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        "title": "D-glyceric aciduria due to GLYCTK mutation: Disease or non-disease?",
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        "title": "Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics.",
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        "title": "Dominant inheritance of sialuria, an inborn error of feedback inhibition.",
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                            },
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "GNE myopathy",
                                "description": "Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps."
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "DMRV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "HIBM2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "IBM2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "Nonaka myopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "distal myopathy with rimmed vacuoles",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "distal myopathy, Nonaka type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "hereditary inclusion body myopathy type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "inclusion body myopathy autosomal recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "inclusion body myopathy type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "quadriceps-sparing myopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "NM",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "QSM",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "inclusion body myopathy 2, autosomal recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "inclusion body myopathy, autosomal recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "inclusion body myopathy, quadriceps-sparing",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "quadriceps sparing myopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "rimmed vacuole myopathy",
                                "description": ""
                            },
                            {
                                "id": "MIM:605820",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/605820",
                                "name": "Nonaka myopathy",
                                "description": "Nonaka myopathy"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0011603",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603"
                            },
                            {
                                "id": "605820",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/605820"
                            },
                            {
                                "id": "GNE",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/GNE/#!details"
                            },
                            {
                                "id": "10020",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/10020#disease"
                            },
                            {
                                "id": "0080718",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080718"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3659",
                        "recommended_name": {
                            "id": "DOID:3659",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:3659",
                            "name": "sialuria",
                            "description": "A lysosomal storage disease characterized by increased sialic acid in the urine."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0010028",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010028",
                                "name": "sialuria",
                                "description": "Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood."
                            },
                            {
                                "id": "MONDO:0010028",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010028",
                                "name": "sialuria",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010028",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010028",
                                "name": "sialuria, French type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "Salla disease",
                                "description": "Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive."
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "Salla disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "sialic acid storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "SD",
                                "description": ""
                            },
                            {
                                "id": "MIM:269921",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/269921",
                                "name": "Sialuria",
                                "description": "Sialuria"
                            },
                            {
                                "id": "MIM:604369",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/604369",
                                "name": "Salla disease",
                                "description": "Salla disease"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "269921",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/269921"
                            },
                            {
                                "id": "3659",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3659"
                            },
                            {
                                "id": "3659",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3659"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "somatic",
                    "disease"
                ],
                "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.01.000.000",
                "uniprot_canonical_ac": "Q9Y223-1"
            }
        ],
        "record_id": "pubmed.11326336",
        "abstract": "",
        "glycosylation": [],
        "mutagenesis": [],
        "phosphorylation": [],
        "glycation": [],
        "section_stats": [
            {
                "table_id": "referenced_proteins",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 1
                    }
                ],
                "sort_fields": [
                    "uniprot_canonical_ac",
                    "protein_name",
                    "gene_name",
                    "tax_name"
                ]
            },
            {
                "table_id": "referenced_glycans",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
                    },
                    {
                        "field": "total_sites",
                        "count": 0
                    },
                    {
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                        "count": 0
                    },
                    {
                        "field": "o_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycans",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "phosphorylation",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
                    },
                    {
                        "field": "total_sites",
                        "count": 0
                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_reported",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
                    },
                    {
                        "field": "total_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycans",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_reported_with_glycan",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
                    },
                    {
                        "field": "total_sites",
                        "count": 0
                    },
                    {
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                        "count": 0
                    },
                    {
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                    },
                    {
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                    {
                        "field": "n_linked_glycans",
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                    },
                    {
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                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_predicted",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
                    },
                    {
                        "field": "total_sites",
                        "count": 0
                    },
                    {
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                        "count": 0
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                    {
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                        "count": 0
                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_automatic_literature_mining",
                "table_stats": [
                    {
                        "field": "total",
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                    {
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                    {
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                    },
                    {
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                        "count": 0
                    },
                    {
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                    {
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                        "count": 0
                    }
                ],
                "sort_fields": []
            }
        ]
    },
    {
        "title": "A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees.",
        "journal": "Annals of neurology",
        "date": "2002",
        "authors": "Arai A, Tanaka K, Ikeuchi T, Igarashi S, Kobayashi H, Asaka T, Date H, Saito M, Tanaka H, Kawasaki S, Uyama E, Mizusawa H, Fukuhara N, Tsuji S",
        "reference": {
            "type": "PubMed",
            "id": "12325084",
            "url": "https://pubmed.ncbi.nlm.nih.gov/12325084"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "Q9Y223-1",
                "protein_name": "Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase",
                "gene_name": "GNE",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q9Y223",
                        "url": "https://www.uniprot.org/uniprotkb/Q9Y223"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
                "evidence": [
                    {
                        "id": "rs121908632",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908632"
                    },
                    {
                        "id": "rs121908632",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121908632"
                    },
                    {
                        "id": "rs121908632",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908632"
