{
    "disease_id": "DOID:0070647",
    "recommended_name": {
        "id": "DOID:0070647",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070647",
        "name": "hereditary spastic paraplegia 30A",
        "description": "A hereditary spastic paraplegia 30 that has_material_basis_in heterozygous mutation in the KIF1A gene on chromosome 2q37."
    },
    "synonyms": [
        {
            "id": "DOID:0070647",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070647",
            "name": "autosomal dominant spastic paraplegia 30",
            "description": ""
        },
        {
            "id": "DOID:0070647",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070647",
            "name": "spastic paraplegia 30A",
            "description": ""
        },
        {
            "id": "MONDO:0700307",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700307",
            "name": "spastic paraplegia 30A, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:610357",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610357",
            "name": "Spastic paraplegia 30A, autosomal dominant",
            "description": "Spastic paraplegia 30A, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070647"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070647",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070647",
            "categories": []
        },
        {
            "id": "MONDO:0700307",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700307",
            "categories": []
        },
        {
            "id": "MIM:610357",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610357",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QG12-1",
            "uniprot_ac": "A0A8M9QG12",
            "uniprot_id": "A0A8M9QG12_DANRE",
            "refseq_ac": "XP_021332795",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "plus-end-directed kinesin ATPase",
                    "type": "recommended"
                },
                {
                    "name": "5.6.1.3",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF1A isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kif1aa",
                    "type": "recommended"
                },
                {
                    "name": "kif1aa",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QG12-1",
            "evidence": [
                {
                    "id": "0070647",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070647"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3APQ1-1",
            "uniprot_ac": "A0A8M3APQ1",
            "uniprot_id": "A0A8M3APQ1_DANRE",
            "refseq_ac": "XP_009296795",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "plus-end-directed kinesin ATPase",
                    "type": "recommended"
                },
                {
                    "name": "5.6.1.3",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF1A isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kif1ab",
                    "type": "recommended"
                },
                {
                    "name": "kif1ab",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3APQ1-1",
            "evidence": [
                {
                    "id": "0070647",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070647"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P33173-1",
            "uniprot_ac": "P33173",
            "uniprot_id": "KIF1A_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": "Kinesin-like protein KIF1A",
                    "type": "recommended"
                },
                {
                    "name": "5.6.1.3",
                    "type": "synonym"
                },
                {
                    "name": "Axonal transporter of synaptic vesicles",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kif1a",
                    "type": "recommended"
                },
                {
                    "name": "Atsv",
                    "type": "synonym"
                },
                {
                    "name": "Kif1",
                    "type": "synonym"
                }
            ],
            "record_id": "P33173-1",
            "evidence": [
                {
                    "id": "0070647",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070647"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12756-1",
            "uniprot_ac": "Q12756",
            "uniprot_id": "KIF1A_HUMAN",
            "refseq_ac": "NP_001230937",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF1A",
                    "type": "recommended"
                },
                {
                    "name": "5.6.1.3",
                    "type": "synonym"
                },
                {
                    "name": "Axonal transporter of synaptic vesicles",
                    "type": "synonym"
                },
                {
                    "name": "Microtubule-based motor KIF1A",
                    "type": "synonym"
                },
                {
                    "name": "Unc-104- and KIF1A-related protein",
                    "type": "synonym"
                },
                {
                    "name": "axonal transporter of synaptic vesicles",
                    "type": "synonym"
                },
                {
                    "name": "hUnc-104",
                    "type": "synonym"
                },
                {
                    "name": "kinesin, heavy chain, member 1A, homolog of mouse",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF1A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF1A",
                    "type": "synonym"
                },
                {
                    "name": "microtubule-based motor KIF1A",
                    "type": "synonym"
                },
                {
                    "name": "unc-104- and KIF1A-related protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KIF1A",
                    "type": "recommended"
                },
                {
                    "name": "ATSV",
                    "type": "synonym"
                },
                {
                    "name": "C2orf20",
                    "type": "synonym"
                },
                {
                    "name": "HSN2C",
                    "type": "synonym"
                },
                {
                    "name": "KIF1A",
