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        "date": "2001",
        "authors": "Sergi C, Penzel R, Uhl J, Zoubaa S, Dietrich H, Decker N, Rieger P, Kopitz J, Otto HF, Kiessling M, Cantz M",
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        "title": "Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression.",
        "journal": "Human mutation",
        "date": "2004",
        "authors": "Pattison S, Pankarican M, Rupar CA, Graham FL, Igdoura SA",
        "reference": {
            "type": "PubMed",
            "id": "14695530",
            "url": "https://pubmed.ncbi.nlm.nih.gov/14695530"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "P10619-1",
                "protein_name": "Lysosomal protective protein",
                "gene_name": "CTSA",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P16278-1",
                "protein_name": "Beta-galactosidase",
                "gene_name": "GLB1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q99519-1",
                "protein_name": "Sialidase-1",
                "gene_name": "NEU1",
                "tax_name": "Human"
            }
        ],
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            {
                "name": "Homo sapiens",
                "taxid": 9606,
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                    {
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                        "id": "P10619",
                        "url": "https://www.uniprot.org/uniprotkb/P10619"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
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            {
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                    },
                    {
                        "id": "rs104893980",
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                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104893980"
                    },
                    {
                        "id": "rs104893980",
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                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs104893980#frequency_tab"
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                    {
                        "id": "rs104893980",
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                "end_pos": 225,
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                "sequence_mut": "P",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "6",
                "chr_pos": "31860563",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R225",
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                                "id": "MONDO:0009738",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
                                "name": "sialidosis type 2",
                                "description": "A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations."
                            },
                            {
                                "id": "MONDO:0009738",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
                                "name": "sialidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009738",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
                                "name": "NEU1 sialidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009738",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
                                "name": "dysmorphic sialidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009738",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
                                "name": "dysmorphic sialidosis with renal involvement",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009738",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
                                "name": "infantile dysmorphic sialidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009738",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
                                "name": "mucolipidosis I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009738",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
                                "name": "nephrosialidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009738",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
                                "name": "sialidosis caused by mutation in NEU1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009738",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
                                "name": "sialidosis type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009738",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
                                "name": "sialidosis, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009738",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
                                "name": "sialidosis, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009738",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009738",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009738",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
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                            },
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                                "id": "MONDO:0009738",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
                                "name": "sialidosis, type II",
                                "description": ""
                            },
                            {
                                "id": "MIM:256550",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/256550",
                                "name": "Sialidosis",
                                "description": "Sialidosis"
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                                "id": "3343",
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                                "id": "MONDO:0009738",
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                                "id": "MONDO:0009738",
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0009738",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
                                "name": "sialidosis, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009738",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
                                "name": "sialidosis type 2",
                                "description": "A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations."
                            },
                            {
                                "id": "MONDO:0009738",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
                                "name": "sialidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009738",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
                                "name": "NEU1 sialidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009738",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
                                "name": "dysmorphic sialidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009738",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
                                "name": "dysmorphic sialidosis with renal involvement",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009738",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
                                "name": "infantile dysmorphic sialidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009738",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
                                "name": "mucolipidosis I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009738",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
                                "name": "nephrosialidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009738",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
                                "name": "sialidosis caused by mutation in NEU1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009738",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
                                "name": "sialidosis type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009738",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009738",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
                                "name": "sialidosis, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009738",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
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                            },
                            {
                                "id": "MONDO:0009738",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
                                "name": "NEU 1 deficiency",
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                            },
                            {
                                "id": "MONDO:0009738",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
                                "name": "mucolipidosis type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009738",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009738",
                                "name": "sialidosis, type II",
                                "description": ""
                            },
                            {
                                "id": "MIM:256550",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/256550",
                                "name": "Sialidosis",
                                "description": "Sialidosis"
                            }
                        ],
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                        "evidence": [
                            {
                                "id": "3343",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3343"
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    {
        "title": "Molecular pathology of galactosialidosis in a patient affected with two new frameshift mutations in the cathepsin A/protective protein gene.",
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        "authors": "Richard C, Tranchemontagne J, Elsliger M A, Mitchell G A, Potier M, Pshezhetsky A V",
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                "sequence_mut": "null",
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                            },
                            {
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                            },
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                            },
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                            },
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        "title": "Insertional polymorphisms of full-length endogenous retroviruses in humans.",
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