{
    "disease_id": "DOID:0081441",
    "recommended_name": {
        "id": "DOID:0081441",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081441",
        "name": "Nicolaides-Baraitser syndrome",
        "description": "A syndrome that is characterized by severely impaired intellectual development, early-onset seizures, short stature, dysmorphic facial features, and sparse hair and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24."
    },
    "synonyms": [
        {
            "id": "DOID:0081441",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081441",
            "name": "Intellectual disability-sparse hair-brachydactyly syndrome",
            "description": ""
        },
        {
            "id": "DOID:0081441",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081441",
            "name": "SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME",
            "description": ""
        },
        {
            "id": "MONDO:0011053",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011053",
            "name": "intellectual disability-sparse hair-brachydactyly syndrome",
            "description": "Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now."
        },
        {
            "id": "MONDO:0011053",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011053",
            "name": "Nicolaides-Baraitser syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011053",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011053",
            "name": "SMARCA2-related BAFopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011053",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011053",
            "name": "intellectual disability-sparse hair-brachydactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011053",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011053",
            "name": "NCBRS",
            "description": ""
        },
        {
            "id": "MONDO:0011053",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011053",
            "name": "NICOLAIDES-Baraitser syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011053",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011053",
            "name": "sparse hair and mental retardation",
            "description": ""
        },
        {
            "id": "MIM:601358",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601358",
            "name": "Nicolaides-Baraitser syndrome",
            "description": "Nicolaides-Baraitser syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081441"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081441",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081441",
            "categories": []
        },
        {
            "id": "MONDO:0011053",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011053",
            "categories": []
        },
        {
            "id": "MIM:601358",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601358",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DIC0-1",
            "uniprot_ac": "Q6DIC0",
            "uniprot_id": "SMCA2_MOUSE",
            "refseq_ac": "NP_001334368",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent helicase SMARCA2",
                    "type": "synonym"
                },
                {
                    "name": "BAF190B",
                    "type": "synonym"
                },
                {
                    "name": "BRG1-associated factor 190B",
                    "type": "synonym"
                },
                {
                    "name": "Probable global transcription activator SNF2L2",
                    "type": "synonym"
                },
                {
                    "name": "Protein brahma homolog",
                    "type": "synonym"
                },
                {
                    "name": "SAMRCA2",
                    "type": "synonym"
                },
                {
                    "name": "SNF2-alpha",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 isoform 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2",
                    "type": "synonym"
                },
                {
                    "name": "probable global transcription activator SNF2L2",
                    "type": "synonym"
                },
                {
                    "name": "protein brahma homolog",
                    "type": "synonym"
                },
                {
                    "name": "subunit of the SWI/SNF chromatin remodeling complex",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smarca2",
                    "type": "recommended"
                },
                {
                    "name": "2610209L14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Baf190b",
                    "type": "synonym"
                },
                {
                    "name": "Brm",
                    "type": "synonym"
                },
                {
                    "name": "SAMRCA2",
                    "type": "synonym"
                },
                {
                    "name": "SNF2alpha",
                    "type": "synonym"
                },
                {
                    "name": "Smarca2",
                    "type": "synonym"
                },
                {
                    "name": "Snf2a",
                    "type": "synonym"
                },
                {
                    "name": "Snf2l2",
                    "type": "synonym"
                },
                {
                    "name": "brahma",
                    "type": "synonym"
                },
                {
                    "name": "brm",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DIC0-1",
            "evidence": [
                {
                    "id": "0081441",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081441"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3TKT4-1",
            "uniprot_ac": "Q3TKT4",
            "uniprot_id": "SMCA4_MOUSE",
            "refseq_ac": "NP_001167549",
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                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent helicase SMARCA4",
                    "type": "synonym"
                },
                {
                    "name": "BAF190A",
                    "type": "synonym"
                },
                {
                    "name": "BRG1-associated factor 190A",
                    "type": "synonym"
                },
                {
                    "name": "Protein brahma homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "SMARCA4",
                    "type": "synonym"
                },
