Mercurial > repos > nathandunn > biolinkmonarchinitiative
view test-data/diseases-for-gene.json @ 3:d40860663861 draft
planemo upload commit 1a35e82b210719d58263c618f9a67801db26d391
author | nathandunn |
---|---|
date | Sat, 02 Dec 2017 16:41:34 -0500 |
parents | 4f6fba8332ec |
children |
line wrap: on
line source
{"compact_associations": null, "associations": [{"evidence_types": null, "slim": null, "provided_by": ["https://data.monarchinitiative.org/ttl/clinvar.ttl"], "evidence_graph": {"edges": [{"pred": "OBAN:association_has_object", "sub": "MONARCH:b4e6bed6a75482ff", "obj": "OMIM:613091"}, {"pred": "GENO:0000418", "sub": "ClinVarVariant:30430", "obj": "NCBIGene:4750"}, {"pred": "GENO:0000418", "sub": "ClinVarVariant:191325", "obj": "NCBIGene:4750"}, {"pred": "OBAN:association_has_subject", "sub": "MONARCH:b6ca956c0d207dcf", "obj": "ClinVarVariant:191325"}, {"pred": "GENO:0000840", "sub": "ClinVarVariant:191325", "obj": "OMIM:613091"}, {"pred": "OBAN:association_has_subject", "sub": "MONARCH:b4e6bed6a75482ff", "obj": "ClinVarVariant:30430"}, {"pred": "OBAN:association_has_object", "sub": "MONARCH:b6ca956c0d207dcf", "obj": "OMIM:613091"}, {"pred": "dc:source", "sub": "MONARCH:b4e6bed6a75482ff", "obj": "PMID:21211617"}, {"pred": "GENO:0000840", "sub": "ClinVarVariant:30430", "obj": "OMIM:613091"}], "nodes": [{"id": "MONARCH:b4e6bed6a75482ff", "lbl": null}, {"id": "PMID:21211617", "lbl": null}, {"id": "ClinVarVariant:30430", "lbl": "NM_001199397.1(NEK1):c.1640_1641insA (p.Asn547Lysfs)"}, {"id": "MONARCH:b6ca956c0d207dcf", "lbl": null}, {"id": "ClinVarVariant:191325", "lbl": "NM_001199397.1(NEK1):c.1690_1691delAT (p.Met564Valfs)"}, {"id": "NCBIGene:4750", "lbl": "NEK1"}, {"id": "OMIM:613091", "lbl": "Short-rib thoracic dysplasia 3 with or without polydactyly"}]}, "relation": {"deprecated": null, "id": "GENO:0000840", "replaced_by": null, "consider": null, "label": "pathogenic_for_condition", "categories": null, "synonyms": null, "description": null, "types": null}, "publications": [{"deprecated": null, "id": "PMID:21211617", "replaced_by": null, "consider": null, "label": null, "categories": null, "synonyms": null, "description": null, "types": null}], "type": null, "subject_extension": null, "object": {"taxon": {"id": null, "label": null}, "xrefs": null, "deprecated": null, "id": "OMIM:613091", "replaced_by": null, "consider": null, "label": "Short-rib thoracic dysplasia 3 with or without polydactyly", "categories": null, "synonyms": null, "description": null, "types": null}, "id": "d68d423e-246b-4aa4-88dc-58932eea4d15", "object_extension": null, "subject": {"taxon": {"id": "NCBITaxon:9606", "label": "Homo