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        "authors": "Schollen E, Dorland L, de Koning TJ, Van Diggelen OP, Huijmans JG, Marquardt T, Babovic-Vuksanovic D, Patterson M, Imtiaz F, Winchester B, Adamowicz M, Pronicka E, Freeze H, Matthijs G",
        "reference": {
            "type": "PubMed",
            "id": "10980531",
            "url": "https://pubmed.ncbi.nlm.nih.gov/10980531"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "P34949-1",
                "protein_name": "Mannose-6-phosphate isomerase",
                "gene_name": "MPI",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "O15305-1",
                "protein_name": "Phosphomannomutase 2",
                "gene_name": "PMM2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q92871-1",
                "protein_name": "Phosphomannomutase 1",
                "gene_name": "PMM1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q96IJ6-1",
                "protein_name": "Mannose-1-phosphate guanylyltransferase regulatory subunit alpha",
                "gene_name": "GMPPA",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9Y5P6-1",
                "protein_name": "Mannose-1-phosphate guanylyltransferase catalytic subunit beta",
                "gene_name": "GMPPB",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P19367-1",
                "protein_name": "Hexokinase-1",
                "gene_name": "HK1",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
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                        "url": "https://www.uniprot.org/uniprotkb/P34949"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
                "evidence": [
                    {
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                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P34949"
                    },
                    {
                        "id": "rs104894489",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104894489"
                    },
                    {
                        "id": "rs104894489",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104894489"
                    },
                    {
                        "id": "rs104894489",
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                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs104894489#frequency_tab"
                    },
                    {
                        "id": "rs104894489",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs104894489"
                    },
                    {
                        "id": "10980531",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/10980531"
                    },
                    {
                        "id": "9525984",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/9525984"
                    },
                    {
                        "id": "rs104894489",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs104894489"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 219,
                "end_pos": 219,
                "subjects_tested": "3601",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "R",
                "sequence_mut": "Q",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis).",
                "chr_id": "15",
                "chr_pos": "74893306",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "R219",
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                    {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, advanced, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, somatic",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                                "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectum cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumor",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectum neoplasm",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
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                                "name": "malignant neoplasm of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "CRC",
                                "description": ""
                            },
                            {
                                "id": "MIM:114500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/114500",
                                "name": "Colorectal cancer",
                                "description": "Colorectal cancer"
                            }
                        ],
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                        "evidence": [
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                        ]
                    },
                    {
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080554",
                            "name": "congenital disorder of glycosylation Ib",
                            "description": "A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24."
                        },
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                                "id": "DOID:0080554",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080554",
                                "name": "congenital disorder of glycosylation 1b",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "MPI-congenital disorder of glycosylation",
                                "description": "MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1)."
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "CDG syndrome type IB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "CDG-Ib",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "CDG1B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "MPI-CDG",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "carbohydrate deficient glycoprotein syndrome type IB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "congenital disorder of glycosylation type 1b",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "congenital disorder of glycosylation type IB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "phosphomannose isomerase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "CDG 1B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "CDG gastrointestinal type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "MPI-CDG (CDG-Ib)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "SLSJ syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "Saguenay Lac Saint Jean syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "carbohydrate-deficient glycoprotein syndrome type 1B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "congenital disorder of glycosylation, type IB",
                                "description": ""
                            },
                            {
                                "id": "MIM:602579",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/602579",
                                "name": "Congenital disorder of glycosylation 1B",
                                "description": "Congenital disorder of glycosylation 1B"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0011257",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257"
                            },
                            {
                                "id": "602579",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/602579"
                            },
                            {
                                "id": "MPI",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/MPI/#!details"
                            },
                            {
                                "id": "4351",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/4351#disease"
                            },
                            {
                                "id": "0080554",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080554"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ],
                "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000",
                "uniprot_canonical_ac": "P34949-1"
            },
            {
                "evidence": [
                    {
                        "id": "rs786204593",
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                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs786204593"
                    },
                    {
                        "id": "10980531",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/10980531"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 56,
                "end_pos": 56,
                "sequence_org": "R",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.",
                "chr_id": "15",
                "chr_pos": "74891400",
                "ref_nt": "p",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R56",
                "disease": [
                    {
                        "disease_id": "DOID:0080554",
                        "recommended_name": {
                            "id": "DOID:0080554",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080554",
                            "name": "congenital disorder of glycosylation Ib",
                            "description": "A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0080554",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080554",
                                "name": "congenital disorder of glycosylation 1b",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "MPI-congenital disorder of glycosylation",
                                "description": "MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1)."
