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    {
        "title": "High-grade cervical lesions diagnosed by JAM3/PAX1 methylation in high-risk human papillomavirus-infected patients.",
        "journal": "Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences",
        "date": "2023-12-28",
        "authors": "Li Xiang, He Sili, Zhao Xingping, Sun Dan, Wu Si, Xu Dabao, Li Yingjia",
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        "title": "Relationship between p16/ki67 immunoscores and PAX1/ZNF582 methylation status in precancerous and cancerous cervical lesions in high-risk HPV-positive women.",
        "journal": "BMC cancer",
        "date": "2024-09-20",
        "authors": "Luo Haijun, Lian Yixiang, Tao Hong, Zhao Yan, Wang Zhigan, Zhou Jing, Zhang Zirong, Jiang Shali",
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    {
        "title": "PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.",
        "journal": "Journal of medical genetics",
        "date": "1996",
        "authors": "Hol FA, Geurds MP, Chatkupt S, Shugart YY, Balling R, Schrander-Stumpel CT, Johnson WG, Hamel BC, Mariman EC",
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    {
        "title": "DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation.",
        "journal": "American journal of human genetics",
        "date": "2012",
        "authors": "Jones MA, Ng BG, Bhide S, Chin E, Rhodenizer D, He P, Losfeld ME, He M, Raymond K, Berry G, Freeze HH, Hegde MR",
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            }
        ],
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            {
                "name": "Homo sapiens",
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                ],
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                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
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        ],
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                    {
                        "id": "rs387906831",
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                    },
                    {
                        "id": "22305527",
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                    }
                ],
                "glycoeffect": [],
                "start_pos": 217,
                "end_pos": 217,
                "sequence_org": "G",
                "sequence_mut": "D",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, llo pathway.",
                "chr_id": "1",
                "chr_pos": "20654660",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "G217",
                "disease": [
                    {
                        "disease_id": "DOID:0080569",
                        "recommended_name": {
                            "id": "DOID:0080569",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080569",
                            "name": "congenital disorder of glycosylation Ir",
                            "description": "A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0080569",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080569",
                                "name": "congenital disorder of glycosylation 1r",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013789",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013789",
                                "name": "DDOST-congenital disorder of glycosylation",
                                "description": "DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1)."
                            },
                            {
                                "id": "MONDO:0013789",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013789",
                                "name": "CDG syndrome type Ir",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013789",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013789",
                                "name": "CDG-Ir",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013789",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013789",
                                "name": "CDG1R",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013789",
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