{
    "disease_id": "DOID:0060196",
    "recommended_name": {
        "id": "DOID:0060196",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060196",
        "name": "amyotrophic lateral sclerosis type 4",
        "description": "An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the SETX gene on chromosome 9."
    },
    "synonyms": [
        {
            "id": "DOID:0060196",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060196",
            "name": "distal hereditary motor neuropathy with pyramidal features",
            "description": ""
        },
        {
            "id": "DOID:0060196",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060196",
            "name": "amyotrophic lateral sclerosis 4",
            "description": ""
        },
        {
            "id": "DOID:0060196",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060196",
            "name": "amyotrophic lateral sclerosis 4, juvenile",
            "description": ""
        },
        {
            "id": "DOID:0060196",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060196",
            "name": "dHMN with upper motor neuron signs",
            "description": ""
        },
        {
            "id": "DOID:0060196",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060196",
            "name": "distal hereditary motor neuropathy with upper motor neuron signs",
            "description": ""
        },
        {
            "id": "DOID:0060196",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060196",
            "name": "ALS4",
            "description": ""
        },
        {
            "id": "MONDO:0011223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011223",
            "name": "amyotrophic lateral sclerosis type 4",
            "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SETX gene."
        },
        {
            "id": "MONDO:0011223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011223",
            "name": "ALS 4",
            "description": ""
        },
        {
            "id": "MONDO:0011223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011223",
            "name": "ALS4",
            "description": ""
        },
        {
            "id": "MONDO:0011223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011223",
            "name": "SETX amyotrophic lateral sclerosis",
            "description": ""
        },
        {
            "id": "MONDO:0011223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011223",
            "name": "amyotrophic lateral sclerosis 4, juvenile",
            "description": ""
        },
        {
            "id": "MONDO:0011223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011223",
            "name": "amyotrophic lateral sclerosis caused by mutation in SETX",
            "description": ""
        },
        {
            "id": "MONDO:0011223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011223",
            "name": "dHMN with upper motor neuron signs",
            "description": ""
        },
        {
            "id": "MONDO:0011223",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011223",
            "name": "distal hereditary motor neuropathy with upper motor neuron signs",
            "description": ""
        },
        {
            "id": "MIM:602433",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602433",
            "name": "Amyotrophic lateral sclerosis 4",
            "description": "Amyotrophic lateral sclerosis 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060196"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060196",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060196",
            "categories": []
        },
        {
            "id": "MONDO:0011223",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011223",
            "categories": []
        },
        {
            "id": "MIM:602433",
            "database": "MIM",
            "url": "https://www.omim.org/entry/602433",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TAN1-1",
            "uniprot_ac": "A0AB32TAN1",
            "uniprot_id": "A0AB32TAN1_DANRE",
            "refseq_ac": "XP_068072062",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable helicase senataxin isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "probable helicase senataxin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "setx",
                    "type": "recommended"
                },
                {
                    "name": "setx",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TAN1-1",
            "evidence": [
                {
                    "id": "0060196",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060196"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2AKX3-1",
            "uniprot_ac": "A2AKX3",
            "uniprot_id": "SETX_MOUSE",
            "refseq_ac": "NP_932150",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Helicase senataxin",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
                    "type": "synonym"
                },
                {
                    "name": "Amyotrophic lateral sclerosis 4 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "RNA:DNA and DNA:DNA 5'-3' helicase Setx",
                    "type": "synonym"
                },
                {
                    "name": "SEN1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 4 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "helicase senataxin",
                    "type": "synonym"
                },
                {
                    "name": "probable helicase senataxin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Setx",
                    "type": "recommended"
                },
                {
                    "name": "A130090N03",
                    "type": "synonym"
                },
                {
                    "name": "A930037J23Rik",
                    "type": "synonym"
                },
                {
                    "name": "AOA2",
                    "type": "synonym"
                },
                {
                    "name": "Als4",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0625",
                    "type": "synonym"
                },
                {
                    "name": "SCAR1",
                    "type": "synonym"
                },
                {
                    "name": "Sen1",
                    "type": "synonym"