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                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "LNCR4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "LNCR5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MIM:211980",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:4765"
                        ],
                        "evidence": [
                            {
                                "id": "1324",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1324"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0080554",
                        "recommended_name": {
                            "id": "DOID:0080554",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080554",
                            "name": "congenital disorder of glycosylation Ib",
                            "description": "A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24."
                        },
                        "synonyms": [
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                                "id": "DOID:0080554",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080554",
                                "name": "congenital disorder of glycosylation 1b",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "MPI-congenital disorder of glycosylation",
                                "description": "MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1)."
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "CDG syndrome type IB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "CDG1B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "MPI-CDG",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "carbohydrate deficient glycoprotein syndrome type IB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "congenital disorder of glycosylation type 1b",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "congenital disorder of glycosylation type IB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "phosphomannose isomerase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "CDG 1B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "CDG gastrointestinal type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "MPI-CDG (CDG-Ib)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "Saguenay Lac Saint Jean syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "carbohydrate-deficient glycoprotein syndrome type 1B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "congenital disorder of glycosylation, type IB",
                                "description": ""
                            },
                            {
                                "id": "MIM:602579",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/602579",
                                "name": "Congenital disorder of glycosylation 1B",
                                "description": "Congenital disorder of glycosylation 1B"
                            }
                        ],
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                        "evidence": [
                            {
                                "id": "0011257",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257"
                            },
                            {
                                "id": "602579",
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                                "url": "https://www.omim.org/entry/602579"
                            },
                            {
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                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/MPI/#!details"
                            },
                            {
                                "id": "4351",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/4351#disease"
                            },
                            {
                                "id": "0080554",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080554"
                            }
                        ]
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                ],
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        "title": "Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies.",
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        "authors": "Marquardt T, Denecke J",
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                "table_id": "glycosylation_reported",
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                        "field": "total_sites",
                        "count": 0
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                    {
                        "field": "n_linked_sites",
                        "count": 0
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                    {
                        "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
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                    {
                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_reported_with_glycan",
                "table_stats": [
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                        "field": "total",
                        "count": 0
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                    {
                        "field": "total_sites",
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                    {
                        "field": "n_linked_sites",
                        "count": 0
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                    {
                        "field": "o_linked_sites",
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                    {
                        "field": "n_linked_glycan_sites",
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                        "field": "o_linked_glycan_sites",
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                    {
                        "field": "n_linked_glycans",
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                    {
                        "field": "o_linked_glycans",
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                "table_id": "glycosylation_predicted",
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                        "field": "o_linked_sites",
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                    {
                        "field": "o_linked_glycan_sites",
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                    {
                        "field": "n_linked_glycans",
                        "count": 0
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                    {
                        "field": "o_linked_glycans",
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                "sort_fields": []
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            {
                "table_id": "glycosylation_automatic_literature_mining",
                "table_stats": [
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                        "field": "total",
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                    {
                        "field": "total_sites",
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                    {
                        "field": "n_linked_glycan_sites",
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                        "field": "o_linked_glycan_sites",
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                        "field": "n_linked_glycans",
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                    {
                        "field": "o_linked_glycans",
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    {
        "title": "MPI depletion enhances O-GlcNAcylation of p53 and suppresses the Warburg effect.",
        "journal": "eLife",
        "date": "2017",
        "authors": "Shtraizent N, DeRossi C, Nayar S, Sachidanandam R, Katz LS, Prince A, Koh AP, Vincek A, Hadas Y, Hoshida Y, Scott DK, Eliyahu E, Freeze HH, Sadler KC, Chu J",
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            "type": "PubMed",
            "id": "28644127",
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            {
                "uniprot_canonical_ac": "P34949-1",
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            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
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                    {
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                ],
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                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "record_id": "pubmed.28644127",
        "abstract": "",
        "glycosylation": [],
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        "phosphorylation": [],
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        "section_stats": [
            {
                "table_id": "referenced_proteins",
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                ],
                "sort_fields": [
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                "table_stats": [
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                ],
                "sort_fields": []
