{
    "disease_id": "DOID:0050752",
    "recommended_name": {
        "id": "DOID:0050752",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050752",
        "name": "amyotrophic lateral sclerosis type 8",
        "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20."
    },
    "synonyms": [
        {
            "id": "DOID:0050752",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050752",
            "name": "ALS8",
            "description": ""
        },
        {
            "id": "DOID:0050752",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050752",
            "name": "amyotrophic lateral sclerosis 8",
            "description": ""
        },
        {
            "id": "MONDO:0012077",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012077",
            "name": "amyotrophic lateral sclerosis type 8",
            "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VAPB gene."
        },
        {
            "id": "MONDO:0012077",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012077",
            "name": "ALS8",
            "description": ""
        },
        {
            "id": "MONDO:0012077",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012077",
            "name": "VAPB amyotrophic lateral sclerosis",
            "description": ""
        },
        {
            "id": "MONDO:0012077",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012077",
            "name": "amyotrophic lateral sclerosis 8",
            "description": ""
        },
        {
            "id": "MONDO:0012077",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012077",
            "name": "amyotrophic lateral sclerosis caused by mutation in VAPB",
            "description": ""
        },
        {
            "id": "MONDO:0012077",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012077",
            "name": "amyotrophic lateral sclerosis type 8",
            "description": ""
        },
        {
            "id": "MIM:608627",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608627",
            "name": "Amyotrophic lateral sclerosis 8",
            "description": "Amyotrophic lateral sclerosis 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050752"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050752",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050752",
            "categories": []
        },
        {
            "id": "MONDO:0012077",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012077",
            "categories": []
        },
        {
            "id": "MIM:608627",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608627",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9QY76-1",
            "uniprot_ac": "Q9QY76",
            "uniprot_id": "VAPB_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vesicle-associated membrane protein-associated protein B",
                    "type": "recommended"
                },
                {
                    "name": "VAMP-B",
                    "type": "synonym"
                },
                {
                    "name": "VAMP-associated protein 33b",
                    "type": "synonym"
                },
                {
                    "name": "VAMP-associated protein B",
                    "type": "synonym"
                },
                {
                    "name": "VAP-B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vapb",
                    "type": "recommended"
                }
            ],
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                {
                    "id": "0050752",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050752"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WV55-1",
            "uniprot_ac": "Q9WV55",
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            "refseq_ac": "NP_038961",
            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vesicle-associated membrane protein-associated protein A",
                    "type": "recommended"
                },
                {
                    "name": "33 kDa VAMP-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "VAMP-A",
                    "type": "synonym"
                },
                {
                    "name": "VAMP-associated protein A",
                    "type": "synonym"
                },
                {
                    "name": "VAP-33",
                    "type": "synonym"
                },
                {
                    "name": "VAP-A",
                    "type": "synonym"
                },
                {
                    "name": "synaptobrevin-associated protein of 33kDa",
                    "type": "synonym"
                },
                {
                    "name": "vesicle-associated membrane protein-associated protein A isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
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                    "name": "Vapa",
                    "type": "recommended"
                },
                {
                    "name": "33kDa",
                    "type": "synonym"
                },
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                    "name": "VAMP-A",
                    "type": "synonym"
                },
                {
                    "name": "VAP-33",
                    "type": "synonym"
                },
                {
                    "name": "VAP-A",
                    "type": "synonym"
                },
                {
                    "name": "VAP33",
                    "type": "synonym"
                },
                {
                    "name": "Vap33",
                    "type": "synonym"
                },
                {
                    "name": "Vapa",
                    "type": "synonym"
                }
            ],
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                    "id": "0050752",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050752"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95292-1",
            "uniprot_ac": "O95292",
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            "refseq_ac": "NP_001182606",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vesicle-associated membrane protein-associated protein B/C",
                    "type": "recommended"
                },
                {
                    "name": "VAMP (vesicle-associated membrane protein)-associated protein B and C",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "VAMP-associated 33 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "VAMP-associated protein B/C",
                    "type": "synonym"
                },
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                    "name": "VAP-B/VAP-C",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "vesicle-associated membrane protein-associated protein B/C",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "VAPB",
                    "type": "recommended"
                },
                {
                    "name": "ALS8",
                    "type": "synonym"
                },
                {
                    "name": "PRO983",
                    "type": "synonym"
                },
                {
                    "name": "VAMP-B",
                    "type": "synonym"
                },
                {
                    "name": "VAP-B",
                    "type": "synonym"
                },
                {
                    "name": "VAPB",
                    "type": "synonym"
                }
            ],
            "record_id": "O95292-1",
            "evidence": [
                {
                    "id": "608627",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608627"
                },
                {
