{
    "disease_id": "DOID:0050984",
    "recommended_name": {
        "id": "DOID:0050984",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050984",
        "name": "spinocerebellar ataxia 37",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia and dysarthria, presenting in mid-adulthood, and has_material_basis_in mutation to the DAB1 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0014410",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014410",
            "name": "spinocerebellar ataxia type 37",
            "description": "Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by a cerebellar syndrome along with altered vertical eye movements."
        },
        {
            "id": "MONDO:0014410",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014410",
            "name": "SCA37",
            "description": ""
        },
        {
            "id": "MONDO:0014410",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014410",
            "name": "spinocerebellar ataxia with altered vertical eye movements",
            "description": ""
        },
        {
            "id": "MONDO:0014410",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014410",
            "name": "spinocerebellar ataxia 37",
            "description": ""
        },
        {
            "id": "MIM:615945",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615945",
            "name": "Spinocerebellar ataxia 37",
            "description": "Spinocerebellar ataxia 37"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050984"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050984",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050984",
            "categories": []
        },
        {
            "id": "MONDO:0014410",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014410",
            "categories": []
        },
        {
            "id": "MIM:615945",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615945",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AW18-1",
            "uniprot_ac": "A0A8M3AW18",
            "uniprot_id": "A0A8M3AW18_DANRE",
            "refseq_ac": "XP_009292841",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Disabled homolog 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "disabled homolog 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dab1a",
                    "type": "recommended"
                },
                {
                    "name": "dab1a",
                    "type": "synonym"
                },
                {
                    "name": "dab1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-242m13.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AW18-1",
            "evidence": [
                {
                    "id": "0050984",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050984"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97318-1",
            "uniprot_ac": "P97318",
            "uniprot_id": "DAB1_MOUSE",
            "refseq_ac": "NP_034144",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Disabled homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "disabled homolog 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "disabled homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "mDab1",
                    "type": "synonym"
                },
                {
                    "name": "yotari",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dab1",
                    "type": "recommended"
                },
                {
                    "name": "C630028C02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dab1",
                    "type": "synonym"
                },
                {
                    "name": "mDab1",
                    "type": "synonym"
                },
                {
                    "name": "scm",
                    "type": "synonym"
                },
                {
                    "name": "scrambler",
                    "type": "synonym"
                },
                {
                    "name": "scr",
                    "type": "synonym"
                },
                {
                    "name": "yot",
                    "type": "synonym"
                }
            ],
            "record_id": "P97318-1",
            "evidence": [
                {
                    "id": "0050984",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050984"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75553-1",
            "uniprot_ac": "O75553",
            "uniprot_id": "DAB1_HUMAN",
            "refseq_ac": "NP_066566",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Disabled homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "DAB1, reelin adaptor protein",
                    "type": "synonym"
                },
                {
                    "name": "Dab reelin signal transducer 1",
                    "type": "synonym"
                },
                {
                    "name": "Dab, reelin signal transducer, homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "disabled homolog 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "disabled homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "spinocerebellar ataxia 37",
                    "type": "synonym"
                },
                {
                    "name": "yotari",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DAB1",
                    "type": "recommended"
                },
                {
                    "name": "DAB1",
                    "type": "synonym"
                },
                {
                    "name": "SCA37",
                    "type": "synonym"
                }
            ],
            "record_id": "O75553-1",
            "evidence": [
                {
                    "id": "615945",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615945"
                },
                {
                    "id": "0050984",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050984"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CJH2-1",
            "uniprot_ac": "Q8CJH2",
            "uniprot_id": "DAB1_RAT",
            "refseq_ac": "NP_705885",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Disabled homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "DAB1, reelin adaptor protein",
                    "type": "synonym"
                },
                {
                    "name": "Dab, reelin signal transducer, homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "disabled homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dab1",
                    "type": "recommended"
                },
                {
                    "name": "Dab1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CJH2-1",
            "evidence": [
                {
                    "id": "0050984",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050984"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04797-1",
            "uniprot_ac": "P04797",
            "uniprot_id": "G3P_RAT",
            "refseq_ac": "NP_058704",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glyceraldehyde-3-phosphate dehydrogenase",
                    "type": "recommended"
                },
                {
                    "name": "1.2.1.12",
                    "type": "synonym"
                },
                {
                    "name": "2.6.99.-",
                    "type": "synonym"
                },
                {
                    "name": "38 kDa BFA-dependent ADP-ribosylation substrate",
                    "type": "synonym"
                },
                {
                    "name": "BARS-38",
                    "type": "synonym"
                },
                {
                    "name": "GAPDH",
                    "type": "synonym"
                },
                {
                    "name": "Peptidyl-cysteine S-nitrosylase GAPDH",
                    "type": "synonym"
                },
                {
                    "name": "glyceraldehyde-3-phosphate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-cysteine S-nitrosylase GAPDH",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gapdh",
                    "type": "recommended"
                },
                {
                    "name": "LOC134480898",
                    "type": "recommended"
                },
                {
                    "name": "Mir100hgl",
                    "type": "recommended"
                },
                {
                    "name": "BARS-38",
                    "type": "synonym"
                },
                {
                    "name": "Gapdhl3",
                    "type": "synonym"
                },
                {
                    "name": "Gapdh",
                    "type": "synonym"
                },
                {
                    "name": "Gapd",
                    "type": "synonym"
                },
                {
                    "name": "LOC134480667",
                    "type": "synonym"
                },
                {
                    "name": "LOC134480898",
                    "type": "synonym"
                },
                {
                    "name": "Mir100hgl",
                    "type": "synonym"
                }
            ],
            "record_id": "P04797-1",
            "evidence": [
                {
                    "id": "0050984",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050984"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P98081-1",
            "uniprot_ac": "P98081",
            "uniprot_id": "DAB_DROME",
            "refseq_ac": "NP_524119",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein disabled",
                    "type": "recommended"
                },
                {
                    "name": "CG9695-PA",
                    "type": "synonym"
                },
                {
                    "name": "Dab-PA",
                    "type": "synonym"
                },
                {
                    "name": "disabled, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "disabled",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dab",
                    "type": "recommended"
                },
                {
                    "name": "CG9695",
                    "type": "synonym"
                },
                {
                    "name": "Dab",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9695",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9695",
                    "type": "synonym"
                },
                {
                    "name": "cDNA C",
                    "type": "synonym"
                },
                {
                    "name": "dab",
                    "type": "synonym"
                }
            ],
            "record_id": "P98081-1",
            "evidence": [
                {
                    "id": "0050984",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050984"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050984"
}