                    },
                    {
                        "id": "rs121908632",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs121908632"
                    },
                    {
                        "id": "11916006",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/11916006"
                    },
                    {
                        "id": "12177386",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/12177386"
                    },
                    {
                        "id": "12325084",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/12325084"
                    },
                    {
                        "id": "15136692",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/15136692"
                    },
                    {
                        "id": "16372135",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/16372135"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 572,
                "end_pos": 572,
                "sequence_org": "V",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.",
                "chr_id": "9",
                "chr_pos": "36219940",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V572",
                "disease": [
                    {
                        "disease_id": "DOID:0080718",
                        "recommended_name": {
                            "id": "DOID:0080718",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080718",
                            "name": "GNE myopathy",
                            "description": "A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0080718",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080718",
                                "name": "Distal myopathy, Nonaka type",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080718",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080718",
                                "name": "Hereditary Inclusion Body Myopathy",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080718",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080718",
                                "name": "Nonaka myopathy",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080718",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080718",
                                "name": "inclusion body myopathy 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "GNE myopathy",
                                "description": "Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps."
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "DMRV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "HIBM2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "IBM2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "Nonaka myopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "distal myopathy with rimmed vacuoles",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "distal myopathy, Nonaka type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "hereditary inclusion body myopathy type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "inclusion body myopathy autosomal recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "inclusion body myopathy type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "quadriceps-sparing myopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "NM",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "QSM",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "inclusion body myopathy 2, autosomal recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "inclusion body myopathy, autosomal recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "inclusion body myopathy, quadriceps-sparing",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "quadriceps sparing myopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "rimmed vacuole myopathy",
                                "description": ""
                            },
                            {
                                "id": "MIM:605820",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/605820",
                                "name": "Nonaka myopathy",
                                "description": "Nonaka myopathy"
                            }
                        ],
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                        "evidence": [
                            {
                                "id": "0011603",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603"
                            },
                            {
                                "id": "605820",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/605820"
                            },
                            {
                                "id": "GNE",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/GNE/#!details"
                            },
                            {
                                "id": "10020",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/10020#disease"
                            },
                            {
                                "id": "0080718",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080718"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3659",
                        "recommended_name": {
                            "id": "DOID:3659",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:3659",
                            "name": "sialuria",
                            "description": "A lysosomal storage disease characterized by increased sialic acid in the urine."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0010028",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010028",
                                "name": "sialuria",
                                "description": "Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood."
                            },
                            {
                                "id": "MONDO:0010028",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010028",
                                "name": "sialuria",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010028",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010028",
                                "name": "sialuria, French type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "Salla disease",
                                "description": "Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive."
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "Salla disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "sialic acid storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "SD",
                                "description": ""
                            },
                            {
                                "id": "MIM:269921",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/269921",
                                "name": "Sialuria",
                                "description": "Sialuria"
                            },
                            {
                                "id": "MIM:604369",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/604369",
                                "name": "Salla disease",
                                "description": "Salla disease"
                            }
                        ],
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                            {
                                "id": "269921",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/269921"
                            },
                            {
                                "id": "3659",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3659"
                            },
                            {
                                "id": "3659",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3659"
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        "title": "Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737).",
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        "date": "2002",
        "authors": "Darvish D, Vahedifar P, Huo Y",
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        "title": "Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.",
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        "title": "GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.",
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                "gene_name": "GNE",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q9Y223",
                        "url": "https://www.uniprot.org/uniprotkb/Q9Y223"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
                "evidence": [
                    {
                        "id": "rs779694939",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779694939"
                    },
                    {
                        "id": "rs779694939",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779694939"
                    },
                    {
                        "id": "rs779694939",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs779694939#frequency_tab"
                    },
                    {
                        "id": "rs779694939",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs779694939"
                    },
                    {
                        "id": "12473769",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/12473769"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 216,
                "end_pos": 216,
                "sequence_org": "V",
                "sequence_mut": "A",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.",
                "chr_id": "9",
                "chr_pos": "36236954",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V216",
                "disease": [
                    {
                        "disease_id": "DOID:0080718",
                        "recommended_name": {
                            "id": "DOID:0080718",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080718",
                            "name": "GNE myopathy",
                            "description": "A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0080718",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080718",
                                "name": "Distal myopathy, Nonaka type",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080718",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080718",
                                "name": "Hereditary Inclusion Body Myopathy",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080718",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080718",
                                "name": "Nonaka myopathy",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080718",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080718",
                                "name": "inclusion body myopathy 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "GNE myopathy",
                                "description": "Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps."
