{
    "disease_id": "DOID:0110107",
    "recommended_name": {
        "id": "DOID:0110107",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110107",
        "name": "atrial heart septal defect 2",
        "description": "An atrial heart septal defect type 2 that has_material_basis_in heterozygous mutation in the GATA4 gene on chromosome 8p23."
    },
    "synonyms": [
        {
            "id": "DOID:0110107",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110107",
            "name": "ASD2",
            "description": ""
        },
        {
            "id": "DOID:0110107",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110107",
            "name": "atrial septal defect 2",
            "description": ""
        },
        {
            "id": "MONDO:0011938",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011938",
            "name": "atrial septal defect 2",
            "description": "Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA4 gene."
        },
        {
            "id": "MONDO:0011938",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011938",
            "name": "ASD2",
            "description": ""
        },
        {
            "id": "MONDO:0011938",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011938",
            "name": "GATA4 atrial heart septal defect",
            "description": ""
        },
        {
            "id": "MONDO:0011938",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011938",
            "name": "atrial heart septal defect caused by mutation in GATA4",
            "description": ""
        },
        {
            "id": "MONDO:0011938",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011938",
            "name": "atrial heart septal defect type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011938",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011938",
            "name": "atrial septal defect 2",
            "description": ""
        },
        {
            "id": "MONDO:0011938",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011938",
            "name": "atrial septal defect type 2",
            "description": ""
        },
        {
            "id": "MIM:607941",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607941",
            "name": "Atrial septal defect 2",
            "description": "Atrial septal defect 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110107"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110107",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110107",
            "categories": []
        },
        {
            "id": "MONDO:0011938",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011938",
            "categories": []
        },
        {
            "id": "MIM:607941",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607941",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q08369-1",
            "uniprot_ac": "Q08369",
            "uniprot_id": "GATA4_MOUSE",
            "refseq_ac": "NP_032118",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor GATA-4",
                    "type": "recommended"
                },
                {
                    "name": "GATA-binding factor 4",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor GATA-4 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor GATA-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gata4",
                    "type": "recommended"
                },
                {
                    "name": "Gata-4",
                    "type": "synonym"
                },
                {
                    "name": "Gata4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08369-1",
            "evidence": [
                {
                    "id": "0110107",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110107"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43694-1",
            "uniprot_ac": "P43694",
            "uniprot_id": "GATA4_HUMAN",
            "refseq_ac": "NP_001295022",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor GATA-4",
                    "type": "recommended"
                },
                {
                    "name": "GATA-binding factor 4",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor GATA-4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor GATA-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GATA4",
                    "type": "recommended"
                },
                {
                    "name": "ASD2",
                    "type": "synonym"
                },
                {
                    "name": "GATA4",
                    "type": "synonym"
                },
                {
                    "name": "TACHD",
                    "type": "synonym"
                },
                {
                    "name": "TOF",
                    "type": "synonym"
                },
                {
                    "name": "VSD1",
                    "type": "synonym"
                }
            ],
            "record_id": "P43694-1",
            "evidence": [
                {
                    "id": "607941",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607941"
                },
                {
                    "id": "0110107",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110107"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42944-1",
            "uniprot_ac": "P42944",
            "uniprot_id": "GZF3_YEAST",
            "refseq_ac": "NP_012425",
            "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 GZF3",
                    "type": "recommended"
                },
                {
                    "name": "Gzf3p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GZF3",
                    "type": "recommended"
                },
                {
                    "name": "DEH1",
                    "type": "synonym"
                },
                {
                    "name": "GZF3",
                    "type": "synonym"
                },
                {
                    "name": "J0806",
                    "type": "synonym"
                },
                {
                    "name": "NIL2",
                    "type": "synonym"
                }
            ],
            "record_id": "P42944-1",
            "evidence": [
                {
                    "id": "0110107",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110107"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43574-1",
            "uniprot_ac": "P43574",
            "uniprot_id": "GAT1_YEAST",
            "refseq_ac": "NP_116632",
            "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": "Transcriptional regulatory protein GAT1",
                    "type": "recommended"
                },
                {
