{
    "disease_id": "DOID:0070595",
    "recommended_name": {
        "id": "DOID:0070595",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070595",
        "name": "X-linked spermatogenic failure 4",
        "description": "A spermatogenic failure characterized by azoospermia or oligoasthenoteratozoospermia that has_material_basis_in hemizygous mutation in the GCNA gene on chromosome Xq13.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070595",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070595",
            "name": "SPGFX4",
            "description": ""
        },
        {
            "id": "MONDO:0024773",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024773",
            "name": "spermatogenic failure, X-linked, 4",
            "description": ""
        },
        {
            "id": "MONDO:0024773",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024773",
            "name": "SPGFX4",
            "description": ""
        },
        {
            "id": "MONDO:0024773",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024773",
            "name": "spermatogenic failure, X-linked, 4",
            "description": ""
        },
        {
            "id": "MIM:301077",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301077",
            "name": "Spermatogenic failure, X-linked, 4",
            "description": "Spermatogenic failure, X-linked, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070595"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070595",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070595",
            "categories": []
        },
        {
            "id": "MONDO:0024773",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024773",
            "categories": []
        },
        {
            "id": "MIM:301077",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301077",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IWG9-1",
            "uniprot_ac": "A0A0R4IWG9",
            "uniprot_id": "GCNA_DANRE",
            "refseq_ac": "XP_021336691",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Germ cell nuclear acidic protein",
                    "type": "recommended"
                },
                {
                    "name": "Acidic repeat-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "Germ cell nuclear acidic peptidase",
                    "type": "synonym"
                },
                {
                    "name": "germ cell nuclear acidic protein isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gcna",
                    "type": "recommended"
                },
                {
                    "name": "acrc",
                    "type": "synonym"
                },
                {
                    "name": "gcna",
                    "type": "synonym"
                },
                {
                    "name": "zgc:113346",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IWG9-1",
            "evidence": [
                {
                    "id": "0070595",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070595"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96QF7-1",
            "uniprot_ac": "Q96QF7",
            "uniprot_id": "GCNA_HUMAN",
            "refseq_ac": "NP_443189",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Germ cell nuclear acidic protein",
                    "type": "recommended"
                },
                {
                    "name": "Acidic repeat-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "Germ cell nuclear acidic peptidase",
                    "type": "synonym"
                },
                {
                    "name": "Germ cell nuclear antigen",
                    "type": "synonym"
                },
                {
                    "name": "acidic repeat containing",
                    "type": "synonym"
                },
                {
                    "name": "acidic repeat-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "germ cell nuclear acidic protein",
                    "type": "synonym"
                },
                {
                    "name": "germ cell nuclear antigen",
                    "type": "synonym"
                },
                {
                    "name": "putative nuclear protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GCNA",
                    "type": "recommended"
                },
                {
                    "name": "ACRC",
                    "type": "synonym"
                },
                {
                    "name": "GCNA",
                    "type": "synonym"
                },
                {
                    "name": "NAAR1",
                    "type": "synonym"
                },
                {
                    "name": "SPGFX4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96QF7-1",
            "evidence": [
                {
                    "id": "301077",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301077"
                },
                {
                    "id": "0070595",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070595"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IRV6-1",
            "uniprot_ac": "Q8IRV6",
            "uniprot_id": "Q8IRV6_DROME",
            "refseq_ac": "NP_726827",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "SprT-like domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG2694-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EG:95B7.10",
                    "type": "recommended"
                },
                {
                    "name": "CG2694",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2694",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2694",
                    "type": "synonym"
                },
                {
                    "name": "EG:100G10.8",
                    "type": "synonym"
                },
                {
                    "name": "EG:95B7.10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IRV6-1",
            "evidence": [
                {
                    "id": "0070595",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070595"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VM89-1",
            "uniprot_ac": "Q9VM89",
            "uniprot_id": "Q9VM89_DROME",
            "refseq_ac": "NP_609071",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "SprT-like domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG11322-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG11322",
                    "type": "recommended"
                },
                {
                    "name": "CG11322",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11322",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11322",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VM89-1",
            "evidence": [
                {
                    "id": "0070595",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070595"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KW09-1",
            "uniprot_ac": "Q7KW09",
            "uniprot_id": "GCNA_DROME",
            "refseq_ac": "NP_001284793",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Germ cell nuclear acidic protein",
                    "type": "recommended"
                },
                {
                    "name": "CG14814-PD",
                    "type": "synonym"
                },
                {
                    "name": "Gcna-PD",
                    "type": "synonym"
                },
                {
                    "name": "Germ cell nuclear acidic peptidase",
                    "type": "synonym"
                },
                {
                    "name": "germ cell nuclear acidic peptidase, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "germ cell nuclear acidic peptidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gcna",
                    "type": "recommended"
                },
                {
                    "name": "CG14814",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14814",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14814",
                    "type": "synonym"
                },
                {
                    "name": "EG:63B12.6",
                    "type": "synonym"
                },
                {
                    "name": "Gcna",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KW09-1",
            "evidence": [
                {
                    "id": "0070595",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070595"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070595"
}
