ncbi.nlm.nih.gov/22570530" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P02452-1", "protein_name": "Collagen alpha-1(I) chain", "gene_name": "COL1A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P04114-1", "protein_name": "Apolipoprotein B-100", "gene_name": "APOB", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6ZMJ2-1", "protein_name": "Scavenger receptor class A member 5", "gene_name": "SCARA5", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02649-1", "protein_name": "Apolipoprotein E", "gene_name": "APOE", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02462-1", "protein_name": "Collagen alpha-1(IV) 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Proteome Res.", "date": "2012", "authors": "Rosenow Anja, Noben Jean-Paul, Jocken Johan, Kallendrusch Sonja, Fischer-Posovszky Pamela, Mariman Edwin C M, Renes Johan", "reference": { "type": "PubMed", "id": "22905912", "url": "https://pubmed.ncbi.nlm.nih.gov/22905912" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P02452-1", "protein_name": "Collagen alpha-1(I) chain", "gene_name": "COL1A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q15848-1", "protein_name": "Adiponectin", "gene_name": "ADIPOQ", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q03154-1", "protein_name": "Aminoacylase-1", "gene_name": "ACY1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11021-1", "protein_name": "Endoplasmic reticulum chaperone BiP", "gene_name": "HSPA5", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02751-15", "protein_name": "Fibronectin", "gene_name": "FN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q12805-1", "protein_name": 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"5-phosphohydroxy-L-lysine phospho-lyase", "gene_name": "PHYKPL", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07711-1", "protein_name": "Procathepsin L", "gene_name": "CTSL", "tax_name": "Human" }, { "uniprot_canonical_ac": "P12110-1", "protein_name": "Collagen alpha-2(VI) chain", "gene_name": "COL6A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14031-1", "protein_name": "Collagen alpha-6(IV) chain", "gene_name": "COL4A6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P20908-1", "protein_name": "Collagen alpha-1(V) chain", "gene_name": "COL5A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02462-1", "protein_name": "Collagen alpha-1(IV) chain", "gene_name": "COL4A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27658-1", "protein_name": "Collagen alpha-1(VIII) chain", "gene_name": "COL8A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08572-1", "protein_name": "Collagen alpha-2(IV) chain", "gene_name": "COL4A2", "tax_name": "Human" }, { 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"uniprot_canonical_ac": "P09237-1", "protein_name": "Matrilysin", "gene_name": "MMP7", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02461-1", "protein_name": "Collagen alpha-1(III) chain", "gene_name": "COL3A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q07092-1", "protein_name": "Collagen alpha-1(XVI) chain", "gene_name": "COL16A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13942-1", "protein_name": "Collagen alpha-2(XI) chain", "gene_name": "COL11A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P29400-1", "protein_name": "Collagen alpha-5(IV) chain", "gene_name": "COL4A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14055-1", "protein_name": "Collagen alpha-2(IX) chain", "gene_name": "COL9A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99715-1", "protein_name": "Collagen alpha-1(XII) chain", "gene_name": "COL12A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "A8TX70-1", "protein_name": "Collagen alpha-5(VI) chain", "gene_name": 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{ "uniprot_canonical_ac": "P39060-3", "protein_name": "Collagen alpha-1(XVIII) chain", "gene_name": "COL18A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13443-1", "protein_name": "Disintegrin and metalloproteinase domain-containing protein 9", "gene_name": "ADAM9", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2548603", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 64 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": 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"Human" }, { "uniprot_canonical_ac": "Q13443-1", "protein_name": "Disintegrin and metalloproteinase domain-containing protein 9", "gene_name": "ADAM9", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2551898", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 81 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 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"tax_name": "Human" }, { "uniprot_canonical_ac": "Q13951-1", "protein_name": "Core-binding factor subunit beta", "gene_name": "CBFB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02818-1", "protein_name": "Osteocalcin", "gene_name": "BGLAP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8TDD2-1", "protein_name": "Transcription factor Sp7", "gene_name": "SP7", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UBN7-1", "protein_name": "Protein deacetylase HDAC6", "gene_name": "HDAC6", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15379-1", "protein_name": "Histone deacetylase 3", "gene_name": "HDAC3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07947-1", "protein_name": "Tyrosine-protein kinase Yes", "gene_name": "YES1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WVF2-1", "protein_name": "Unique cartilage matrix-associated protein", "gene_name": "UCMA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UPW6-1", "protein_name": "DNA-binding protein 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"tax_name": "Human" }, { "uniprot_canonical_ac": "P12931-1", "protein_name": "Proto-oncogene tyrosine-protein kinase Src", "gene_name": "SRC", "tax_name": "Human" }, { "uniprot_canonical_ac": "P00519-1", "protein_name": "Tyrosine-protein kinase ABL1", "gene_name": "ABL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P46937-1", "protein_name": "Transcriptional coactivator YAP1", "gene_name": "YAP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9GZV5-1", "protein_name": "WW domain-containing transcription regulator protein 1", "gene_name": "WWTR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10275-1", "protein_name": "Androgen