sapiens"}, "xrefs": null, "deprecated": null, "id": "NCBIGene:4750", "replaced_by": null, "consider": null, "label": "NEK1", "categories": null, "synonyms": null, "description": null, "types": null}, "negated": false, "qualifiers": null}, {"evidence_types": null, "slim": null, "provided_by": ["https://data.monarchinitiative.org/ttl/kegg.ttl", "https://data.monarchinitiative.org/ttl/omim.ttl", "https://data.monarchinitiative.org/ttl/ctd.ttl", "https://data.monarchinitiative.org/ttl/clinvar.ttl"], "evidence_graph": {"edges": [{"pred": "RO:0002558", "sub": "MONARCH:df9a80b8fcbf3ca1", "obj": "ECO:0000220"}, {"pred": "RO:0002607", "sub": ":.well-known/genid/NCBIGene4750-OMIM263520VL", "obj": "OMIM:263520"}, {"pred": "GENO:0000840", "sub": "ClinVarVariant:30428", "obj": "OMIM:263520"}, {"pred": "dc:source", "sub": "MONARCH:bdaaa6754e1c54ef", "obj": "PMID:22499340"}, {"pred": "OBAN:association_has_object", "sub": "MONARCH:b50846fde3f0631d", "obj": "OMIM:263520"}, {"pred": "OBAN:association_has_object", "sub": "MONARCH:b87c771d259ffa59", "obj": "OMIM:263520"}, {"pred": "OBAN:association_has_subject", "sub": "MONARCH:bdaaa6754e1c54ef", "obj": "ClinVarVariant:208600"}, {"pred": "OBAN:association_has_object", "sub": "MONARCH:328c0dd7e35c2fc9", "obj": "OMIM:263520"}, {"pred": "OBAN:association_has_subject", "sub": "MONARCH:b07e69d8be19984c", "obj": "ClinVarVariant:40072"}, {"pred": "RO:0002607", "sub": ":.well-known/genid/KEGG-hsa4750-OMIM263520VL", "obj": "OMIM:263520"}, {"pred": "dc:source", "sub": "MONARCH:b50846fde3f0631d", "obj": "PMID:21211617"}, {"pred": "GENO:0000840", "sub": "ClinVarVariant:195286", "obj": "OMIM:263520"}, {"pred": "OBAN:association_has_subject", "sub": "MONARCH:b87c771d259ffa59", "obj": "ClinVarVariant:193892"}, {"pred": "OBAN:association_has_subject", "sub": "MONARCH:099ef0113c919cb8", "obj": ":.well-known/genid/KEGG-hsa4750-OMIM263520VL"}, {"pred": "GENO:0000418", "sub": "ClinVarVariant:195286", "obj": "NCBIGene:4750"}, {"pred": "OBAN:association_has_object", "sub": "MONARCH:099ef0113c919cb8", "obj": "OMIM:263520"}, {"pred": "RO:0002200", "sub": ":.well-known/genid/OMIM604588-263520VL", "obj": "OMIM:263520"}, {"pred": "OBAN:association_has_object", "sub": "MONARCH:bed7b4decf4ef467", "obj": "OMIM:263520"}, {"pred": "dc:source", "sub": "MONARCH:328c0dd7e35c2fc9", "obj": "PMID:21211617"}, {"pred": "GENO:0000418", "sub": "ClinVarVariant:40072", "obj": "NCBIGene:4750"}, {"pred": "GENO:0000840", "sub": "ClinVarVariant:30429", "obj": "OMIM:263520"}, {"pred": "GENO:0000418", "sub": ":.well-known/genid/OMIM604588-263520VL", "obj": "NCBIGene:4750"}, {"pred": "OBAN:association_has_object", "sub": "MONARCH:b07e69d8be19984c", "obj": "OMIM:263520"}, {"pred": "dc:source", "sub": "MONARCH:bed7b4decf4ef467", "obj": "PMID:21211617"}, {"pred": "dc:source", "sub": "MONARCH:328c0dd7e35c2fc9", "obj": "PMID:22499340"}, {"pred": "OBAN:association_has_subject", "sub": "MONARCH:b50846fde3f0631d", "obj": "ClinVarVariant:30428"}, {"pred": "GENO:0000840", "sub": "ClinVarVariant:208600", "obj": "OMIM:263520"}, {"pred": "GENO:0000418", "sub": "ClinVarVariant:193892", "obj": "NCBIGene:4750"}, {"pred": "OBAN:association_has_subject", "sub": "MONARCH:bed7b4decf4ef467", "obj": "ClinVarVariant:30429"}, {"pred": "dc:source", "sub": "MONARCH:bdaaa6754e1c54ef", "obj": "PMID:21211617"}, {"pred": "GENO:0000418", "sub": ":.well-known/genid/NCBIGene4750-OMIM263520VL", "obj": "NCBIGene:4750