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    {
        "title": "The making of a slicer: activation of human Argonaute-1.",
        "journal": "Cell reports",
        "date": "2013",
        "authors": "Faehnle CR, Elkayam E, Haase AD, Hannon GJ, Joshua-Tor L",
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            {
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                "comment": "Impairs RNA cleavage.",
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                        "database": "UniProtKB",
                        "id": "Q9UKV8",
                        "url": "https://www.uniprot.org/uniprotkb/Q9UKV8"
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                    {
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                        "database": "PubMed",
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    {
        "title": "Eukaryote-specific insertion elements control human ARGONAUTE slicer activity.",
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        "date": "2013",
        "authors": "Nakanishi K, Ascano M, Gogakos T, Ishibe-Murakami S, Serganov AA, Briskin D, Morozov P, Tuschl T, Patel DJ",
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        ],
        "mutagenesis": [
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                "sequence_mut": "S",
                "comment": "Confers modest RNA cleavage activity; when associated with Q-675 and H-805.",
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    {
        "title": "The autocrine motility factor receptor gene encodes a novel type of seven transmembrane protein.",
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        "authors": "Shimizu K, Tani M, Watanabe H, Nagamachi Y, Niinaka Y, Shiroishi T, Ohwada S, Raz A, Yokota J",
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            {
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                ],
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            }
        ],
        "record_id": "pubmed.10456327",
        "abstract": "",
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        "phosphorylation": [],
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        "section_stats": [
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    {
        "title": "A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.",
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        "authors": "De Praeter CM, Gerwig GJ, Bause E, Nuytinck LK, Vliegenthart JF, Breuer W, Kamerling JP, Espeel MF, Martin JJ, De Paepe AM, Chan NW, Dacremont GA, Van Coster RN",
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                "uniprot_canonical_ac": "Q04323-1",
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                "tax_name": "Human"
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                "uniprot_canonical_ac": "Q96IV0-1",
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                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P55072-1",
                "protein_name": "Transitional endoplasmic reticulum ATPase",
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                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q14697-1",
                "protein_name": "Neutral alpha-glucosidase AB",
                "gene_name": "GANAB",
                "tax_name": "Human"
            },
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                "uniprot_canonical_ac": "P62979-1",
                "protein_name": "Ubiquitin-ribosomal protein eS31 fusion protein",
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            {
                "uniprot_canonical_ac": "P62987-1",
                "protein_name": "Ubiquitin-ribosomal protein eL40 fusion protein",
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            {
                "uniprot_canonical_ac": "P14314-1",
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            },
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                "uniprot_canonical_ac": "Q8NFI3-1",
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        ],
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                ],
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        ],
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                        "id": "10788335",
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                ],
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                                "id": "DOID:0070254",
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                            },
                            {
                                "id": "DOID:0070254",
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                                "id": "MONDO:0011629",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "MOGS-congenital disorder of glycosylation",
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                            },
                            {
                                "id": "MONDO:0011629",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "CDG-IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "CDG2B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "MOGS-CDG",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "MOGS-congenital disorder of glycosylation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "carbohydrate deficient glycoprotein syndrome type IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "congenital disorder of glycosylation type 2b",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "congenital disorder of glycosylation type IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "glucosidase 1 deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "CDG 2B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "GCS1-CDG",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "MOGS-CDG (CDG-IIb)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "congenital disorder of glycosylation, type IIb",
                                "description": ""
                            },
                            {
                                "id": "MIM:606056",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/606056",
                                "name": "Type IIb congenital disorder of glycosylation",
                                "description": "Type IIb congenital disorder of glycosylation"
                            }
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                                "id": "0011629",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629"
                            },
                            {
                                "id": "606056",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/606056"
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                                "id": "MOGS",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/MOGS/#!details"
                            },
                            {
                                "id": "7841",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/7841#disease"
                            },
                            {
                                "id": "0070254",
                                "database": "AGR",
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                    {
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                "sequence_mut": "L",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "2",
                "chr_pos": "74461835",
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                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "F652",
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                        "recommended_name": {
                            "id": "DOID:0070254",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0070254",
                            "name": "congenital disorder of glycosylation type IIb",
                            "description": "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0070254",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0070254",
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                                "description": ""
                            },
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                                "id": "DOID:0070254",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0070254",
                                "name": "CDG2B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0070254",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0070254",
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                            },
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                                "id": "DOID:0070254",
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                                "url": "https://disease-ontology.org/term/DOID:0070254",
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                            },
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                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "MOGS-congenital disorder of glycosylation",
                                "description": "MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1)."
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                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "CDG syndrome type IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "CDG-IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "CDG2B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
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                            },
                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "congenital disorder of glycosylation type IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "glucosidase 1 deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "GCS1-CDG",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "MOGS-CDG (CDG-IIb)",
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                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "congenital disorder of glycosylation, type IIb",
                                "description": ""
                            },
                            {
                                "id": "MIM:606056",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/606056",
                                "name": "Type IIb congenital disorder of glycosylation",
                                "description": "Type IIb congenital disorder of glycosylation"
                            }
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                                "id": "606056",
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                                "url": "https://www.omim.org/entry/606056"
                            },
                            {
                                "id": "MOGS",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/MOGS/#!details"
                            },
                            {
                                "id": "7841",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/7841#disease"
                            },
                            {
                                "id": "0070254",
                                "database": "AGR",
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                            }
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    {
        "title": "The heterodimeric structure of glucosidase II is required for its activity, solubility, and localization in vivo.",
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        "date": "2000",
        "authors": "Pelletier MF, Marcil A, Sevigny G, Jakob CA, Tessier DC, Chevet E, Menard R, Bergeron JJ, Thomas DY",
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                "uniprot_canonical_ac": "Q14697-1",
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                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            }
        ]
    }
]