receptor", "gene_name": "AR", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.25865393", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 23 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": 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L, Metspalu A, Martson A", "reference": { "type": "PubMed", "id": "25958000", "url": "https://pubmed.ncbi.nlm.nih.gov/25958000" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P02452-1", "protein_name": "Collagen alpha-1(I) chain", "gene_name": "COL1A1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.25958000", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], 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Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Marini JC, Grange DK, Gottesman GS, Lewis MB, Koeplin DA", "reference": { "type": "PubMed", "id": "2745420", "url": "https://pubmed.ncbi.nlm.nih.gov/2745420" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P02452-1", "protein_name": "Collagen alpha-1(I) chain", "gene_name": "COL1A1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs72653169", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs72653169" }, { "id": "rs72653169", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs72653169" }, { "id": "2745420", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2745420" }, { "id": "8456809", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8456809" } ], "glycoeffect": [], "start_pos": 1010, "end_pos": 1010, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50188920", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1010", "disease": [ { "disease_id": "DOID:0110340", "recommended_name": { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta type 4", "description": "An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "OI4", "description": "" }, { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta type IV", "description": "" }, { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta with normal sclera", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "osteogenesis imperfecta type 4", "description": "Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. 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The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype.", "journal": "The Journal of clinical investigation", "date": "1989", "authors": "Starman BJ, Eyre D, Charbonneau H, Harrylock M, Weis MA, Weiss L, Graham JM Jr, Byers PH", "reference": { "type": "PubMed", "id": "2794057", "url": "https://pubmed.ncbi.nlm.nih.gov/2794057" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P02452-1", "protein_name": "Collagen alpha-1(I) chain", "gene_name": "COL1A1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs72645331", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs72645331" }, { "id": "rs72645331", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs72645331" }, { "id": "2794057", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2794057" } ], "glycoeffect": [], "start_pos": 272, "end_pos": 272, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50196661", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G272", "disease": [ { "disease_id": "DOID:4257", "recommended_name": { "id": "DOID:4257", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4257", "name": "Caffey disease", "description": "A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability." }, "synonyms": [ { "id": "DOID:4257", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4257", "name": "cortical congenital hyperostosis", "description": "" }, { "id": "DOID:4257", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4257", "name": "infantile cortical hyperostosis", "description": "" }, { "id": "MONDO:0007244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007244", "name": "Caffey disease", "description": "Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described." }, { "id": "MONDO:0007244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007244", "name": "Caffey disease", "description": "" }, { "id": "MONDO:0007244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007244", "name": "infantile cortical hyperostosis", "description": "" }, { "id": "MIM:114000", "resource": "MIM", "url": "https://www.omim.org/entry/114000", "name": "Caffey disease", "description": "Caffey disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "114000", "database": "MIM", "url": "https://www.omim.org/entry/114000" }, { "id": "4257", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4257" } ] }, { "disease_id": "DOID:0110334", "recommended_name": { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type 1", "description": "An osteogenesis 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"https://disease-ontology.org/term/DOID:12347", "name": "brittle bone disease", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": 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"end_pos": 593, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50193038", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G593", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0080727", "recommended_name": { "id": "DOID:0080727", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080727", "name": "Ehlers-Danlos syndrome arthrochalasia type 1", "description": "An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21." }, "synonyms": [ { "id": "MONDO:0020521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020521", "name": "Ehlers-Danlos syndrome type 7A", "description": "" }, { "id": "MONDO:0020521", "resource": 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However, prenatal disease onset has also been described." }, { "id": "MONDO:0007244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007244", "name": "Caffey disease", "description": "" }, { "id": "MONDO:0007244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007244", "name": "infantile cortical hyperostosis", "description": "" }, { "id": "MIM:114000", "resource": "MIM", "url": "https://www.omim.org/entry/114000", "name": "Caffey disease", "description": "Caffey disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "114000", "database": "MIM", "url": "https://www.omim.org/entry/114000" }, { "id": "4257", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4257" } ] }, { "disease_id": "DOID:0110339", "recommended_name": { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "osteogenesis