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "DMRV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "HIBM2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "IBM2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "Nonaka myopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "distal myopathy with rimmed vacuoles",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "distal myopathy, Nonaka type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "hereditary inclusion body myopathy type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "inclusion body myopathy autosomal recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "inclusion body myopathy type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "quadriceps-sparing myopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "NM",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "QSM",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "inclusion body myopathy 2, autosomal recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "inclusion body myopathy, autosomal recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "inclusion body myopathy, quadriceps-sparing",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "quadriceps sparing myopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "rimmed vacuole myopathy",
                                "description": ""
                            },
                            {
                                "id": "MIM:605820",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/605820",
                                "name": "Nonaka myopathy",
                                "description": "Nonaka myopathy"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0011603",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603"
                            },
                            {
                                "id": "605820",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/605820"
                            },
                            {
                                "id": "GNE",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/GNE/#!details"
                            },
                            {
                                "id": "10020",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/10020#disease"
                            },
                            {
                                "id": "0080718",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080718"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3659",
                        "recommended_name": {
                            "id": "DOID:3659",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:3659",
                            "name": "sialuria",
                            "description": "A lysosomal storage disease characterized by increased sialic acid in the urine."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0010028",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010028",
                                "name": "sialuria",
                                "description": "Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood."
                            },
                            {
                                "id": "MONDO:0010028",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010028",
                                "name": "sialuria",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010028",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010028",
                                "name": "sialuria, French type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "Salla disease",
                                "description": "Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive."
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "Salla disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "sialic acid storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "SD",
                                "description": ""
                            },
                            {
                                "id": "MIM:269921",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/269921",
                                "name": "Sialuria",
                                "description": "Sialuria"
                            },
                            {
                                "id": "MIM:604369",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/604369",
                                "name": "Salla disease",
                                "description": "Salla disease"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "269921",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/269921"
                            },
                            {
                                "id": "3659",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3659"
                            },
                            {
                                "id": "3659",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3659"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "filter_code": "000000000000000000010.00000000000000.000000000001000000.00001.10.000.000",
                "uniprot_canonical_ac": "Q9Y223-1"
            },
            {
                "evidence": [
                    {
                        "id": "Q9Y223",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y223"
                    },
                    {
                        "id": "rs62541771",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs62541771"
                    },
                    {
                        "id": "rs62541771",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs62541771"
                    },
                    {
                        "id": "rs62541771",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs62541771#frequency_tab"
                    },
                    {
                        "id": "rs62541771",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs62541771"
                    },
                    {
                        "id": "12177386",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/12177386"
                    },
                    {
                        "id": "12473769",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/12473769"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 631,
                "end_pos": 631,
                "subjects_tested": "1704",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "A",
                "sequence_mut": "V",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis).",
                "chr_id": "9",
                "chr_pos": "36218224",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "A631",
                "disease": [
                    {
                        "disease_id": "DOID:363",
                        "recommended_name": {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:363",
                            "name": "uterine cancer",
                            "description": "A female reproductive organ cancer that is located_in the uterus."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "CA - cancer of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "Tumour of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "malignant neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "malignant uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "uterus neoplasm",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:9460",
                            "DOID:5166",
                            "DOID:2021",
                            "DOID:4114"
                        ],
                        "evidence": [
                            {
                                "id": "363",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:363"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0080718",
                        "recommended_name": {
                            "id": "DOID:0080718",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080718",
                            "name": "GNE myopathy",
                            "description": "A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0080718",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080718",
                                "name": "Distal myopathy, Nonaka type",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080718",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080718",
                                "name": "Hereditary Inclusion Body Myopathy",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080718",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080718",
                                "name": "Nonaka myopathy",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080718",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080718",
                                "name": "inclusion body myopathy 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "GNE myopathy",
                                "description": "Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps."
