{
    "disease_id": "DOID:0080662",
    "recommended_name": {
        "id": "DOID:0080662",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080662",
        "name": "atrial standstill 1",
        "description": "A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and that has_material_basis_in coinheritance of a variant in the SCN5A gene in combination with a rare connexin-40 genotype."
    },
    "synonyms": [
        {
            "id": "MONDO:0007171",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007171",
            "name": "atrial standstill 1",
            "description": "Any atrial standstill in which the cause of the disease is a mutation in both the GJA5 and SCN5A genes."
        },
        {
            "id": "MONDO:0007171",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007171",
            "name": "atrial standstill 1",
            "description": ""
        },
        {
            "id": "MONDO:0007171",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007171",
            "name": "atrial standstill type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007171",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007171",
            "name": "atrial standstill, digenic (GJA5/SCN5A)",
            "description": ""
        },
        {
            "id": "MONDO:0007171",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007171",
            "name": "ATRST1",
            "description": ""
        },
        {
            "id": "MIM:108770",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/108770",
            "name": "Atrial standstill 1",
            "description": "Atrial standstill 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080662"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080662",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080662",
            "categories": []
        },
        {
            "id": "MONDO:0007171",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007171",
            "categories": []
        },
        {
            "id": "MIM:108770",
            "database": "MIM",
            "url": "https://www.omim.org/entry/108770",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QL21-1",
            "uniprot_ac": "F1QL21",
            "uniprot_id": "F1QL21_DANRE",
            "refseq_ac": "XP_005167744",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gap junction protein",
                    "type": "recommended"
                },
                {
                    "name": "gap junction protein, alpha 5a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gja5a",
                    "type": "recommended"
                },
                {
                    "name": "cx45.6",
                    "type": "synonym"
                },
                {
                    "name": "gja5a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:195347",
                    "type": "synonym"
                },
                {
                    "name": "zgc:195362",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QL21-1",
            "evidence": [
                {
                    "id": "0080662",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080662"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01231-1",
            "uniprot_ac": "Q01231",
            "uniprot_id": "CXA5_MOUSE",
            "refseq_ac": "NP_001258557",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gap junction alpha-5 protein",
                    "type": "recommended"
                },
                {
                    "name": "Connexin-40",
                    "type": "synonym"
                },
                {
                    "name": "Cx40",
                    "type": "synonym"
                },
                {
                    "name": "connexin i",
                    "type": "synonym"
                },
                {
                    "name": "connexin-40",
                    "type": "synonym"
                },
                {
                    "name": "gap junction alpha-5 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction membrane channel protein alpha 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gja5",
                    "type": "recommended"
                },
                {
                    "name": "5730555N10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cnx40",
                    "type": "synonym"
                },
                {
                    "name": "Cx40",
                    "type": "synonym"
                },
                {
                    "name": "Cxn-40",
                    "type": "synonym"
                },
                {
                    "name": "Cxni",
                    "type": "synonym"
                },
                {
                    "name": "Gja-5",
                    "type": "synonym"
                },
                {
                    "name": "Gja5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01231-1",
            "evidence": [
                {
                    "id": "0080662",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080662"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14524-1",
            "uniprot_ac": "Q14524",
            "uniprot_id": "SCN5A_HUMAN",
            "refseq_ac": "NP_001153632",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein type 5 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Sodium channel protein cardiac muscle subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel protein type V subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subunit alpha Nav1.5",
                    "type": "synonym"
                },
                {
                    "name": "cardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "hH1",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein cardiac muscle subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 5 subunit alpha isoform e",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 5 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type V, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel subunit alpha Nav1.5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCN5A",
                    "type": "recommended"
                },
                {
                    "name": "CDCD2",
                    "type": "synonym"
                },
                {
                    "name": "CMD1E",
                    "type": "synonym"
                },
                {
                    "name": "CMPD2",
                    "type": "synonym"
                },
                {
                    "name": "HB1",
                    "type": "synonym"
                },
                {
                    "name": "HB2",
                    "type": "synonym"
                },
                {
                    "name": "HBBD",
                    "type": "synonym"
                },
                {
                    "name": "HH1",
                    "type": "synonym"
                },
                {
                    "name": "ICCD",
                    "type": "synonym"
                },
                {
                    "name": "IVF",
                    "type": "synonym"
                },
                {
                    "name": "LQT3",
                    "type": "synonym"
                },
                {
                    "name": "Nav1.5",
                    "type": "synonym"
                },
                {
                    "name": "PFHB1",
                    "type": "synonym"
                },
                {
                    "name": "SCN5A",
                    "type": "synonym"
                },
                {
                    "name": "SSS1",
                    "type": "synonym"
                },
                {
                    "name": "VF1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14524-1",
            "evidence": [
                {
                    "id": "108770",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/108770"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36382-1",
            "uniprot_ac": "P36382",
            "uniprot_id": "CXA5_HUMAN",
            "refseq_ac": "NP_005257",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gap junction alpha-5 protein",
                    "type": "recommended"
                },
                {
                    "name": "Connexin-40",
                    "type": "synonym"
                },
                {
                    "name": "Cx40",
                    "type": "synonym"
                },
                {
                    "name": "connexin 40",
                    "type": "synonym"
                },
                {
                    "name": "gap junction alpha-5 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction protein alpha 5 40kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GJA5",
                    "type": "recommended"
                },
                {
                    "name": "ATFB11",
                    "type": "synonym"
                },
                {
                    "name": "CX40",
                    "type": "synonym"
                },
                {
                    "name": "GJA5",
                    "type": "synonym"
                }
            ],
            "record_id": "P36382-1",
            "evidence": [
                {
                    "id": "108770",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/108770"
                },
                {
                    "id": "0080662",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080662"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28234-1",
            "uniprot_ac": "P28234",
            "uniprot_id": "CXA5_RAT",
            "refseq_ac": "NP_062153",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gap junction alpha-5 protein",
                    "type": "recommended"
                },
                {
                    "name": "Connexin-40",
                    "type": "synonym"
                },
                {
                    "name": "Cx40",
                    "type": "synonym"
                },
                {
                    "name": "connexin 40",
                    "type": "synonym"
                },
                {
                    "name": "connexin i",
                    "type": "synonym"
                },
                {
                    "name": "gap junction alpha-5 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction membrane channel protein alpha 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gja5",
                    "type": "recommended"
                },
                {
                    "name": "Cx40",
                    "type": "synonym"
                },
                {
                    "name": "Cxn-40",
                    "type": "synonym"
                },
                {
                    "name": "Cxni",
                    "type": "synonym"
                },
                {
                    "name": "Gja5",
                    "type": "synonym"
                }
            ],
            "record_id": "P28234-1",
            "evidence": [
                {
                    "id": "0080662",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080662"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080662"
}