imperfecta type 3", "description": "An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "progressively deforming osteogenesis imperfecta with normal sclera", "description": "" }, { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "OI3", "description": "" }, { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "osteogenesis imperfecta type III", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta type 3", "description": "Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI)." }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "OI type 3", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "OI3", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta type 3", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta type III", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "progressive deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "severe osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "OI type III", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta, progressively deforming with normal sclerae", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "progressively deforming OI", "description": "" }, { "id": "MIM:259420", "resource": "MIM", "url": "https://www.omim.org/entry/259420", "name": "Osteogenesis imperfecta 3", "description": "Osteogenesis imperfecta 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110339" } ] }, { "disease_id": "DOID:0110340", "recommended_name": { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta type 4", "description": "An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "OI4", "description": "" }, { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta type IV", "description": "" }, { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta with normal sclera", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "osteogenesis imperfecta type 4", "description": "Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI)." }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI type 4", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI4", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "osteogenesis imperfecta type IV", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI type IV", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "common variable OI with normal sclerae", "description": "" }, { "id": "MIM:166220", "resource": "MIM", "url": "https://www.omim.org/entry/166220", "name": "Osteogenesis imperfecta 4", "description": "Osteogenesis imperfecta 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "166220", "database": "MIM", "url": "https://www.omim.org/entry/166220" }, { "id": "0110340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110340" }, { "id": "0110340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110340" } ] }, { "disease_id": "DOID:0110334", "recommended_name": { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type 1", "description": "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "OI1", "description": "" }, { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "166200", "database": "MIM", "url": "https://www.omim.org/entry/166200" }, { "id": "0110334", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110334" } ] }, { "disease_id": "DOID:12347", "recommended_name": { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "osteogenesis imperfecta", "description": "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue." }, "synonyms": [ { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Lobstein's syndrome", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Osteopsathyrosis", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Vrolik's disease", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "brittle bone disease", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "12347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12347" } ] }, { "disease_id": "DOID:0110341", "recommended_name": { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "osteogenesis imperfecta type 2", "description": "An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "OI2", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "Vrolik type of osteogenesis imperfecta", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "osteogenesis imperfecta type II", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "perinatal lethal osteogenesis imperfecta congenita", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type 2", "description": "Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "OI type 2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "OI2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "Vrolik type of osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "lethal osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type 2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type II", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "Perinatally lethal OI", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta congenita perinatal lethal form", "description": "" }, { "id": "MIM:166210", "resource": "MIM", "url": "https://www.omim.org/entry/166210", "name": "Osteogenesis imperfecta 2", "description": "Osteogenesis imperfecta 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110341" } ] }, { "disease_id": "DOID:11476", "recommended_name": { "id": "DOID:11476", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength." }, "synonyms": [ { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis", "description": "A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss)." }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "bone mineral density variation QTL, osteoporosis", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis, postmenopausal", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis, postmenopausal, susceptibility", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis, susceptibility to", "description": "" }, { "id": "MIM:166710", "resource": "MIM", "url": "https://www.omim.org/entry/166710", "name": "Osteoporosis", "description": "Osteoporosis" } ], "unlinked_id_list": [], "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ] } ], "uniprot_canonical_ac": "P02452-1" }, { "evidence": [ { "id": "rs67368147", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs67368147" }, { "id": "rs67368147", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs67368147" }, { "id": "2794057", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2794057" } ], "glycoeffect": [], "start_pos": 704, "end_pos": 704, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50191805", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G704", "disease": [ { "disease_id": "DOID:0110339", "recommended_name": { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "osteogenesis imperfecta type 3", "description": "An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "progressively deforming osteogenesis imperfecta with normal sclera", "description": "" }, { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "OI3", "description": "" }, { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "osteogenesis imperfecta type III", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta type 3", "description": "Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI)." }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "OI type 3", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "OI3", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta type 3", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta type III", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "progressive deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "severe osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "OI type III", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta, progressively deforming with normal sclerae", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "progressively deforming OI", "description": "" }, { "id": "MIM:259420", "resource": "MIM", "url": "https://www.omim.org/entry/259420", "name": "Osteogenesis imperfecta 3", "description": "Osteogenesis imperfecta 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110339" } ] }, { "disease_id": "DOID:0110340", "recommended_name": { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta type 4", "description": "An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "OI4", "description": "" }, { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta type IV", "description": "" }, { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta with normal sclera", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "osteogenesis imperfecta type 4", "description": "Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI)." }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI type 4", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI4", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "osteogenesis imperfecta type IV", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI type IV", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "common variable OI with normal sclerae", "description": "" }, { "id": "MIM:166220", "resource": "MIM", "url": "https://www.omim.org/entry/166220", "name": "Osteogenesis imperfecta 4", "description": "Osteogenesis imperfecta 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "166220", "database": "MIM", "url": "https://www.omim.org/entry/166220" }, { "id": "0110340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110340" }, { "id": "0110340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110340" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "uniprot_canonical_ac": "P02452-1" }, { "evidence": [ { "id": "rs72653152", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs72653152" }, { "id": "rs72653152", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs72653152" }, { "id": "2794057", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2794057" } ], "glycoeffect": [], "start_pos": 896, "end_pos": 896, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50189520", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G896", "disease": [ { "disease_id": "DOID:0110341", "recommended_name": { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "osteogenesis imperfecta type 2", "description": "An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "OI2", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "Vrolik type of osteogenesis imperfecta", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "osteogenesis imperfecta type II", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "perinatal lethal osteogenesis imperfecta congenita", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type 2", "description": "Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "OI type 2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "OI2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "Vrolik type of osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "lethal osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type 2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type II", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "Perinatally lethal OI", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta congenita perinatal lethal form", "description": "" }, { "id": "MIM:166210", "resource": "MIM", "url": "https://www.omim.org/entry/166210", "name": "Osteogenesis imperfecta 2", "description": "Osteogenesis imperfecta 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110341" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "uniprot_canonical_ac": "P02452-1" } ], "record_id": "pubmed.2794057", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "DNA sequences in the first intron of the human pro-alpha 1(I) collagen gene enhance transcription.", "journal": "J. 