                    "id": "0050752",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050752"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6Q595-1",
            "uniprot_ac": "Q6Q595",
            "uniprot_id": "SCS22_YEAST",
            "refseq_ac": "NP_009461",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vesicle-associated membrane protein-associated protein SCS22",
                    "type": "recommended"
                },
                {
                    "name": "VAMP-associated protein SCS22",
                    "type": "synonym"
                },
                {
                    "name": "VAP homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid metabolism-regulating protein SCS22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
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                    "name": "SCS22",
                    "type": "recommended"
                },
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            ],
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                    "id": "0050752",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050752"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40075-1",
            "uniprot_ac": "P40075",
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vesicle-associated membrane protein-associated protein SCS2",
                    "type": "recommended"
                },
                {
                    "name": "Choline sensitivity suppressor protein 2",
                    "type": "synonym"
                },
                {
                    "name": "VAMP-associated protein SCS2",
                    "type": "synonym"
                },
                {
                    "name": "VAP homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-binding protein SCS2",
                    "type": "synonym"
                }
            ],
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                    "name": "SCS2",
                    "type": "recommended"
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                    "name": "SCS2",
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                }
            ],
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                    "id": "0050752",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z269-1",
            "uniprot_ac": "Q9Z269",
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Vesicle-associated membrane protein-associated protein B",
                    "type": "recommended"
                },
                {
                    "name": "VAMP (vesicle-associated membrane protein)-associated protein B and C",
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                },
                {
                    "name": "VAMP-B",
                    "type": "synonym"
                },
                {
                    "name": "VAMP-associated protein B",
                    "type": "synonym"
                },
                {
                    "name": "VAP-B",
                    "type": "synonym"
                },
                {
                    "name": "vesicle-associated membrane protein, associated protein B and C",
                    "type": "synonym"
                },
                {
                    "name": "vesicle-associated membrane protein-associated protein B",
                    "type": "synonym"
                }
            ],
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                    "name": "Vapb",
                    "type": "recommended"
                },
                {
                    "name": "VAMP-B",
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                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "Vapb",
                    "type": "synonym"
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            ],
            "record_id": "Q9Z269-1",
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                {
                    "id": "0050752",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050752"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z270-1",
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                    "name": "Rattus norvegicus",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
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                {
                    "name": "33 kDa Vamp-associated protein",
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                    "type": "synonym"
                },
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                    "name": "VAMP-A",
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                    "name": "VAMP-associated protein A",
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                    "name": "VAP-33",
                    "type": "synonym"
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                {
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                {
                    "name": "vesicle-associated membrane protein, associated protein a",
                    "type": "synonym"
                },
                {
                    "name": "vesicle-associated membrane protein-associated protein A",
                    "type": "synonym"
                }
            ],
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                    "name": "Vapa",
                    "type": "recommended"
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                {
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                },
                {
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                    "id": "0050752",
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            ]
        },
        {
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vesicle-associated membrane protein-associated protein A",
                    "type": "recommended"
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                {
                    "name": "motile sperm domain containing 4",
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                }
            ],
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                    "name": "Mospd4",
                    "type": "recommended"
                },
                {
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                    "type": "synonym"
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            ],
            "record_id": "D4A092-1",
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                    "id": "0050752",
                    "database": "AGR",
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            ]
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            "uniprot_ac": "Q9VSD3",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "CG7919-PA",
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                    "name": "Farinelli",
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                {
                    "name": "fan-PA",
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                {
                    "name": "farinelli",
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                }
            ],
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                    "name": "fan",
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                    "name": "CG7919",
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                    "name": "Dmel\\CG7919",
                    "type": "synonym"
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                {
                    "name": "Dmel_CG7919",
                    "type": "synonym"
                },
                {
