Mercurial > repos > nathandunn > biolinkplanteome
comparison test-data/diseases-for-gene.json @ 0:028a3ffc17b4 draft
planemo upload commit b095175f34e78ceded24a6e1da99b328f50db86d
author | nathandunn |
---|---|
date | Fri, 23 Jun 2017 15:04:12 -0400 |
parents | |
children | 66ece4fd024f |
comparison
equal
deleted
inserted
replaced
-1:000000000000 | 0:028a3ffc17b4 |
---|---|
1 {"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": "Short-rib thoracic dysplasia 3 with or without polydactyly", "deprecated": null, "id": "OMIM:613091", "description": null, "consider": null}, "id": "fce3ca13-eb68-4182-ae97-2e42af7a4b28", "type": null, "evidence_graph": {"nodes": [{"lbl": "Short-rib thoracic dysplasia 3 with or without polydactyly", "id": "OMIM:613091"}, {"lbl": "NM_001199397.1(NEK1):c.1690_1691delAT (p.Met564Valfs)", "id": "ClinVarVariant:191325"}, {"lbl": "NEK1", "id": "NCBIGene:4750"}, {"lbl": "NM_001199397.1(NEK1):c.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}]}, "subject": {"xrefs": null, "taxon": {"label": "Homo sapiens", "id": "NCBITaxon:9606"}, "types": null, "categories": null, "replaced_by": null, "synonyms": null, "label": "NEK1", "deprecated": null, "id": "NCBIGene:4750", "description": null, "consider": null}, "provided_by": ["http://data.planteomeinitiative.org/ttl/clinvar.ttl"], "relation": {"types": null, "categories": null, "replaced_by": null, "synonyms": null, "label": null, "deprecated": null, "id": null, "description": null, "consider": null}, "qualifiers": null, "object_extension": null, "evidence_types": null}, {"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": "Short rib-polydactyly syndrome", "deprecated": null, "id": "KEGG-ds:H00511", "description": null, "consider": null}, "id": "42124813-00e2-4be5-89f7-3170687ec42c", "type": null, "evidence_graph": {"nodes": [{"lbl": "Short rib-polydactyly syndrome", "id": "KEGG-ds:H00511"}, {"lbl": null, "id": "planteome:e199fb9f97b08b3e52f499869eba0789a15aa2d8"}, {"lbl": "NEK1", "id": "NCBIGene:4750"}, {"lbl": "some variant of K08857 NIMA (never in mitosis gene a)-related kinase 1/4/5 [EC:2.7.11.1] | (RefSeq) NEK1 that is associated with Short rib-polydactyly syndrome", "id": ":.well-known/genid/KEGG-hsa4750-KEGG-dsH00511VL"}], "edges": [{"sub": ":.well-known/genid/KEGG-hsa4750-KEGG-dsH00511VL", "pred": "RO:0002607", "obj": "KEGG-ds:H00511"}, {"sub": "planteome:e199fb9f97b08b3e52f499869eba0789a15aa2d8", "pred": "OBAN:association_has_subject", "obj": ":.well-known/genid/KEGG-hsa4750-KEGG-dsH00511VL"}, {"sub": "planteome:e199fb9f97b08b3e52f499869eba0789a15aa2d8", "pred": "OBAN:association_has_object", "obj": "KEGG-ds:H00511"}, {"sub": ":.well-known/genid/KEGG-hsa4750-KEGG-dsH00511VL", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}]}, "subject": {"xrefs": null, "taxon": {"label": "Homo sapiens", "id": "NCBITaxon:9606"}, "types": null, "categories": null, "replaced_by": null, "synonyms": null, "label": "NEK1", "deprecated": null, "id": "NCBIGene:4750", "description": null, "consider": null}, "provided_by": ["https://data.planteomeinitiative.org/ttl/kegg.ttl"], "relation": {"types": null, "categories": null, "replaced_by": null, "synonyms": null, "label": null, "deprecated": null, "id": null, "description": null, "consider": null}, "qualifiers": null, "object_extension": null, "evidence_types": null}, {"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": "short-rib thoracic dysplasia 6 with or without polydactyly", "deprecated": null, "id": "OMIM:263520", "description": null, "consider": null}, "id": "dc8ebdb0-af8b-4c0d-9207-7b0e6a5332dc", "type": null, "evidence_graph": {"nodes": [{"lbl": "some