EBI Gene2Phenotype KG
An ingest of EMBL-EBI's Gene2Phenotype resource, for Translator use (output in Translator standards and NodeNormed, using own custom pipeline)
[{"category": "Individual", "contact_details": [{"contact_type": "email", "value": "colxu@scripps.edu"}, {"contact_type": "github", "value": "colleenXu"}], "label": "Colleen Xu"}]
[{"category": "GraphProduct", "description": "KGX nodes file for EBI Gene2Phenotype KG", "format": "kgx-jsonl", "id": "kg-ebi-gene2pheno.nodes.kgx", "name": "EBI gene2pheno KGX nodes", "original_source": [{"relation_type": "prov:hadPrimarySource", "source": "kg-ebi-gene2pheno"}, {"relation_type": "prov:hadPrimarySource", "source": "gene2phenotype"}, {"relation_type": "prov:wasDerivedFrom", "source": "hgnc"}, {"relation_type": "prov:wasDerivedFrom", "source": "omim"}, {"relation_type": "prov:wasDerivedFrom", "source": "orphanet"}], "product_file_size": 62139, "product_url": "https://github.com/biothings/pending.api/blob/translator-output/plugins/ebi_gene2phenotype/EBIgene2pheno_kgx_nodes.jsonl"}, {"category": "GraphProduct", "description": "KGX edges file for EBI Gene2Phenotype KG", "format": "kgx-jsonl", "id": "kg-ebi-gene2pheno.edges.kgx", "name": "EBI gene2pheno KGX edges", "original_source": [{"relation_type": "prov:hadPrimarySource", "source": "kg-ebi-gene2pheno"}, {"relation_type": "prov:hadPrimarySource", "source": "gene2phenotype"}, {"relation_type": "prov:wasDerivedFrom", "source": "hgnc"}, {"relation_type": "prov:wasDerivedFrom", "source": "omim"}, {"relation_type": "prov:wasDerivedFrom", "source": "orphanet"}], "product_file_size": 133106, "product_url": "https://github.com/biothings/pending.api/blob/translator-output/plugins/ebi_gene2phenotype/EBIgene2pheno_kgx_edges.jsonl"}, {"category": "GraphProduct", "description": "TRAPI edges file for EBI Gene2Phenotype KG", "format": "trapi-jsonl", "id": "kg-ebi-gene2pheno.edges.trapi", "name": "EBI gene2pheno TRAPI edges", "original_source": [{"relation_type": "prov:hadPrimarySource", "source": "kg-ebi-gene2pheno"}, {"relation_type": "prov:hadPrimarySource", "source": "gene2phenotype"}, {"relation_type": "prov:wasDerivedFrom", "source": "hgnc"}, {"relation_type": "prov:wasDerivedFrom", "source": "omim"}, {"relation_type": "prov:wasDerivedFrom", "source": "orphanet"}], "product_file_size": 142045, "product_url": "https://github.com/biothings/pending.api/blob/translator-output/plugins/ebi_gene2phenotype/EBIgene2pheno_trapi_edges.jsonl"}]
{"activity_status": "active", "category": "KnowledgeGraph", "collection": ["translator"], "contacts": [{"category": "Individual", "contact_details": [{"contact_type": "email", "value": "colxu@scripps.edu"}, {"contact_type": "github", "value": "colleenXu"}], "label": "Colleen Xu"}], "creation_date": "2025-05-07T00:00:00Z", "description": "An ingest of EMBL-EBI's Gene2Phenotype resource, for Translator use (output in Translator standards and NodeNormed, using own custom pipeline)", "domains": ["biomedical"], "evaluation_page": "resource/kg-ebi-gene2pheno/kg-ebi-gene2pheno_eval_automated.html", "homepage_url": "https://www.ebi.ac.uk/gene2phenotype/", "id": "kg-ebi-gene2pheno", "last_modified_date": "2026-06-18T00:00:00Z", "layout": "resource_detail", "license": {"id": "https://www.ebi.ac.uk/about/terms-of-use/", "label": "EMBL-EBI