[ { "title": "Association of Fyn and Lyn with the proline-rich domain of glycoprotein VI regulates intracellular signaling.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Suzuki-Inoue K, Tulasne D, Shen Y, Bori-Sanz T, Inoue O, Jung SM, Moroi M, Andrews RK, Berndt MC, Watson SP", "reference": { "type": "PubMed", "id": "11943772", "url": "https://pubmed.ncbi.nlm.nih.gov/11943772" }, "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": "P30273-1", "protein_name": "High affinity immunoglobulin epsilon receptor subunit gamma", "gene_name": "FCER1G", "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", 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"12231506", "url": "https://pubmed.ncbi.nlm.nih.gov/12231506" }, "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": "Q13950-1", "protein_name": "Runt-related transcription factor 2", "gene_name": "RUNX2", "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" }, { "uniprot_canonical_ac": "Q96K83-1", "protein_name": "Zinc finger protein 521", "gene_name": "ZNF521", "tax_name": "Human" }, { "uniprot_canonical_ac": 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "Runx2 (Cbfa1, AML-3) interacts with histone deacetylase 6 and represses the p21(CIP1/WAF1) promoter.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Westendorf JJ, Zaidi SK, Cascino JE, Kahler R, van Wijnen AJ, Lian JB, Yoshida M, Stein GS, Li X", "reference": { "type": "PubMed", "id": "12391164", "url": "https://pubmed.ncbi.nlm.nih.gov/12391164" }, "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": "Q07812-1", "protein_name": "Apoptosis regulator BAX", "gene_name": "BAX", "tax_name": 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"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": "P24385-1", "protein_name": "G1/S-specific cyclin-D1", "gene_name": "CCND1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WVF2-1", "protein_name": "Unique cartilage matrix-associated protein", "gene_name": "UCMA", "tax_name": "Human" }, { "uniprot_canonical_ac": "P12643-1", "protein_name": "Bone morphogenetic protein 2", "gene_name": "BMP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q15672-1", "protein_name": "Twist-related protein 1", "gene_name": "TWIST1", "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" }, { "uniprot_canonical_ac": "Q96K83-1", "protein_name": "Zinc finger protein 521", "gene_name": "ZNF521", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11802-1", "protein_name": "Cyclin-dependent kinase 4", "gene_name": "CDK4", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75444-2", "protein_name": "Transcription factor Maf", "gene_name": "MAF", "tax_name": "Human" }, { "uniprot_canonical_ac": "P38936-1", "protein_name": "Cyclin-dependent kinase inhibitor 1", "gene_name": "CDKN1A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P14635-1", "protein_name": "G2/mitotic-specific cyclin-B1", "gene_name": "CCNB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27361-1", "protein_name": "Mitogen-activated protein kinase 3", "gene_name": "MAPK3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y5J3-1", "protein_name": "Hairy/enhancer-of-split related with YRPW motif protein 1", "gene_name": "HEY1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10071-1", "protein_name": "Transcription activator GLI3", "gene_name": "GLI3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61296-1", "protein_name": "Heart- and neural crest derivatives-expressed protein 2", "gene_name": "HAND2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14469-1", "protein_name": "Transcription factor HES-1", "gene_name": "HES1", "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.12391164", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 35 } ], "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": "Analysis of the interactions between BP180, BP230, plectin and the integrin alpha6beta4 important for hemidesmosome assembly.", "journal": "Journal of cell science", "date": "2003", "authors": "Koster J, Geerts D, Favre B, Borradori L, Sonnenberg A", "reference": { "type": "PubMed", "id": "12482924", "url": "https://pubmed.ncbi.nlm.nih.gov/12482924" }, "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": "Q17RW2-1", "protein_name": "Collagen alpha-1(XXIV) chain", "gene_name": "COL24A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07858-1", "protein_name": "Cathepsin B", "gene_name": "CTSB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16144-1", "protein_name": "Integrin beta-4", "gene_name": "ITGB4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P48509-1", "protein_name": "CD151 antigen", "gene_name": "CD151", "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": "Q8IZC6-1", "protein_name": "Collagen alpha-1(XXVII) chain", "gene_name": "COL27A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13647-1", "protein_name": "Keratin, type II cytoskeletal 5", "gene_name": "KRT5", "tax_name": "Human" }, { "uniprot_canonical_ac": "P12107-1", "protein_name": "Collagen alpha-1(XI) chain", "gene_name": "COL11A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q03001-7", "protein_name": "Dystonin", "gene_name": "DST", "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": "P25774-1", "protein_name": "Cathepsin S", "gene_name": "CTSS", "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": "O60911-1", "protein_name": "Cathepsin L2", "gene_name": "CTSV", "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": "Q13753-1", "protein_name": "Laminin subunit gamma-2", "gene_name": "LAMC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P45452-1", "protein_name": "Collagenase 3", "gene_name": "MMP13", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02533-1", "protein_name": "Keratin, type I cytoskeletal 14", "gene_name": "KRT14", "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": "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": "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": "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": "Q15149-1", "protein_name": "Plectin", "gene_name": "PLEC", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q03692-1", "protein_name": "Collagen alpha-1(X) chain", "gene_name": "COL10A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15924-1", "protein_name": "Desmoplakin", "gene_name": "DSP", "tax_name": "Human" }, { "uniprot_canonical_ac": "P23229-1", "protein_name": "Integrin alpha-6", "gene_name": "ITGA6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08254-1", "protein_name": "Stromelysin-1", "gene_name": "MMP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60882-1", "protein_name": "Matrix metalloproteinase-20", "gene_name": "MMP20", "tax_name": "Human" }, { "uniprot_canonical_ac": "P39060-3", "protein_name": "Collagen alpha-1(XVIII) chain", "gene_name": "COL18A1", "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.12482924", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 54 } ], "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": "The class A scavenger receptor binds to proteoglycans and mediates adhesion of macrophages to the extracellular matrix.