{
    "disease_id": "DOID:0081380",
    "recommended_name": {
        "id": "DOID:0081380",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081380",
        "name": "amyotrophic lateral sclerosis type 26",
        "description": "An amyotrophic lateral sclerosis that is characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness and that has_material_basis_in heterozygous mutation in the TIA1 gene on chromosome 2p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0030885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030885",
            "name": "amyotrophic lateral sclerosis 26 with or without frontotemporal dementia",
            "description": ""
        },
        {
            "id": "MONDO:0030885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030885",
            "name": "ALS26",
            "description": ""
        },
        {
            "id": "MIM:619133",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619133",
            "name": "Amyotrophic lateral sclerosis 26, with or without frontotemporal dementia",
            "description": "Amyotrophic lateral sclerosis 26, with or without frontotemporal dementia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081380"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081380",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081380",
            "categories": []
        },
        {
            "id": "MONDO:0030885",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030885",
            "categories": []
        },
        {
            "id": "MIM:619133",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619133",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P52912-1",
            "uniprot_ac": "P52912",
            "uniprot_id": "TIA1_MOUSE",
            "refseq_ac": "NP_035715",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytotoxic granule associated RNA binding protein TIA1",
                    "type": "recommended"
                },
                {
                    "name": "Nucleolysin TIA-1",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein TIA-1",
                    "type": "synonym"
                },
                {
                    "name": "T-cell-restricted intracellular antigen-1",
                    "type": "synonym"
                },
                {
                    "name": "TIA-1",
                    "type": "synonym"
                },
                {
                    "name": "cytotoxic granule associated RNA binding protein TIA1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cytotoxic granule associated RNA binding protein TIA1",
                    "type": "synonym"
                },
                {
                    "name": "nucleolysin TIA-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tia1",
                    "type": "recommended"
                },
                {
                    "name": "2310050N03Rik",
                    "type": "synonym"
                },
                {
                    "name": "TIA-1",
                    "type": "synonym"
                },
                {
                    "name": "Tia1",
                    "type": "synonym"
                },
                {
                    "name": "Tia",
                    "type": "synonym"
                },
                {
                    "name": "mTIA-1",
                    "type": "synonym"
                }
            ],
            "record_id": "P52912-1",
            "evidence": [
                {
                    "id": "0081380",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081380"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31483-1",
            "uniprot_ac": "P31483",
            "uniprot_id": "TIA1_HUMAN",
            "refseq_ac": "NP_071320",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytotoxic granule associated RNA binding protein TIA1",
                    "type": "recommended"
                },
                {
                    "name": "Nucleolysin TIA-1 isoform p40",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein TIA-1",
                    "type": "synonym"
                },
                {
                    "name": "T-cell-restricted intracellular antigen-1",
                    "type": "synonym"
                },
                {
                    "name": "TIA-1",
                    "type": "synonym"
                },
                {
                    "name": "cytotoxic granule associated RNA binding protein TIA1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cytotoxic granule associated RNA binding protein TIA1",
                    "type": "synonym"
                },
                {
                    "name": "p40-TIA-1 (containing p15-TIA-1)",
                    "type": "synonym"
                },
                {
                    "name": "p40-TIA-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TIA1",
                    "type": "recommended"
                },
                {
                    "name": "ALS26",
                    "type": "synonym"
                },
                {
                    "name": "TIA-1",
                    "type": "synonym"
                },
                {
                    "name": "TIA1",
                    "type": "synonym"
                },
                {
                    "name": "WDM",
                    "type": "synonym"
                }
            ],
            "record_id": "P31483-1",
            "evidence": [
                {
                    "id": "619133",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619133"
                },
                {
                    "id": "0081380",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081380"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00539-1",
            "uniprot_ac": "Q00539",
            "uniprot_id": "NAM8_YEAST",
            "refseq_ac": "NP_011954",
            "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": "Protein NAM8",
                    "type": "recommended"
                },
                {
                    "name": "Nam8p",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear accommodation of mitochondria protein 8",
                    "type": "synonym"
                },
                {
                    "name": "U1 snRNP component NAM8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NAM8",
                    "type": "recommended"
                },
                {
                    "name": "MRE2",
                    "type": "synonym"
                },
                {
                    "name": "MUD15",
                    "type": "synonym"
                },
                {
                    "name": "NAM8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00539-1",
            "evidence": [
                {
                    "id": "0081380",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081380"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32588-1",
            "uniprot_ac": "P32588",
            "uniprot_id": "PUB1_YEAST",
            "refseq_ac": "NP_014382",
            "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": "Nuclear and cytoplasmic polyadenylated RNA-binding protein PUB1",
                    "type": "recommended"
                },
                {
                    "name": "ARS consensus-binding protein ACBP-60",
                    "type": "synonym"
                },
                {
                    "name": "Poly uridylate-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Poly(U)-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Pub1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PUB1",