"}, {"pred": "GENO:0000840", "sub": "ClinVarVariant:193892", "obj": "OMIM:263520"}, {"pred": "GENO:0000418", "sub": "ClinVarVariant:30429", "obj": "NCBIGene:4750"}, {"pred": "dc:source", "sub": "MONARCH:b07e69d8be19984c", "obj": "PMID:22499340"}, {"pred": "OBAN:association_has_subject", "sub": "MONARCH:328c0dd7e35c2fc9", "obj": ":.well-known/genid/NCBIGene4750-OMIM263520VL"}, {"pred": "OBAN:association_has_subject", "sub": "MONARCH:df9a80b8fcbf3ca1", "obj": ":.well-known/genid/OMIM604588-263520VL"}, {"pred": "OBAN:association_has_object", "sub": "MONARCH:bdaaa6754e1c54ef", "obj": "OMIM:263520"}, {"pred": "GENO:0000418", "sub": ":.well-known/genid/KEGG-hsa4750-OMIM263520VL", "obj": "NCBIGene:4750"}, {"pred": "GENO:0000841", "sub": "ClinVarVariant:208600", "obj": "OMIM:263520"}, {"pred": "OBAN:association_has_subject", "sub": "MONARCH:ba3b17d6fcfb44e4", "obj": "ClinVarVariant:195286"}, {"pred": "OBAN:association_has_object", "sub": "MONARCH:df9a80b8fcbf3ca1", "obj": "OMIM:263520"}, {"pred": "GENO:0000418", "sub": "ClinVarVariant:30428", "obj": "NCBIGene:4750"}, {"pred": "OBAN:association_has_subject", "sub": "MONARCH:b7c653926bc48369", "obj": "ClinVarVariant:208600"}, {"pred": "RO:0002558", "sub": "MONARCH:328c0dd7e35c2fc9", "obj": "ECO:0000033"}, {"pred": "dc:source", "sub": "MONARCH:b50846fde3f0631d", "obj": "PMID:22499340"}, {"pred": "OBAN:association_has_object", "sub": "MONARCH:ba3b17d6fcfb44e4", "obj": "OMIM:263520"}, {"pred": "OBAN:association_has_object", "sub": "MONARCH:b7c653926bc48369", "obj": "OMIM:263520"}, {"pred": "GENO:0000840", "sub": "ClinVarVariant:40072", "obj": "OMIM:263520"}, {"pred": "GENO:0000418", "sub": "ClinVarVariant:208600", "obj": "NCBIGene:4750"}], "nodes": [{"id": "ClinVarVariant:40072", "lbl": "NM_001199397.1(NEK1):c.433G>A (p.Gly145Arg)"}, {"id": "OMIM:263520", "lbl": "short-rib thoracic dysplasia 6 with or without polydactyly"}, {"id": "PMID:21211617", "lbl": null}, {"id": ":.well-known/genid/NCBIGene4750-OMIM263520VL", "lbl": "some variant of NEK1 that is marker/mechanism for Short Rib-Polydactyly Syndrome"}, {"id": "ClinVarVariant:30428", "lbl": "NM_001199397.1(NEK1):c.379C>T (p.Arg127Ter)"}, {"id": "PMID:22499340", "lbl": null}, {"id": ":.well-known/genid/OMIM604588-263520VL", "lbl": "some variant of NEK1 that causes Short-rib thoracic dysplasia 6 with or without polydactyly"}, {"id": "NCBIGene:4750", "lbl": "NEK1"}, {"id": "MONARCH:df9a80b8fcbf3ca1", "lbl": null}, {"id": "MONARCH:099ef0113c919cb8", "lbl": null}, {"id": "MONARCH:b50846fde3f0631d", "lbl": null}, {"id": "ClinVarVariant:195286", "lbl": "NM_001199397.1(NEK1):c.117+1G>A"}, {"id": "MONARCH:b07e69d8be19984c", "lbl": null}, {"id": "MONARCH:bed7b4decf4ef467", "lbl": null}, {"id": "MONARCH:328c0dd7e35c2fc9", "lbl": null}, {"id": "ECO:0000033", "lbl": "traceable author statement"}, {"id": ":.well-known/genid/KEGG-hsa4750-OMIM263520VL", "lbl": "some variant of K08857 NIMA (never in mitosis gene a)-related kinase 1/4/5 [EC:2.7.11.1] | (RefSeq) NEK1"}, {"id": "MONARCH:ba3b17d6fcfb44e4", "lbl": null}, {"id": "ECO:0000220", "lbl": "sequencing