                {
                    "name": "SNF2-beta",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4",
                    "type": "synonym"
                },
                {
                    "name": "Transcription activator BRG1",
                    "type": "synonym"
                },
                {
                    "name": "protein brahma homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "transcription activator BRG1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smarca4",
                    "type": "recommended"
                },
                {
                    "name": "BAF190A",
                    "type": "synonym"
                },
                {
                    "name": "Baf190a",
                    "type": "synonym"
                },
                {
                    "name": "Brg1",
                    "type": "synonym"
                },
                {
                    "name": "HP1-BP72",
                    "type": "synonym"
                },
                {
                    "name": "SNF2beta",
                    "type": "synonym"
                },
                {
                    "name": "SW1/SNF",
                    "type": "synonym"
                },
                {
                    "name": "Smarca4",
                    "type": "synonym"
                },
                {
                    "name": "Snf2b",
                    "type": "synonym"
                },
                {
                    "name": "Snf2l4",
                    "type": "synonym"
                },
                {
                    "name": "b2b508.1Clo",
                    "type": "synonym"
                },
                {
                    "name": "b2b692Clo",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3TKT4-1",
            "evidence": [
                {
                    "id": "0081441",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081441"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51531-1",
            "uniprot_ac": "P51531",
            "uniprot_id": "SMCA2_HUMAN",
            "refseq_ac": "NP_001276325",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent helicase SMARCA2",
                    "type": "synonym"
                },
                {
                    "name": "BAF190B",
                    "type": "synonym"
                },
                {
                    "name": "BRG1-associated factor 190B",
                    "type": "synonym"
                },
                {
                    "name": "Probable global transcription activator SNF2L2",
                    "type": "synonym"
                },
                {
                    "name": "Protein brahma homolog",
                    "type": "synonym"
                },
                {
                    "name": "SAMRCA2",
                    "type": "synonym"
                },
                {
                    "name": "SNF2-alpha",
                    "type": "synonym"
                },
                {
                    "name": "SNF2/SWI2-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin a2",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "brahma homolog",
                    "type": "synonym"
                },
                {
                    "name": "global transcription activator homologous sequence",
                    "type": "synonym"
                },
                {
                    "name": "hBRM",
                    "type": "synonym"
                },
                {
                    "name": "probable global transcription activator SNF2L2",
                    "type": "synonym"
                },
                {
                    "name": "protein brahma homolog",
                    "type": "synonym"
                },
                {
                    "name": "putative global transcription activator SNF2L2",
                    "type": "synonym"
                },
                {
                    "name": "sucrose nonfermenting 2-like protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SMARCA2",
                    "type": "recommended"
                },
                {
                    "name": "BAF190B",
                    "type": "synonym"
                },
                {
                    "name": "BAF190",
                    "type": "synonym"
                },
                {
                    "name": "BIS",
                    "type": "synonym"
                },
                {
                    "name": "BRM",
                    "type": "synonym"
                },
                {
                    "name": "NCBRS",
                    "type": "synonym"
                },
                {
                    "name": "SAMRCA2",
                    "type": "synonym"
                },
                {
                    "name": "SMARCA2",
                    "type": "synonym"
                },
                {
                    "name": "SNF2A",
                    "type": "synonym"
                },
                {
                    "name": "SNF2L2",
                    "type": "synonym"
                },
                {
                    "name": "SNF2LA",
                    "type": "synonym"
                },
                {
                    "name": "SNF2",
                    "type": "synonym"
                },
                {
                    "name": "SWI2",
                    "type": "synonym"
                },
                {
                    "name": "Sth1p",
                    "type": "synonym"
                },
                {
                    "name": "hBRM",
                    "type": "synonym"
                },
                {
                    "name": "hSNF2a",
                    "type": "synonym"
                }
            ],
            "record_id": "P51531-1",
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                {
                    "id": "601358",
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                    "url": "https://www.omim.org/entry/601358"
                },
                {
                    "id": "0081441",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081441"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32597-1",
            "uniprot_ac": "P32597",
            "uniprot_id": "STH1_YEAST",
            "refseq_ac": "NP_012140",
            "glycoprotein": "yes",
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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": "Nuclear protein STH1/NPS1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.12",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent helicase STH1",
