{
    "disease_id": "DOID:0060211",
    "recommended_name": {
        "id": "DOID:0060211",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060211",
        "name": "amyotrophic lateral sclerosis type 20",
        "description": "An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the HNRNPA1 gene on chromosome 12."
    },
    "synonyms": [
        {
            "id": "DOID:0060211",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060211",
            "name": "ALS20",
            "description": ""
        },
        {
            "id": "DOID:0060211",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060211",
            "name": "amyotrophic lateral sclerosis 20",
            "description": ""
        },
        {
            "id": "MONDO:0014181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014181",
            "name": "amyotrophic lateral sclerosis type 20",
            "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the HNRNPA1 gene."
        },
        {
            "id": "MONDO:0014181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014181",
            "name": "ALS20",
            "description": ""
        },
        {
            "id": "MONDO:0014181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014181",
            "name": "HNRNPA1 amyotrophic lateral sclerosis",
            "description": ""
        },
        {
            "id": "MONDO:0014181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014181",
            "name": "amyotrophic lateral sclerosis 20",
            "description": ""
        },
        {
            "id": "MONDO:0014181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014181",
            "name": "amyotrophic lateral sclerosis caused by mutation in HNRNPA1",
            "description": ""
        },
        {
            "id": "MONDO:0014181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014181",
            "name": "amyotrophic lateral sclerosis type 20",
            "description": ""
        },
        {
            "id": "MIM:615426",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615426",
            "name": "Amyotrophic lateral sclerosis 20",
            "description": "Amyotrophic lateral sclerosis 20"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060211"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060211",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060211",
            "categories": []
        },
        {
            "id": "MONDO:0014181",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014181",
            "categories": []
        },
        {
            "id": "MIM:615426",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615426",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1PGI6-1",
            "uniprot_ac": "A0A8M1PGI6",
            "uniprot_id": "A0A8M1PGI6_DANRE",
            "refseq_ac": "NP_956398",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Heterogeneous nuclear ribonucleoprotein A1b",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein A1b",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein A1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "hnrnpa1b",
                    "type": "recommended"
                },
                {
                    "name": "hnrnpa1b",
                    "type": "synonym"
                },
                {
                    "name": "hnrnpa1",
                    "type": "synonym"
                },
                {
                    "name": "hnrpa1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1PGI6-1",
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                {
                    "id": "0060211",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060211"
                }
            ]
        },
        {
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            "uniprot_id": "A0A8M9QHJ0_DANRE",
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                {
                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heterogeneous nuclear ribonucleoprotein A1a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein A1a isoform 2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "hnrnpa1a",
                    "type": "recommended"
                },
                {
                    "name": "hnrnpa1a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66127",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060211",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060211"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49312-1",
            "uniprot_ac": "P49312",
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            "refseq_ac": "NP_034577",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heterogeneous nuclear ribonucleoprotein A1",
                    "type": "recommended"
                },
                {
                    "name": "HDP-1",
                    "type": "synonym"
                },
                {
                    "name": "Helix-destabilizing protein",
                    "type": "synonym"
                },
                {
                    "name": "Single-strand-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Topoisomerase-inhibitor suppressed",
                    "type": "synonym"
                },
                {
                    "name": "helix-destabilizing protein",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein A1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP A1",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP core protein A1",
                    "type": "synonym"
                },
                {
                    "name": "single-strand-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "topoisomerase-inhibitor suppressed",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hnrnpa1",
                    "type": "recommended"
                },
                {
                    "name": "Fli-2",
                    "type": "synonym"
                },
                {
                    "name": "HDP-1",
                    "type": "synonym"
                },
                {
                    "name": "Hdp",
                    "type": "synonym"
                },
                {
                    "name": "Hnrnpa1",
                    "type": "synonym"
                },
                {
                    "name": "Hnrpa1",
                    "type": "synonym"
                },
                {
                    "name": "Tis",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP A1",
                    "type": "synonym"
                },
                {
                    "name": "hnrnp-A1",
                    "type": "synonym"
                }
            ],
            "record_id": "P49312-1",
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                {
                    "id": "0060211",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060211"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09651-1",
            "uniprot_ac": "P09651",
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            "refseq_ac": "NP_002127",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heterogeneous nuclear ribonucleoprotein A1",
                    "type": "recommended"
                },
                {
                    "name": "Helix-destabilizing protein",
                    "type": "synonym"
                },
                {
