{
    "bcoid": "GLY_000230",
    "title": "Human Congenital Disorders of Glycosylation",
    "description": "The Human Congenital Disorders of Glycosylation dataset contains a list of congenital disorders of glycosylation ...",
    "filename_list": "human_protein_disease_cdg.csv",
    "filename": "human_protein_disease_cdg.csv",
    "filetype": "csv",
    "categories": {
        "species": [
            "Homo sapiens"
        ],
        "molecule": [
            "Protein"
        ],
        "tag": [
            "Diseases"
        ],
        "file_type": [
            "csv"
        ],
        "status": [
            "Reviewed"
        ],
        "scope": [
            "internal"
        ],
        "file_category": [
            "disease_"
        ]
    },
    "minitable": {
        "content": [
            [
                "Q9BT22-1...",
                "protein_xref..."
            ],
            [
                "Q2TAA5-1...",
                "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_human"
                },
                {
                    "type": "string",
                    "label": "disease_aliases"
                },
                {
                    "type": "string",
                    "label": "disease_name"
                },
                {
                    "type": "string",
                    "label": "mondo_disease_label"
                },
                {
                    "type": "string",
                    "label": "mondo_id"
                },
                {
                    "type": "string",
                    "label": "uniprotkb_ac_mouse"
                },
                {
                    "type": "string",
                    "label": "mgi_id"
                },
                {
                    "type": "string",
                    "label": "gene_symbol_mouse"
                },
                {
                    "type": "string",
                    "label": "mgi_allele_summary_link"
                }
            ],
            [
                "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",
                "Q921Q3",
                "2384774",
                "Alg1",
                "http://www.informatics.jax.org/allele/summary?markerId=MGI:2384774"
            ],
            [
                "Q2TAA5-1",
                "protein_xref_mondo",
                "13349",
                "ALG11",
                "CDG-Ip, Congenital Disorder of Glycosylation, Type Ip",
                "ALG11-CDG",
                "ALG11-CDG",
                "MONDO:0013349",
                "Q3TZM9",
                "2142632",
                "Alg11",
                "http://www.informatics.jax.org/allele/summary?markerId=MGI:2142632"
            ]
        ]
    },
    "readme": "Name\n   - Human Congenital Disorders of Glycosylation\n\nVersion\n   - v-2.12.1\n\nCreated on\n  - 2019-09-06T14:06:38.958276\n\nModified on\n   - 2024-05-17T11:23:52.908Z\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   - Jeet Vora [jeetvora@gwu.edu], Jean-Philippe Gourdine [gourdine@ohsu.edu], Melissa Haendel [haendel@ohsu.edu], Cynthia Smith [cynthia.Smith@jax.org]\n\nChecksum\n   - \n\nUsability Domain\n   - The Human Congenital Disorders of Glycosylation dataset contains a list of congenital disorders of glycosylation mapped to human [taxid:9606] UniProtKB accessions. The dataset also contains mouse orthologs and links to phenotype page on MGI. If you use this dataset please provide proper attribution to Monarch Initiative and GlyGen. \n\nDescription Domain\n   Keywords\n   - congenital disorders of glycosylation\n   - MGI\n   - Monarch Initiative\n   - phenotype\n\n   Pipeline Steps\n   - Step-1: 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_cdg.csv\n      URI: https:/data.glygen.org/ln2releases/data/v-2.12.1/compiled/human_protein_disease_cdg.csv\n   Output Subdomain\n      Name: human_protein_disease_cdg.csv\n      URI: https:/data.glygen.org/ln2releases/data/v-2.12.1/reviewed/human_protein_disease_cdg.csv\n      Name: human_protein_disease_cdg.stat.csv\n      URI: https:/data.glygen.org/ln2releases/data/v-2.12.1/reviewed/human_protein_disease_cdg.stat.csv\n\nFields\n      Name: \"uniprotkb_canonical_ac\"\"\n     Description: \"\"\n      Unique Values: \"96\"",
    "downloadurl": "/ln2data/releases/data/v-2.12.1/reviewed/human_protein_disease_cdg.csv"
}