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            {
                "table_id": "glycosylation",
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                        "field": "total",
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            {
                "table_id": "glycosylation_reported",
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    {
        "title": "Secretory diarrhea with protein-losing enteropathy, enterocolitis cystica superficialis, intestinal lymphangiectasia, and congenital hepatic fibrosis: a new syndrome.",
        "journal": "The Journal of pediatrics",
        "date": "1986",
        "authors": "Pelletier VA, Galeano N, Brochu P, Morin CL, Weber AM, Roy CC",
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            {
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                    {
                        "id": "rs28928906",
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                        "id": "rs28928906",
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                        "id": "12414827",
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                        "id": "3080572",
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                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis).",
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                "site_lbl": "R295",
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                            "url": "https://disease-ontology.org/term/DOID:1324",
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                            "description": "A respiratory system cancer that is located_in the lung."
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                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of the lung",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "LNCR1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "LNCR3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "LNCR4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "LNCR5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MIM:211980",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:4765"
                        ],
                        "evidence": [
                            {
                                "id": "1324",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1324"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0080554",
                        "recommended_name": {
                            "id": "DOID:0080554",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080554",
                            "name": "congenital disorder of glycosylation Ib",
                            "description": "A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0080554",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080554",
                                "name": "congenital disorder of glycosylation 1b",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "MPI-congenital disorder of glycosylation",
                                "description": "MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1)."
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "CDG syndrome type IB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
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                                "description": ""
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        "title": "Isolation of the human phosphomannomutase gene (PMM1) and assignment to chromosome 22q13.",
        "journal": "Genomics",
        "date": "1997",
        "authors": "Wada Y, Sakamoto M",
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                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O15305"
                    },
                    {
                        "id": "rs28936415",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28936415"
                    },
                    {
                        "id": "rs28936415",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs28936415"
                    },
                    {
                        "id": "rs28936415",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28936415"
                    },
                    {
                        "id": "rs28936415",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs28936415#frequency_tab"
                    },
                    {
                        "id": "rs28936415",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs28936415"
                    },
                    {
                        "id": "10527672",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/10527672"
                    },
                    {
                        "id": "10854097",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/10854097"
                    },
                    {
                        "id": "10922383",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/10922383"
                    },
                    {
                        "id": "11916319",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/11916319"
                    },
                    {
                        "id": "17166182",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/17166182"
                    },
                    {
                        "id": "9140401",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/9140401"
                    },
                    {
                        "id": "9781039",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/9781039"
                    },
                    {
                        "id": "rs28936415",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs28936415"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 141,
                "end_pos": 141,
                "subjects_tested": "4177",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "R",
                "sequence_mut": "H",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis).",
                "chr_id": "16",
                "chr_pos": "8811153",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "R141",
                "disease": [
                    {
                        "disease_id": "DOID:10283",
                        "recommended_name": {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:10283",
                            "name": "prostate cancer",
                            "description": "A male reproductive organ cancer that is located_in the prostate."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10283",
                                "name": "NGP - new growth of prostate",
                                "description": ""
                            },
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10283",
                                "name": "hereditary prostate cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10283",
                                "name": "malignant tumor of the prostate",
                                "description": ""
                            },
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10283",
                                "name": "prostate cancer, familial",
                                "description": ""
                            },
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10283",
                                "name": "prostate neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10283",
                                "name": "prostatic cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10283",
                                "name": "prostatic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10283",
                                "name": "tumor of the prostate",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                                "name": "prostate cancer, hereditary, X-linked 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                                "name": "HPCX1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                                "name": "prostate cancer, hereditary, X-linked 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010405",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                                "name": "prostate cancer, hereditary, X-linked 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010405",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                                "name": "HPCX2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010405",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                                "name": "prostate cancer, hereditary, X-linked 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "prostate cancer, hereditary, 1",