variant of K08857 NIMA (never in mitosis gene a)-related kinase 1/4/5 [EC:2.7.11.1] | (RefSeq) NEK1", "id": ":.well-known/genid/KEGG-hsa4750-OMIM263520VL"}, {"lbl": "some variant of NEK1 that causes Short-rib thoracic dysplasia 6 with or without polydactyly", "id": ":.well-known/genid/OMIM604588-263520VL"}, {"lbl": "NM_001199397.1(NEK1):c.117+1G>A", "id": "ClinVarVariant:195286"}, {"lbl": "NM_001199397.1(NEK1):c.433G>A (p.Gly145Arg)", "id": "ClinVarVariant:40072"}, {"lbl": "sequencing assay evidence", "id": "ECO:0000220"}, {"lbl": "NM_001199397.1(NEK1):c.869-2A>G", "id": "ClinVarVariant:30429"}, {"lbl": null, "id": "planteome:099ef0113c919cb8b8a105f9ea68911791922c1c"}, {"lbl": "NM_001199397.1(NEK1):c.3107C>G (p.Ser1036Ter)", "id": "ClinVarVariant:208600"}, {"lbl": "NEK1", "id": "NCBIGene:4750"}, {"lbl": "NM_001199397.1(NEK1):c.869-1G>T", "id": "ClinVarVariant:193892"}, {"lbl": "NM_001199397.1(NEK1):c.379C>T (p.Arg127Ter)", "id": "ClinVarVariant:30428"}, {"lbl": "short-rib thoracic dysplasia 6 with or without polydactyly", "id": "OMIM:263520"}, {"lbl": null, "id": "planteome:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b"}], "edges": [{"sub": "ClinVarVariant:40072", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": ":.well-known/genid/KEGG-hsa4750-OMIM263520VL", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": ":.well-known/genid/KEGG-hsa4750-OMIM263520VL", "pred": "RO:0002607", "obj": "OMIM:263520"}, {"sub": "planteome:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "RO:0002558", "obj": "ECO:0000220"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "planteome:099ef0113c919cb8b8a105f9ea68911791922c1c", "pred": "OBAN:association_has_subject", "obj": ":.well-known/genid/KEGG-hsa4750-OMIM263520VL"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "planteome:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_object", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "planteome:099ef0113c919cb8b8a105f9ea68911791922c1c", "pred": "OBAN:association_has_object", "obj": "OMIM:263520"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "RO:0002200", "obj": "OMIM:263520"}, {"sub": "planteome:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_subject", "obj": ":.well-known/genid/OMIM604588-263520VL"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000841", "obj": "OMIM:263520"}]}, "subject": {"xrefs": null, "taxon": {"label": "Homo sapiens", "id": "NCBITaxon:9606"}, "types": null, "categories": null, "replaced_by": null, "synonyms": null, "label": "NEK1", "deprecated": null, "id": "NCBIGene:4750", "description": null, "consider": null}, "provided_by": ["https://data.planteomeinitiative.org/ttl/kegg.ttl", "https://data.planteomeinitiative.org/ttl/omim.ttl", "http://data.planteomeinitiative.org/ttl/clinvar.ttl"], "relation": {"types": null, "categories": null, "replaced_by": null, "synonyms": null, "label": null, "deprecated": null, "id": null, "description": null, "consider": null}, "qualifiers": null, "object_extension": null, "evidence_types": null}, {"subject_extension": null, "slim": null, "publications": [{"types": null, "categories": null, "replaced_by": null, "synonyms": null, "label": null, "deprecated": null, "id": "PMID:26945885", "description": null, "consider": null}, {"types": null, "categories": null, "replaced_by": null, "synonyms": null, "label": null, "deprecated": null, "id": "PMID:27455347", "description": null, "consider": null}], "object": {"xrefs": null, "taxon": {"label": null, "id": null}, "types": null, "categories": null, "replaced_by": null, "synonyms": null, "label": "amyotrophic lateral