                    "type": "synonym"
                },
                {
                    "name": "Chromatin structure-remodeling complex protein STH1",
                    "type": "synonym"
                },
                {
                    "name": "RSC chromatin remodeling complex ATPase subunit STH1",
                    "type": "synonym"
                },
                {
                    "name": "SNF2 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STH1",
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                    "name": "NPS1",
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                {
                    "name": "STH1",
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                {
                    "id": "0081441",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0081441"
                }
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        {
            "uniprot_canonical_ac": "P22082-1",
            "uniprot_ac": "P22082",
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            "refseq_ac": "NP_014933",
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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": "SWI/SNF chromatin-remodeling complex subunit SNF2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
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                {
                    "name": "ATP-dependent chromatin remodeler SNF2",
                    "type": "synonym"
                },
                {
                    "name": "Regulatory protein GAM1",
                    "type": "synonym"
                },
                {
                    "name": "Regulatory protein SWI2",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF catalytic subunit SNF2",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF complex component SNF2",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor TYE3",
                    "type": "synonym"
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                {
                    "name": "Transcription regulatory protein SNF2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "SNF2",
                    "type": "recommended"
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                    "name": "GAM1",
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                    "name": "HAF1",
                    "type": "synonym"
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                {
                    "name": "RIC1",
                    "type": "synonym"
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                {
                    "name": "SNF2",
                    "type": "synonym"
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                {
                    "name": "SWI2",
                    "type": "synonym"
                },
                {
                    "name": "TYE3",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0081441",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081441"
                }
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        {
            "uniprot_canonical_ac": "E9PTG1-1",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2",
                    "type": "synonym"
                },
                {
                    "name": "probable global transcription activator SNF2L2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "probable global transcription activator SNF2L2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smarca2",
                    "type": "recommended"
                },
                {
                    "name": "Smarca2",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PTG1-1",
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                    "id": "0081441",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0081441"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K1P7-1",
            "uniprot_ac": "Q8K1P7",
            "uniprot_id": "SMCA4_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
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                },
                {
                    "name": "BAF190A",
                    "type": "synonym"
                },
                {
                    "name": "BRG1-associated factor 190A",
                    "type": "synonym"
                },
                {
                    "name": "Protein brahma homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "SMARCA4",
                    "type": "synonym"
                },
                {
                    "name": "SNF2-beta",
                    "type": "synonym"
                },
                {
                    "name": "Transcription activator BRG1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
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                    "name": "Smarca4",
                    "type": "recommended"
                },
                {
                    "name": "Baf190a",
                    "type": "synonym"
                },
                {
                    "name": "Brg1",
                    "type": "synonym"
                },
                {
                    "name": "Snf2b",
                    "type": "synonym"
                },
                {
                    "name": "Snf2l4",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0081441",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081441"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25439-1",
            "uniprot_ac": "P25439",
            "uniprot_id": "BRM_DROME",
            "refseq_ac": "NP_536745",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Brahma chromatin-remodeling complex ATPase subunit",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "CG5942-PC",
                    "type": "synonym"
                },
                {
                    "name": "Homeotic gene regulator",
                    "type": "synonym"
                },
                {
                    "name": "Protein brahma",
                    "type": "synonym"
                },
                {
                    "name": "brahma, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "brahma",
                    "type": "synonym"
                },
                {
                    "name": "brm-PC",
                    "type": "synonym"
                },
                {
                    "name": "complementation group 3.5",
                    "type": "synonym"
                }
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            "gene_names": [