                    "name": "Single-strand RNA-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "helix-destabilizing protein",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein A1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein A1B protein",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein B2 protein",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein core protein A1",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP A1",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP core protein A1-like 3",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP core protein A1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear ribonucleoprotein particle A1 protein",
                    "type": "synonym"
                },
                {
                    "name": "putative heterogeneous nuclear ribonucleoprotein A1-like 3",
                    "type": "synonym"
                },
                {
                    "name": "single-strand DNA-binding protein UP1",
                    "type": "synonym"
                },
                {
                    "name": "single-strand RNA-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HNRNPA1",
                    "type": "recommended"
                },
                {
                    "name": "ALS19",
                    "type": "synonym"
                },
                {
                    "name": "ALS20",
                    "type": "synonym"
                },
                {
                    "name": "HNRNPA1",
                    "type": "synonym"
                },
                {
                    "name": "HNRPA1L3",
                    "type": "synonym"
                },
                {
                    "name": "HNRPA1",
                    "type": "synonym"
                },
                {
                    "name": "IBMPFD3",
                    "type": "synonym"
                },
                {
                    "name": "MPD3",
                    "type": "synonym"
                },
                {
                    "name": "UP 1",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP A1",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP-A1",
                    "type": "synonym"
                }
            ],
            "record_id": "P09651-1",
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                {
                    "id": "615426",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615426"
                },
                {
                    "id": "0060211",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060211"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99383-1",
            "uniprot_ac": "Q99383",
            "uniprot_id": "HRP1_YEAST",
            "refseq_ac": "NP_014518",
            "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 polyadenylated RNA-binding protein 4",
                    "type": "recommended"
                },
                {
                    "name": "CFIB",
                    "type": "synonym"
                },
                {
                    "name": "Cleavage factor IB",
                    "type": "synonym"
                },
                {
                    "name": "Heterogeneous nuclear ribonucleoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "Hrp1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HRP1",
                    "type": "recommended"
                },
                {
                    "name": "HRP1",
                    "type": "synonym"
                },
                {
                    "name": "NAB4",
                    "type": "synonym"
                },
                {
                    "name": "NAB5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99383-1",
            "evidence": [
                {
                    "id": "0060211",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060211"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53883-1",
            "uniprot_ac": "P53883",
            "uniprot_id": "NOP13_YEAST",
            "refseq_ac": "NP_014224",
            "glycoprotein": "no",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleolar protein 13",
                    "type": "recommended"
                },
                {
                    "name": "Nop13p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NOP13",
                    "type": "recommended"
                },
                {
                    "name": "N1665",
                    "type": "synonym"
                },
                {
                    "name": "NOP13",
                    "type": "synonym"
                }
            ],
            "record_id": "P53883-1",
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                {
                    "id": "0060211",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060211"
                }
            ]
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        {
            "uniprot_canonical_ac": "P04256-1",
            "uniprot_ac": "P04256",
            "uniprot_id": "ROA1_RAT",
            "refseq_ac": "NP_058944",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heterogeneous nuclear ribonucleoprotein A1",
                    "type": "recommended"
                },
                {
                    "name": "HDP",
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                },
                {
                    "name": "Helix-destabilizing protein",
                    "type": "synonym"
                },
                {
                    "name": "Single-strand RNA-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "helix-destabilizing protein",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein A1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP A1",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP core protein A1",
                    "type": "synonym"
                },
                {
                    "name": "single-strand RNA-binding protein",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Hnrnpa1",
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                {
                    "name": "Hnrnpa1",
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                },
                {
                    "name": "Hnrpa1",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP A1",
                    "type": "synonym"
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            ],
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                {
                    "id": "0060211",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060211"
                }
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            "uniprot_canonical_ac": "P07909-1",
            "uniprot_ac": "P07909",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heterogeneous nuclear ribonucleoprotein A1",
                    "type": "recommended"
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                {
                    "name": "CG9983-PB",
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                {
                    "name": "Hrb98DE-PB",
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                },
                {
                    "name": "PEN repeat clone P9",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein at 98DE, isoform B",
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                {
                    "name": "hnRNA-binding protein 1",
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                {
                    "name": "hnRNP A1",