                    "name": "Gat1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GAT1",
                    "type": "recommended"
                },
                {
                    "name": "GAT1",
                    "type": "synonym"
                },
                {
                    "name": "MEP80",
                    "type": "synonym"
                },
                {
                    "name": "NIL1",
                    "type": "synonym"
                }
            ],
            "record_id": "P43574-1",
            "evidence": [
                {
                    "id": "0110107",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110107"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46152-1",
            "uniprot_ac": "P46152",
            "uniprot_id": "GATA4_RAT",
            "refseq_ac": "NP_653331",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor GATA-4",
                    "type": "recommended"
                },
                {
                    "name": "DNA-binding protein GATA-GT2",
                    "type": "synonym"
                },
                {
                    "name": "GATA-binding factor 4",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor GATA-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gata4",
                    "type": "recommended"
                },
                {
                    "name": "Gata4",
                    "type": "synonym"
                }
            ],
            "record_id": "P46152-1",
            "evidence": [
                {
                    "id": "0110107",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110107"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52168-1",
            "uniprot_ac": "P52168",
            "uniprot_id": "PNR_DROME",
            "refseq_ac": "NP_476685",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "GATA-binding factor A",
                    "type": "recommended"
                },
                {
                    "name": "CG3978-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein pannier",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor GATA-A",
                    "type": "synonym"
                },
                {
                    "name": "dGATA-A",
                    "type": "synonym"
                },
                {
                    "name": "pannier, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "pannier",
                    "type": "synonym"
                },
                {
                    "name": "pnr-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pnr",
                    "type": "recommended"
                },
                {
                    "name": "CG3978-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG3978",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3978",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3978",
                    "type": "synonym"
                },
                {
                    "name": "GATA-A",
                    "type": "synonym"
                },
                {
                    "name": "GATA4",
                    "type": "synonym"
                },
                {
                    "name": "GATAa/Pannier",
                    "type": "synonym"
                },
                {
                    "name": "GATAa",
                    "type": "synonym"
                },
                {
                    "name": "GATA",
                    "type": "synonym"
                },
                {
                    "name": "PNR",
                    "type": "synonym"
                },
                {
                    "name": "Pannier",
                    "type": "synonym"
                },
                {
                    "name": "Pnr",
                    "type": "synonym"
                },
                {
                    "name": "dGATAa/pannier",
                    "type": "synonym"
                },
                {
                    "name": "dGATAa",
                    "type": "synonym"
                },
                {
                    "name": "l(3)89B3",
                    "type": "synonym"
                },
                {
                    "name": "pannier",
                    "type": "synonym"
                },
                {
                    "name": "pnr",
                    "type": "synonym"
                },
                {
                    "name": "prn",
                    "type": "synonym"
                }
            ],
            "record_id": "P52168-1",
            "evidence": [
                {
                    "id": "0110107",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110107"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08174-1",
            "uniprot_ac": "P08174",
            "uniprot_id": "DAF_HUMAN",
            "refseq_ac": "NP_000565",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement decay-accelerating factor",
                    "type": "recommended"
                },
                {
                    "name": "CD55 antigen",
                    "type": "synonym"
                },
                {
                    "name": "CD55 molecule, decay accelerating factor for complement (Cromer blood group)",
                    "type": "synonym"
                },
                {
                    "name": "Cromer blood group antigen",
                    "type": "synonym"
                },
                {
                    "name": "Rh blood group D antigen",
                    "type": "synonym"
                },
                {
                    "name": "complement decay-accelerating factor isoform 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "complement decay-accelerating factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CD55",
                    "type": "recommended"
                },
                {
                    "name": "CD55",
                    "type": "synonym"
                },
                {
                    "name": "CHAPLE",
                    "type": "synonym"
                },
                {
                    "name": "CROM",
                    "type": "synonym"
                },
                {
                    "name": "CR",
                    "type": "synonym"
                },
                {
                    "name": "DAF",
                    "type": "synonym"
                },
                {
                    "name": "TC",
                    "type": "synonym"
                }
            ],
            "record_id": "P08174-1",
            "evidence": [
                {
                    "id": "0110107",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110107"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110107"
}