{
    "bcoid": "GLY_000084",
    "title": "Human Protein Diseases (UniProtKB)",
    "description": "The Human Protein Diseases dataset contains list of Homo sapiens [taxid:9606] diseases from OMIM, MONDO ...",
    "filename_list": "human_protein_disease_uniprotkb.csv",
    "filename": "human_protein_disease_uniprotkb.csv",
    "filetype": "csv",
    "categories": {
        "species": [
            "Homo sapiens"
        ],
        "molecule": [
            "Protein"
        ],
        "tag": [
            "Diseases_UniProtKB"
        ],
        "file_type": [
            "csv"
        ],
        "status": [
            "Reviewed"
        ],
        "scope": [
            "internal"
        ]
    },
    "minitable": {
        "content": [
            [
                "P30613-1...",
                "protein_xref..."
            ],
            [
                "P30613-1...",
                "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": "do_id"
                },
                {
                    "type": "string",
                    "label": "mondo_id"
                },
                {
                    "type": "string",
                    "label": "mim_id"
                }
            ],
            [
                "P30613-1",
                "protein_xref_omim",
                "102900",
                "",
                "0007067",
                "102900"
            ],
            [
                "P30613-1",
                "protein_xref_omim",
                "266200",
                "0111077",
                "0009950",
                "266200"
            ]
        ]
    },
    "readme": "Name\n   - Human Protein Diseases (UniProtKB)\n\nVersion\n   - v-2.8.1\n\nCreated on\n  - 2019-01-23T17:21:05.953432\n\nModified on\n   - 2024-12-10T16:58:27.808Z\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   - Not Applicable []\n\nChecksum\n   - \n\nUsability Domain\n   - The Human Protein Diseases dataset contains list of Homo sapiens [taxid:9606] diseases from OMIM, MONDO and Genomics England databases mapped to the UniProtKB protein canonical accessions and Disease Ontology (DO) identifiers..\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   - The Disease Ontology has been developed as a standardized ontology for human disease with the purpose of providing the biomedical community with consistent, reusable and sustainable descriptions of human disease terms, phenotype characteristics and related medical vocabulary disease concepts through collaborative efforts of biomedical researchers, coordinated by the University of Maryland School of Medicine, Institute for Genome Sciences.\n   - If you are using this dataset please give proper attribution to OMIM, Monarch Initiative, DO, and EMBL-EBI-UniProt and GlyGen\n\nDescription Domain\n   Keywords\n   - disease\n   - HPO\n   - OMIM\n   - Genomics England PanelApp\n   - Monarch Initiative\n   - MONDO\n   - DO\n\n   Pipeline Steps\n   - Step-1: The script extracts the OMIM phenotypes for UniProtKB accessions and MONDO disease information from human_glyco-phenotype_disease_curation_list_v12-18-74.csv and Genomics England disease data from . 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: protein_disease_idmap.csv\n      URI: https:/data.glygen.org/ln2releases/data/v-2.8.1/reviewed/protein_disease_idmap.csv\n      Name: uniprot-proteome-homo-sapiens.nt\n      URI: https:/data.glygen.org/ln2downloads/ebi/2025_01_17/uniprot-proteome-homo-sapiens.nt\n      Name: human_glyco-phenotype_disease_curation_list_v12-18-74.csv\n      URI: https:/data.glygen.org/ln2downloads/ohsu/human_glyco-phenotype_disease_curation_list_v12-18-74.csv\n   Output Subdomain\n      Name: human_protein_disease_uniprotkb.csv\n      URI: https:/data.glygen.org/ln2releases/data/v-2.8.1/reviewed/human_protein_disease_uniprotkb.csv\n      Name: human_protein_disease_uniprotkb.stat.csv\n      URI: https:/data.glygen.org/ln2releases/data/v-2.8.1/reviewed/human_protein_disease_uniprotkb.stat.csv\n\nFields\n      Name: \"uniprotkb_canonical_ac\"\n     Description: \"\"\n      Unique Values: \"4901\"\n      Name: \"xref_key\"\n     Description: \"Source key associated to the  xref_id\"\n      Unique Values: \"2\"\n      Name: \"xref_id\"\n     Description: \"ID of the X-ref\"\n      Unique Values: \"6889\"\n      Name: \"do_id\"\n     Description: \"Disease Ontology identifier\"\n      Unique Values: \"4815\"\n      Name: \"mondo_id\"\n     Description: \"The Mondo Disease Ontology (MONDO) identifier\"\n      Unique Values: \"6643\"\n      Name: \"mim_id\"\n     Description: \"Disease ID from the OMIM database\"\n      Unique Values: \"6705\"",
    "downloadurl": "/ln2data/releases/data/v-2.8.1/reviewed/human_protein_disease_uniprotkb.csv"
}