Terms of Use"}, "name": "EBI Gene2Phenotype KG", "products": [{"category": "GraphProduct", "description": "KGX nodes file for EBI Gene2Phenotype KG", "format": "kgx-jsonl", "id": "kg-ebi-gene2pheno.nodes.kgx", "name": "EBI gene2pheno KGX nodes", "original_source": [{"relation_type": "prov:hadPrimarySource", "source": "kg-ebi-gene2pheno"}, {"relation_type": "prov:hadPrimarySource", "source": "gene2phenotype"}, {"relation_type": "prov:wasDerivedFrom", "source": "hgnc"}, {"relation_type": "prov:wasDerivedFrom", "source": "omim"}, {"relation_type": "prov:wasDerivedFrom", "source": "orphanet"}], "product_file_size": 62139, "product_url": "https://github.com/biothings/pending.api/blob/translator-output/plugins/ebi_gene2phenotype/EBIgene2pheno_kgx_nodes.jsonl"}, {"category": "GraphProduct", "description": "KGX edges file for EBI Gene2Phenotype KG", "format": "kgx-jsonl", "id": "kg-ebi-gene2pheno.edges.kgx", "name": "EBI gene2pheno KGX edges", "original_source": [{"relation_type": "prov:hadPrimarySource", "source": "kg-ebi-gene2pheno"}, {"relation_type": "prov:hadPrimarySource", "source": "gene2phenotype"}, {"relation_type": "prov:wasDerivedFrom", "source": "hgnc"}, {"relation_type": "prov:wasDerivedFrom", "source": "omim"}, {"relation_type": "prov:wasDerivedFrom", "source": "orphanet"}], "product_file_size": 133106, "product_url": "https://github.com/biothings/pending.api/blob/translator-output/plugins/ebi_gene2phenotype/EBIgene2pheno_kgx_edges.jsonl"}, {"category": "GraphProduct", "description": "TRAPI edges file for EBI Gene2Phenotype KG", "format": "trapi-jsonl", "id": "kg-ebi-gene2pheno.edges.trapi", "name": "EBI gene2pheno TRAPI edges", "original_source": [{"relation_type": "prov:hadPrimarySource", "source": "kg-ebi-gene2pheno"}, {"relation_type": "prov:hadPrimarySource", "source": "gene2phenotype"}, {"relation_type": "prov:wasDerivedFrom", "source": "hgnc"}, {"relation_type": "prov:wasDerivedFrom", "source": "omim"}, {"relation_type": "prov:wasDerivedFrom", "source": "orphanet"}], "product_file_size": 142045, "product_url": "https://github.com/biothings/pending.api/blob/translator-output/plugins/ebi_gene2phenotype/EBIgene2pheno_trapi_edges.jsonl"}], "publications": [{"authors": ["T Michael Yates", "Morad Ansari", "Louise Thompson", "Sarah E Hunt", "Elena Cibrian Uhalte", "Rachel J Hobson", "Joseph A Marsh", "Caroline F Wright", "Helen V Firth"], "doi": "10.1186/s13073-024-01398-1", "id": "https://www.ncbi.nlm.nih.gov/pubmed/39506859", "journal": "Genome Medicine", "preferred": true, "title": "Curating genomic disease-gene relationships with Gene2Phenotype (G2P)", "year": "2024"}, {"authors": ["Anja Thormann", "Mihail Halachev", "William McLaren", "David J Moore", "Victoria Svinti", "Archie Campbell", "Shona M Kerr", "Marc Tischkowitz", "Sarah E Hunt", "Malcolm G Dunlop", "Matthew E Hurles", "Caroline F Wright", "Helen V Firth", "Fiona Cunningham", "David R FitzPatrick"], "doi": "10.1038/s41467-019-10016-3", "id": "https://www.ncbi.nlm.nih.gov/pubmed/31147538", "journal": "Nature Communications", "title": "Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP", "year": "2019"}], "repository": "https://github.com/biothings/pending.api/tree/translator-output/plugins/ebi_gene2phenotype"}