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "DMRV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "HIBM2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "IBM2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "Nonaka myopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "distal myopathy with rimmed vacuoles",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "distal myopathy, Nonaka type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "hereditary inclusion body myopathy type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "inclusion body myopathy autosomal recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "inclusion body myopathy type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "quadriceps-sparing myopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "NM",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "QSM",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "inclusion body myopathy 2, autosomal recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "inclusion body myopathy, autosomal recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "inclusion body myopathy, quadriceps-sparing",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "quadriceps sparing myopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "rimmed vacuole myopathy",
                                "description": ""
                            },
                            {
                                "id": "MIM:605820",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/605820",
                                "name": "Nonaka myopathy",
                                "description": "Nonaka myopathy"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0011603",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603"
                            },
                            {
                                "id": "605820",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/605820"
                            },
                            {
                                "id": "GNE",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/GNE/#!details"
                            },
                            {
                                "id": "10020",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/10020#disease"
                            },
                            {
                                "id": "0080718",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080718"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3659",
                        "recommended_name": {
                            "id": "DOID:3659",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:3659",
                            "name": "sialuria",
                            "description": "A lysosomal storage disease characterized by increased sialic acid in the urine."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0010028",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010028",
                                "name": "sialuria",
                                "description": "Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood."
                            },
                            {
                                "id": "MONDO:0010028",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010028",
                                "name": "sialuria",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010028",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010028",
                                "name": "sialuria, French type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "Salla disease",
                                "description": "Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive."
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "Salla disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "sialic acid storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "SD",
                                "description": ""
                            },
                            {
                                "id": "MIM:269921",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/269921",
                                "name": "Sialuria",
                                "description": "Sialuria"
                            },
                            {
                                "id": "MIM:604369",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/604369",
                                "name": "Salla disease",
                                "description": "Salla disease"
                            }
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                                "id": "269921",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/269921"
                            },
                            {
                                "id": "3659",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3659"
                            },
                            {
                                "id": "3659",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3659"
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        "title": "Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.",
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        "date": "2003",
        "authors": "Eisenberg I, Grabov-Nardini G, Hochner H, Korner M, Sadeh M, Bertorini T, Bushby K, Castellan C, Felice K, Mendell J, Merlini L, Shilling C, Wirguin I, Argov Z, Mitrani-Rosenbaum S",
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        "title": "Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.",
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                        "count": 0
                    },
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                        "count": 0
                    },
                    {
                        "field": "o_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycans",
                        "count": 0
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                    {
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                ],
                "sort_fields": []
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        ]
    },
    {
        "title": "Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles.",
        "journal": "Journal of human genetics",
        "date": "2006",
        "authors": "Kim Byoung Joon, Ki Chang-Seok, Kim Jong-Won, Sung Duk Hyun, Choi Young-Chul, Kim Seung Hyun",
        "reference": {
            "type": "PubMed",
            "id": "16372135",
            "url": "https://pubmed.ncbi.nlm.nih.gov/16372135"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "Q9Y223-1",
                "protein_name": "Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase",
                "gene_name": "GNE",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q9Y223",
                        "url": "https://www.uniprot.org/uniprotkb/Q9Y223"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
                "evidence": [
                    {
                        "id": "rs121908632",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908632"
                    },
                    {
                        "id": "rs121908632",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121908632"
                    },
                    {
                        "id": "rs121908632",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908632"
                    },
                    {
                        "id": "rs121908632",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs121908632"
                    },
                    {
                        "id": "11916006",
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                        "url": "https://pubmed.ncbi.nlm.nih.gov/12177386"
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                        "database": "PubMed",
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                        "database": "PubMed",
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                ],
                "glycoeffect": [],
                "start_pos": 572,
                "end_pos": 572,
                "sequence_org": "V",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.",
                "chr_id": "9",
                "chr_pos": "36219940",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V572",
                "disease": [
                    {
                        "disease_id": "DOID:0080718",
                        "recommended_name": {
                            "id": "DOID:0080718",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080718",
                            "name": "GNE myopathy",
                            "description": "A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0080718",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080718",
                                "name": "Distal myopathy, Nonaka type",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080718",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080718",
                                "name": "Hereditary Inclusion Body Myopathy",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080718",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080718",
                                "name": "Nonaka myopathy",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080718",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080718",
                                "name": "inclusion body myopathy 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "GNE myopathy",
                                "description": "Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps."