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Santiago-Garcia J, Kodama T, Pitas RE", "reference": { "type": "PubMed", "id": "12488451", "url": "https://pubmed.ncbi.nlm.nih.gov/12488451" }, "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" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12488451", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 19 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": 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"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" }, { 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"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": "Dermatofibrosarcoma protuberans of breast.", "journal": "Cancer Genet. Cytogenet.", "date": "2003", "authors": "Sandberg Avery A, Anderson William D, Fredenberg Christine, Hashimoto Hiroshi", "reference": { "type": "PubMed", "id": "12660034", "url": "https://pubmed.ncbi.nlm.nih.gov/12660034" }, "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": "P01127-1", "protein_name": "Platelet-derived growth factor subunit B", "gene_name": "PDGFB", "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.12660034", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": 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"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": "SRCL/CL-P1 recognizes GalNAc and a carcinoma-associated antigen, Tn antigen.", "journal": "Journal of biochemistry", "date": "2003", "authors": "Yoshida T, Tsuruta Y, Iwasaki M, Yamane S, Ochi T, Suzuki R", "reference": { "type": "PubMed", "id": "12761161", "url": "https://pubmed.ncbi.nlm.nih.gov/12761161" }, "referenced_glycans": [ { "glytoucan_ac": "G00031MO" }, { 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"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": "Signaling role for phospholipase C gamma 2 in platelet glycoprotein Ib alpha calcium flux and cytoskeletal reorganization. Involvement of a pathway distinct from FcR gamma chain and Fc gamma RIIA.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Mangin P, Yuan Y, Goncalves I, Eckly A, Freund M, Cazenave JP, Gachet C, Jackson SP, Lanza F", "reference": { "type": "PubMed", "id": "12813055", "url": "https://pubmed.ncbi.nlm.nih.gov/12813055" }, "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": "Q05513-1", "protein_name": "Protein kinase C zeta type", "gene_name": "PRKCZ", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61586-1", "protein_name": "Transforming protein RhoA", "gene_name": "RHOA", "tax_name": "Human" }, { "uniprot_canonical_ac": "P43405-1", "protein_name": "Tyrosine-protein kinase SYK", "gene_name": "SYK", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86YL7-1", "protein_name": "Podoplanin", "gene_name": 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"PIK3R3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P63000-1", "protein_name": "Ras-related C3 botulinum toxin substrate 1", "gene_name": "RAC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O00459-1", "protein_name": "Phosphatidylinositol 3-kinase regulatory subunit beta", "gene_name": "PIK3R2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06239-1", "protein_name": "Tyrosine-protein kinase Lck", "gene_name": "LCK", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q06124-2", "protein_name": "Tyrosine-protein phosphatase non-receptor type 11", "gene_name": "PTPN11", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07948-1", "protein_name": "Tyrosine-protein kinase Lyn", "gene_name": "LYN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16885-1", "protein_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2", "gene_name": "PLCG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08123-1", "protein_name": "Collagen alpha-2(I) chain", "gene_name": "COL1A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UKW4-1", "protein_name": "Guanine nucleotide exchange factor VAV3", "gene_name": "VAV3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HCN6-1", "protein_name": "Platelet glycoprotein VI", "gene_name": "GP6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P62745-1", "protein_name": "Rho-related GTP-binding protein RhoB", "gene_name": "RHOB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P42338-1", "protein_name": "Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform", "gene_name": "PIK3CB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15153-1", "protein_name": "Ras-related C3 botulinum toxin substrate 2", "gene_name": "RAC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13094-1", "protein_name": "Lymphocyte cytosolic protein 2", "gene_name": "LCP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27986-1", "protein_name": "Phosphatidylinositol 3-kinase regulatory subunit alpha", "gene_name": "PIK3R1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06241-1", "protein_name": "Tyrosine-protein kinase Fyn", "gene_name": "FYN", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15530-1", "protein_name": "3-phosphoinositide-dependent protein kinase 1", "gene_name": "PDPK1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15498-1", "protein_name": "Proto-oncogene vav", "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]" } ], "record_id": "pubmed.12813055", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 35 } ], "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", 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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": "Integrin alpha IIb beta 3-dependent calcium signals regulate platelet-fibrinogen interactions under flow. Involvement of phospholipase C gamma 2.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Goncalves I, Hughan SC, Schoenwaelder SM, Yap CL, Yuan Y, Jackson SP", "reference": { "type": "PubMed", "id": "12832405", "url": "https://pubmed.ncbi.nlm.nih.gov/12832405" }, "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": "Q05513-1", "protein_name": "Protein kinase C zeta type", "gene_name": "PRKCZ", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61586-1", "protein_name": "Transforming protein RhoA", "gene_name": "RHOA", "tax_name": "Human" }, { "uniprot_canonical_ac": "P43405-1", "protein_name": "Tyrosine-protein kinase SYK", "gene_name": "SYK", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86YL7-1", "protein_name": "Podoplanin", "gene_name": "PDPN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P126-1", "protein_name": "C-type lectin domain family 1 member B", "gene_name": "CLEC1B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P42336-1", "protein_name": "Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform", "gene_name": "PIK3CA", "tax_name": "Human" }, { "uniprot_canonical_ac": "P30273-1", "protein_name": "High affinity immunoglobulin epsilon receptor subunit gamma", "gene_name": "FCER1G", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5UE93-1", "protein_name": "Phosphoinositide 3-kinase regulatory subunit 6", "gene_name": "PIK3R6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P48736-1", "protein_name": "Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform", "gene_name": "PIK3CG", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43561-1", "protein_name": "Linker for activation of T-cells family member 1", "gene_name": "LAT", "tax_name": "Human" }, { "uniprot_canonical_ac": "P84095-1", "protein_name": "Rho-related GTP-binding protein RhoG", "gene_name": "RHOG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P29350-1", "protein_name": "Tyrosine-protein phosphatase non-receptor type 6", "gene_name": "PTPN6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WYR1-1", "protein_name": "Phosphoinositide 3-kinase regulatory subunit 