{
"@context": "/terms/",
"@id": "/curated-sets/IGVFDS1193SOYF/",
"@type": [
"CuratedSet",
"FileSet",
"Item"
],
"accession": "IGVFDS1193SOYF",
"aliases": [
"igvf:igvf_catalog_beta_v0.1_orphanet"
],
"assemblies": [
"GRCh38"
],
"audit": {},
"award": {
"@id": "/awards/Community/",
"title": "Community"
},
"collections": [
"IGVF_catalog_beta_v0.3",
"IGVF_catalog_beta_v0.1",
"IGVF_catalog_beta_v0.2"
],
"control_for": [],
"creation_timestamp": "2023-10-17T19:38:13.599302+00:00",
"description": "Orphanet disease genes collection",
"file_set_type": "external data for catalog",
"files": [
{
"@id": "/reference-files/IGVFFI4540ZCXZ/",
"accession": "IGVFFI4540ZCXZ",
"assembly": "GRCh38",
"content_type": "diseases_genes",
"creation_timestamp": "2023-10-17T19:42:25.083817+00:00",
"file_format": "xml",
"file_size": 1384849,
"href": "/reference-files/IGVFFI4540ZCXZ/@@download/IGVFFI4540ZCXZ.xml.gz",
"s3_uri": "s3://igvf-files/2023/10/17/c9d67c6b-c733-41dc-87df-bfc379a3ff2f/IGVFFI4540ZCXZ.xml.gz",
"submitted_file_name": "en_product6.xml.gz",
"upload_status": "validated"
}
],
"input_for": [],
"lab": {
"@id": "/labs/community/",
"title": "External Lab, Community"
},
"notes": "https://igvf.atlassian.net/browse/DSERV-178. This file set was moved from the Cherry lab and award to a community lab and award.",
"release_timestamp": "2023-12-07T06:00:12.787414+00:00",
"schema_version": "8",
"status": "released",
"submitted_by": {
"@id": "/users/6bae687f-b77a-46b9-af0e-a02c135cf42e/",
"title": "Meenakshi Kagda"
},
"submitted_files_timestamp": "2023-10-17T19:42:25.083817+00:00",
"summary": "Homo sapiens GRCh38 external data for catalog",
"taxa": "Homo sapiens",
"url": "https://www.orphadata.com/genes/",
"uuid": "e4190fda-a9d0-4991-af77-22ce809f24be"
}