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "DMRV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "HIBM2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "IBM2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "Nonaka myopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "distal myopathy with rimmed vacuoles",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "distal myopathy, Nonaka type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "hereditary inclusion body myopathy type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "inclusion body myopathy autosomal recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "inclusion body myopathy type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "quadriceps-sparing myopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "NM",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "QSM",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "inclusion body myopathy 2, autosomal recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "inclusion body myopathy, autosomal recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "inclusion body myopathy, quadriceps-sparing",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "quadriceps sparing myopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "rimmed vacuole myopathy",
                                "description": ""
                            },
                            {
                                "id": "MIM:605820",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/605820",
                                "name": "Nonaka myopathy",
                                "description": "Nonaka myopathy"
                            }
                        ],
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                        "evidence": [
                            {
                                "id": "0011603",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603"
                            },
                            {
                                "id": "605820",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/605820"
                            },
                            {
                                "id": "GNE",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/GNE/#!details"
                            },
                            {
                                "id": "10020",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/10020#disease"
                            },
                            {
                                "id": "0080718",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080718"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3659",
                        "recommended_name": {
                            "id": "DOID:3659",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:3659",
                            "name": "sialuria",
                            "description": "A lysosomal storage disease characterized by increased sialic acid in the urine."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0010028",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010028",
                                "name": "sialuria",
                                "description": "Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood."
                            },
                            {
                                "id": "MONDO:0010028",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010028",
                                "name": "sialuria",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010028",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010028",
                                "name": "sialuria, French type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "Salla disease",
                                "description": "Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive."
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "Salla disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "sialic acid storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "SD",
                                "description": ""
                            },
                            {
                                "id": "MIM:269921",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/269921",
                                "name": "Sialuria",
                                "description": "Sialuria"
                            },
                            {
                                "id": "MIM:604369",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/604369",
                                "name": "Salla disease",
                                "description": "Salla disease"
                            }
                        ],
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                        "evidence": [
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                                "id": "269921",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/269921"
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                            {
                                "id": "3659",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3659"
                            },
                            {
                                "id": "3659",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3659"
                            }
                        ]
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    },
    {
        "title": "Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy.",
        "journal": "Biochemistry",
        "date": "2006",
        "authors": "Penner J, Mantey LR, Elgavish S, Ghaderi D, Cirak S, Berger M, Krause S, Lucka L, Voit T, Mitrani-Rosenbaum S, Hinderlich S",
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    {
        "title": "Sialuria: a second case.",
        "journal": "Journal of inherited metabolic disease",
        "date": "1987",
        "authors": "Wilcken B, Don N, Greenaway R, Hammond J, Sosula L",
        "reference": {
            "type": "PubMed",
            "id": "2443758",
            "url": "https://pubmed.ncbi.nlm.nih.gov/2443758"
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                "gene_name": "GNE",
                "tax_name": "Human"
            }
        ],
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            {
                "name": "Homo sapiens",
                "taxid": 9606,
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                        "id": "Q9Y223",
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        ],
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            {
                "evidence": [
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                        "id": "rs121908621",
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                    },
                    {
                        "id": "rs121908621",
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                        "url": "https://www.ensembl.org/id/rs121908621"
                    },
                    {
                        "id": "10330343",
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                        "url": "https://pubmed.ncbi.nlm.nih.gov/10330343"
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                    {
                        "id": "2443758",
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                        "url": "https://pubmed.ncbi.nlm.nih.gov/2443758"
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                    {
                        "id": "rs121908621",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121908621"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 266,
                "end_pos": 266,
                "sequence_org": "R",
                "sequence_mut": "W",
                "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.",
                "chr_id": "9",
                "chr_pos": "36234106",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R266",
                "keywords": [
                    "ebi",
                    "somatic",
                    "disease"
                ],
                "disease": [
                    {
                        "disease_id": "DOID:3659",
                        "recommended_name": {
                            "id": "DOID:3659",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:3659",
                            "name": "sialuria",
                            "description": "A lysosomal storage disease characterized by increased sialic acid in the urine."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0010028",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010028",
                                "name": "sialuria",
                                "description": "Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood."