5", "gene_name": "PIK3R5", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95866-1", "protein_name": "Megakaryocyte and platelet inhibitory receptor G6b", "gene_name": "MPIG6B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P52735-1", "protein_name": "Guanine nucleotide exchange factor VAV2", "gene_name": "VAV2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P60953-2", "protein_name": "Cell division control protein 42 homolog", "gene_name": "CDC42", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92569-1", "protein_name": "Phosphatidylinositol 3-kinase regulatory subunit gamma", "gene_name": "PIK3R3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P63000-1", "protein_name": "Ras-related C3 botulinum toxin substrate 1", "gene_name": "RAC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O00459-1", "protein_name": "Phosphatidylinositol 3-kinase regulatory subunit beta", "gene_name": "PIK3R2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06239-1", "protein_name": "Tyrosine-protein kinase Lck", "gene_name": "LCK", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q06124-2", "protein_name": "Tyrosine-protein phosphatase non-receptor type 11", "gene_name": "PTPN11", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07948-1", "protein_name": "Tyrosine-protein kinase Lyn", "gene_name": "LYN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16885-1", "protein_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2", "gene_name": "PLCG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08123-1", "protein_name": "Collagen alpha-2(I) chain", "gene_name": "COL1A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UKW4-1", "protein_name": "Guanine nucleotide exchange factor VAV3", "gene_name": "VAV3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HCN6-1", "protein_name": "Platelet glycoprotein VI", "gene_name": "GP6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P62745-1", "protein_name": "Rho-related GTP-binding protein RhoB", "gene_name": "RHOB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P42338-1", "protein_name": "Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform", "gene_name": "PIK3CB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15153-1", "protein_name": "Ras-related C3 botulinum toxin substrate 2", "gene_name": "RAC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13094-1", "protein_name": "Lymphocyte cytosolic protein 2", "gene_name": "LCP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27986-1", "protein_name": "Phosphatidylinositol 3-kinase regulatory subunit alpha", "gene_name": "PIK3R1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06241-1", "protein_name": "Tyrosine-protein kinase Fyn", "gene_name": "FYN", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15530-1", "protein_name": "3-phosphoinositide-dependent protein kinase 1", "gene_name": "PDPK1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15498-1", "protein_name": "Proto-oncogene vav", "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]" } ], "record_id": "pubmed.12832405", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 35 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", 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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": "Identification of uteroglobin-related protein 1 and macrophage scavenger receptor with collagenous structure as a lung-specific ligand-receptor pair.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2003", "authors": "Bin LH, Nielson LD, Liu X, Mason RJ, Shu HB", "reference": { "type": "PubMed", "id": "12847263", "url": "https://pubmed.ncbi.nlm.nih.gov/12847263" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P02452-1", "protein_name": "Collagen 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"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" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12847263", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 19 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", 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"2003", "authors": "Matsubara Y, Murata M, Sugita K, Ikeda Y", "reference": { "type": "PubMed", "id": "14521605", "url": "https://pubmed.ncbi.nlm.nih.gov/14521605" }, "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" } ], "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]" } ], "mutagenesis": [ { "start_pos": 249, "end_pos": 249, "sequence_org": "G", "sequence_mut": "A", "comment": "No change.", "evidence": [ { "database": "UniProtKB", "id": "P07359", "url": "https://www.uniprot.org/uniprotkb/P07359" }, { "database": "PubMed", "id": "14521605", "url": "https://pubmed.ncbi.nlm.nih.gov/14521605" } ], "uniprot_canonical_ac": "P07359-1" }, { "start_pos": 249, "end_pos": 249, "sequence_org": "G", "sequence_mut": "D", "comment": "Decreased binding to vWF.", "evidence": [ { "database": "UniProtKB", "id": "P07359", "url": "https://www.uniprot.org/uniprotkb/P07359" }, { "database": 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"Type I procollagens containing substitutions of aspartate, arginine, and cysteine for glycine in the pro alpha 1 (I) chain are cleaved slowly by N-proteinase, but only the cysteine substitution introduces a kink in the molecule.", "journal": "The Journal of biological chemistry", "date": "1992-12-15", "authors": "Lightfoot S J, Holmes D F, Brass A, Grant M E, Byers P H, Kadler K E", "reference": { "type": "PubMed", "id": "1460046", "url": "https://pubmed.ncbi.nlm.nih.gov/1460046" }, "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.1460046", "abstract": "", "glycosylation": [], 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"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.14609958", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 19 } ], "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 }, 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "TRAM2 protein interacts with endoplasmic reticulum Ca2+ pump Serca2b and is necessary for collagen type I synthesis.", "journal": "Mol. Cell. Biol.", "date": "2004", "authors": "Stefanovic B, Stefanovic L, Schnabl B, Bataller R, Brenner DA", "reference": { "type": "PubMed", "id": "14749390", "url": "https://pubmed.ncbi.nlm.nih.gov/14749390" }, "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": "P16615-1", "protein_name": "Sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "gene_name": "ATP2A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O55143-1", "protein_name": "Sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "gene_name": "Atp2a2", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q15035-1", "protein_name": "Translocating chain-associated membrane protein 2", "gene_name": "TRAM2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q924Z5-1", "protein_name": "Translocating chain-associated membrane protein 2", "gene_name": "Tram2", "tax_name": "Mouse" } ], 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "Tyrosine phosphorylation controls Runx2-mediated subnuclear targeting of YAP to repress transcription.", "journal": "The EMBO journal", "date": "2004", "authors": "Zaidi SK, Sullivan AJ, Medina R, Ito Y, van Wijnen AJ, Stein JL, Lian JB, Stein GS", "reference": { "type": "PubMed", "id": "14765127", "url": "https://pubmed.ncbi.nlm.nih.gov/14765127" }, "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" }, { 