                    "type": "synonym"
                },
                {
                    "name": "MRD9",
                    "type": "synonym"
                },
                {
                    "name": "NESCAVS",
                    "type": "synonym"
                },
                {
                    "name": "SPG30A",
                    "type": "synonym"
                },
                {
                    "name": "SPG30B",
                    "type": "synonym"
                },
                {
                    "name": "SPG30",
                    "type": "synonym"
                },
                {
                    "name": "UNC104",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12756-1",
            "evidence": [
                {
                    "id": "610357",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610357"
                },
                {
                    "id": "0070647",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070647"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M4A4-1",
            "uniprot_ac": "F1M4A4",
            "uniprot_id": "KIF1A_RAT",
            "refseq_ac": "XP_017452401",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF1A",
                    "type": "recommended"
                },
                {
                    "name": "5.6.1.3",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF1A isoform X7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kif1a",
                    "type": "recommended"
                },
                {
                    "name": "Kif1a",
                    "type": "synonym"
                }
            ],
            "record_id": "F1M4A4-1",
            "evidence": [
                {
                    "id": "0070647",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070647"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZAJ2-1",
            "uniprot_ac": "A1ZAJ2",
            "uniprot_id": "KIF1A_DROME",
            "refseq_ac": "NP_001097346",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein unc-104",
                    "type": "recommended"
                },
                {
                    "name": "CG8566-PE",
                    "type": "synonym"
                },
                {
                    "name": "D uncoordinated protein 104",
                    "type": "synonym"
                },
                {
                    "name": "DUnc104",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin4B",
                    "type": "synonym"
                },
                {
                    "name": "Protein immaculate connections",
                    "type": "synonym"
                },
                {
                    "name": "bristly",
                    "type": "synonym"
                },
                {
                    "name": "immaculate connections",
                    "type": "synonym"
                },
                {
                    "name": "kinesin 3",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-3",
                    "type": "synonym"
                },
                {
                    "name": "unc-104 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "unc-104-PE",
                    "type": "synonym"
                },
                {
                    "name": "uncoordinated 104",
                    "type": "synonym"
                },
                {
                    "name": "uncoordinated-104, isoform E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "unc-104",
                    "type": "recommended"
                },
                {
                    "name": "1B",
                    "type": "synonym"
                },
                {
                    "name": "CG8566",
                    "type": "synonym"
                },
                {
                    "name": "DUNC104",
                    "type": "synonym"
                },
                {
                    "name": "DUnc-104",
                    "type": "synonym"
                },
                {
                    "name": "DmCG8566",
                    "type": "synonym"
                },
                {
                    "name": "DmDUnc104",
                    "type": "synonym"
                },
                {
                    "name": "DmKlp53D",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8566",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8566",
                    "type": "synonym"
                },
                {
                    "name": "Dunc104",
                    "type": "synonym"
                },
                {
                    "name": "Imac",
                    "type": "synonym"
                },
                {
                    "name": "KIF 1B",
                    "type": "synonym"
                },
                {
                    "name": "KIF1A/1B",
                    "type": "synonym"
                },
                {
                    "name": "KIF1A",
                    "type": "synonym"
                },
                {
                    "name": "Kif1a",
                    "type": "synonym"
                },
                {
                    "name": "Klp53D",
                    "type": "synonym"
                },
                {
                    "name": "Unc-104",
                    "type": "synonym"
                },
                {
                    "name": "Unc104",
                    "type": "synonym"
                },
                {
                    "name": "bris",
                    "type": "synonym"
                },
                {
                    "name": "imac",
                    "type": "synonym"
                },
                {
                    "name": "kif1a",
                    "type": "synonym"
                },
                {
                    "name": "unc-104",
                    "type": "synonym"
                },
                {
                    "name": "unc104",
                    "type": "synonym"
                }
            ],
            "record_id": "A1ZAJ2-1",
            "evidence": [
                {
                    "id": "0070647",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070647"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070647"
}