{
    "disease_id": "DOID:0111611",
    "recommended_name": {
        "id": "DOID:0111611",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111611",
        "name": "autosomal recessive spinocerebellar ataxia 4",
        "description": "An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13D gene on chromosome 1p36.22-p36.21."
    },
    "synonyms": [
        {
            "id": "DOID:0111611",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111611",
            "name": "SCA24",
            "description": ""
        },
        {
            "id": "DOID:0111611",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111611",
            "name": "SCAR4",
            "description": ""
        },
        {
            "id": "DOID:0111611",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111611",
            "name": "SCASI",
            "description": ""
        },
        {
            "id": "DOID:0111611",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111611",
            "name": "spinocerebellar ataxia 24",
            "description": ""
        },
        {
            "id": "DOID:0111611",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111611",
            "name": "spinocerebellar ataxia with saccadic intrusions",
            "description": ""
        },
        {
            "id": "DOID:0111611",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111611",
            "name": "autosomal recessive cerebellar ataxia-saccadic intrusion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011811",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011811",
            "name": "autosomal recessive cerebellar ataxia-saccadic intrusion syndrome",
            "description": "Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances."
        },
        {
            "id": "MONDO:0011811",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011811",
            "name": "SCAR4",
            "description": ""
        },
        {
            "id": "MONDO:0011811",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011811",
            "name": "SCASI",
            "description": ""
        },
        {
            "id": "MONDO:0011811",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011811",
            "name": "spinocerebellar ataxia 24",
            "description": ""
        },
        {
            "id": "MONDO:0011811",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011811",
            "name": "spinocerebellar ataxia 24 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0011811",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011811",
            "name": "spinocerebellar ataxia autosomal recessive 4",
            "description": ""
        },
        {
            "id": "MONDO:0011811",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011811",
            "name": "spinocerebellar ataxia, autosomal recessive 4",
            "description": ""
        },
        {
            "id": "MIM:607317",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607317",
            "name": "Spinocerebellar ataxia, autosomal recessive 4",
            "description": "Spinocerebellar ataxia, autosomal recessive 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111611"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111611",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111611",
            "categories": []
        },
        {
            "id": "MONDO:0011811",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011811",
            "categories": []
        },
        {
            "id": "MIM:607317",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607317",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TJB7-1",
            "uniprot_ac": "A0AB32TJB7",
            "uniprot_id": "A0AB32TJB7_DANRE",
            "refseq_ac": "XP_068073001",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intermembrane lipid transfer protein VPS13D isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "intermembrane lipid transfer protein VPS13D isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "vps13d",
                    "type": "recommended"
                },
                {
                    "name": "vps13d",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TJB7-1",
            "evidence": [
                {
                    "id": "0111611",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111611"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9P9K9-1",
            "uniprot_ac": "A0A8M9P9K9",
            "uniprot_id": "A0A8M9P9K9_DANRE",
            "refseq_ac": "XP_021327607",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intermembrane lipid transfer protein VPS13C isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "intermembrane lipid transfer protein VPS13C isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "vps13c",
                    "type": "recommended"
                },
                {
                    "name": "vps13c",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9P9K9-1",
            "evidence": [
                {
                    "id": "0111611",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111611"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2BET3-1",
            "uniprot_ac": "A0A8M2BET3",
            "uniprot_id": "A0A8M2BET3_DANRE",
            "refseq_ac": "NP_001429275",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intermembrane lipid transfer protein VPS13A isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "intermembrane lipid transfer protein VPS13A isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "vps13a",
                    "type": "recommended"
                },
                {
                    "name": "chac",
                    "type": "synonym"
                },
                {
                    "name": "vps13a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc10c04",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BET3-1",
            "evidence": [
                {
                    "id": "0111611",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111611"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B1ART1-1",
            "uniprot_ac": "B1ART1",
            "uniprot_id": "B1ART1_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": "Vacuolar protein sorting 13D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps13d",
                    "type": "recommended"
                }
            ],
            "record_id": "B1ART1-1",
            "evidence": [
                {
                    "id": "0111611",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111611"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5H8C4-1",
            "uniprot_ac": "Q5H8C4",
            "uniprot_id": "VP13A_MOUSE",
            "refseq_ac": "NP_766616",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intermembrane lipid transfer protein VPS13A",
                    "type": "recommended"
                },
                {
                    "name": "Chorea-acanthocytosis protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Chorein",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar protein sorting-associated protein 13A",
                    "type": "synonym"
                },
                {
                    "name": "chorea-acanthocytosis protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "intermembrane lipid transfer protein VPS13A",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 13A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps13a",
                    "type": "recommended"
                },