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}, { "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": "Q15149-1", "protein_name": "Plectin", "gene_name": "PLEC", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q03692-1", "protein_name": "Collagen alpha-1(X) chain", "gene_name": "COL10A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P23229-1", "protein_name": "Integrin alpha-6", "gene_name": "ITGA6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08254-1", "protein_name": "Stromelysin-1", "gene_name": "MMP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60882-1", "protein_name": "Matrix metalloproteinase-20", "gene_name": "MMP20", "tax_name": "Human" }, { "uniprot_canonical_ac": "P39060-3", "protein_name": "Collagen alpha-1(XVIII) chain", "gene_name": "COL18A1", "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.15265795", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 50 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, 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"Q05513-1", "protein_name": "Protein kinase C zeta type", "gene_name": "PRKCZ", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61586-1", "protein_name": "Transforming protein RhoA", "gene_name": "RHOA", "tax_name": "Human" }, { "uniprot_canonical_ac": "P43405-1", "protein_name": "Tyrosine-protein kinase SYK", "gene_name": "SYK", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86YL7-1", "protein_name": "Podoplanin", "gene_name": "PDPN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P126-1", "protein_name": "C-type lectin domain family 1 member B", "gene_name": "CLEC1B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P42336-1", "protein_name": "Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform", "gene_name": "PIK3CA", "tax_name": "Human" }, { "uniprot_canonical_ac": "P30273-1", "protein_name": "High affinity immunoglobulin epsilon receptor subunit gamma", "gene_name": "FCER1G", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q5UE93-1", "protein_name": "Phosphoinositide 3-kinase regulatory subunit 6", "gene_name": "PIK3R6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P48736-1", "protein_name": "Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform", "gene_name": "PIK3CG", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43561-1", "protein_name": "Linker for activation of T-cells family member 1", "gene_name": "LAT", "tax_name": "Human" }, { "uniprot_canonical_ac": "P84095-1", "protein_name": "Rho-related GTP-binding protein RhoG", "gene_name": "RHOG", "tax_name": "Human" }, { "uniprot_canonical_ac": "P29350-1", "protein_name": "Tyrosine-protein phosphatase non-receptor type 6", "gene_name": "PTPN6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WYR1-1", "protein_name": "Phosphoinositide 3-kinase regulatory subunit 5", "gene_name": "PIK3R5", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95866-1", "protein_name": "Megakaryocyte and platelet inhibitory receptor G6b", "gene_name": "MPIG6B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P52735-1", "protein_name": "Guanine nucleotide exchange factor VAV2", "gene_name": "VAV2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P60953-2", "protein_name": "Cell division control protein 42 homolog", "gene_name": "CDC42", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92569-1", "protein_name": "Phosphatidylinositol 3-kinase regulatory subunit gamma", "gene_name": "PIK3R3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P63000-1", "protein_name": "Ras-related C3 botulinum toxin substrate 1", "gene_name": "RAC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O00459-1", "protein_name": "Phosphatidylinositol 3-kinase regulatory subunit beta", "gene_name": "PIK3R2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06239-1", "protein_name": "Tyrosine-protein kinase Lck", "gene_name": "LCK", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q06124-2", "protein_name": "Tyrosine-protein phosphatase non-receptor type 11", "gene_name": "PTPN11", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07948-1", "protein_name": "Tyrosine-protein kinase Lyn", "gene_name": "LYN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16885-1", "protein_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2", "gene_name": "PLCG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08123-1", "protein_name": "Collagen alpha-2(I) chain", "gene_name": "COL1A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UKW4-1", "protein_name": "Guanine nucleotide exchange factor VAV3", "gene_name": "VAV3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HCN6-1", "protein_name": "Platelet glycoprotein VI", "gene_name": "GP6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P62745-1", "protein_name": "Rho-related GTP-binding protein RhoB", "gene_name": "RHOB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P42338-1", "protein_name": "Phosphatidylinositol 4,5-bisphosphate 3-kinase 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"UniProtKB", "id": "P02452", "url": "https://www.uniprot.org/uniprotkb/P02452" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 173, "end_pos": 173, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "PRO", "id": "Q9UKW4", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q9UKW4" }, { "database": "iPTMnet", "id": "Q9UKW4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UKW4" }, { "database": "PubMed", "id": "11917103", "url": "https://pubmed.ncbi.nlm.nih.gov/11917103" }, { "database": "PubMed", "id": "15708849", "url": "https://pubmed.ncbi.nlm.nih.gov/15708849" } ], "site_lbl": "Tyr173", "uniprot_canonical_ac": "Q9UKW4-1" } ], "record_id": "pubmed.15708849", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": 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"P12111-1", "protein_name": "Collagen alpha-3(VI) chain", "gene_name": "COL6A3", "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": "Q15149-1", "protein_name": "Plectin", "gene_name": "PLEC", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q03692-1", "protein_name": "Collagen alpha-1(X) chain", "gene_name": "COL10A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P23229-1", "protein_name": "Integrin alpha-6", "gene_name": "ITGA6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08254-1", "protein_name": "Stromelysin-1", "gene_name": "MMP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O60882-1", "protein_name": "Matrix metalloproteinase-20", "gene_name": "MMP20", "tax_name": "Human" }, { "uniprot_canonical_ac": "P39060-3", "protein_name": "Collagen alpha-1(XVIII) chain", "gene_name": "COL18A1", "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.15837520", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 50 } ], "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 novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.", "journal": "The Journal of clinical investigation", "date": "2005", "authors": "Gensure RC, Makitie O, Barclay C, Chan C, Depalma SR, Bastepe M, Abuzahra H, Couper R, Mundlos S, Sillence D, Ala Kokko L, Seidman JG, Cole WG, Juppner H", "reference": { "type": "PubMed", "id": "15864348", "url": "https://pubmed.ncbi.nlm.nih.gov/15864348" }, "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": "rs72653170", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs72653170" }, { "id": "rs72653170", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs72653170" }, { "id": "rs72653170", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs72653170" }, { "id": "15864348", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15864348" }, { "id": "17309652", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17309652" }, { "id": "18553566", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18553566" } ], "glycoeffect": [], "start_pos": 1014, "end_pos": 1014, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50188908", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1014", "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: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: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. 