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Chem.", "date": "1987", "authors": "Rossouw C M, Vergeer W P, du Plooy S J, Bernard M P, Ramirez F, de Wet W J", "reference": { "type": "PubMed", "id": "2822714", "url": "https://pubmed.ncbi.nlm.nih.gov/2822714" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P02452-1", "protein_name": "Collagen alpha-1(I) chain", "gene_name": "COL1A1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2822714", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { 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"Matrilysin", "gene_name": "MMP7", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02461-1", "protein_name": "Collagen alpha-1(III) chain", "gene_name": "COL3A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q07092-1", "protein_name": "Collagen alpha-1(XVI) chain", "gene_name": "COL16A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13942-1", "protein_name": "Collagen alpha-2(XI) chain", "gene_name": "COL11A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P29400-1", "protein_name": "Collagen alpha-5(IV) chain", "gene_name": "COL4A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14055-1", "protein_name": "Collagen alpha-2(IX) chain", "gene_name": "COL9A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99715-1", "protein_name": "Collagen alpha-1(XII) chain", "gene_name": "COL12A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "A8TX70-1", "protein_name": "Collagen alpha-5(VI) chain", "gene_name": "COL6A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05997-1", "protein_name": "Collagen alpha-2(V) chain", "gene_name": "COL5A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "A6NMZ7-1", "protein_name": "Collagen alpha-6(VI) chain", "gene_name": "COL6A6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P12111-1", "protein_name": "Collagen alpha-3(VI) chain", "gene_name": "COL6A3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5TAT6-1", "protein_name": "Collagen alpha-1(XIII) chain", "gene_name": "COL13A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08123-1", "protein_name": "Collagen alpha-2(I) chain", "gene_name": "COL1A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P12109-1", "protein_name": "Collagen alpha-1(VI) chain", "gene_name": "COL6A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02458-2", "protein_name": "Collagen alpha-1(II) chain", "gene_name": "COL2A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q02388-1", "protein_name": "Collagen alpha-1(VII) chain", "gene_name": "COL7A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14050-1", "protein_name": "Collagen alpha-3(IX) chain", "gene_name": "COL9A3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UMD9-1", "protein_name": "Collagen alpha-1(XVII) chain", "gene_name": "COL17A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P14780-1", "protein_name": "Matrix metalloproteinase-9", "gene_name": "MMP9", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9BXS0-1", "protein_name": "Collagen alpha-1(XXV) chain", "gene_name": "COL25A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q03692-1", "protein_name": "Collagen alpha-1(X) chain", "gene_name": "COL10A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08253-1", "protein_name": "72 kDa type IV collagenase", "gene_name": "MMP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07478-1", "protein_name": "Trypsin-2", "gene_name": "PRSS2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P43235-1", "protein_name": "Cathepsin K", "gene_name": "CTSK", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08254-1", "protein_name": "Stromelysin-1", "gene_name": "MMP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P22894-1", "protein_name": "Neutrophil collagenase", "gene_name": "MMP8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99542-1", "protein_name": "Matrix metalloproteinase-19", "gene_name": "MMP19", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60882-1", "protein_name": "Matrix metalloproteinase-20", "gene_name": "MMP20", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IU80-4", "protein_name": "Transmembrane protease serine 6", "gene_name": "TMPRSS6", "tax_name": "Human" }, { "uniprot_canonical_ac": "O14672-1", "protein_name": "Disintegrin and metalloproteinase domain-containing protein 10", "gene_name": "ADAM10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07339-1", "protein_name": "Cathepsin D", "gene_name": "CTSD", "tax_name": "Human" }, { "uniprot_canonical_ac": "P39060-3", "protein_name": 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"sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": 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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", "reference": { "type": "PubMed", "id": "2845110", "url": "https://pubmed.ncbi.nlm.nih.gov/2845110" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P02452-1", "protein_name": "Collagen alpha-1(I) chain", "gene_name": "COL1A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P78536-1", "protein_name": "Disintegrin and metalloproteinase domain-containing protein 17", "gene_name": "ADAM17", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07858-1", "protein_name": "Cathepsin B", "gene_name": "CTSB", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q05707-1", "protein_name": "Collagen alpha-1(XIV) chain", "gene_name": "COL14A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P39059-1", "protein_name": "Collagen 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"https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ] }, { "disease_id": "DOID:0080727", "recommended_name": { "id": "DOID:0080727", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080727", "name": "Ehlers-Danlos syndrome arthrochalasia type 1", "description": "An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21." }, "synonyms": [ { "id": "MONDO:0020521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020521", "name": "Ehlers-Danlos syndrome type 7A", "description": "" }, { "id": "MONDO:0020521", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020521", "name": "EDS VIIA", "description": "" }, { "id": "MIM:130060", "resource": "MIM", "url": "https://www.omim.org/entry/130060", "name": "Ehlers-Danlos syndrome, arthrochalasia type, 1", "description": "Ehlers-Danlos syndrome, arthrochalasia type, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "130060", "database": "MIM", "url": "https://www.omim.org/entry/130060" }, { "id": "0080727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080727" } ] }, { "disease_id": "DOID:4257", "recommended_name": { "id": "DOID:4257", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4257", "name": "Caffey disease", "description": "A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability." }, "synonyms": [ { "id": "DOID:4257", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4257", "name": "cortical congenital hyperostosis", "description": "" }, { "id": "DOID:4257", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4257", "name": "infantile cortical hyperostosis", "description": "" }, { "id": "MONDO:0007244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007244", "name": "Caffey