                },
                {
                    "name": "Setx",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0625",
                    "type": "synonym"
                }
            ],
            "record_id": "A2AKX3-1",
            "evidence": [
                {
                    "id": "0060196",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060196"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7Z333-1",
            "uniprot_ac": "Q7Z333",
            "uniprot_id": "SETX_HUMAN",
            "refseq_ac": "NP_055861",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Helicase senataxin",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
                    "type": "synonym"
                },
                {
                    "name": "Amyotrophic lateral sclerosis 4 protein",
                    "type": "synonym"
                },
                {
                    "name": "RNA:DNA and DNA:DNA 5'-3' helicase SETX",
                    "type": "synonym"
                },
                {
                    "name": "SEN1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Senataxin",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 4 protein",
                    "type": "synonym"
                },
                {
                    "name": "helicase senataxin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "probable helicase senataxin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SETX",
                    "type": "recommended"
                },
                {
                    "name": "ALS4",
                    "type": "synonym"
                },
                {
                    "name": "AOA2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0625",
                    "type": "synonym"
                },
                {
                    "name": "SCAN2",
                    "type": "synonym"
                },
                {
                    "name": "SCAR1",
                    "type": "synonym"
                },
                {
                    "name": "SETX",
                    "type": "synonym"
                },
                {
                    "name": "STEX",
                    "type": "synonym"
                },
                {
                    "name": "Sen1",
                    "type": "synonym"
                },
                {
                    "name": "bA479K20.2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7Z333-1",
            "evidence": [
                {
                    "id": "602433",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/602433"
                },
                {
                    "id": "0060196",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060196"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00416-1",
            "uniprot_ac": "Q00416",
            "uniprot_id": "SEN1_YEAST",
            "refseq_ac": "NP_013534",
            "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": "Helicase SEN1",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
                    "type": "synonym"
                },
                {
                    "name": "DNA/RNA helicase SEN1",
                    "type": "synonym"
                },
                {
                    "name": "DNA:DNA and RNA:DNA 5'-3' helicase SEN1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-splicing endonuclease positive effector",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEN1",
                    "type": "recommended"
                },
                {
                    "name": "CIK3",
                    "type": "synonym"
                },
                {
                    "name": "L9576.1",
                    "type": "synonym"
                },
                {
                    "name": "NRD2",
                    "type": "synonym"
                },
                {
                    "name": "SEN1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00416-1",
            "evidence": [
                {
                    "id": "0060196",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060196"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZYQ6-1",
            "uniprot_ac": "A0A8I5ZYQ6",
            "uniprot_id": "A0A8I5ZYQ6_RAT",
            "refseq_ac": "XP_006233948",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Senataxin",
                    "type": "synonym"
                },
                {
                    "name": "probable helicase senataxin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Setx",
                    "type": "recommended"
                },
                {
                    "name": "RGD1565575",
                    "type": "synonym"
                },
                {
                    "name": "Setx",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZYQ6-1",
            "evidence": [
                {
                    "id": "0060196",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060196"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B7Z0D7-1",
            "uniprot_ac": "B7Z0D7",
            "uniprot_id": "B7Z0D7_DROME",
            "refseq_ac": "NP_001137907",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG7504-PB",
                    "type": "synonym"
                },
                {
                    "name": "Senataxin, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Setx-PB",
                    "type": "synonym"
                },
                {
                    "name": "senataxin, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "senataxin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Setx",
                    "type": "recommended"
                },
                {
                    "name": "CG7504",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7504",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7504",
                    "type": "synonym"
                },
                {
                    "name": "Setx",
                    "type": "synonym"
                },
                {
                    "name": "dSETX",
                    "type": "synonym"
                }
            ],
            "record_id": "B7Z0D7-1",
            "evidence": [
                {
                    "id": "0060196",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060196"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060196"
}