                                "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "RNASEL familial prostate cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "familial prostate cancer caused by mutation in RNASEL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "prostate cancer 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "prostate cancer, hereditary, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "prostate cancer, hereditary, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "HPC1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "prostate cancer, hereditary, 8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "prostate cancer, hereditary, 8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "prostate cancer, hereditary, type 8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "HPC8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "prostate cancer, hereditary, 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "prostate cancer, hereditary, 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "prostate cancer, hereditary, type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "prostate cancer, susceptibility to, 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "HPC3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, hereditary, 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, hereditary, 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, hereditary, type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, susceptibility to, 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "HPC4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012244",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                                "name": "prostate cancer, hereditary, 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012244",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                                "name": "prostate cancer, hereditary, 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012244",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                                "name": "prostate cancer, hereditary, type 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012244",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                                "name": "HPC5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "prostate cancer, hereditary, 6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "prostate cancer, hereditary, 6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "prostate cancer, hereditary, type 6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "HPC6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                                "name": "prostate cancer, hereditary, 7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                                "name": "HPC7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                                "name": "prostate cancer, hereditary, 7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012597",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                                "name": "prostate cancer, hereditary, 9",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012597",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                                "name": "prostate cancer, hereditary, 9",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012597",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                                "name": "prostate cancer, hereditary, type 9",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012597",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                                "name": "HPC9",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012620",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                                "name": "prostate cancer, hereditary, 10",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012620",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                                "name": "HPC10",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012620",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                                "name": "prostate cancer, hereditary, 10",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "prostate cancer, hereditary, 12",
                                "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "EHBP1 familial prostate cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "familial prostate cancer caused by mutation in EHBP1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "prostate cancer, hereditary, 12",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "prostate cancer, hereditary, type 12",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "HPC12",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "prostate cancer, hereditary, 13",
                                "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "MSMB familial prostate cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "familial prostate cancer caused by mutation in MSMB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "prostate cancer, hereditary, 13",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "prostate cancer, hereditary, type 13",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "HPC13",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012768",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                                "name": "prostate cancer, hereditary, 11",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012768",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                                "name": "HPC11",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012768",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                                "name": "prostate cancer, hereditary, 11",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012769",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                                "name": "prostate cancer, hereditary, 14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012769",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                                "name": "HPC14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012769",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                                "name": "prostate cancer, hereditary, 14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012770",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                                "name": "prostate cancer, hereditary, 15",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012770",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                                "name": "HPC15",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012770",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                                "name": "prostate cancer, hereditary, 15",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0700275",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0700275",
                                "name": "prostate cancer, hereditary",
                                "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents."
                            },
                            {
                                "id": "MIM:601518",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/601518",
                                "name": "Prostate cancer, hereditary, 1",
                                "description": "Prostate cancer, hereditary, 1"
                            },
                            {
                                "id": "MIM:610997",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/610997",
                                "name": "Prostate cancer, hereditary, 9",
                                "description": "Prostate cancer, hereditary, 9"
                            },
                            {
                                "id": "MIM:611868",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/611868",
                                "name": "Prostate cancer, hereditary, 12",
                                "description": "Prostate cancer, hereditary, 12"
                            },
                            {
                                "id": "MIM:611928",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/611928",
                                "name": "Prostate cancer, hereditary, 13",
                                "description": "Prostate cancer, hereditary, 13"
                            },
                            {
                                "id": "MIM:611955",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/611955",
                                "name": "Prostate cancer, hereditary, 11",
                                "description": "Prostate cancer, hereditary, 11"
                            },
                            {
                                "id": "MIM:176807",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/176807",
                                "name": "Prostate cancer",
                                "description": "Prostate cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "10283",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:10283"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0070339",
                        "recommended_name": {
                            "id": "DOID:0070339",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0070339",
                            "name": "cerebellar hyplasia/atrophy, epilepsy, and global developmental delay",
                            "description": "A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0008939",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008939",
                                "name": "isolated cerebellar hypoplasia/agenesis",
                                "description": "Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures."
