{
    "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"
        ]
    },
    "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-2.8.1\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-2.8.1/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-2.8.1/reviewed/human_protein_disease_cdg.csv\n      Name: human_protein_disease_cdg.stat.csv\n      URI: https:/data.glygen.org/ln2releases/data/v-2.8.1/reviewed/human_protein_disease_cdg.stat.csv\n\nFields\n      Name: \"uniprotkb_canonical_ac\"\n     Description: \"\"\n      Unique Values: \"96\"\n      Name: \"xref_key\"\n     Description: \"Source key associated to the  xref_id\"\n      Unique Values: \"1\"\n      Name: \"xref_id\"\n     Description: \"ID of the X-ref\"\n      Unique Values: \"95\"\n      Name: \"gene_symbol_human\"\n     Description: \"The gene symbol assigned to a human genes\"\n      Unique Values: \"96\"\n      Name: \"disease_aliases\"\n     Description: \"NAThe alternative names given to a disease\"\n      Unique Values: \"98\"\n      Name: \"disease_name\"\n     Description: \"The name of the disease\"\n      Unique Values: \"95\"\n      Name: \"mondo_disease_label\"\n     Description: \"The disease name in Mondo Disease Ontology (MONDO)\"\n      Unique Values: \"95\"\n      Name: \"mondo_id\"\n     Description: \"The Mondo Disease Ontology (MONDO) identifier\"\n      Unique Values: \"95\"\n      Name: \"uniprotkb_ac_mouse\"\n     Description: \"The UniProtKB accession assigned to mouse proteins\"\n      Unique Values: \"96\"\n      Name: \"mgi_id\"\n     Description: \"Mouse Genome Informatics (MGI) identifier\"\n      Unique Values: \"96\"\n      Name: \"gene_symbol_mouse\"\n     Description: \"The gene symbol assigned to mouse genes\"\n      Unique Values: \"96\"\n      Name: \"mgi_allele_summary_link\"\n     Description: \"The link to the allele summary page for a given identifier in MGI\"\n      Unique Values: \"96\"",
    "downloadurl": "/ln2data/releases/data/v-2.8.1/reviewed/human_protein_disease_cdg.csv"
}