{
    "disease_id": "DOID:0050772",
    "recommended_name": {
        "id": "DOID:0050772",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050772",
        "name": "spastic ataxia 1",
        "description": "A spastic ataxia characterized by early-onset cerebellar ataxia, spasticity, pyramidal syndrome and peripheral neuropathy, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the VAMP1 gene on chromosome 12p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0007164",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007164",
            "name": "spastic ataxia 1",
            "description": "Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene."
        },
        {
            "id": "MONDO:0007164",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007164",
            "name": "SPAX1",
            "description": ""
        },
        {
            "id": "MONDO:0007164",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007164",
            "name": "VAMP1 autosomal dominant spastic ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0007164",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007164",
            "name": "autosomal dominant spastic ataxia caused by mutation in VAMP1",
            "description": ""
        },
        {
            "id": "MONDO:0007164",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007164",
            "name": "spastic ataxia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007164",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007164",
            "name": "spastic ataxia 1, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:108600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/108600",
            "name": "Spastic ataxia 1, autosomal dominant",
            "description": "Spastic ataxia 1, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050772"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050772",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050772",
            "categories": []
        },
        {
            "id": "MONDO:0007164",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007164",
            "categories": []
        },
        {
            "id": "MIM:108600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/108600",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q62442-1",
            "uniprot_ac": "Q62442",
            "uniprot_id": "VAMP1_MOUSE",
            "refseq_ac": "NP_001074026",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "Synaptobrevin-1",
                    "type": "synonym"
                },
                {
                    "name": "VAMP-1",
                    "type": "synonym"
                },
                {
                    "name": "synaptobrevin-1",
                    "type": "synonym"
                },
                {
                    "name": "vesicle-associated membrane protein 1 isoform b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vamp1",
                    "type": "recommended"
                },
                {
                    "name": "Syb-1",
                    "type": "synonym"
                },
                {
                    "name": "Syb1",
                    "type": "synonym"
                },
                {
                    "name": "VAMP-1",
                    "type": "synonym"
                },
                {
                    "name": "Vamp1",
                    "type": "synonym"
                },
                {
                    "name": "lew",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62442-1",
            "evidence": [
                {
                    "id": "0050772",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050772"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23763-1",
            "uniprot_ac": "P23763",
            "uniprot_id": "VAMP1_HUMAN",
            "refseq_ac": "NP_055046",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vesicle-associated membrane protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Synaptobrevin-1",
                    "type": "synonym"
                },
                {
                    "name": "VAMP-1",
                    "type": "synonym"
                },
                {
                    "name": "spastic ataxia 1 (autosomal dominant)",
                    "type": "synonym"
                },
                {
                    "name": "vesicle-associated membrane protein 1 (synaptobrevin 1)",
                    "type": "synonym"
                },
                {
                    "name": "vesicle-associated membrane protein 1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VAMP1",
                    "type": "recommended"
                },
                {
                    "name": "CMS25",
                    "type": "synonym"
                },
                {
                    "name": "SAX1",
                    "type": "synonym"
                },
                {
                    "name": "SPAX1",
                    "type": "synonym"
                },
                {
                    "name": "SYB1",
                    "type": "synonym"
                },
                {
                    "name": "VAMP-1",
                    "type": "synonym"
                },
                {
                    "name": "VAMP1",
                    "type": "synonym"
                }
            ],
            "record_id": "P23763-1",
            "evidence": [
                {
                    "id": "108600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/108600"
                },
                {
                    "id": "0050772",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050772"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31109-1",
            "uniprot_ac": "P31109",
            "uniprot_id": "SNC1_YEAST",
            "refseq_ac": "NP_009372",
            "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": "Synaptobrevin homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "SNAP receptor SNC1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SNC1",
                    "type": "recommended"
                },
                {
                    "name": "SNC1",
                    "type": "synonym"
                }
            ],
            "record_id": "P31109-1",
            "evidence": [
                {
                    "id": "0050772",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050772"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63666-1",
            "uniprot_ac": "Q63666",
            "uniprot_id": "VAMP1_RAT",
            "refseq_ac": "NP_037222",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vesicle-associated membrane protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Synaptobrevin-1",
                    "type": "synonym"
                },
                {
                    "name": "VAMP-1",
                    "type": "synonym"
                },
                {
                    "name": "synaptobrevin-1",
                    "type": "synonym"
                },
                {
                    "name": "vesicle-associated membrane protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vamp1",
                    "type": "recommended"
                },
                {
                    "name": "Syb1",
                    "type": "synonym"
                },
                {
                    "name": "Vamp1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63666-1",
            "evidence": [
                {
                    "id": "0050772",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050772"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18489-1",
            "uniprot_ac": "P18489",
            "uniprot_id": "SYB_DROME",
            "refseq_ac": "NP_001137633",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synaptobrevin",
                    "type": "recommended"
                },
                {
                    "name": "CG12210-PC",
                    "type": "synonym"
                },
                {
                    "name": "Syb-PC",
                    "type": "synonym"
                },
                {
                    "name": "VAMP3",
                    "type": "synonym"
                },
                {
                    "name": "Vesicle-associated membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "complementation group J",
                    "type": "synonym"
                },
                {
                    "name": "synaptobrevin, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "synaptobrevin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Syb",
                    "type": "recommended"
                },
                {
                    "name": "21.15",
                    "type": "synonym"
                },
                {
                    "name": "CG12210",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12210",
                    "type": "synonym"
                },
                {
                    "name": "END1-2",
                    "type": "synonym"
                },
                {
                    "name": "J",
                    "type": "synonym"
                },
                {
                    "name": "SYB",
                    "type": "synonym"
                },
                {
                    "name": "Syb",
                    "type": "synonym"
                },
                {
                    "name": "VAMP2",
                    "type": "synonym"
                },
                {
                    "name": "VAMP",
                    "type": "synonym"
                },
                {
                    "name": "Vamp",
                    "type": "synonym"
                },
                {
                    "name": "c-Syb",
                    "type": "synonym"
                },
                {
                    "name": "dVAMP",
                    "type": "synonym"
                },
                {
                    "name": "l(2)46CFq",
                    "type": "synonym"
                },
                {
                    "name": "l(2)46El",
                    "type": "synonym"
                },
                {
                    "name": "n-syb",
                    "type": "synonym"
                },
                {
                    "name": "syb",
                    "type": "synonym"
                },
                {
                    "name": "synaptobrevin",
                    "type": "synonym"
                }
            ],
            "record_id": "P18489-1",
            "evidence": [
                {
                    "id": "0050772",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050772"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050772"
}