                {
                    "name": "4930425F11",
                    "type": "synonym"
                },
                {
                    "name": "4930516E05Rik",
                    "type": "synonym"
                },
                {
                    "name": "4930543C13Rik",
                    "type": "synonym"
                },
                {
                    "name": "9930023P20",
                    "type": "synonym"
                },
                {
                    "name": "Chac",
                    "type": "synonym"
                },
                {
                    "name": "Chorein",
                    "type": "synonym"
                },
                {
                    "name": "D330038K10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0986",
                    "type": "synonym"
                },
                {
                    "name": "Vps13a",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0986",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5H8C4-1",
            "evidence": [
                {
                    "id": "0111611",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111611"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BX70-1",
            "uniprot_ac": "Q8BX70",
            "uniprot_id": "VP13C_MOUSE",
            "refseq_ac": "NP_796158",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intermembrane lipid transfer protein VPS13C",
                    "type": "recommended"
                },
                {
                    "name": "Vacuolar protein sorting-associated protein 13C",
                    "type": "synonym"
                },
                {
                    "name": "intermembrane lipid transfer protein VPS13C",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 13C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps13c",
                    "type": "recommended"
                },
                {
                    "name": "C230055H22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa3021",
                    "type": "synonym"
                },
                {
                    "name": "Vps13c",
                    "type": "synonym"
                },
                {
                    "name": "chorein",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BX70-1",
            "evidence": [
                {
                    "id": "0111611",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111611"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5THJ4-1",
            "uniprot_ac": "Q5THJ4",
            "uniprot_id": "VP13D_HUMAN",
            "refseq_ac": "NP_056193",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intermembrane lipid transfer protein VPS13D",
                    "type": "recommended"
                },
                {
                    "name": "Vacuolar protein sorting-associated protein 13D",
                    "type": "synonym"
                },
                {
                    "name": "bridge-like lipid transfer protein family member 5D",
                    "type": "synonym"
                },
                {
                    "name": "intermembrane lipid transfer protein VPS13D isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "intermembrane lipid transfer protein VPS13D",
                    "type": "synonym"
                },
                {
                    "name": "spinocerebellar ataxia 24 (with saccadic intrusions)",
                    "type": "synonym"
                },
                {
                    "name": "spinocerebellar ataxia with saccadic intrusions",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 13D",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 13D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VPS13D",
                    "type": "recommended"
                },
                {
                    "name": "BLTP5D",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0453",
                    "type": "synonym"
                },
                {
                    "name": "SCA24",
                    "type": "synonym"
                },
                {
                    "name": "SCAR4",
                    "type": "synonym"
                },
                {
                    "name": "SCASI",
                    "type": "synonym"
                },
                {
                    "name": "VPS13D",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5THJ4-1",
            "evidence": [
                {
                    "id": "607317",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607317"
                },
                {
                    "id": "0111611",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111611"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07878-1",
            "uniprot_ac": "Q07878",
            "uniprot_id": "VPS13_YEAST",
            "refseq_ac": "NP_013060",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intermembrane lipid transfer protein VPS13",
                    "type": "recommended"
                },
                {
                    "name": "Suppression of the onset of impotence protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar protein sorting-associated protein 13",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar protein-targeting protein 2",
                    "type": "synonym"
                },
                {
                    "name": "membrane morphogenesis protein VPS13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VPS13",
                    "type": "recommended"
                },
                {
                    "name": "SOI1",
                    "type": "synonym"
                },
                {
                    "name": "VPS13",
                    "type": "synonym"
                },
                {
                    "name": "VPT2",
                    "type": "synonym"
                },
                {
                    "name": "YME3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07878-1",
            "evidence": [
                {
                    "id": "0111611",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111611"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GHP9-1",
            "uniprot_ac": "A0A8I6GHP9",
            "uniprot_id": "A0A8I6GHP9_RAT",
            "refseq_ac": "NP_001382518",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting 13 homolog D",
                    "type": "synonym"
                },
                {
                    "name": "intermembrane lipid transfer protein VPS13D",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 13D",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 13D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps13d",
                    "type": "recommended"
                },
                {
                    "name": "Vps13d",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6GHP9-1",
            "evidence": [
                {
                    "id": "0111611",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111611"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZMR7-1",
            "uniprot_ac": "A0A8I5ZMR7",
            "uniprot_id": "A0A8I5ZMR7_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting 13 homolog C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps13c",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5ZMR7-1",
            "evidence": [
                {
                    "id": "0111611",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111611"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A4A2-1",