                {
                    "name": "brm",
                    "type": "recommended"
                },
                {
                    "name": "BRD",
                    "type": "synonym"
                },
                {
                    "name": "BRM",
                    "type": "synonym"
                },
                {
                    "name": "Brahma",
                    "type": "synonym"
                },
                {
                    "name": "Brg",
                    "type": "synonym"
                },
                {
                    "name": "Brm @ Kto",
                    "type": "synonym"
                },
                {
                    "name": "Brm",
                    "type": "synonym"
                },
                {
                    "name": "CG18438",
                    "type": "synonym"
                },
                {
                    "name": "CG5942",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5942",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5942",
                    "type": "synonym"
                },
                {
                    "name": "E(E2F)3A",
                    "type": "synonym"
                },
                {
                    "name": "brm",
                    "type": "synonym"
                },
                {
                    "name": "dBRM",
                    "type": "synonym"
                },
                {
                    "name": "dSMARCA4",
                    "type": "synonym"
                },
                {
                    "name": "dSNF2",
                    "type": "synonym"
                },
                {
                    "name": "l(3)72Aa",
                    "type": "synonym"
                }
            ],
            "record_id": "P25439-1",
            "evidence": [
                {
                    "id": "0081441",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081441"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51532-1",
            "uniprot_ac": "P51532",
            "uniprot_id": "SMCA4_HUMAN",
            "refseq_ac": "NP_001122316",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent helicase SMARCA4",
                    "type": "synonym"
                },
                {
                    "name": "BAF190A",
                    "type": "synonym"
                },
                {
                    "name": "BRG1-associated factor 190A",
                    "type": "synonym"
                },
                {
                    "name": "BRM/SWI2-related gene 1",
                    "type": "synonym"
                },
                {
                    "name": "Mitotic growth and transcription activator",
                    "type": "synonym"
                },
                {
                    "name": "Protein BRG-1",
                    "type": "synonym"
                },
                {
                    "name": "Protein brahma homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "SMARCA4",
                    "type": "synonym"
                },
                {
                    "name": "SNF2-beta",
                    "type": "synonym"
                },
                {
                    "name": "SNF2-like 4",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4 isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Transcription activator BRG1",
                    "type": "synonym"
                },
                {
                    "name": "brahma protein-like 1",
                    "type": "synonym"
                },
                {
                    "name": "global transcription activator homologous sequence",
                    "type": "synonym"
                },
                {
                    "name": "homeotic gene regulator",
                    "type": "synonym"
                },
                {
                    "name": "mitotic growth and transcription activator",
                    "type": "synonym"
                },
                {
                    "name": "nuclear protein GRB1",
                    "type": "synonym"
                },
                {
                    "name": "protein BRG-1",
                    "type": "synonym"
                },
                {
                    "name": "protein brahma homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "sucrose nonfermenting-like 4",
                    "type": "synonym"
                },
                {
                    "name": "transcription activator BRG1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SMARCA4",
                    "type": "recommended"
                },
                {
                    "name": "BAF190A",
                    "type": "synonym"
                },
                {
                    "name": "BAF190",
                    "type": "synonym"
                },
                {
                    "name": "BRG1",
                    "type": "synonym"
                },
                {
                    "name": "CSS4",
                    "type": "synonym"
                },
                {
                    "name": "MRD16",
                    "type": "synonym"
                },
                {
                    "name": "OTSC12",
                    "type": "synonym"
                },
                {
                    "name": "RTPS2",
                    "type": "synonym"
                },
                {
                    "name": "SMARCA4",
                    "type": "synonym"
                },
                {
                    "name": "SNF2-beta",
                    "type": "synonym"
                },
                {
                    "name": "SNF2B",
                    "type": "synonym"
                },
                {
                    "name": "SNF2L4",
                    "type": "synonym"
                },
                {
                    "name": "SNF2LB",
                    "type": "synonym"
                },
                {
                    "name": "SNF2",
                    "type": "synonym"
                },
                {
                    "name": "SWI2",
                    "type": "synonym"
                },
                {
                    "name": "hSNF2b",
                    "type": "synonym"
                }
            ],
            "record_id": "P51532-1",
            "evidence": [
                {
                    "id": "0081441",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081441"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081441"
}