                    "name": "FAN",
                    "type": "synonym"
                },
                {
                    "name": "dVAP-C",
                    "type": "synonym"
                },
                {
                    "name": "fan",
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                }
            ],
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                {
                    "id": "0050752",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050752"
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            ]
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            "uniprot_canonical_ac": "Q9W4N8-1",
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                    "name": "Drosophila melanogaster",
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                }
            ],
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                    "name": "CG5014-PB",
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                },
                {
                    "name": "VAMP-associated protein 33kDa, isoform B",
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                },
                {
                    "name": "VAMP-associated protein 33kDa, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "VAMP-associated protein 33kDa, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "VAMP-associated protein of 33kDa A",
                    "type": "synonym"
                },
                {
                    "name": "VAMP-associated protein of 33kDa ortholog A",
                    "type": "synonym"
                },
                {
                    "name": "Vap-33-1",
                    "type": "synonym"
                },
                {
                    "name": "Vap33-1",
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                {
                    "name": "Vap33-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
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                    "name": "Vap33",
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                {
                    "name": "BcDNA:GM03307",
                    "type": "synonym"
                },
                {
                    "name": "CG5014",
                    "type": "synonym"
                },
                {
                    "name": "DVAP-33A",
                    "type": "synonym"
                },
                {
                    "name": "DVAP33A",
                    "type": "synonym"
                },
                {
                    "name": "DVAP",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5014",
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                {
                    "name": "Dmel_CG5014",
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                },
                {
                    "name": "VAP-33-1",
                    "type": "synonym"
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                {
                    "name": "VAP-33",
                    "type": "synonym"
                },
                {
                    "name": "VAP33-A",
                    "type": "synonym"
                },
                {
                    "name": "VAP33A",
                    "type": "synonym"
                },
                {
                    "name": "VAP33",
                    "type": "synonym"
                },
                {
                    "name": "VAPB",
                    "type": "synonym"
                },
                {
                    "name": "VAP",
                    "type": "synonym"
                },
                {
                    "name": "Vap-33-1",
                    "type": "synonym"
                },
                {
                    "name": "Vap-33A",
                    "type": "synonym"
                },
                {
                    "name": "Vap33-1",
                    "type": "synonym"
                },
                {
                    "name": "Vap33",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Liang-2.42",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO03040301.124",
                    "type": "synonym"
                },
                {
                    "name": "clone 2.42",
                    "type": "synonym"
                },
                {
                    "name": "dVAP-33",
                    "type": "synonym"
                },
                {
                    "name": "dVAP-A",
                    "type": "synonym"
                },
                {
                    "name": "dVAP33A",
                    "type": "synonym"
                },
                {
                    "name": "dVAP",
                    "type": "synonym"
                },
                {
                    "name": "dvap33a",
                    "type": "synonym"
                },
                {
                    "name": "dvap",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0231",
                    "type": "synonym"
                },
                {
                    "name": "vap-33A",
                    "type": "synonym"
                },
                {
                    "name": "vap33-1",
                    "type": "synonym"
                },
                {
                    "name": "vap33",
                    "type": "synonym"
                },
                {
                    "name": "vapb",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050752",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050752"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9P0L0-1",
            "uniprot_ac": "Q9P0L0",
            "uniprot_id": "VAPA_HUMAN",
            "refseq_ac": "NP_003565",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vesicle-associated membrane protein-associated protein A",
                    "type": "recommended"
                },
                {
                    "name": "33 kDa VAMP-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa",
                    "type": "synonym"
                },
                {
                    "name": "VAMP-A",
                    "type": "synonym"
                },
                {
                    "name": "VAMP-associated protein A",
                    "type": "synonym"
                },
                {
                    "name": "VAP-33",
                    "type": "synonym"
                },
                {
                    "name": "VAP-A",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "vesicle-associated membrane protein-associated protein A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "vesicle-associated membrane protein-associated protein A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VAPA",
                    "type": "recommended"
                },
                {
                    "name": "VAMP-A",
                    "type": "synonym"
                },
                {
                    "name": "VAP-33",
                    "type": "synonym"
                },
                {
                    "name": "VAP-A",
                    "type": "synonym"
                },
                {
                    "name": "VAP33",
                    "type": "synonym"
                },
                {
                    "name": "VAPA",
                    "type": "synonym"
                },
                {
                    "name": "hVAP-33",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9P0L0-1",
            "evidence": [
                {
                    "id": "0050752",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050752"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050752"
}