assay evidence"}, {"id": "MONARCH:b7c653926bc48369", "lbl": null}, {"id": "MONARCH:bdaaa6754e1c54ef", "lbl": null}, {"id": "ClinVarVariant:30429", "lbl": "NM_001199397.1(NEK1):c.869-2A>G"}, {"id": "ClinVarVariant:193892", "lbl": "NM_001199397.1(NEK1):c.869-1G>T"}, {"id": "ClinVarVariant:208600", "lbl": "NM_001199397.1(NEK1):c.3107C>G (p.Ser1036Ter)"}, {"id": "MONARCH:b87c771d259ffa59", "lbl": null}]}, "relation": {"deprecated": null, "id": "RO:0002607", "replaced_by": null, "consider": null, "label": "is marker for", "categories": null, "synonyms": null, "description": null, "types": null}, "publications": [{"deprecated": null, "id": "PMID:21211617", "replaced_by": null, "consider": null, "label": null, "categories": null, "synonyms": null, "description": null, "types": null}, {"deprecated": null, "id": "PMID:22499340", "replaced_by": null, "consider": null, "label": null, "categories": null, "synonyms": null, "description": null, "types": null}], "type": null, "subject_extension": null, "object": {"taxon": {"id": null, "label": null}, "xrefs": null, "deprecated": null, "id": "OMIM:263520", "replaced_by": null, "consider": null, "label": "short-rib thoracic dysplasia 6 with or without polydactyly", "categories": null, "synonyms": null, "description": null, "types": null}, "id": "0ef08942-bf92-464c-a54e-7147f2f461fc", "object_extension": null, "subject": {"taxon": {"id": "NCBITaxon:9606", "label": "Homo sapiens"}, "xrefs": null, "deprecated": null, "id": "NCBIGene:4750", "replaced_by": null, "consider": null, "label": "NEK1", "categories": null, "synonyms": null, "description": null, "types": null}, "negated": false, "qualifiers": null}, {"evidence_types": null, "slim": null, "provided_by": ["https://data.monarchinitiative.org/ttl/orphanet.ttl"], "evidence_graph": {"edges": [{"pred": "RO:0002558", "sub": "MONARCH:e5fa4ac7ef4059ec", "obj": "ECO:0000322"}, {"pred": "GENO:0000418", "sub": ":.well-known/genid/258621-93269VL", "obj": "NCBIGene:4750"}, {"pred": "OBAN:association_has_subject", "sub": "MONARCH:e5fa4ac7ef4059ec", "obj": ":.well-known/genid/258621-93269VL"}, {"pred": "RO:0002200", "sub": ":.well-known/genid/258621-93269VL", "obj": "Orphanet:93269"}, {"pred": "OBAN:association_has_object", "sub": "MONARCH:e5fa4ac7ef4059ec", "obj": "Orphanet:93269"}], "nodes": [{"id": ":.well-known/genid/258621-93269VL", "lbl": "some variant of NEK1 that is a disease-causing germline mutation(s) in Short rib-polydactyly syndrome, Majewski type"}, {"id": "MONARCH:e5fa4ac7ef4059ec", "lbl": null}, {"id": "ECO:0000322", "lbl": "imported manually asserted information used in automatic assertion"}, {"id": "Orphanet:93269", "lbl": "Short rib-polydactyly syndrome, Majewski type"}, {"id": "NCBIGene:4750", "lbl": "NEK1"}]}, "relation": {"deprecated": null, "id": "RO:0002200", "replaced_by": null, "consider": null, "label": "has