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    {
        "title": "Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins.",
        "journal": "Blood",
        "date": "2001",
        "authors": "Bodo I, Katsumi A, Tuley EA, Eikenboom JC, Dong Z, Sadler JE",
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                        "id": "11698279",
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                ],
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                "minor_allelic_frequency": "",
                "site_lbl": "C1149",
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                            "description": "A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13."
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                            {
                                "id": "DOID:0060573",
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                                "url": "https://disease-ontology.org/term/DOID:0060573",
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                            },
                            {
                                "id": "DOID:0060573",
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                            {
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                                "name": "von Willebrand disease type I",
                                "description": ""
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008668",
                                "name": "von Willebrand disease 1",
                                "description": "Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF)."
                            },
                            {
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                            },
                            {
                                "id": "MONDO:0008668",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008668",
                                "name": "von Willebrand disease 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008668",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0008668",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0008668",
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                                "description": ""
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                            "url": "https://disease-ontology.org/term/DOID:0060574",
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                            "description": "A von Willebrand's disease characterized by qualitative but not quantitative abnormalities of the VWF protein that has_material_basis_in mutation in the VWF gene which maps to chromosome 12p13."
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                                "description": ""
                            },
                            {
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                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:0060574",
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                                "description": ""
                            },
                            {
                                "id": "DOID:0060574",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060574",
                                "name": "von Willebrand disease type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013304",
                                "resource": "MONDO",
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                                "description": "Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF)."
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                                "resource": "MONDO",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0013304",
                                "name": "von Willebrand disease 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013304",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013304",
                                "name": "von Willebrand disease type 2",
                                "description": ""
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                            {
                                "id": "MONDO:0013304",
                                "resource": "MONDO",
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                            {
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                                "description": ""
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                                "description": ""
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                                "url": "https://www.omim.org/entry/613554",
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                                "description": "von Willebrand disease 2"
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        ]
    },
    {
        "title": "Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A.",
        "journal": "British journal of haematology",
        "date": "2002",
        "authors": "Mazurier C, Parquet-Gernez A, Gaucher C, Lavergne JM, Goudemand J",
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            {
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                "protein_name": "Coagulation factor VIII",
                "gene_name": "F8",
                "tax_name": "Human"
            }
        ],
        "species": [
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        ],
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        "authors": "Chion Alain, O'Sullivan Jamie M, Drakeford Clive, Bergsson Gudmundur, Dalton Niall, Aguila Sonia, Ward Soracha, Fallon Padraic G, Brophy Teresa M, Preston Roger J S, Brady Lauren, Sheils Orla, Laffan Michael, McKinnon Thomas A J, O'Donnell James S",
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        "title": "Long-ranged Protein-glycan Interactions Stabilize von Willebrand Factor A2 Domain from Mechanical Unfolding.",
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        "date": "2018-10-30",
        "authors": "Dong Chuqiao, Lee Jumin, Kim Seonghoon, Lai Whitney, Webb Edmund B, Oztekin Alparslan, Zhang X Frank, Im Wonpil",
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    {
        "title": "von Willebrand factor is a useful biomarker for liver fibrosis and prediction of hepatocellular carcinoma development in patients with hepatitis B and C.",
        "journal": "United European gastroenterology journal",
        "date": "2018",
        "authors": "Takaya H, Kawaratani H, Tsuji Y, Nakanishi K, Saikawa S, Sato S, Sawada Y, Kaji K, Okura Y, Shimozato N, Kitade M, Akahane T, Moriya K, Namisaki T, Mitoro A, Matsumoto M, Fukui H, Yoshiji H",
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    {
        "title": "A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels.",
        "journal": "Blood",
        "date": "2024-05-02",
        "authors": "de Vries Paul S, Reventun Paula, Brown Michael R, Heath Adam S, Huffman Jennifer E, Le Ngoc-Quynh, Bebo Allison, Brody Jennifer A, Temprano-Sagrera Gerard, Raffield Laura M, Ozel Ayse Bilge, Thibord Florian, Jain Deepti, Lewis Joshua P, Rodriguez Benjamin A T, Pankratz Nathan, Taylor Kent D, Polasek Ozren, Chen Ming-Huei, Yanek Lisa R, Carrasquilla German D, Marioni Riccardo E, Kleber Marcus E, Tr\u00e9gou\u00ebt David-Alexandre, Yao Jie, Li-Gao Ruifang, Joshi Peter K, Trompet Stella, Martinez-Perez Angel, Ghanbari Mohsen, Howard Tom E, Reiner Alex P, Arvanitis Marios, Ryan Kathleen A, Bartz Traci M, Rudan Igor, Faraday Nauder, Linneberg Allan, Ekunwe Lynette, Davies Gail, Delgado Graciela E, Suchon Pierre, Guo Xiuqing, Rosendaal Frits R, Klaric Lucija, Noordam Raymond, van Rooij Frank, Curran Joanne E, Wheeler Marsha M, Osburn William O, O'Connell Jeffrey R, Boerwinkle Eric, Beswick Andrew, Psaty Bruce M, Kolcic Ivana, Souto Juan Carlos, Becker Lewis C, Hansen Torben, Doyle Margaret F, Harris Sarah E, Moissl Angela P, Deleuze Jean-Fran\u00e7ois, Rich Stephen S, van Hylckama Vlieg Astrid, Campbell Harry, Stott David J, Soria Jose Manuel, de Maat Moniek P M, Almasy Laura, Brody Lawrence C, Auer Paul L, Mitchell Braxton D, Ben-Shlomo Yoav, Fornage Myriam, Hayward Caroline, Mathias Rasika A, Kilpel\u00e4inen Tuomas O, Lange Leslie A, Cox Simon R, M\u00e4rz Winfried, Morange Pierre-Emmanuel, Rotter Jerome I, Mook-Kanamori Dennis O, Wilson James F, van der Harst Pim, Jukema J Wouter, Ikram M Arfan, Blangero John, Kooperberg Charles, Desch Karl C, Johnson Andrew D, Sabater-Lleal Maria, Lowenstein Charles J, Smith Nicholas L, Morrison Alanna C",
        "reference": {
            "type": "PubMed",
            "id": "38320121",
            "url": "https://pubmed.ncbi.nlm.nih.gov/38320121"
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                "uniprot_canonical_ac": "P04275-1",
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                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P00451-1",
                "protein_name": "Coagulation factor VIII",
                "gene_name": "F8",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
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                        "database": "UniProtKB",
                        "id": "P04275",
                        "url": "https://www.uniprot.org/uniprotkb/P04275"
                    }
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                "common_name": "Human",
                "glygen_name": "Human",
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            }
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        "record_id": "pubmed.38320121",
        "abstract": "",
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