                            },
                            {
                                "id": "MONDO:0008939",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008939",
                                "name": "Cerebellar Agenesis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008939",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008939",
                                "name": "Chiari 4 malformation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008939",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008939",
                                "name": "Chiari IV malformation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008939",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008939",
                                "name": "cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008939",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008939",
                                "name": "congenital cerebellar Hypoplasia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008939",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008939",
                                "name": "near total absence of cerebellum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008939",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008939",
                                "name": "subtotal absence of cerebellum",
                                "description": ""
                            },
                            {
                                "id": "MIM:213000",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/213000",
                                "name": "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay",
                                "description": "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0070339",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0070339"
                            },
                            {
                                "id": "0070339",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0070339"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0050570",
                        "recommended_name": {
                            "id": "DOID:0050570",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0050570",
                            "name": "congenital disorder of glycosylation type I",
                            "description": "A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "PMM2-congenital disorder of glycosylation",
                                "description": "The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults."
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "CDG 1A",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "CDG syndrome type Ia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "CDG-IA",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "CDG1A",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "PMM2-CDG",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "PMM2-congenital disorder of glycosylation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "carbohydrate deficient glycoprotein syndrome type Ia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "congenital disorder of glycosylation type 1a",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "congenital disorder of glycosylation type Ia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "phosphomannomutase 2 deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "PMM2-CDG (CDG-Ia)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "carbohydrate-deficient glycoprotein syndrome type 1A",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "carbohydrate-deficient glycoprotein syndrome type 1A (formerly)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "carbohydrate-deficient glycoprotein syndrome, type Ia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "congenital disorder of glycosylation, type Ia",
                                "description": ""
                            },
                            {
                                "id": "MIM:212065",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/212065",
                                "name": "Congenital disorder of glycosylation 1A",
                                "description": "Congenital disorder of glycosylation 1A"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0050570",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0050570"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0080552",
                        "recommended_name": {
                            "id": "DOID:0080552",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080552",
                            "name": "congenital disorder of glycosylation Ia",
                            "description": "A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0080552",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080552",
                                "name": "PMM2-congenital disorder of glycosylation",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080552",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080552",
                                "name": "congenital disorder of glycosylation 1a",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "PMM2-congenital disorder of glycosylation",
                                "description": "The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults."
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "CDG 1A",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "CDG syndrome type Ia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "CDG-IA",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "CDG1A",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "PMM2-CDG",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "PMM2-congenital disorder of glycosylation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "carbohydrate deficient glycoprotein syndrome type Ia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "congenital disorder of glycosylation type 1a",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "congenital disorder of glycosylation type Ia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "phosphomannomutase 2 deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "PMM2-CDG (CDG-Ia)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "carbohydrate-deficient glycoprotein syndrome type 1A",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "carbohydrate-deficient glycoprotein syndrome type 1A (formerly)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "carbohydrate-deficient glycoprotein syndrome, type Ia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "congenital disorder of glycosylation, type Ia",
                                "description": ""
                            },
                            {
                                "id": "MIM:212065",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/212065",
                                "name": "Congenital disorder of glycosylation 1A",
                                "description": "Congenital disorder of glycosylation 1A"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0080552",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080552"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ],
                "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000",
                "uniprot_canonical_ac": "O15305-1"
            },
            {
                "evidence": [
                    {
                        "id": "O15305",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O15305"
                    },
                    {
                        "id": "rs104894526",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104894526"
                    },
                    {
                        "id": "rs104894526",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104894526"
                    },
                    {
                        "id": "rs104894526",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs104894526#frequency_tab"
                    },
                    {
                        "id": "rs104894526",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs104894526"
                    },
                    {
                        "id": "9140401",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/9140401"
                    },
                    {
                        "id": "rs104894526",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs104894526"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 162,
                "end_pos": 162,
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "R",
                "sequence_mut": "W",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis).",
                "chr_id": "16",
                "chr_pos": "8811674",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "R162",
                "disease": [
                    {
                        "disease_id": "DOID:4159",
                        "recommended_name": {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:4159",
                            "name": "skin cancer",
                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "malignant neoplasm of skin",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3149",
                            "DOID:3451"
                        ],
                        "evidence": [
                            {
                                "id": "4159",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0050570",
                        "recommended_name": {
                            "id": "DOID:0050570",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0050570",
                            "name": "congenital disorder of glycosylation type I",
                            "description": "A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "PMM2-congenital disorder of glycosylation",
                                "description": "The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults."
