view test-data/diseases-for-genotype.json @ 0:028a3ffc17b4 draft

planemo upload commit b095175f34e78ceded24a6e1da99b328f50db86d

{"associations": [{"subject_extension": null, "slim": null, "publications": null, "object": {"xrefs": null, "taxon": {"label": null, "id": null}, "types": null, "categories": null, "replaced_by": null, "synonyms": null, "label": "Breast-Ovarian Cancer, Familial, Susceptibility To, 1", "deprecated": null, "id": "OMIM:604370", "description": null, "consider": null}, "id": "f29a7b3f-b587-4133-9459-5a51a0a07097", "type": null, "evidence_graph": {"nodes": [{"lbl": "BRCA1(ARG1443TER) [GM14637]", "id": "dbSNPIndividual:12141"}, {"lbl": null, "id": "MONARCH:60c9082f6214355293ebe52575d8952c8c61cc7e"}, {"lbl": "affected female proband with Breast cancer information core (bic) brca1/brca2 mutation panel dna samples", "id": ":.well-known/genid/person-GM14637"}, {"lbl": "Breast-Ovarian Cancer, Familial, Susceptibility To, 1", "id": "OMIM:604370"}], "edges": [{"sub": ":.well-known/genid/person-GM14637", "pred": "RO:0002200", "obj": "OMIM:604370"}, {"sub": ":.well-known/genid/person-GM14637", "pred": "GENO:0000222", "obj": "dbSNPIndividual:12141"}, {"sub": "MONARCH:60c9082f6214355293ebe52575d8952c8c61cc7e", "pred": "OBAN:association_has_object", "obj": "OMIM:604370"}, {"sub": "MONARCH:60c9082f6214355293ebe52575d8952c8c61cc7e", "pred": "OBAN:association_has_subject", "obj": ":.well-known/genid/person-GM14637"}]}, "subject": {"xrefs": null, "taxon": {"label": "Homo sapiens", "id": "NCBITaxon:9606"}, "types": null, "categories": null, "replaced_by": null, "synonyms": null, "label": "BRCA1(ARG1443TER) [GM14637]", "deprecated": null, "id": "dbSNPIndividual:12141", "description": null, "consider": null}, "provided_by": ["http://data.monarchinitiative.org/ttl/coriell.ttl"], "relation": {"types": null, "categories": null, "replaced_by": null, "synonyms": null, "label": "has phenotype", "deprecated": null, "id": "RO:0002200", "description": null, "consider": null}, "qualifiers": null, "object_extension": null, "evidence_types": null}], "compact_associations": null, "objects": ["OMIM:604370"], "start": null, "numFound": null, "facet_pivot": null, "facet_counts": {"subject_taxon_label": {"Homo sapiens": 1}, "object_closure": {"BFO:0000020": 1, "DOID:162": 1, "DOID:229": 1, "DOID:0050736": 1, "DOID:16": 1, "DOID:193": 1, "DOID:0050739": 1, "DOID:120": 1, "DOID:0050686": 1, "BFO:0000016": 1, "DOID:14566": 1, "BFO:0000002": 1, "DOID:15": 1, "DOID:0060118": 1, "DOID:0050177": 1, "DC:0000638": 1, "DOID:28": 1, "DOID:1100": 1, "BFO:0000001": 1, "DOID:1612": 1, "DOID:2394": 1, "DOID:37": 1, "BFO:0000017": 1, "DOID:2277": 1, "DOID:3463": 1}}}