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"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.15864348", "abstract": "", "glycosylation": [], 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}, { "uniprot_canonical_ac": "O00459-1", "protein_name": "Phosphatidylinositol 3-kinase regulatory subunit beta", "gene_name": "PIK3R2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06239-1", "protein_name": "Tyrosine-protein kinase Lck", "gene_name": "LCK", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q06124-2", "protein_name": "Tyrosine-protein phosphatase non-receptor type 11", "gene_name": "PTPN11", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07948-1", "protein_name": "Tyrosine-protein kinase Lyn", "gene_name": "LYN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16885-1", "protein_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2", "gene_name": "PLCG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P48025-1", "protein_name": "Tyrosine-protein kinase SYK", "gene_name": "Syk", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q9JL99-1", "protein_name": "C-type lectin domain family 1 member B", "gene_name": "Clec1b", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "P08123-1", "protein_name": "Collagen alpha-2(I) chain", "gene_name": "COL1A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UKW4-1", "protein_name": "Guanine nucleotide exchange factor VAV3", "gene_name": "VAV3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HCN6-1", "protein_name": "Platelet glycoprotein VI", "gene_name": "GP6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P62745-1", "protein_name": "Rho-related GTP-binding protein RhoB", "gene_name": "RHOB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P42338-1", "protein_name": "Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform", "gene_name": "PIK3CB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15153-1", "protein_name": "Ras-related C3 botulinum toxin substrate 2", "gene_name": "RAC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13094-1", "protein_name": "Lymphocyte cytosolic protein 2", "gene_name": "LCP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27986-1", "protein_name": "Phosphatidylinositol 3-kinase regulatory subunit alpha", "gene_name": "PIK3R1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06241-1", "protein_name": "Tyrosine-protein kinase Fyn", "gene_name": "FYN", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15530-1", "protein_name": "3-phosphoinositide-dependent protein kinase 1", "gene_name": "PDPK1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15498-1", "protein_name": "Proto-oncogene vav", "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": 7, "end_pos": 7, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "Q9JL99", "url": "https://www.uniprot.org/uniprotkb/Q9JL99" }, { "database": "PubMed", "id": "16174766", "url": "https://pubmed.ncbi.nlm.nih.gov/16174766" }, { "database": "iPTMnet", "id": "Q9JL99", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JL99" } ], "site_lbl": "Tyr7", "uniprot_canonical_ac": "Q9JL99-1" } ], "record_id": "pubmed.16174766", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 37 } ], "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 }, { 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"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": 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"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: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" } ] } ], "uniprot_canonical_ac": "P02452-1" } ], "record_id": "pubmed.1634225", "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": [ { 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"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" }, { "uniprot_canonical_ac": "Q96K83-1", "protein_name": "Zinc finger protein 521", "gene_name": "ZNF521", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75444-2", "protein_name": "Transcription factor Maf", "gene_name": "MAF", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27361-1", "protein_name": "Mitogen-activated protein kinase 3", "gene_name": "MAPK3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y5J3-1", "protein_name": "Hairy/enhancer-of-split related with YRPW motif protein 1", "gene_name": "HEY1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10071-1", "protein_name": "Transcription activator GLI3", "gene_name": "GLI3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14469-1", "protein_name": "Transcription factor HES-1", "gene_name": "HES1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8VI24-1", "protein_name": "DNA-binding protein SATB2", "gene_name": "Satb2", "tax_name": "Mouse" }, { "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.16751105", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 26 } ], "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", 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Direct interaction of focal adhesion kinase (FAK) with Met is required for FAK to promote hepatocyte growth factor-induced cell invasion.", "journal": "Molecular and cellular biology", "date": "2006", "authors": "Chen SY, Chen HC", "reference": { "type": "PubMed", "id": "16782899", "url": "https://pubmed.ncbi.nlm.nih.gov/16782899" }, "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": "Q17RW2-1", "protein_name": "Collagen alpha-1(XXIV) chain", "gene_name": "COL24A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02751-15", "protein_name": "Fibronectin", "gene_name": "FN1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IZC6-1", "protein_name": "Collagen alpha-1(XXVII) chain", "gene_name": "COL27A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P12107-1", "protein_name": "Collagen alpha-1(XI) chain", "gene_name": "COL11A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q05397-1", "protein_name": "Focal adhesion kinase 1", "gene_name": "PTK2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P20908-1", "protein_name": "Collagen alpha-1(V) chain", "gene_name": "COL5A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P25940-1", "protein_name": "Collagen alpha-3(V) chain", "gene_name": "COL5A3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07942-1", "protein_name": "Laminin subunit beta-1", "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 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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": "P13942-1", "protein_name": "Collagen alpha-2(XI) chain", "gene_name": "COL11A2", "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": "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]" } ], "phosphorylation": [ { "start_pos": 194, "end_pos": 194, "kinase_uniprot_canonical_ac": "P08581-1", "kinase_gene_name": "MET", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q05397", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q05397" }, { "database": "PubMed", "id": "20802513", "url": 