{ "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": [ [ "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" ], [ "P23919-1", "protein_xref_mim", "188345", "gene" ], [ "Q8NHX9-1", "protein_xref_mim", "612163", "gene" ], [ "Q8NHX9-1", "protein_xref_mim", "612267", "phenotype" ], [ "Q9C0H2-1", "protein_xref_mim", "608919", "gene" ], [ "Q9C0H5-1", "protein_xref_mim", "615880", "gene" ], [ "Q9C0H6-1", "protein_xref_mim", "300348", "gene" ], [ "Q9C0H9-5", "protein_xref_mim", "610786", "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" ], [ "Q9H2I8-1", "protein_xref_mim", "614537", "gene" ], [ "Q9H2I8-1", "protein_xref_mim", "615179", "phenotype" ], [ "P03891-1", "protein_xref_mim", "502500", "phenotype" ], [ "P03891-1", "protein_xref_mim", "516001", "gene" ], [ "P03891-1", "protein_xref_mim", "535000", "phenotype" ], [ "P03897-1", "protein_xref_mim", "256000", "phenotype" ], [ "P03897-1", "protein_xref_mim", "516002", "gene" ], [ "P03897-1", "protein_xref_mim", "500014", "phenotype" ], [ "P02768-1", "protein_xref_mim", "103600", "gene" ], [ "P02768-1", "protein_xref_mim", "615999", "phenotype" ], [ "P02768-1", "protein_xref_mim", "616000", "phenotype" ], [ "P02760-1", "protein_xref_mim", "176870", "gene" ], [ "P02763-1", "protein_xref_mim", "138600", "gene" ], [ "P02765-1", "protein_xref_mim", "203650", "phenotype" ], [ "P02765-1", "protein_xref_mim", "138680", "gene" ], [ "P82921-1", "protein_xref_mim", "611984", "gene" ], [ "P02766-1", "protein_xref_mim", "105210", "phenotype" ], [ "P02766-1", "protein_xref_mim", "115430", "phenotype" ], [ "P02766-1", "protein_xref_mim", "145680", "phenotype" ], [ "P02766-1", "protein_xref_mim", "176300", "gene" ], [ "Q9P2J5-1", "protein_xref_mim", "151350", "gene" ], [ "Q9P2J5-1", "protein_xref_mim", "615438", "phenotype" ], [ "O43399-1", "protein_xref_mim", "603747", "gene" ], [ "Q9BXR3-1", "protein_xref_mim", "605626", "gene" ], [ "Q9BXR3-1", "protein_xref_mim", "605626", "gene" ], [ "Q9BZG1-1", "protein_xref_mim", "610917", "gene" ], [ "Q9BZG2-1", "protein_xref_mim", "606362", "gene" ], [ "Q9BZG2-1", "protein_xref_mim", "617297", "phenotype" ], [ "Q9BZG8-1", "protein_xref_mim", "603527", "gene" ], [ "Q9BZG8-1", "protein_xref_mim", "616901", "phenotype" ], [ "Q6NUK4-1", "protein_xref_mim", "609348", "gene" ], [ "P01236-1", "protein_xref_mim", "176760", "gene" ], [ "Q8N865-1", "protein_xref_mim", "616071", "gene" ], [ "P09001-1", "protein_xref_mim", "607118", "gene" ], [ "P09001-1", "protein_xref_mim", "614582", "phenotype" ], [ "P53708-1", "protein_xref_mim", "191830", "phenotype" ], [ "P53708-1", "protein_xref_mim", "604063", "gene" ], [ "Q14568-1", "protein_xref_mim", "140575", "gene" ], [ "Q14563-1", "protein_xref_mim", "603961", "gene" ], [ "Q14563-1", "protein_xref_mim", "614897", "phenotype" ], [ "Q14562-1", "protein_xref_mim", "600396", "gene" ], [ "Q14566-1", "protein_xref_mim", "223100", "phenotype" ], [ "Q14566-1", "protein_xref_mim", "601806", "gene" ], [ "Q14565-1", "protein_xref_mim", "602721", "gene" ], [ "Q6ZMG9-1", "protein_xref_mim", "615336", "gene" ], [ "Q86VY4-1", "protein_xref_mim", "614721", "gene" ], [ "P19075-1", "protein_xref_mim", "600769", "gene" ], [ "O60729-1", "protein_xref_mim", "603505", "gene" ], [ "A6NCL1-1", "protein_xref_mim", "614448", "gene" ], [ "Q8WUF5-1", "protein_xref_mim", "607463", "gene" ], [ "Q96BT3-1", "protein_xref_mim", "611510", "gene" ], [ "Q96BT3-1", "protein_xref_mim", "618702", "phenotype" ], [ "Q96BT7-1", "protein_xref_mim", "613306", "gene" ], [ "Q96BT7-1", "protein_xref_mim", "618504", "phenotype" ], [ "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" ], [ "Q9ULV4-1", "protein_xref_mim", "605269", "gene" ], [ "Q9Y5A7-1", "protein_xref_mim", "607981", "gene" ], [ "Q13643-1", "protein_xref_mim", "602790", "gene" ], [ "Q13642-2", "protein_xref_mim", "300163", "gene" ], [ "Q13642-2", "protein_xref_mim", "300695", "phenotype" ], [ "Q13642-2", "protein_xref_mim", "300696", "phenotype" ], [ "Q13642-2", "protein_xref_mim", "300717", "phenotype" ] ] }, "readme": "Name\n - Human UniProtKB Xref OMIM\n\nVersion\n - 1.9.9\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: \"\"\n Unique Values: \"1\"\n Name: \"xref_id\"\n Description: \"ID of the X-ref\"\n Unique Values: \"1\"\n Name: \"title\"\n Description: \"Title of the published article in the journal\"\n Unique Values: \"1\"\n Name: \"src_xref_key\"\n Description: \"Source Xref key\"\n Unique Values: \"1\"\n Name: \"src_xref_id\"\n Description: \"Source X-ref ID\"\n Unique Values: \"1\"\n Name: \"journal_name\"\n Description: \"The name of the journal in which the article is published\"\n Unique Values: \"1\"\n Name: \"authors\"\n Description: \"NA\"\n Unique Values: \"1\"\n Name: \"publication_date\"\n Description: \"Contains the full date on which the issue of the journal was published. Sourced from MEDLINE/PubMed data element(fields) description.\"\n Unique Values: \"1\"\n Name: \"xref_key\"\n Description: \"Source key associated to the xref_id\"\n Unique Values: \"1\"", "downloadurl": "/ln2data/releases/data/v-1.9.9/reviewed/human_protein_xref_mim.csv" }