                    "type": "recommended"
                },
                {
                    "name": "N2842",
                    "type": "synonym"
                },
                {
                    "name": "PUB1",
                    "type": "synonym"
                },
                {
                    "name": "RNP1",
                    "type": "synonym"
                }
            ],
            "record_id": "P32588-1",
            "evidence": [
                {
                    "id": "0081380",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081380"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AQH6-1",
            "uniprot_ac": "A0A8I6AQH6",
            "uniprot_id": "A0A8I6AQH6_RAT",
            "refseq_ac": "NP_001430607",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytotoxic granule associated RNA binding protein TIA1",
                    "type": "recommended"
                },
                {
                    "name": "RNA-binding protein TIA-1",
                    "type": "synonym"
                },
                {
                    "name": "T-cell-restricted intracellular antigen-1",
                    "type": "synonym"
                },
                {
                    "name": "cytotoxic granule associated RNA binding protein TIA1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cytotoxic granule associated RNA binding protein TIA1",
                    "type": "synonym"
                },
                {
                    "name": "cytotoxic granule-associated RNA binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "nucleolysin TIA-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tia1",
                    "type": "recommended"
                },
                {
                    "name": "Tia1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AQH6-1",
            "evidence": [
                {
                    "id": "0081380",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081380"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8JPX0-1",
            "uniprot_ac": "A8JPX0",
            "uniprot_id": "A8JPX0_DROME",
            "refseq_ac": "NP_001097953",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "RRM domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG34354-PF",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform F",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG12425",
                    "type": "recommended"
                },
                {
                    "name": "CG12852",
                    "type": "recommended"
                },
                {
                    "name": "CG12425",
                    "type": "synonym"
                },
                {
                    "name": "CG12852",
                    "type": "synonym"
                },
                {
                    "name": "CG34354",
                    "type": "synonym"
                },
                {
                    "name": "CG4787",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG34354",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG34354",
                    "type": "synonym"
                },
                {
                    "name": "cg4787",
                    "type": "synonym"
                }
            ],
            "record_id": "A8JPX0-1",
            "evidence": [
                {
                    "id": "0081380",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081380"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IMX4-1",
            "uniprot_ac": "Q8IMX4",
            "uniprot_id": "Q8IMX4_DROME",
            "refseq_ac": "NP_001262897",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5422-PG",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein 12",
                    "type": "synonym"
                },
                {
                    "name": "Rox8, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Rox8, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "Rox8, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "Rox8, isoform H",
                    "type": "synonym"
                },
                {
                    "name": "Rox8-PG",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rox8",
                    "type": "recommended"
                },
                {
                    "name": "CG5422",
                    "type": "synonym"
                },
                {
                    "name": "DmTIAR",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5422",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5422",
                    "type": "synonym"
                },
                {
                    "name": "ROX8",
                    "type": "synonym"
                },
                {
                    "name": "RRM12",
                    "type": "synonym"
                },
                {
                    "name": "Rbp12",
                    "type": "synonym"
                },
                {
                    "name": "Rox-8",
                    "type": "synonym"
                },
                {
                    "name": "Rox8",
                    "type": "synonym"
                },
                {
                    "name": "TIAR",
                    "type": "synonym"
                },
                {
                    "name": "dTIAR",
                    "type": "synonym"
                },
                {
                    "name": "rox8",
                    "type": "synonym"
                },
                {
                    "name": "rrm12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IMX4-1",
            "evidence": [
                {
                    "id": "0081380",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081380"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E1JIZ9-1",
            "uniprot_ac": "E1JIZ9",
            "uniprot_id": "E1JIZ9_DROME",
            "refseq_ac": "NP_001163754",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG34362-PI",
                    "type": "synonym"
                },
                {
                    "name": "Trivet, isoform I",
                    "type": "synonym"
                },
                {
                    "name": "trivet, isoform I",
                    "type": "synonym"
                },
                {
                    "name": "trv-PI",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trv",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RE10833",
                    "type": "synonym"
                },
                {
                    "name": "CG12870",
                    "type": "synonym"
                },
                {
                    "name": "CG12872",
                    "type": "synonym"
                },
                {
                    "name": "CG34362",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG34362",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG34362",
                    "type": "synonym"
                },
                {
                    "name": "Tia1-like",
                    "type": "synonym"
                },
                {
                    "name": "trv",
                    "type": "synonym"
                }
            ],
            "record_id": "E1JIZ9-1",
            "evidence": [
                {
                    "id": "0081380",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081380"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081380"
}