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"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": 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"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": 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"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.1704217", "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": 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Dalgleish Raymond, Byers Peter H", "reference": { "type": "PubMed", "id": "17078022", "url": "https://pubmed.ncbi.nlm.nih.gov/17078022" }, "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": "P08123-1", "protein_name": "Collagen alpha-2(I) chain", "gene_name": "COL1A2", "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.17078022", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", 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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": "Enzymatic processing of collagen IV by MMP-2 (gelatinase A) affects neutrophil migration and it is modulated by extracatalytic domains.", "journal": "Protein science : a publication of the Protein Society", "date": "2006", "authors": "Monaco S, Sparano V, Gioia M, Sbardella D, Di Pierro D, Marini S, Coletta M", "reference": { "type": "PubMed", "id": "17088321", "url": "https://pubmed.ncbi.nlm.nih.gov/17088321" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P02452-1", 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"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": 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"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": "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": "Q96P44-1", "protein_name": "Collagen alpha-1(XXI) chain", "gene_name": "COL21A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "A8TX70-1", "protein_name": "Collagen alpha-5(VI) chain", "gene_name": "COL6A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2UY09-1", "protein_name": "Collagen alpha-1(XXVIII) chain", "gene_name": "COL28A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05997-1", "protein_name": "Collagen alpha-2(V) chain", "gene_name": "COL5A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NFW1-1", "protein_name": "Collagen alpha-1(XXII) chain", "gene_name": "COL22A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "A6NMZ7-1", "protein_name": "Collagen alpha-6(VI) chain", "gene_name": "COL6A6", "tax_name": "Human" }, { "uniprot_canonical_ac": 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"referenced_proteins", "table_stats": [ { "field": "total", "count": 44 } ], "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", 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The mutation provides direct evidence for three discrete domains of cooperative melting of intact type I collagen.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Deak SB, Scholz PM, Amenta PS, Constantinou CD, Levi-Minzi SA, Gonzalez-Lavin L, Mackenzie JW", "reference": { "type": "PubMed", "id": "1718984", "url": "https://pubmed.ncbi.nlm.nih.gov/1718984" }, "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": "rs66721653", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs66721653" }, { "id": "rs66721653", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs66721653" }, { "id": "1718984", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1718984" } ], "glycoeffect": [], "start_pos": 353, "end_pos": 353, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50195665", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G353", "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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"sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50188908", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1014", "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: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: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: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.17309652", "abstract": "", "glycosylation": [], 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"tax_name": "Human" }, { "uniprot_canonical_ac": "P42336-1", "protein_name": "Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform", "gene_name": "PIK3CA", "tax_name": "Human" }, { "uniprot_canonical_ac": "P30273-1", "protein_name": "High affinity immunoglobulin epsilon receptor subunit gamma", "gene_name": "FCER1G", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q62011-1", "protein_name": "Podoplanin", "gene_name": "Pdpn", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q5UE93-1", "protein_name": "Phosphoinositide 3-kinase regulatory subunit 6", "gene_name": "PIK3R6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P48736-1", "protein_name": "Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform", "gene_name": "PIK3CG", "tax_name": "Human" }, { "uniprot_canonical_ac": "O43561-1", "protein_name": "Linker for activation of T-cells family member 1", "gene_name": "LAT", "tax_name": "Human" }, { "uniprot_canonical_ac": "P84095-1", 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"uniprot_canonical_ac": "P63000-1", "protein_name": "Ras-related C3 botulinum toxin substrate 1", "gene_name": "RAC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O00459-1", "protein_name": "Phosphatidylinositol 3-kinase regulatory subunit beta", "gene_name": "PIK3R2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06239-1", "protein_name": "Tyrosine-protein kinase Lck", "gene_name": "LCK", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q06124-2", "protein_name": "Tyrosine-protein phosphatase non-receptor type 11", "gene_name": "PTPN11", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07948-1", "protein_name": "Tyrosine-protein kinase Lyn", "gene_name": "LYN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16885-1", "protein_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2", "gene_name": "PLCG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9JL99-1", "protein_name": "C-type lectin domain family 1 member B", "gene_name": "Clec1b", 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"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": "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: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" } ], "record_id": "pubmed.1770532", "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", 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients.", "journal": "Pediatrics international : official journal of the Japan Pediatric Society", "date": "2007", "authors": "Kataoka K, Ogura E, Hasegawa K, Inoue M, Seino Y, Morishima T, Tanaka H", "reference": { "type": "PubMed", "id": "17875077", "url": "https://pubmed.ncbi.nlm.nih.gov/17875077" }, "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.17875077", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], 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A", "date": "2008", "authors": "Giunta Cecilia, Chambaz C\u00e9line, Pedemonte Marina, Scapolan Sara, Steinmann Beat", "reference": { "type": "PubMed", "id": "18409203", "url": "https://pubmed.ncbi.nlm.nih.gov/18409203" }, "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.18409203", "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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"o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Recognition