[
    {
        "title": "MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If.",
        "journal": "The Journal of clinical investigation",
        "date": "2001",
        "authors": "Schenk B, Imbach T, Frank CG, Grubenmann CE, Raymond GV, Hurvitz H, Korn-Lubetzki I, Revel-Vik S, Raas-Rotschild A, Luder AS, Jaeken J, Berger EG, Matthijs G, Hennet T, Aebi M",
        "reference": {
            "type": "PubMed",
            "id": "11733564",
            "url": "https://pubmed.ncbi.nlm.nih.gov/11733564"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "O75352-1",
                "protein_name": "Mannose-P-dolichol utilization defect 1 protein",
                "gene_name": "MPDU1",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "O75352",
                        "url": "https://www.uniprot.org/uniprotkb/O75352"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
                "evidence": [
                    {
                        "id": "rs104894587",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104894587"
                    },
                    {
                        "id": "rs104894587",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs104894587"
                    },
                    {
                        "id": "11733564",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/11733564"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 119,
                "end_pos": 119,
                "sequence_org": "L",
                "sequence_mut": "P",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, llo pathway.",
                "chr_id": "17",
                "chr_pos": "7586745",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L119",
                "disease": [
                    {
                        "disease_id": "DOID:0080558",
                        "recommended_name": {
                            "id": "DOID:0080558",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080558",
                            "name": "congenital disorder of glycosylation If",
                            "description": "A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0080558",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080558",
                                "name": "congenital disorder of glycosylation 1f",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012211",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012211",
                                "name": "MPDU1-congenital disorder of glycosylation",
                                "description": "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies."
                            },
                            {
                                "id": "MONDO:0012211",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012211",
                                "name": "CDG syndrome type If",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012211",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012211",
                                "name": "CDG-If",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012211",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012211",
                                "name": "CDG1F",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012211",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012211",
                                "name": "CDGIf",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012211",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012211",
                                "name": "MPDU1-CDG",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012211",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012211",
                                "name": "carbohydrate deficient glycoprotein syndrome type If",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012211",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012211",
                                "name": "congenital disorder of glycosylation type 1f",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012211",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012211",
                                "name": "congenital disorder of glycosylation type If",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012211",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012211",
                                "name": "CDG 1F",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012211",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012211",
                                "name": "MPDU1-CDG (CDG-If)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012211",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012211",
                                "name": "carbohydrate-deficient glycoprotein syndrome type 1F",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012211",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012211",
                                "name": "congenital disorder of glycosylation, type If",
                                "description": ""
                            },
                            {
                                "id": "MIM:609180",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/609180",
                                "name": "Congenital disorder of glycosylation 1F",
                                "description": "Congenital disorder of glycosylation 1F"
                            }
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                                "id": "0012211",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0012211"
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                            {
                                "id": "609180",
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                                "url": "https://www.omim.org/entry/609180"
                            },
                            {
                                "id": "MPDU1",
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                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/MPDU1/#!details"
                            },
                            {
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                            },
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                ],
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                ],
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            {
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                        "id": "11733564",
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                ],
                "glycoeffect": [],
                "start_pos": 171,
                "end_pos": 171,
                "sequence_org": "L",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, llo pathway.",
                "chr_id": "17",
                "chr_pos": "7587164",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L171",
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                    {
                        "disease_id": "DOID:0080558",
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                                "resource": "MONDO",
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                                "id": "MONDO:0012211",
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                                "id": "MONDO:0012211",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012211",
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                                "id": "MONDO:0012211",
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                                "name": "MPDU1-congenital disorder of glycosylation",
                                "description": "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies."
                            },
                            {
                                "id": "MONDO:0012211",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012211",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0012211",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012211",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
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                                "url": "https://monarchinitiative.org/disease/MONDO:0012211",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0012211",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012211",
                                "name": "congenital disorder of glycosylation type If",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012211",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0012211",
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                                "description": ""
                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0012211",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012211",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012211",
                                "name": "congenital disorder of glycosylation, type If",
                                "description": ""
                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/609180",
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                            }
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                            },
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        "title": "Expanding the phenome and variome of skeletal dysplasia.",
        "journal": "Genetics in medicine : official journal of the American College of Medical Genetics",
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        "authors": "Maddirevula S, Alsahli S, Alhabeeb L, Patel N, Alzahrani F, Shamseldin HE, Anazi S, Ewida N, Alsaif HS, Mohamed JY, Alazami AM, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Monies D, Al Tassan N, Alshammari M, Alsagheir A, Seidahmed MZ, Sogati S, Aglan MS, Hamad MH, Salih MA, Hamed AA, Alhashmi N, Nabil A, Alfadli F, Abdel-Salam GMH, Alkuraya H, Peitee WO, Keng WT, Qasem A, Mushiba AM, Zaki MS, Fassad MR, Alfadhel M, Alexander S, Sabr Y, Temtamy S, Ekbote AV, Ismail S, Hosny GA, Otaify GA, Amr K, Al Tala S, Khan AO, Rizk T, Alaqeel A, Alsiddiky A, Singh A, Kapoor S, Alhashem A, Faqeih E, Shaheen R, Alkuraya FS",
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        "title": "An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO.",
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    {
        "title": "NDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human complex I.",
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        "authors": "Rhein VF, Carroll J, Ding S, Fearnley IM, Walker JE",
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