                            },
                            {
                                "id": "MONDO:0010028",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010028",
                                "name": "sialuria",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010028",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010028",
                                "name": "sialuria, French type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "Salla disease",
                                "description": "Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive."
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "Salla disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "sialic acid storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "SD",
                                "description": ""
                            },
                            {
                                "id": "MIM:269921",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/269921",
                                "name": "Sialuria",
                                "description": "Sialuria"
                            },
                            {
                                "id": "MIM:604369",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/604369",
                                "name": "Salla disease",
                                "description": "Salla disease"
                            }
                        ],
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                        "evidence": [
                            {
                                "id": "269921",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/269921"
                            },
                            {
                                "id": "3659",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3659"
                            },
                            {
                                "id": "3659",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3659"
                            }
                        ]
                    }
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    {
        "title": "GNE myopathy associated with congenital thrombocytopenia: a report of two siblings.",
        "journal": "Neuromuscular disorders : NMD",
        "date": "2014-12",
        "authors": "Izumi Rumiko, Niihori Tetsuya, Suzuki Naoki, Sasahara Yoji, Rikiishi Takeshi, Nishiyama Ayumi, Nishiyama Shuhei, Endo Kaoru, Kato Masaaki, Warita Hitoshi, Konno Hidehiko, Takahashi Toshiaki, Tateyama Maki, Nagashima Takeshi, Funayama Ryo, Nakayama Keiko, Kure Shigeo, Matsubara Yoichi, Aoki Yoko, Aoki Masashi",
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    {
        "title": "Mechanism and inhibition of human UDP-GlcNAc 2-epimerase, the key enzyme in sialic acid biosynthesis.",
        "journal": "Sci. Rep.",
        "date": "2016",
        "authors": "Chen Sheng-Chia, Huang Chi-Hung, Lai Shu-Jung, Yang Chia Shin, Hsiao Tzu-Hung, Lin Ching-Heng, Fu Pin-Kuei, Ko Tzu-Ping, Chen Yeh",
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                "name": "Homo sapiens",
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                "common_name": "Human",
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                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "record_id": "pubmed.26980148",
        "abstract": "",
        "glycosylation": [],
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        "phosphorylation": [],
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    {
        "title": "Identification of the metabolic defect in sialuria.",
        "journal": "The Journal of biological chemistry",
        "date": "1989",
        "authors": "Weiss P, Tietze F, Gahl WA, Seppala R, Ashwell G",
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            "type": "PubMed",
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                    }
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                "glycoeffect": [],
                "start_pos": 266,
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                "sequence_org": "R",
                "sequence_mut": "Q",
                "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.",
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                    {
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                            "id": "DOID:0080718",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080718",
                            "name": "GNE myopathy",
                            "description": "A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis."
                        },
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                            {
                                "id": "DOID:0080718",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080718",
                                "name": "Distal myopathy, Nonaka type",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080718",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080718",
                                "name": "Hereditary Inclusion Body Myopathy",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080718",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080718",
                                "name": "Nonaka myopathy",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080718",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080718",
                                "name": "inclusion body myopathy 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "GNE myopathy",
                                "description": "Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps."
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "DMRV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "HIBM2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "IBM2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "Nonaka myopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "distal myopathy with rimmed vacuoles",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "distal myopathy, Nonaka type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "hereditary inclusion body myopathy type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "inclusion body myopathy autosomal recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "inclusion body myopathy type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "quadriceps-sparing myopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "NM",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "QSM",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "inclusion body myopathy 2, autosomal recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "inclusion body myopathy, autosomal recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "inclusion body myopathy, quadriceps-sparing",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "quadriceps sparing myopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011603",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603",
                                "name": "rimmed vacuole myopathy",
                                "description": ""
                            },
                            {
                                "id": "MIM:605820",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/605820",
                                "name": "Nonaka myopathy",
                                "description": "Nonaka myopathy"
                            }
                        ],
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                        "evidence": [
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                                "id": "0011603",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011603"
                            },
                            {
                                "id": "605820",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/605820"
                            },
                            {
                                "id": "GNE",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/GNE/#!details"
                            },
                            {
                                "id": "10020",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/10020#disease"
                            },
                            {
                                "id": "0080718",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080718"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3659",
                        "recommended_name": {
                            "id": "DOID:3659",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:3659",
                            "name": "sialuria",
                            "description": "A lysosomal storage disease characterized by increased sialic acid in the urine."