and plasma clearance of endotoxin by scavenger receptors.", "journal": "Nature", "date": "1991", "authors": "Hampton RY, Golenbock DT, Penman M, Krieger M, Raetz CR", "reference": { "type": "PubMed", "id": "1852209", "url": "https://pubmed.ncbi.nlm.nih.gov/1852209" }, "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", 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Part A", "date": "2008-07-15", "authors": "Kamoun-Goldrat Agn\u00e8s, Martinovic Jelena, Saada Julien, Sonigo-Cohen Pascale, Razavi Ferechte, Munnich Arnold, Le Merrer Martine", "reference": { "type": "PubMed", "id": "18553566", "url": "https://pubmed.ncbi.nlm.nih.gov/18553566" }, "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": "rs72653170", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs72653170" }, { "id": "rs72653170", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs72653170" }, { "id": "rs72653170", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs72653170" }, { "id": "15864348", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15864348" }, { "id": "17309652", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17309652" }, { "id": "18553566", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/18553566" } ], "glycoeffect": [], "start_pos": 1014, "end_pos": 1014, "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50188908", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1014", "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. 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"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 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"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": 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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. 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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": "Disintegrin 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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": 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Repression of Runx2 by androgen receptor (AR) in osteoblasts and prostate cancer cells: AR binds Runx2 and abrogates its recruitment to DNA.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2009", "authors": "Baniwal SK, Khalid O, Sir D, Buchanan G, Coetzee GA, Frenkel B", "reference": { "type": "PubMed", "id": "19389811", "url": "https://pubmed.ncbi.nlm.nih.gov/19389811" }, "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" }, { 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{ "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": "Q76LX8-1", "protein_name": "A disintegrin and metalloproteinase with thrombospondin motifs 13", "gene_name": "ADAMTS13", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75578-1", "protein_name": "Integrin alpha-10", "gene_name": "ITGA10", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07948-1", "protein_name": "Tyrosine-protein kinase Lyn", "gene_name": "LYN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P05556-1", "protein_name": "Integrin beta-1", "gene_name": "ITGB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08123-1", "protein_name": "Collagen 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"tax_name": "Human" }, { "uniprot_canonical_ac": "P07948-1", "protein_name": "Tyrosine-protein kinase Lyn", "gene_name": "LYN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16885-1", "protein_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2", "gene_name": "PLCG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08123-1", "protein_name": "Collagen alpha-2(I) chain", "gene_name": "COL1A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UKW4-1", "protein_name": "Guanine nucleotide exchange factor VAV3", "gene_name": "VAV3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HCN6-1", "protein_name": "Platelet glycoprotein VI", "gene_name": "GP6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P62745-1", "protein_name": "Rho-related GTP-binding protein RhoB", "gene_name": "RHOB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P42338-1", "protein_name": "Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform", "gene_name": 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1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution.", "journal": "The Biochemical journal", "date": "1991", "authors": "Steinmann B, Westerhausen A, Constantinou CD, Superti-Furga A, Prockop DJ", "reference": { "type": "PubMed", "id": "1953667", "url": "https://pubmed.ncbi.nlm.nih.gov/1953667" }, "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.1953667", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": 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J", "reference": { "type": "PubMed", "id": "19687512", "url": "https://pubmed.ncbi.nlm.nih.gov/19687512" }, "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": "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" } ], "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.19687512", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", 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"gene_name": "PIK3R5", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95866-1", "protein_name": "Megakaryocyte and platelet inhibitory receptor G6b", "gene_name": "MPIG6B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P52735-1", "protein_name": "Guanine nucleotide exchange factor VAV2", "gene_name": "VAV2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P60953-2", "protein_name": "Cell division control protein 42 homolog", "gene_name": "CDC42", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92569-1", "protein_name": "Phosphatidylinositol 3-kinase regulatory subunit gamma", "gene_name": "PIK3R3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P63000-1", "protein_name": "Ras-related C3 botulinum toxin substrate 1", "gene_name": "RAC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O00459-1", "protein_name": "Phosphatidylinositol 3-kinase regulatory subunit beta", "gene_name": "PIK3R2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06239-1", "protein_name": "Tyrosine-protein kinase Lck", "gene_name": "LCK", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q06124-2", "protein_name": "Tyrosine-protein phosphatase non-receptor type 11", "gene_name": "PTPN11", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07948-1", "protein_name": "Tyrosine-protein kinase Lyn", "gene_name": "LYN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16885-1", "protein_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2", "gene_name": "PLCG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08123-1", "protein_name": "Collagen alpha-2(I) chain", "gene_name": "COL1A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UKW4-1", "protein_name": "Guanine nucleotide exchange factor VAV3", "gene_name": "VAV3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9HCN6-1", "protein_name": "Platelet glycoprotein VI", "gene_name": "GP6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P62745-1", "protein_name": "Rho-related GTP-binding protein RhoB", "gene_name": "RHOB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P42338-1", "protein_name": "Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform", "gene_name": "PIK3CB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15153-1", "protein_name": "Ras-related