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "CDG 1A",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "CDG syndrome type Ia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "CDG-IA",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "CDG1A",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "PMM2-CDG",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "PMM2-congenital disorder of glycosylation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "carbohydrate deficient glycoprotein syndrome type Ia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "congenital disorder of glycosylation type 1a",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "congenital disorder of glycosylation type Ia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "phosphomannomutase 2 deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "PMM2-CDG (CDG-Ia)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "carbohydrate-deficient glycoprotein syndrome type 1A",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "carbohydrate-deficient glycoprotein syndrome type 1A (formerly)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008907",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008907",
                                "name": "carbohydrate-deficient glycoprotein syndrome, type Ia",
                                "description": ""
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                            {
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                        "field": "o_linked_glycan_sites",
                        "count": 0
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                    {
                        "field": "n_linked_glycans",
                        "count": 0
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                    {
                        "field": "o_linked_glycans",
                        "count": 0
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                "sort_fields": []
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            {
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                        "field": "total",
                        "count": 0
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                    {
                        "field": "total_sites",
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                        "field": "n_linked_glycan_sites",
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                        "field": "o_linked_glycans",
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                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_automatic_literature_mining",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
                    },
                    {
                        "field": "total_sites",
                        "count": 0
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                    {
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        ]
    },
    {
        "title": "Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.",
        "journal": "The Journal of clinical investigation",
        "date": "1998",
        "authors": "Niehues R, Hasilik M, Alton G, Korner C, Schiebe-Sukumar M, Koch HG, Zimmer KP, Wu R, Harms E, Reiter K, von Figura K, Freeze HH, Harms HK, Marquardt T",
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            {
                "uniprot_canonical_ac": "P34949-1",
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        ],
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                ],
                "common_name": "Human",
                "glygen_name": "Human",
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            {
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                "site_lbl": "R219",
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                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            },
                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            },
                            {
                                "id": "MONDO:0005575",
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                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumor",
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                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumour",
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                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large bowel",
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                            {
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                            {
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large intestine",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "CRC",
                                "description": ""
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                                "id": "MIM:114500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/114500",
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                                "description": "Colorectal cancer"
                            }
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                                "id": "9256",
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080554",
                            "name": "congenital disorder of glycosylation Ib",
                            "description": "A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24."
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                                "id": "DOID:0080554",
                                "resource": "Disease Ontology",
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                                "name": "congenital disorder of glycosylation 1b",
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                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "MPI-congenital disorder of glycosylation",
                                "description": "MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1)."