sclerosis", "deprecated": null, "id": "DOID:332", "description": null, "consider": null}, "id": "22e102cf-e7d5-4770-a516-d39ebd24f898", "type": null, "evidence_graph": {"nodes": [{"lbl": null, "id": "PMID:26945885"}, {"lbl": "NEK1", "id": "NCBIGene:4750"}, {"lbl": null, "id": "PMID:27455347"}, {"lbl": "traceable author statement", "id": "ECO:0000033"}, {"lbl": "amyotrophic lateral sclerosis", "id": "DOID:332"}, {"lbl": null, "id": "planteome:ece9f777ba9bf594477181dd61bdfc45fee070fe"}, {"lbl": "some variant of NEK1 that is marker/mechanism for Amyotrophic Lateral Sclerosis", "id": ":.well-known/genid/NCBIGene4750-MESHD000690VL"}], "edges": [{"sub": "planteome:ece9f777ba9bf594477181dd61bdfc45fee070fe", "pred": "dc:source", "obj": "PMID:26945885"}, {"sub": ":.well-known/genid/NCBIGene4750-MESHD000690VL", "pred": "RO:0002607", "obj": "DOID:332"}, {"sub": "planteome:ece9f777ba9bf594477181dd61bdfc45fee070fe", "pred": "OBAN:association_has_object", "obj": "DOID:332"}, {"sub": ":.well-known/genid/NCBIGene4750-MESHD000690VL", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "planteome:ece9f777ba9bf594477181dd61bdfc45fee070fe", "pred": "dc:source", "obj": "PMID:27455347"}, {"sub": "planteome:ece9f777ba9bf594477181dd61bdfc45fee070fe", "pred": "OBAN:association_has_subject", "obj": ":.well-known/genid/NCBIGene4750-MESHD000690VL"}, {"sub": "planteome:ece9f777ba9bf594477181dd61bdfc45fee070fe", "pred": "RO:0002558", "obj": "ECO:0000033"}]}, "subject": {"xrefs": null, "taxon": {"label": "Homo sapiens", "id": "NCBITaxon:9606"}, "types": null, "categories": null, "replaced_by": null, "synonyms": null, "label": "NEK1", "deprecated": null, "id": "NCBIGene:4750", "description": null, "consider": null}, "provided_by": ["https://data.planteomeinitiative.org/ttl/ctd.ttl"], "relation": {"types": null, "categories": null, "replaced_by": null, "synonyms": null, "label": null, "deprecated": null, "id": null, "description": null, "consider": null}, "qualifiers": null, "object_extension": null, "evidence_types": null}, {"subject_extension": null, "slim": null, "publications": [{"types": null, "categories": null, "replaced_by": null, "synonyms": null, "label": null, "deprecated": null, "id": "PMID:21211617", "description": null, "consider": null}, {"types": null, "categories": null, "replaced_by": null, "synonyms": null, "label": null, "deprecated": null, "id": "PMID:22499340", "description": null, "consider": null}], "object": {"xrefs": null, "taxon": {"label": null, "id": null}, "types": null, "categories": null, "replaced_by": null, "synonyms": null, "label": "Short rib-polydactyly syndrome", "deprecated": null, "id": "Orphanet:1505", "description": null, "consider": null}, "id": "b57279a0-b07c-4ed4-8f97-e05c139070a6", "type": null, "evidence_graph": {"nodes": [{"lbl": "Short rib-polydactyly syndrome", "id": "Orphanet:1505"}, {"lbl": null, "id": "PMID:21211617"}, {"lbl": "NEK1", "id": "NCBIGene:4750"}, {"lbl": null, "id": "PMID:22499340"}, {"lbl": "traceable author statement", "id": "ECO:0000033"}, {"lbl": null, "id": "planteome:883edfad4eca0c94a24779aac623a20b78fac30f"}, {"lbl": "some variant of NEK1 that is marker/mechanism for Short Rib-Polydactyly