{
    "bcoid": "GLY_000225",
    "title": "Human Protein Glycosylation Diseases",
    "description": "The Human Diseases dataset contains list of Homo sapiens [taxid:9606] diseases as described by OMIM and ...",
    "filename_list": "human_protein_disease_glyco.csv",
    "filename": "human_protein_disease_glyco.csv",
    "filetype": "csv",
    "categories": {
        "species": [
            "Homo sapiens"
        ],
        "molecule": [
            "Protein"
        ],
        "tag": [
            "Diseases_Glyco"
        ],
        "file_type": [
            "csv"
        ],
        "status": [
            "Reviewed"
        ],
        "scope": [
            "internal"
        ],
        "file_category": [
            "disease_"
        ]
    },
    "minitable": {
        "content": [
            [
                "P20933-1...",
                "protein_xref..."
            ],
            [
                "Q9BT22-1...",
                "protein_xref..."
            ]
        ],
        "headers": [
            "uniprotkb_ca...",
            "xref_key..."
        ],
        "colwidth": [
            "40%",
            "20%"
        ]
    },
    "sampledata": {
        "type": "table",
        "data": [
            [
                {
                    "type": "string",
                    "label": "uniprotkb_canonical_ac"
                },
                {
                    "type": "string",
                    "label": "xref_key"
                },
                {
                    "type": "string",
                    "label": "xref_id"
                },
                {
                    "type": "string",
                    "label": "gene_symbol"
                },
                {
                    "type": "string",
                    "label": "disease_aliases"
                },
                {
                    "type": "string",
                    "label": "mondo_disease_name"
                },
                {
                    "type": "string",
                    "label": "mondo_label"
                },
                {
                    "type": "string",
                    "label": "mondo_id"
                },
                {
                    "type": "string",
                    "label": "pmid"
                }
            ],
            [
                "P20933-1",
                "protein_xref_mondo",
                "8830",
                "AGA",
                "aspartylglucosaminuria, aspartylglucosaminidase deficiency, glycosylasparaginase deficiency, aspartylglycosaminuria",
                "Aspartylglucosaminuria",
                "Aspartylglucosaminuria",
                "MONDO:0008830",
                ""
            ],
            [
                "Q9BT22-1",
                "protein_xref_mondo",
                "12052",
                "ALG1",
                "CDG1K, congenital disorder of glycosylation type Ik, mannosyltransferase 1 deficiency, CDG syndrome type Ik, congenital disorder of glycosylation type 1k, CDG-Ik, carbohydrate deficient glycoprotein syndrome type Ik",
                "ALG1-CDG",
                "ALG1-CDG",
                "MONDO:0012052",
                "26430078"
            ]
        ]
    },
    "readme": "Name\n   - Human Protein Glycosylation Diseases\n\nVersion\n   - v-2.12.1\n\nCreated on\n  - 2019-09-06T14:06:38.953629\n\nModified on\n   - 2024-12-10T17:00:22.701Z\n\nCreated by\n   - Jeet Vora [jeetvora@gwu.edu], Robel Kahsay [rykahsay@gwu.edu], Karina Martinez [karinamartinez@gwu.edu], Luke Johnson [luke.johnson@email.gwu.edu], Urnisha Bhuiyan [sbhuiyan28@email.gwu.edu], Cyrus Au-Yeung [cyruschauyeung@gwu.edu], Kate Warner [k.warner1@gwu.edu]\n\nAuthors\n   - Maria Martin [martin@ebi.ac.uk], Preethi Vasudev [pvasudev@ebi.ac.uk], Jean-Philippe Gourdine [gourdine@ohsu.edu], Melissa Haendel [haendel@ohsu.edu]\n\nChecksum\n   - \n\nUsability Domain\n   - The Human Diseases dataset contains list of Homo sapiens [taxid:9606] diseases as described by OMIM and Monarch Initiative database. \n   - Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. \n   - The Monarch Initiative is focused primarily on phenotype-related resources and brings in data associated with those phenotypes so that the users can begin to make connections among other biological entities of interest. \n   - If you are using this dataset please give proper attribution to OMIM, Monarch Initiative, EMBL-EBI-UniProt and GlyGen. \n\nDescription Domain\n   Keywords\n   - disease\n   - HPO\n   - OMIM\n   - Congenital Disorders of Glycosylation (CDG)\n   - Monarch Initiative\n\n   Pipeline Steps\n   - Step-1: The script extracts the glycosylation disease information from the human_protein_disease_glyco.csv that is compiled from human_glyco-phenotype_disease_curation_list_v12-18-74.csv. The script maps the UniProtKB accessions to the UniprotKB canonical accessions. \n\nExecution Domain\n   Scripts   - https://github.com/glygener/glygen-backend-integration/blob/master/dataset-maker/make-protein-dataset.py\n\n\n   Software Prerequisites\n      Name: Python\n      Version: 2.7.5\n      URI: https://www.python.org/download/releases/2.7.5/\n\nI/O Domain\n   Input Subdomain\n      Name: human_protein_disease_glyco.csv\n      URI: https:/data.glygen.org/ln2releases/data/v-2.12.1/compiled/human_protein_disease_glyco.csv\n   Output Subdomain\n      Name: human_protein_disease_glyco.csv\n      URI: https:/data.glygen.org/ln2releases/data/v-2.12.1/reviewed/human_protein_disease_glyco.csv\n      Name: human_protein_disease_glyco.stat.csv\n      URI: https:/data.glygen.org/ln2releases/data/v-2.12.1/reviewed/human_protein_disease_glyco.stat.csv\n\nFields\n      Name: \"uniprotkb_canonical_ac\"\"\n     Description: \"\"\n      Unique Values: \"170\"",
    "downloadurl": "/ln2data/releases/data/v-2.12.1/reviewed/human_protein_disease_glyco.csv"
}