disease", "description": "Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described." }, { "id": "MONDO:0007244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007244", "name": "Caffey disease", "description": "" }, { "id": "MONDO:0007244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007244", "name": "infantile cortical hyperostosis", "description": "" }, { "id": "MIM:114000", "resource": "MIM", "url": "https://www.omim.org/entry/114000", "name": "Caffey disease", "description": "Caffey disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "114000", "database": "MIM", "url": "https://www.omim.org/entry/114000" }, { "id": "4257", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4257" } ] }, { "disease_id": "DOID:0110341", "recommended_name": { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "osteogenesis imperfecta type 2", "description": "An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "OI2", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "Vrolik type of osteogenesis imperfecta", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "osteogenesis imperfecta type II", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "perinatal lethal osteogenesis imperfecta congenita", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type 2", "description": "Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "OI type 2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "OI2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "Vrolik type of osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "lethal osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type 2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type II", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "Perinatally lethal OI", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta congenita perinatal lethal form", "description": "" }, { "id": "MIM:166210", "resource": "MIM", "url": "https://www.omim.org/entry/166210", "name": "Osteogenesis imperfecta 2", "description": "Osteogenesis imperfecta 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110341" } ] }, { "disease_id": "DOID:0110334", "recommended_name": { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type 1", "description": "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "OI1", "description": "" }, { "id": "DOID:0110334", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110334", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "166200", "database": "MIM", "url": "https://www.omim.org/entry/166200" }, { "id": "0110334", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110334" } ] }, { "disease_id": "DOID:12347", "recommended_name": { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "osteogenesis imperfecta", "description": "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue." }, "synonyms": [ { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Lobstein's syndrome", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Osteopsathyrosis", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "Vrolik's disease", "description": "" }, { "id": "DOID:12347", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12347", "name": "brittle bone disease", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Adair-Dighton syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "COL1A1-related osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "OI1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "Van der Hoeve syndrome", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "mild osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "non-deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type 1", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "osteogenesis imperfecta type I", "description": "" }, { "id": "MONDO:0008146", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008146", "name": "classic non-deforming OI with blue sclerae", "description": "" }, { "id": "MIM:166200", "resource": "MIM", "url": "https://www.omim.org/entry/166200", "name": "Osteogenesis imperfecta 1", "description": "Osteogenesis imperfecta 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "12347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12347" } ] }, { "disease_id": "DOID:0110339", "recommended_name": { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "osteogenesis imperfecta type 3", "description": "An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "progressively deforming osteogenesis imperfecta with normal sclera", "description": "" }, { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "OI3", "description": "" }, { "id": "DOID:0110339", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110339", "name": "osteogenesis imperfecta type III", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta type 3", "description": "Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI)." }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "OI type 3", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "OI3", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta type 3", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta type III", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "progressive deforming osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "severe osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "OI type III", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "osteogenesis imperfecta, progressively deforming with normal sclerae", "description": "" }, { "id": "MONDO:0009804", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009804", "name": "progressively deforming OI", "description": "" }, { "id": "MIM:259420", "resource": "MIM", "url": "https://www.omim.org/entry/259420", "name": "Osteogenesis imperfecta 3", "description": "Osteogenesis imperfecta 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110339" } ] }, { "disease_id": "DOID:0110340", "recommended_name": { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta type 4", "description": "An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "OI4", "description": "" }, { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta type IV", "description": "" }, { "id": "DOID:0110340", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110340", "name": "osteogenesis imperfecta with normal sclera", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "osteogenesis