            "uniprot_ac": "A0A8I6A4A2",
            "uniprot_id": "A0A8I6A4A2_RAT",
            "refseq_ac": "NP_001094445",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting 13 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "chorein",
                    "type": "synonym"
                },
                {
                    "name": "intermembrane lipid transfer protein VPS13A",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 13A",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 13A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps13a",
                    "type": "recommended"
                },
                {
                    "name": "RGD1311340",
                    "type": "synonym"
                },
                {
                    "name": "Vps13a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A4A2-1",
            "evidence": [
                {
                    "id": "0111611",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111611"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VU08-1",
            "uniprot_ac": "Q9VU08",
            "uniprot_id": "VP13D_DROME",
            "refseq_ac": "NP_729825",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intermembrane lipid transfer protein Vps13D",
                    "type": "recommended"
                },
                {
                    "name": "CG32113-PB",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar protein sorting-associated protein 13D",
                    "type": "synonym"
                },
                {
                    "name": "Vps13D-PB",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 13D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps13D",
                    "type": "recommended"
                },
                {
                    "name": "CG11002",
                    "type": "synonym"
                },
                {
                    "name": "CG11003",
                    "type": "synonym"
                },
                {
                    "name": "CG32113",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32113",
                    "type": "synonym"
                },
                {
                    "name": "Vps13D",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VU08-1",
            "evidence": [
                {
                    "id": "0111611",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111611"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z713-1",
            "uniprot_ac": "A1Z713",
            "uniprot_id": "VPS13_DROME",
            "refseq_ac": "NP_001260781",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intermembrane lipid transfer protein Vps13",
                    "type": "recommended"
                },
                {
                    "name": "CG2093-PB",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar protein sorting-associated protein 13",
                    "type": "synonym"
                },
                {
                    "name": "Vps13-PB",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 13, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps13",
                    "type": "recommended"
                },
                {
                    "name": "BEST:LD02743",
                    "type": "synonym"
                },
                {
                    "name": "CG2093",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2093",
                    "type": "synonym"
                },
                {
                    "name": "Vps13",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z713-1",
            "evidence": [
                {
                    "id": "0111611",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111611"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q709C8-1",
            "uniprot_ac": "Q709C8",
            "uniprot_id": "VP13C_HUMAN",
            "refseq_ac": "NP_001018098",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intermembrane lipid transfer protein VPS13C",
                    "type": "recommended"
                },
                {
                    "name": "Vacuolar protein sorting-associated protein 13C",
                    "type": "synonym"
                },
                {
                    "name": "bridge-like lipid transfer protein family member 5C",
                    "type": "synonym"
                },
                {
                    "name": "intermembrane lipid transfer protein VPS13C isoform 2B",
                    "type": "synonym"
                },
                {
                    "name": "intermembrane lipid transfer protein VPS13C",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 13C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VPS13C",
                    "type": "recommended"
                },
                {
                    "name": "BLTP5C",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1421",
                    "type": "synonym"
                },
                {
                    "name": "PARK23",
                    "type": "synonym"
                },
                {
                    "name": "VPS13C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q709C8-1",
            "evidence": [
                {
                    "id": "0111611",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111611"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96RL7-1",
            "uniprot_ac": "Q96RL7",
            "uniprot_id": "VP13A_HUMAN",
            "refseq_ac": "NP_001018047",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intermembrane lipid transfer protein VPS13A",
                    "type": "recommended"
                },
                {
                    "name": "Chorea-acanthocytosis protein",
                    "type": "synonym"
                },
                {
                    "name": "Chorein",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar protein sorting-associated protein 13A",
                    "type": "synonym"
                },
                {
                    "name": "bridge-like lipid transfer protein family member 5A",
                    "type": "synonym"
                },
                {
                    "name": "chorea-acanthocytosis protein",
                    "type": "synonym"
                },
                {
                    "name": "intermembrane lipid transfer protein VPS13A isoform C",
                    "type": "synonym"
                },
                {
                    "name": "intermembrane lipid transfer protein VPS13A",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 13A",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 13A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VPS13A",
                    "type": "recommended"
                },
                {
                    "name": "BLTP5A",
                    "type": "synonym"
                },
                {
                    "name": "CHAC",
                    "type": "synonym"
                },
                {
                    "name": "CHOREIN",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0986",
                    "type": "synonym"
                },
                {
                    "name": "VPS13A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96RL7-1",
            "evidence": [
                {
                    "id": "0111611",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111611"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111611"
}