Syndrome", "id": ":.well-known/genid/NCBIGene4750-MESHD012779VL"}], "edges": [{"sub": "planteome:883edfad4eca0c94a24779aac623a20b78fac30f", "pred": "OBAN:association_has_object", "obj": "Orphanet:1505"}, {"sub": "planteome:883edfad4eca0c94a24779aac623a20b78fac30f", "pred": "OBAN:association_has_subject", "obj": ":.well-known/genid/NCBIGene4750-MESHD012779VL"}, {"sub": "planteome:883edfad4eca0c94a24779aac623a20b78fac30f", "pred": "dc:source", "obj": "PMID:21211617"}, {"sub": "planteome:883edfad4eca0c94a24779aac623a20b78fac30f", "pred": "RO:0002558", "obj": "ECO:0000033"}, {"sub": "planteome:883edfad4eca0c94a24779aac623a20b78fac30f", "pred": "dc:source", "obj": "PMID:22499340"}, {"sub": ":.well-known/genid/NCBIGene4750-MESHD012779VL", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": ":.well-known/genid/NCBIGene4750-MESHD012779VL", "pred": "RO:0002607", "obj": "Orphanet:1505"}]}, "subject": {"xrefs": null, "taxon": {"label": "Homo sapiens", "id": "NCBITaxon:9606"}, "types": null, "categories": null, "replaced_by": null, "synonyms": null, "label": "NEK1", "deprecated": null, "id": "NCBIGene:4750", "description": null, "consider": null}, "provided_by": ["https://data.planteomeinitiative.org/ttl/ctd.ttl"], "relation": {"types": null, "categories": null, "replaced_by": null, "synonyms": null, "label": null, "deprecated": null, "id": null, "description": null, "consider": null}, "qualifiers": null, "object_extension": null, "evidence_types": null}, {"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": "Short rib-polydactyly syndrome, Majewski type", "deprecated": null, "id": "Orphanet:93269", "description": null, "consider": null}, "id": "2c56312f-08a8-4c04-bebc-08318d13011c", "type": null, "evidence_graph": {"nodes": [{"lbl": "NEK1", "id": "NCBIGene:4750"}, {"lbl": "Short rib-polydactyly syndrome, Majewski type", "id": "Orphanet:93269"}, {"lbl": null, "id": "planteome:e5fa4ac7ef4059ec83803623484741b873b2bb15"}, {"lbl": "some variant of NEK1 that is a disease-causing germline mutation(s) in Short rib-polydactyly syndrome, Majewski type", "id": ":.well-known/genid/258621-93269VL"}, {"lbl": "imported manually asserted information used in automatic assertion", "id": "ECO:0000322"}], "edges": [{"sub": "planteome:e5fa4ac7ef4059ec83803623484741b873b2bb15", "pred": "RO:0002558", "obj": "ECO:0000322"}, {"sub": ":.well-known/genid/258621-93269VL", "pred": "RO:0002200", "obj": "Orphanet:93269"}, {"sub": "planteome:e5fa4ac7ef4059ec83803623484741b873b2bb15", "pred": "OBAN:association_has_subject", "obj": ":.well-known/genid/258621-93269VL"}, {"sub": ":.well-known/genid/258621-93269VL", "pred": "GENO:0000408", "obj": "NCBIGene:4750"}, {"sub": "planteome:e5fa4ac7ef4059ec83803623484741b873b2bb15", "pred": "OBAN:association_has_object", "obj": "Orphanet:93269"}]}, "subject": {"xrefs": null, "taxon": {"label": "Homo sapiens", "id": "NCBITaxon:9606"}, "types": null, "categories": null, "replaced_by": null, "synonyms": null, "label": "NEK1", "deprecated": null, "id": "NCBIGene:4750", "description": null, "consider": null}, "provided_by": ["http://data.planteomeinitiative.org/ttl/orphanet.ttl"], "relation": {"types": null, "categories": null, "replaced_by": null, "synonyms": null, "label": null, "deprecated": null, "id": null, "description": null, "consider": null}, "qualifiers": null, "object_extension": null, "evidence_types": null}], "compact_associations": null, "objects": ["DOID:332", "KEGG-ds:H00511", "OMIM:263520", "OMIM:613091", "Orphanet:1505", "Orphanet:93269"], "start": null, "numFound": null, "facet_pivot": null, "facet_counts": {"subject_taxon_label": {"Homo sapiens": 6}, "object_closure": {"DOID:0080015": 4, "BFO:0000020": 6, "owl:Thing": 6, "DOID:0080010": 4, "BFO:0000002": 6, "MESH:D001847": 4, "BFO:0000016": 6, "MESH:D004194": 6, "OBI:1110055": 6, "DOID:4": 6, "DOID:65": 4, "DOID:630": 4, "DOID:0080006": 4, "DOID:7": 5, "DOID:1934": 4, "DOID:17": 4, "DOID:1148": 4, "BFO:0000001": 6, "MESH:D003240": 4, "BFO:0000017": 6, "DOID:0080001": 4, "UMLS:CN200528": 6, "MESH:D001848": 4, "DOID:1579": 4, "UMLS:C0442893": 6}}} |