imperfecta type 4", "description": "Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI)." }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI type 4", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI4", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "osteogenesis imperfecta type IV", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "OI type IV", "description": "" }, { "id": "MONDO:0008148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008148", "name": "common variable OI with normal sclerae", "description": "" }, { "id": "MIM:166220", "resource": "MIM", "url": "https://www.omim.org/entry/166220", "name": "Osteogenesis imperfecta 4", "description": "Osteogenesis imperfecta 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "166220", "database": "MIM", "url": "https://www.omim.org/entry/166220" }, { "id": "0110340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110340" }, { "id": "0110340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110340" } ] }, { "disease_id": "DOID:11476", "recommended_name": { "id": "DOID:11476", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength." }, "synonyms": [ { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis", "description": "A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss)." }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "bone mineral density variation QTL, osteoporosis", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis, postmenopausal", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis, postmenopausal, susceptibility", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis, susceptibility to", "description": "" }, { "id": "MIM:166710", "resource": "MIM", "url": "https://www.omim.org/entry/166710", "name": "Osteoporosis", "description": "Osteoporosis" } ], "unlinked_id_list": [], "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "uniprot_canonical_ac": "P02452-1" } ], "record_id": "pubmed.2894346", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen.", "journal": "The Journal of clinical investigation", "date": "1989", "authors": "Constantinou CD, Nielsen KB, Prockop DJ", "reference": { "type": "PubMed", "id": "2913053", "url": "https://pubmed.ncbi.nlm.nih.gov/2913053" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P02452-1", "protein_name": "Collagen alpha-1(I) chain", "gene_name": "COL1A1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs72656303", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs72656303" }, { "id": "rs72656303", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs72656303" }, { "id": "2220807", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2220807" }, { "id": "2309707", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2309707" }, { "id": "2339700", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2339700" }, { "id": "2913053", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2913053" } ], "glycoeffect": [], "start_pos": 1082, "end_pos": 1082, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50188113", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1082", "disease": [ { "disease_id": "DOID:0110341", "recommended_name": { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "osteogenesis imperfecta type 2", "description": "An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "OI2", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "Vrolik type of osteogenesis imperfecta", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "osteogenesis imperfecta type II", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "perinatal lethal osteogenesis imperfecta congenita", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type 2", "description": "Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "OI type 2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "OI2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "Vrolik type of osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "lethal osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type 2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type II", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "Perinatally lethal OI", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta congenita perinatal lethal form", "description": "" }, { "id": "MIM:166210", "resource": "MIM", "url": "https://www.omim.org/entry/166210", "name": "Osteogenesis imperfecta 2", "description": "Osteogenesis imperfecta 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110341" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "uniprot_canonical_ac": "P02452-1" } ], "record_id": "pubmed.2913053", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA.", "journal": "J. 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prepro alpha 1(I) chain of human type I procollagen.", "journal": "Biochem. J.", "date": "1988", "authors": "Tromp G, Kuivaniemi H, Stacey A, Shikata H, Baldwin C T, Jaenisch R, Prockop D J", "reference": { "type": "PubMed", "id": "3178743", "url": "https://pubmed.ncbi.nlm.nih.gov/3178743" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P02452-1", "protein_name": "Collagen alpha-1(I) chain", "gene_name": "COL1A1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.3178743", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { 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"ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G926", "disease": [ { "disease_id": "DOID:0110341", "recommended_name": { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "osteogenesis imperfecta type 2", "description": "An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3." }, "synonyms": [ { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "OI2", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110341", "name": "Vrolik type of osteogenesis imperfecta", "description": "" }, { "id": "DOID:0110341", "resource": "Disease Ontology", "url": 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Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "OI type 2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "OI2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "Vrolik type of osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "lethal osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type 2", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta type II", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "Perinatally lethal OI", "description": "" }, { "id": "MONDO:0008147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008147", "name": "osteogenesis imperfecta congenita perinatal lethal form", "description": "" }, { "id": "MIM:166210", "resource": "MIM", "url": "https://www.omim.org/entry/166210", "name": "Osteogenesis imperfecta 2", "description": "Osteogenesis imperfecta 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110341" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "uniprot_canonical_ac": "P02452-1" } ], "record_id": "pubmed.3198624", "abstract": "", "glycosylation": [], 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"gene_name": "MMP14", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IUZ5-1", "protein_name": "5-phosphohydroxy-L-lysine phospho-lyase", "gene_name": "PHYKPL", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07711-1", "protein_name": "Procathepsin L", "gene_name": "CTSL", "tax_name": "Human" }, { "uniprot_canonical_ac": "P12110-1", "protein_name": "Collagen alpha-2(VI) chain", "gene_name": "COL6A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14031-1", "protein_name": "Collagen alpha-6(IV) chain", "gene_name": "COL4A6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P20908-1", "protein_name": "Collagen alpha-1(V) chain", "gene_name": "COL5A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02462-1", "protein_name": "Collagen alpha-1(IV) chain", "gene_name": "COL4A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27658-1", "protein_name": "Collagen alpha-1(VIII) chain", "gene_name": "COL8A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08572-1", "protein_name": "Collagen alpha-2(IV) chain", "gene_name": "COL4A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P25067-1", "protein_name": "Collagen alpha-2(VIII) chain", "gene_name": "COL8A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P20849-1", "protein_name": "Collagen alpha-1(IX) chain", "gene_name": "COL9A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P25940-1", "protein_name": "Collagen alpha-3(V) chain", "gene_name": "COL5A3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q01955-1", "protein_name": "Collagen alpha-3(IV) chain", "gene_name": "COL4A3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P45452-1", "protein_name": "Collagenase 3", "gene_name": "MMP13", "tax_name": "Human" }, { "uniprot_canonical_ac": "P24347-1", "protein_name": "Stromelysin-3", "gene_name": "MMP11", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09238-1", "protein_name": "Stromelysin-2", "gene_name": "MMP10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P51511-1", "protein_name": "Matrix metalloproteinase-15", "gene_name": "MMP15", "tax_name": "Human" }, { "uniprot_canonical_ac": "P09237-1", "protein_name": "Matrilysin", "gene_name": "MMP7", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02461-1", "protein_name": "Collagen alpha-1(III) chain", "gene_name": "COL3A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q07092-1", "protein_name": "Collagen alpha-1(XVI) chain", "gene_name": "COL16A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13942-1", "protein_name": "Collagen alpha-2(XI) chain", "gene_name": "COL11A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P29400-1", "protein_name": "Collagen alpha-5(IV) chain", "gene_name": "COL4A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14055-1", "protein_name": "Collagen alpha-2(IX) chain", "gene_name": "COL9A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q99715-1", "protein_name": "Collagen alpha-1(XII) chain", "gene_name": "COL12A1", "tax_name": "Human" }, { 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U.S.A.", "date": "1987", "authors": "Bornstein P, McKay J, Morishima J K, Devarayalu S, Gelinas R E", "reference": { "type": "PubMed", "id": "3480516", "url": "https://pubmed.ncbi.nlm.nih.gov/3480516" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P02452-1", "protein_name": "Collagen alpha-1(I) chain", "gene_name": "COL1A1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.3480516", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": 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"uniprot_canonical_ac": "P31997-1", "protein_name": "Cell adhesion molecule CEACAM8", "gene_name": "CEACAM8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14031-1", "protein_name": "Collagen alpha-6(IV) chain", "gene_name": "COL4A6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P20908-1", "protein_name": "Collagen alpha-1(V) chain", "gene_name": "COL5A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02462-1", "protein_name": "Collagen alpha-1(IV) chain", "gene_name": "COL4A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08572-1", "protein_name": "Collagen alpha-2(IV) chain", "gene_name": "COL4A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P25940-1", "protein_name": "Collagen alpha-3(V) chain", "gene_name": "COL5A3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q01955-1", "protein_name": "Collagen alpha-3(IV) chain", "gene_name": "COL4A3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08648-1", "protein_name": "Integrin alpha-5", "gene_name": "ITGA5", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05556-1", "protein_name": "Integrin beta-1", "gene_name": "ITGB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02461-1", "protein_name": "Collagen alpha-1(III) chain", "gene_name": "COL3A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P29400-1", "protein_name": "Collagen alpha-5(IV) chain", "gene_name": "COL4A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05997-1", "protein_name": "Collagen alpha-2(V) chain", "gene_name": "COL5A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08123-1", "protein_name": "Collagen alpha-2(I) chain", "gene_name": "COL1A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02458-2", "protein_name": "Collagen alpha-1(II) chain", "gene_name": "COL2A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q02388-1", "protein_name": "Collagen alpha-1(VII) chain", "gene_name": "COL7A1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.3872795", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 20 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { 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