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "CDG syndrome type IB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "CDG-Ib",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "CDG1B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "MPI-CDG",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "carbohydrate deficient glycoprotein syndrome type IB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "congenital disorder of glycosylation type 1b",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "congenital disorder of glycosylation type IB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "phosphomannose isomerase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "CDG 1B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "CDG gastrointestinal type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "MPI-CDG (CDG-Ib)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "SLSJ syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "Saguenay Lac Saint Jean syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "carbohydrate-deficient glycoprotein syndrome type 1B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "congenital disorder of glycosylation, type IB",
                                "description": ""
                            },
                            {
                                "id": "MIM:602579",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/602579",
                                "name": "Congenital disorder of glycosylation 1B",
                                "description": "Congenital disorder of glycosylation 1B"
                            }
                        ],
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                        "evidence": [
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                                "id": "0011257",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257"
                            },
                            {
                                "id": "602579",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/602579"
                            },
                            {
                                "id": "MPI",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/MPI/#!details"
                            },
                            {
                                "id": "4351",
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                                "url": "https://glycosmos.org/glycogenes/show/4351#disease"
                            },
                            {
                                "id": "0080554",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080554"
                            }
                        ]
                    }
                ],
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        "phosphorylation": [],
        "glycation": [],
        "section_stats": [
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                        "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
                    },
                    {
                        "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_predicted",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
                    },
                    {
                        "field": "total_sites",
                        "count": 0
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                    {
                        "field": "n_linked_sites",
                        "count": 0
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                    {
                        "field": "o_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycan_sites",
                        "count": 0
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                    {
                        "field": "o_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycans",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_automatic_literature_mining",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
                    },
                    {
                        "field": "total_sites",
                        "count": 0
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                    {
                        "field": "n_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_sites",
                        "count": 0
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                    {
                        "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": []
            }
        ]
    },
    {
        "title": "Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.",
        "journal": "American journal of human genetics",
        "date": "1998",
        "authors": "Jaeken J, Matthijs G, Saudubray JM, Dionisi-Vici C, Bertini E, de Lonlay P, Henri H, Carchon H, Schollen E, Van Schaftingen E",
        "reference": {
            "type": "PubMed",
            "id": "9585601",
            "url": "https://pubmed.ncbi.nlm.nih.gov/9585601"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "P34949-1",
                "protein_name": "Mannose-6-phosphate isomerase",
                "gene_name": "MPI",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "P34949",
                        "url": "https://www.uniprot.org/uniprotkb/P34949"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
                "evidence": [
                    {
                        "id": "P34949",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P34949"
                    },
                    {
                        "id": "rs104894494",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104894494"
                    },
                    {
                        "id": "rs104894494",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104894494"
                    },
                    {
                        "id": "rs104894494",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs104894494#frequency_tab"
                    },
                    {
                        "id": "rs104894494",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs104894494"
                    },
                    {
                        "id": "9585601",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/9585601"
                    },
                    {
                        "id": "rs104894494",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs104894494"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 102,
                "end_pos": 102,
                "subjects_tested": "1906",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "S",
                "sequence_mut": "L",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis).",
                "chr_id": "15",
                "chr_pos": "74891539",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "S102",
                "disease": [
                    {
                        "disease_id": "DOID:11054",
                        "recommended_name": {
                            "id": "DOID:11054",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:11054",
                            "name": "urinary bladder cancer",
                            "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:11054",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11054",
                                "name": "bladder cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:11054",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11054",
                                "name": "tumor of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the bladder."
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "tumor of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "tumour of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "bladder cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "cancer of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm, bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm, urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor, urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant tumour",
                                "description": ""
                            },
                            {
                                "id": "MIM:109800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/109800",
                                "name": "Bladder cancer",
                                "description": "Bladder cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "11054",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:11054"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0080554",
                        "recommended_name": {
                            "id": "DOID:0080554",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080554",
                            "name": "congenital disorder of glycosylation Ib",
                            "description": "A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0080554",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080554",
                                "name": "congenital disorder of glycosylation 1b",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "MPI-congenital disorder of glycosylation",
                                "description": "MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1)."
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "CDG syndrome type IB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "CDG-Ib",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "CDG1B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "MPI-CDG",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "carbohydrate deficient glycoprotein syndrome type IB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "congenital disorder of glycosylation type 1b",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "congenital disorder of glycosylation type IB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "phosphomannose isomerase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "CDG 1B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "CDG gastrointestinal type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "MPI-CDG (CDG-Ib)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "SLSJ syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "Saguenay Lac Saint Jean syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "carbohydrate-deficient glycoprotein syndrome type 1B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "congenital disorder of glycosylation, type IB",
                                "description": ""
                            },
                            {
                                "id": "MIM:602579",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/602579",
                                "name": "Congenital disorder of glycosylation 1B",
                                "description": "Congenital disorder of glycosylation 1B"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0011257",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257"
                            },
                            {
                                "id": "602579",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/602579"
                            },
                            {
                                "id": "MPI",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/MPI/#!details"
                            },
                            {
                                "id": "4351",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/4351#disease"
                            },
                            {
                                "id": "0080554",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080554"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ],
                "filter_code": "000000000000000100000.00000000000000.000000000001000000.00011.01.000.001",
                "uniprot_canonical_ac": "P34949-1"
            },
            {
                "evidence": [
                    {
                        "id": "rs104894495",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104894495"
                    },
                    {
                        "id": "rs104894495",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs104894495#frequency_tab"
                    },
                    {
                        "id": "9585601",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/9585601"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 138,
                "end_pos": 138,
                "sequence_org": "M",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.",
                "chr_id": "15",
                "chr_pos": "74892728",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "M138",
                "disease": [
                    {
                        "disease_id": "DOID:0080554",
                        "recommended_name": {
                            "id": "DOID:0080554",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080554",
                            "name": "congenital disorder of glycosylation Ib",
                            "description": "A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0080554",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080554",
                                "name": "congenital disorder of glycosylation 1b",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "MPI-congenital disorder of glycosylation",
                                "description": "MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1)."
