{ "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", "tags": "Omim cross-references", "file_type": "csv", "status": "Reviewed", "scope": "internal" }, "minitable": { "content": [ [ "Q8TBF5-1...", "610276..." ], [ "Q8TBF4-1...", "610750..." ] ], "headers": [ "uniprotkb_ca...", "database_id..." ], "colwidth": [ "40%", "20%" ] }, "sampledata": { "type": "table", "data": [ [ { "type": "string", "label": "uniprotkb_canonical_ac" }, { "type": "string", "label": "database_id" }, { "type": "string", "label": "database_label" } ], [ "Q8TBF5-1", "610276", "gene" ], [ "Q8TBF4-1", "610750", "gene" ], [ "Q9NQ79-1", "606276", "gene" ], [ "Q9NRQ5-1", "609477", "gene" ], [ "P30613-1", "102900", "phenotype" ], [ "P30613-1", "266200", "phenotype" ], [ "P30613-1", "609712", "gene" ], [ "Q5H9L4-1", "300314", "gene" ], [ "Q9BZL4-1", "613245", "gene" ], [ "Q9NVL1-1", "616124", "gene" ], [ "P20930-1", "135940", "gene" ], [ "P20930-1", "146700", "phenotype" ], [ "P20930-1", "605803", "phenotype" ], [ "P20933-1", "208400", "phenotype" ], [ "P20933-1", "613228", "gene" ], [ "P20936-1", "139150", "gene" ], [ "P20936-1", "608354", "phenotype" ], [ "Q8NFX7-1", "607958", "gene" ], [ "Q9UM21-1", "604623", "gene" ], [ "P83859-1", "609795", "gene" ], [ "P40617-1", "604786", "gene" ], [ "Q15573-1", "604903", "gene" ], [ "Q15572-1", "604905", "gene" ], [ "Q9H999-1", "606161", "gene" ], [ "P23919-1", "188345", "gene" ], [ "Q8NHX9-1", "612163", "gene" ], [ "Q8NHX9-1", "612267", "phenotype" ], [ "A8MU46-1", "613664", "gene" ], [ "Q9NXR8-1", "275355", "phenotype" ], [ "Q9NXR8-1", "607493", "gene" ], [ "Q9C0H2-1", "608919", "gene" ], [ "Q9C0H5-1", "615880", "gene" ], [ "Q9C0H6-1", "300348", "gene" ], [ "Q9C0H9-5", "610786", "gene" ], [ "Q9NXR1-2", "605013", "phenotype" ], [ "Q9NXR1-2", "609449", "gene" ], [ "Q9NXR1-2", "614019", "phenotype" ], [ "Q00537-1", "603440", "gene" ], [ "Q00536-1", "311550", "gene" ], [ "Q00532-1", "603441", "gene" ], [ "Q96J66-1", "117800", "phenotype" ], [ "Q96J66-1", "607040", "gene" ], [ "O00244-1", "602270", "gene" ], [ "Q9UBM8-1", "607385", "gene" ], [ "Q9H2V7-1", "612583", "gene" ], [ "O00241-1", "603889", "gene" ], [ "O00716-1", "600427", "gene" ], [ "Q8IX01-1", "607993", "gene" ], [ "Q9UBM1-1", "602391", "gene" ], [ "Q9UBM4-1", "605127", "gene" ], [ "P24522-1", "126335", "gene" ], [ "Q13835-1", "601975", "gene" ], [ "Q13835-1", "604536", "phenotype" ], [ "A0AVF1-1", "617453", "gene" ], [ "P40424-1", "176310", "gene" ], [ "P40424-1", "617641", "phenotype" ], [ "P40425-1", "176311", "gene" ], [ "P09001-1", "607118", "gene" ], [ "P09001-1", "614582", "phenotype" ], [ "Q8IZK6-1", "607399", "gene" ], [ "P51991-1", "605372", "gene" ], [ "Q13838-1", "142560", "gene" ], [ "O00337-1", "606207", "gene" ], [ "Q8TDW7-3", "612483", "gene" ], [ "Q5M775-1", "608793", "gene" ], [ "Q8WTV0-1", "601040", "gene" ], [ "Q8WTV0-1", "610762", "phenotype" ], [ "Q9H2I8-1", "614537", "gene" ], [ "Q9H2I8-1", "615179", "phenotype" ], [ "P08842-1", "300747", "gene" ], [ "P08842-1", "308100", "phenotype" ], [ "P03891-1", "502500", "phenotype" ], [ "P03891-1", "516001", "gene" ], [ "P03891-1", "535000", "phenotype" ], [ "P48960-1", "601211", "gene" ], [ "P03897-1", "256000", "phenotype" ], [ "P03897-1", "516002", "gene" ], [ "P03897-1", "500014", "phenotype" ], [ "P02768-1", "103600", "gene" ], [ "P02768-1", "615999", "phenotype" ], [ "P02768-1", "616000", "phenotype" ], [ "P20645-1", "154540", "gene" ], [ "P05386-1", "180520", "gene" ], [ "P05387-1", "180530", "gene" ] ] }, "readme": "Name\n - Human UniProtKB Xref OMIM\n\nVersion\n - 1.5.23\n\nCreated on\n - 2019-01-23T17:21:05.959744\n\nModified on\n - 2020-04-10T11:36:17.219338\n\nCreated by\n - Jeet Vora [jeetvora@gwu.edu], Rahi Navelkar [rsn13@gwu.edu], Robel Kahsay [rykahsay@gwu.edu], Xavier Holmes [xavierh@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/GW-HIVE/glygen-backend-integration/blob/master/pipeline/integrator/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/ln2wwwdata/source/uniprot-proteome-homo-sapiens.nt\n Name: human_protein_masterlist.csv\n URI: https://data.glygen.org/ln2wwwdata/reviewed/human_protein_masterlist.csv\n Output Subdomain\n Name: human_protein_xref_mim.csv\n URI: http://data.glygen.org/ln2wwwdata/reviewed/human_protein_xref_mim.csv\n Name: human_protein_xref_mim.stat.csv\n URI: http://data.glygen.org/ln2wwwdata/reviewed/human_protein_xref_mim.stat.csv\n\nFields\n Name: \"uniprotkb_canonical_ac\"\n Description: \"Accession assigned to the protein isoform chosen to be the canonical sequence to which all positional annotation refers in UniProtKB database\"\n Unique Values: \"15090\"\n Name: \"database_label\"\n Description: \"Label or name assigned to the corresponding identifier in the source database\"\n Unique Values: \"3\"\n Name: \"database_id\"\n Description: \"Identifier in the database\"\n Unique Values: \"20565\"", "downloadurl": "/ln2data/releases/data/v-1.5.23/reviewed/human_protein_xref_mim.csv" }