[
    {
        "title": "The African origin of the common mutation in African American patients with glycogen-storage disease type II.",
        "journal": "American journal of human genetics",
        "date": "1998-04",
        "authors": "Becker J A, Vlach J, Raben N, Nagaraju K, Adams E M, Hermans M M, Reuser A J, Brooks S S, Tifft C J, Hirschhorn R, Huie M L, Nicolino M, Plotz P H",
        "reference": {
            "type": "PubMed",
            "id": "9529346",
            "url": "https://pubmed.ncbi.nlm.nih.gov/9529346"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "P10253-1",
                "protein_name": "Lysosomal alpha-glucosidase",
                "gene_name": "GAA",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "P10253",
                        "url": "https://www.uniprot.org/uniprotkb/P10253"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
                "evidence": [
                    {
                        "id": "rs121907943",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121907943"
                    },
                    {
                        "id": "rs121907943",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121907943"
                    },
                    {
                        "id": "rs121907943",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121907943"
                    },
                    {
                        "id": "rs121907943",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs121907943#frequency_tab"
                    },
                    {
                        "id": "rs121907943",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs121907943"
                    },
                    {
                        "id": "9529346",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/9529346"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 854,
                "end_pos": 854,
                "sequence_org": "R",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "17",
                "chr_pos": "80118271",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R854",
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "disease": [
                    {
                        "disease_id": "DOID:2752",
                        "recommended_name": {
                            "id": "DOID:2752",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2752",
                            "name": "glycogen storage disease II",
                            "description": "A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Generalized glycogenosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease, type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogenosis, type 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Lysosomal alpha-1,4-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Pompe's disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "acid maltase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of glucoamylase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of maltase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "glycogen storage disease type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Pompe disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease due to acid maltase deficiency, infantile onset",
                                "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal."
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "Pompe disease, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "alpha-1,4-glucosidase acid deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MIM:232300",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232300",
                                "name": "Pompe disease, infantile-onset",
                                "description": "Pompe disease, infantile-onset"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232300",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232300"
                            },
                            {
                                "id": "2752",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2752"
                            }
                        ]
                    }
                ],
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            }
        ],
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    },
    {
        "title": "Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.",
        "journal": "Biochemical and biophysical research communications",
        "date": "1998",
        "authors": "Huie ML, Tsujino S, Sklower Brooks S, Engel A, Elias E, Bonthron DT, Bessley C, Shanske S, DiMauro S, Goto YI, Hirschhorn R",
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    {
        "title": "Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effect.",
        "journal": "Human mutation",
        "date": "1998",
        "authors": "Shieh J J, Lin C Y",
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                "site_lbl": "D645",
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                            {
                                "id": "DOID:2752",
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                            {
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                            },
                            {
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                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:2752",
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        "title": "Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene.",
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        "authors": "Kroos MA, van Leenen D, Verbiest J, Reuser AJ, Hermans MM",
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        "authors": "S\u00e9mon Marie, Wolfe Kenneth H",
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