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "CDG syndrome type IB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "CDG-Ib",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "CDG1B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "MPI-CDG",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "carbohydrate deficient glycoprotein syndrome type IB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "congenital disorder of glycosylation type 1b",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "congenital disorder of glycosylation type IB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "phosphomannose isomerase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "CDG 1B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "CDG gastrointestinal type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "MPI-CDG (CDG-Ib)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "SLSJ syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "Saguenay Lac Saint Jean syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "carbohydrate-deficient glycoprotein syndrome type 1B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257",
                                "name": "congenital disorder of glycosylation, type IB",
                                "description": ""
                            },
                            {
                                "id": "MIM:602579",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/602579",
                                "name": "Congenital disorder of glycosylation 1B",
                                "description": "Congenital disorder of glycosylation 1B"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0011257",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011257"
                            },
                            {
                                "id": "602579",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/602579"
                            },
                            {
                                "id": "MPI",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/MPI/#!details"
                            },
                            {
                                "id": "4351",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/4351#disease"
                            },
                            {
                                "id": "0080554",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080554"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "filter_code": "000000000000100000000.00000000000000.000000000001000000.00001.11.000.000",
                "uniprot_canonical_ac": "P34949-1"
            }
        ],
        "record_id": "pubmed.9585601",
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        "glycation": [],
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            {
                "table_id": "glycosylation_reported",
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                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_reported_with_glycan",
                "table_stats": [
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                    {
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                "table_id": "glycosylation_predicted",
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    },
    {
        "title": "Proteasomes from Dictyostelium discoideum: characterization of structure and function.",
        "journal": "J. Struct. Biol.",
        "date": "1993",
        "authors": "Schauer T M, Nesper M, Kehl M, Lottspeich F, M\u00fcller-Taubenberger A, Gerisch G, Baumeister W",
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            {
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            },
            {
                "uniprot_canonical_ac": "Q55GJ6-1",
                "protein_name": "Proteasome subunit beta type-6",
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                "tax_name": "Social amoeba"
            },
            {
                "uniprot_canonical_ac": "P34119-1",
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                "tax_name": "Social amoeba"
            },
            {
                "uniprot_canonical_ac": "P34120-1",
                "protein_name": "Proteasome subunit alpha type-7",
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                "tax_name": "Social amoeba"
            }
        ],
        "species": [
            {
                "name": "Dictyostelium discoideum",
                "taxid": 44689,
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                    {
                        "database": "UniProtKB",
                        "id": "Q54BC8",
                        "url": "https://www.uniprot.org/uniprotkb/Q54BC8"
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                ],
                "common_name": "Social amoeba",
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        ],
        "record_id": "pubmed.8130037",
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    {
        "title": "Tyrosine phosphorylation-independent nuclear translocation of a dictyostelium STAT in response to DIF signaling.",
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        "authors": "Fukuzawa M, Araki T, Adrian I, Williams J G",
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    {
        "title": "Characterization of NE81, the first lamin-like nucleoskeleton protein in a unicellular organism.",
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        "date": "2012-01",
        "authors": "Kr\u00fcger Anne, Batsios Petros, Baumann Otto, Luckert Eva, Schwarz Heinz, Stick Reimer, Meyer Irene, Gr\u00e4f Ralph",
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