C3 botulinum toxin substrate 2", "gene_name": "RAC2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13094-1", "protein_name": "Lymphocyte cytosolic protein 2", "gene_name": "LCP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27986-1", "protein_name": "Phosphatidylinositol 3-kinase regulatory subunit alpha", "gene_name": "PIK3R1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06241-1", "protein_name": "Tyrosine-protein kinase Fyn", "gene_name": "FYN", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15530-1", "protein_name": "3-phosphoinositide-dependent protein kinase 1", "gene_name": "PDPK1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P15498-1", "protein_name": "Proto-oncogene vav", "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]" } ], "record_id": "pubmed.19700402", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 35 } ], "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": "Identification and functional characterization of ERK/MAPK phosphorylation sites in the Runx2 transcription factor.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Ge C, Xiao G, Jiang D, Yang Q, Hatch NE, Roca H, Franceschi RT", "reference": { "type": "PubMed", "id": "19801668", "url": "https://pubmed.ncbi.nlm.nih.gov/19801668" }, "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": "Q13950-1", "protein_name": "Runt-related transcription factor 2", "gene_name": "RUNX2", "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" }, { "uniprot_canonical_ac": "Q96K83-1", "protein_name": "Zinc finger protein 521", "gene_name": "ZNF521", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75444-2", "protein_name": "Transcription factor Maf", "gene_name": "MAF", "tax_name": "Human" }, { "uniprot_canonical_ac": "P27361-1", "protein_name": "Mitogen-activated protein kinase 3", "gene_name": "MAPK3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9Y5J3-1", "protein_name": "Hairy/enhancer-of-split related with YRPW motif protein 1", "gene_name": "HEY1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P10071-1", "protein_name": "Transcription activator GLI3", "gene_name": "GLI3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14469-1", "protein_name": "Transcription factor HES-1", "gene_name": "HES1", "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]" } ], "phosphorylation": [ { "start_pos": 294, "end_pos": 294, "kinase_uniprot_canonical_ac": "P27361-1", "kinase_gene_name": "MAPK3", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q13950", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q13950" }, { "database": "PubMed", "id": "19801668", "url": "https://pubmed.ncbi.nlm.nih.gov/19801668" } ], "site_lbl": "Ser294", "uniprot_canonical_ac": "Q13950-1" }, { "start_pos": 312, "end_pos": 312, "kinase_uniprot_canonical_ac": "P27361-1", "kinase_gene_name": "MAPK3", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q13950", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q13950" }, { "database": "PubMed", "id": "19801668", "url": "https://pubmed.ncbi.nlm.nih.gov/19801668" } ], "site_lbl": "Ser312", "uniprot_canonical_ac": "Q13950-1" } ], "record_id": "pubmed.19801668", "abstract": "", "glycosylation": [], 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"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": "Phosphatidylinositol-3-kinase-dependent phosphorylation of SLP-76 by the lymphoma-associated ITK-SYK fusion-protein.", "journal": "Biochemical and biophysical research communications", "date": "2009", "authors": "Hussain A, Faryal R, Nore BF, Mohamed AJ, Smith CI", "reference": { "type": "PubMed", "id": "19850008", "url": "https://pubmed.ncbi.nlm.nih.gov/19850008" }, "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": "Q05513-1", "protein_name": "Protein kinase C zeta type", "gene_name": "PRKCZ", "tax_name": "Human" }, { "uniprot_canonical_ac": "P61586-1", "protein_name": "Transforming protein RhoA", "gene_name": "RHOA", "tax_name": "Human" }, { "uniprot_canonical_ac": "P43405-1", "protein_name": "Tyrosine-protein kinase SYK", "gene_name": "SYK", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q86YL7-1", "protein_name": "Podoplanin", "gene_name": "PDPN", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9P126-1", "protein_name": "C-type lectin domain family 1 member B", "gene_name": 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"uniprot_canonical_ac": "P29350-1", "protein_name": "Tyrosine-protein phosphatase non-receptor type 6", "gene_name": "PTPN6", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WYR1-1", "protein_name": "Phosphoinositide 3-kinase regulatory subunit 5", "gene_name": "PIK3R5", "tax_name": "Human" }, { "uniprot_canonical_ac": "O95866-1", "protein_name": "Megakaryocyte and platelet inhibitory receptor G6b", "gene_name": "MPIG6B", "tax_name": "Human" }, { "uniprot_canonical_ac": "P52735-1", "protein_name": "Guanine nucleotide exchange factor VAV2", "gene_name": "VAV2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P60953-2", "protein_name": "Cell division control protein 42 homolog", "gene_name": "CDC42", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92569-1", "protein_name": "Phosphatidylinositol 3-kinase regulatory subunit gamma", "gene_name": "PIK3R3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P63000-1", "protein_name": "Ras-related C3 botulinum toxin substrate 1", "gene_name": "RAC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O00459-1", "protein_name": "Phosphatidylinositol 3-kinase regulatory subunit beta", "gene_name": "PIK3R2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P06239-1", "protein_name": "Tyrosine-protein kinase Lck", "gene_name": "LCK", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q06124-2", "protein_name": "Tyrosine-protein phosphatase non-receptor type 11", "gene_name": "PTPN11", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07948-1", "protein_name": "Tyrosine-protein kinase Lyn", "gene_name": "LYN", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16885-1", "protein_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2", "gene_name": "PLCG2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08123-1", "protein_name": "Collagen alpha-2(I) chain", "gene_name": "COL1A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UKW4-1", "protein_name": "Guanine nucleotide exchange factor 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"title": "A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Valli M, Mottes M, Tenni R, Sangalli A, Gomez Lira M, Rossi A, Antoniazzi F, Cetta G, Pignatti PF", "reference": { "type": "PubMed", "id": "1988452", "url": "https://pubmed.ncbi.nlm.nih.gov/1988452" }, "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": "rs72645365", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs72645365" }, { "id": "rs72645365", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs72645365" }, { "id": "1988452", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1988452" } ], "glycoeffect": [], "start_pos": 356, "end_pos": 356, "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, collagen.", "chr_id": "17", "chr_pos": "50195656", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G356", "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. 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": 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