{ "bcoid": "GLY_000110", "title": "Human UniProtKB Xref OMIM", "description": "The Human UniprotKB Xref OMIM contains human [taxid:9606] UniProtKB canonical accessions cross-referenced ...", "filename": "human_protein_xref_mim.csv", "filetype": "csv", "categories": { "species": [ "Homo sapiens" ], "molecule": [ "Protein" ], "tag": [ "Omim cross-references" ], "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": "xref_label" } ], [ "P30613-1", "protein_xref_mim", "102900", "phenotype" ], [ "P30613-1", "protein_xref_mim", "266200", "phenotype" ], [ "P30613-1", "protein_xref_mim", "609712", "gene" ], [ "Q96J66-1", "protein_xref_mim", "117800", "phenotype" ], [ "Q96J66-1", "protein_xref_mim", "607040", "gene" ], [ "Q96J65-1", "protein_xref_mim", "607041", "gene" ], [ "P40424-1", "protein_xref_mim", "176310", "gene" ], [ "P40424-1", "protein_xref_mim", "617641", "phenotype" ], [ "P40425-1", "protein_xref_mim", "176311", "gene" ], [ "P40426-1", "protein_xref_mim", "176312", "gene" ], [ "P40429-1", "protein_xref_mim", "619225", "gene" ], [ "Q9H2I8-1", "protein_xref_mim", "614537", "gene" ], [ "Q9H2I8-1", "protein_xref_mim", "615179", "phenotype" ], [ "Q9BXR3-1", "protein_xref_mim", "605626", "gene" ], [ "Q9BXR3-1", "protein_xref_mim", "605626", "gene" ], [ "Q8N865-1", "protein_xref_mim", "616071", "gene" ], [ "Q86VY4-1", "protein_xref_mim", "614721", "gene" ], [ "Q9Y5S9-1", "protein_xref_mim", "605313", "gene" ], [ "Q9Y5S9-1", "protein_xref_mim", "274000", "phenotype" ], [ "P19075-1", "protein_xref_mim", "600769", "gene" ], [ "Q99519-1", "protein_xref_mim", "256550", "phenotype" ], [ "Q99519-1", "protein_xref_mim", "608272", "gene" ], [ "Q96RU7-1", "protein_xref_mim", "607898", "gene" ], [ "Q96RU3-1", "protein_xref_mim", "606191", "gene" ], [ "Q96RU2-1", "protein_xref_mim", "610748", "gene" ], [ "Q96RU8-1", "protein_xref_mim", "609461", "gene" ], [ "Q6ZRV2-1", "protein_xref_mim", "130900", "phenotype" ], [ "Q6ZRV2-1", "protein_xref_mim", "611927", "gene" ], [ "P16520-1", "protein_xref_mim", "139130", "gene" ], [ "P16520-1", "protein_xref_mim", "617024", "phenotype" ], [ "Q9Y296-1", "protein_xref_mim", "610971", "gene" ], [ "Q9Y296-1", "protein_xref_mim", "618741", "phenotype" ], [ "Q9Y297-1", "protein_xref_mim", "603482", "gene" ], [ "Q9Y294-1", "protein_xref_mim", "609189", "gene" ], [ "Q9Y295-1", "protein_xref_mim", "603952", "gene" ], [ "Q6ICB4-1", "protein_xref_mim", "614240", "gene" ], [ "Q6ICB0-1", "protein_xref_mim", "614637", "gene" ], [ "P17693-1", "protein_xref_mim", "142871", "gene" ], [ "O00507-1", "protein_xref_mim", "415000", "phenotype" ], [ "O00507-1", "protein_xref_mim", "400005", "gene" ], [ "O00505-1", "protein_xref_mim", "601892", "gene" ], [ "O00505-1", "protein_xref_mim", "620106", "phenotype" ], [ "O00501-1", "protein_xref_mim", "602101", "gene" ], [ "Q8IYD2-1", "protein_xref_mim", "614503", "gene" ], [ "Q8IYD1-1", "protein_xref_mim", "300418", "gene" ], [ "Q8IYD9-1", "protein_xref_mim", "613258", "gene" ], [ "Q8IYD8-1", "protein_xref_mim", "609644", "gene" ], [ "Q8IYD8-1", "protein_xref_mim", "618086", "phenotype" ], [ "Q8IYD8-1", "protein_xref_mim", "618096", "phenotype" ], [ "Q9H0H3-1", "protein_xref_mim", "619893", "gene" ], [ "Q8IVD9-1", "protein_xref_mim", "610296", "gene" ], [ "P24903-1", "protein_xref_mim", "124070", "gene" ], [ "Q8N7C0-1", "protein_xref_mim", "615218", "gene" ], [ "Q9NV29-1", "protein_xref_mim", "616334", "gene" ], [ "Q9UQ26-6", "protein_xref_mim", "606630", "gene" ], [ "Q9UQ26-6", "protein_xref_mim", "618970", "phenotype" ], [ "Q5HYW2-1", "protein_xref_mim", "301093", "gene" ], [ "Q9Y5J9-1", "protein_xref_mim", "606659", "gene" ], [ "P45984-1", "protein_xref_mim", "602896", "gene" ], [ "Q7Z5G4-1", "protein_xref_mim", "609453", "gene" ], [ "Q9Y5J6-1", "protein_xref_mim", "607388", "gene" ], [ "Q9Y5J7-1", "protein_xref_mim", "607384", "gene" ], [ "P27469-1", "protein_xref_mim", "614447", "gene" ], [ "Q9H239-1", "protein_xref_mim", "608417", "gene" ], [ "Q9H237-1", "protein_xref_mim", "300651", "gene" ], [ "Q9H237-1", "protein_xref_mim", "305600", "phenotype" ], [ "Q8NEQ6-1", "protein_xref_mim", "619448", "gene" ], [ "Q9H7J1-1", "protein_xref_mim", "619540", "gene" ], [ "O60830-1", "protein_xref_mim", "300249", "gene" ], [ "O60831-1", "protein_xref_mim", "300840", "gene" ], [ "O60832-1", "protein_xref_mim", "300126", "gene" ], [ "O60832-1", "protein_xref_mim", "305000", "phenotype" ], [ "O14579-1", "protein_xref_mim", "606942", "gene" ], [ "Q7LDG7-1", "protein_xref_mim", "605577", "gene" ], [ "Q7LDG7-1", "protein_xref_mim", "615888", "phenotype" ], [ "P17900-1", "protein_xref_mim", "272750", "phenotype" ], [ "P17900-1", "protein_xref_mim", "613109", "gene" ], [ "Q9NPI9-1", "protein_xref_mim", "605722", "gene" ], [ "Q9NPI9-1", "protein_xref_mim", "619406", "phenotype" ], [ "Q9NPI8-1", "protein_xref_mim", "603467", "phenotype" ], [ "Q9NPI8-1", "protein_xref_mim", "613897", "gene" ], [ "Q9NPI5-1", "protein_xref_mim", "608705", "gene" ], [ "Q9NPI6-1", "protein_xref_mim", "607010", "gene" ], [ "Q9NPI1-1", "protein_xref_mim", "618489", "gene" ] ] }, "readme": "Name\n - Human UniProtKB Xref OMIM\n\nVersion\n - v-2.2.1\n\nCreated on\n - 2019-01-23T17:21:05.959744\n\nModified on\n - 2022-09-26T08:56:48.481082\n\nCreated by\n - Jeet Vora [jeetvora@gwu.edu], Robel Kahsay [rykahsay@gwu.edu], Karina Martinez [karinamartinez@gwu.edu], Jingyue Wu [jingyue.wu@email.gwu.edu]\n\nAuthors\n - Maria Martin [martin@ebi.ac.uk], Preethi Vasudev [pvasudev@ebi.ac.uk]\n\nChecksum\n - \n\nUsability Domain\n - The Human UniprotKB Xref OMIM contains human [taxid:9606] UniProtKB canonical accessions cross-referenced to OMIM database accessions/identifiers. The dataset is derived from 2019-09 UniProtKB release. If you use this dataset please provide proper attribution to EMBL-EBI-UniProtKB and GlyGen\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\nDescription Domain\n Keywords\n - phenotype\n - genotype\n - OMIM\n - cross-reference\n\n Pipeline Steps\n - Step-1: The script loads the UniProtKB canonical accessions that are cross-referenced to OMIM database accessions/identifiers from the triplestore containing triples from nt file and extracts the data as a csv dataset. \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: uniprot-proteome-homo-sapiens.nt\n URI: https:/data.glygen.org/ln2downloads/ebi/2023_10_30/uniprot-proteome-homo-sapiens.nt\n Output Subdomain\n Name: human_protein_xref_mim.csv\n URI: https:/data.glygen.org/ln2releases/data/v-2.2.1/reviewed/human_protein_xref_mim.csv\n Name: human_protein_xref_mim.stat.csv\n URI: https:/data.glygen.org/ln2releases/data/v-2.2.1/reviewed/human_protein_xref_mim.stat.csv\n\nFields\n Name: \"uniprotkb_canonical_ac\"\n Description: \"\"\n Unique Values: \"15931\"\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: \"22414\"\n Name: \"xref_label\"\n Description: \"Label/Name associated with x-ref\"\n Unique Values: \"3\"", "downloadurl": "/ln2data/releases/data/v-2.2.1/reviewed/human_protein_xref_mim.csv" }