                        },
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                            {
                                "id": "MONDO:0010028",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010028",
                                "name": "sialuria",
                                "description": "Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood."
                            },
                            {
                                "id": "MONDO:0010028",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010028",
                                "name": "sialuria",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010028",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010028",
                                "name": "sialuria, French type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "Salla disease",
                                "description": "Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive."
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "Salla disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "sialic acid storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "SD",
                                "description": ""
                            },
                            {
                                "id": "MIM:269921",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/269921",
                                "name": "Sialuria",
                                "description": "Sialuria"
                            },
                            {
                                "id": "MIM:604369",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/604369",
                                "name": "Salla disease",
                                "description": "Salla disease"
                            }
                        ],
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                                "id": "269921",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/269921"
                            },
                            {
                                "id": "3659",
                                "database": "AGR",
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                            },
                            {
                                "id": "3659",
                                "database": "AGR",
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    {
        "title": "Novel GNE Gene Variants Associated with Severe Congenital Thrombocytopenia and Platelet Sialylation Defect.",
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        "date": "2022-07",
        "authors": "Zieger Barbara, Boeckelmann Doris, Anani Waseem, Falet Herv\u00e9, Zhu Jieqing, Glonnegger Hannah, Full Hermann, Andresen Felicia, Erlacher Miriam, Lausch Ekkehart, Fels Salome, Strahm Brigitte, Lang Peter, Hoffmeister Karin M",
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        "title": "Clinical and biochemical studies in an American child with sialuria.",
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        "date": "1993-02",
        "authors": "Krasnewich D M, Tietze F, Krause W, Pretzlaff R, Wenger D A, Diwadkar V, Gahl W A",
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                ],
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                "start_pos": 263,
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                "sequence_org": "R",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.",
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                "ref_nt": "A",
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                "minor_allelic_frequency": "",
                "site_lbl": "R263",
                "disease": [
                    {
                        "disease_id": "DOID:3659",
                        "recommended_name": {
                            "id": "DOID:3659",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:3659",
                            "name": "sialuria",
                            "description": "A lysosomal storage disease characterized by increased sialic acid in the urine."
                        },
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                            {
                                "id": "MONDO:0010028",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010028",
                                "name": "sialuria",
                                "description": "Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood."
                            },
                            {
                                "id": "MONDO:0010028",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010028",
                                "name": "sialuria",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010028",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010028",
                                "name": "sialuria, French type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "Salla disease",
                                "description": "Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive."
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "Salla disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "sialic acid storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011449",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011449",
                                "name": "SD",
                                "description": ""
                            },
                            {
                                "id": "MIM:269921",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/269921",
                                "name": "Sialuria",
                                "description": "Sialuria"
                            },
                            {
                                "id": "MIM:604369",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/604369",
                                "name": "Salla disease",
                                "description": "Salla disease"
                            }
                        ],
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                        "evidence": [
                            {
                                "id": "269921",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/269921"
                            },
                            {
                                "id": "3659",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3659"
                            },
                            {
                                "id": "3659",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3659"
                            }
                        ]
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                    "germline",
                    "disease"
                ],
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    {
        "title": "Identification, genomic organization, chromosomal mapping and mutation analysis of the human INV gene, the ortholog of a murine gene implicated in left-right axis development and biliary atresia.",
        "journal": "Hum. Genet.",
        "date": "2002",
        "authors": "Schon P, Tsuchiya K, Lenoir D, Mochizuki T, Guichard C, Takai S, Maiti AK, Nihei H, Weil J, Yokoyama T, Bouvagnet P",
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            "type": "PubMed",
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                "protein_name": "Inversin",
                "gene_name": "INVS",
                "tax_name": "Human"
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        ],
        "species": [
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                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
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                        "database": "UniProtKB",
                        "id": "Q9Y283",
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                ],
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        ],
        "record_id": "pubmed.11935322",
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]