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                },
                {
                    "name": "hnRNP core protein A1-A",
                    "type": "synonym"
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                {
                    "name": "s",
                    "type": "synonym"
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            ],
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                    "name": "Hrb98DE",
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                {
                    "name": "B1",
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                },
                {
                    "name": "CG9983",
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                {
                    "name": "Dmel\\CG9983",
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                {
                    "name": "Dmel_CG9983",
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                {
                    "name": "E7Delta6",
                    "type": "synonym"
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                {
                    "name": "HDP(P9)",
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                {
                    "name": "HRB98DE/hrp38",
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                {
                    "name": "HRB98DE",
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                {
                    "name": "Hrb1",
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                {
                    "name": "Hrb98 de",
                    "type": "synonym"
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                {
                    "name": "Hrb98DE/Hrp38",
                    "type": "synonym"
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                {
                    "name": "Hrb98DE",
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                {
                    "name": "Hrp38",
                    "type": "synonym"
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                {
                    "name": "Pen9",
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                {
                    "name": "anon-E7Delta6",
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                {
                    "name": "hnRNP A2/B1",
                    "type": "synonym"
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                {
                    "name": "hrb98 de",
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                {
                    "name": "hrb98DE",
                    "type": "synonym"
                },
                {
                    "name": "hrb98de",
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                {
                    "name": "hrp38",
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                {
                    "name": "p9",
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            ],
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                {
                    "id": "0060211",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060211"
                }
            ]
        },
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            "uniprot_canonical_ac": "P48810-1",
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                {
                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Heterogeneous nuclear ribonucleoprotein 87F",
                    "type": "recommended"
                },
                {
                    "name": "CG12749-PC",
                    "type": "synonym"
                },
                {
                    "name": "HRP36.1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Hrb87F-PC",
                    "type": "synonym"
                },
                {
                    "name": "Protein P11",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein at 85CD",
                    "type": "synonym"
                },
                {
                    "name": "heterogeneous nuclear ribonucleoprotein at 87F, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "hnRNA-binding protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hrb87F",
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                },
                {
                    "name": "A2",
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                },
                {
                    "name": "B1",
                    "type": "synonym"
                },
                {
                    "name": "CG12749",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12749",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12749",
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                {
                    "name": "HRB87F/hrp36",
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                },
                {
                    "name": "HRB87F",
                    "type": "synonym"
                },
                {
                    "name": "HRP36",
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                },
                {
                    "name": "Hrb2",
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                },
                {
                    "name": "Hrb85CD",
                    "type": "synonym"
                },
                {
                    "name": "Hrb87Fa",
                    "type": "synonym"
                },
                {
                    "name": "Hrb87F",
                    "type": "synonym"
                },
                {
                    "name": "Hrb87f",
                    "type": "synonym"
                },
                {
                    "name": "Hrp36",
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                },
                {
                    "name": "P11/Hrb87F",
                    "type": "synonym"
                },
                {
                    "name": "P11",
                    "type": "synonym"
                },
                {
                    "name": "Q14",
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                },
                {
                    "name": "Q16",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP A2/B1",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP36",
                    "type": "synonym"
                },
                {
                    "name": "hnRNPA1/A2",
                    "type": "synonym"
                },
                {
                    "name": "hnRNPA1",
                    "type": "synonym"
                },
                {
                    "name": "hnRNPA2/B1",
                    "type": "synonym"
                },
                {
                    "name": "hnRNPA2",
                    "type": "synonym"
                },
                {
                    "name": "hrb87f",
                    "type": "synonym"
                },
                {
                    "name": "hrp36",
                    "type": "synonym"
                },
                {
                    "name": "p38",
                    "type": "synonym"
                }
            ],
            "record_id": "P48810-1",
            "evidence": [
                {
                    "id": "0060211",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060211"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060211"
}