phenotype", "categories": null, "synonyms": null, "description": null, "types": null}, "publications": null, "type": null, "subject_extension": null, "object": {"taxon": {"id": null, "label": null}, "xrefs": null, "deprecated": null, "id": "Orphanet:93269", "replaced_by": null, "consider": null, "label": "Short rib-polydactyly syndrome, Majewski type", "categories": null, "synonyms": null, "description": null, "types": null}, "id": "819a2931-1fd9-45ea-93a1-9f40dee43deb", "object_extension": null, "subject": {"taxon": {"id": "NCBITaxon:9606", "label": "Homo sapiens"}, "xrefs": null, "deprecated": null, "id": "NCBIGene:4750", "replaced_by": null, "consider": null, "label": "NEK1", "categories": null, "synonyms": null, "description": null, "types": null}, "negated": false, "qualifiers": null}, {"evidence_types": null, "slim": null, "provided_by": ["https://data.monarchinitiative.org/ttl/orphanet.ttl"], "evidence_graph": {"edges": [{"pred": "RO:0002200", "sub": ":.well-known/genid/258621-2751VL", "obj": "OMIM:252100"}, {"pred": "OBAN:association_has_object", "sub": "MONARCH:7f9f5186a3c9db7c", "obj": "OMIM:252100"}, {"pred": "GENO:0000418", "sub": ":.well-known/genid/258621-2751VL", "obj": "NCBIGene:4750"}, {"pred": "OBAN:association_has_subject", "sub": "MONARCH:7f9f5186a3c9db7c", "obj": ":.well-known/genid/258621-2751VL"}, {"pred": "RO:0002558", "sub": "MONARCH:7f9f5186a3c9db7c", "obj": "ECO:0000322"}], "nodes": [{"id": "OMIM:252100", "lbl": "Orofaciodigital syndrome type 2"}, {"id": ":.well-known/genid/258621-2751VL", "lbl": "some variant of NEK1 that is a disease-causing germline mutation(s) in Orofaciodigital syndrome type 2"}, {"id": "ECO:0000322", "lbl": "imported manually asserted information used in automatic assertion"}, {"id": "MONARCH:7f9f5186a3c9db7c", "lbl": null}, {"id": "NCBIGene:4750", "lbl": "NEK1"}]}, "relation": {"deprecated": null, "id": "RO:0002200", "replaced_by": null, "consider": null, "label": "has phenotype", "categories": null, "synonyms": null, "description": null, "types": null}, "publications": null, "type": null, "subject_extension": null, "object": {"taxon": {"id": null, "label": null}, "xrefs": null, "deprecated": null, "id": "OMIM:252100", "replaced_by": null, "consider": null, "label": "Orofaciodigital syndrome type 2", "categories": null, "synonyms": null, "description": null, "types": null}, "id": "04db019c-1bbf-4e43-9d28-5fa91a810e80", "object_extension": null, "subject": {"taxon": {"id": "NCBITaxon:9606", "label": "Homo sapiens"}, "xrefs": null, "deprecated": null, "id": "NCBIGene:4750", "replaced_by": null, "consider": null, "label": "NEK1", "categories": null, "synonyms": null, "description": null, "types": null}, "negated": false, "qualifiers": null}, {"evidence_types": null, "slim": null, "provided_by": ["https://data.monarchinitiative.org/ttl/kegg.ttl"], "evidence_graph": {"edges": [{"pred": "OBAN:association_has_subject", "sub": "MONARCH:e199fb9f97b08b3e", "obj": ":.well-known/genid/KEGG-hsa4750-KEGG-dsH00511VL"}, {"pred": "RO:0002607", "sub": ":.well-known/genid/KEGG-hsa4750-KEGG-dsH00511VL", "obj": "KEGG-ds:H00511"}, {"pred": "OBAN:association_has_object", "sub": "MONARCH:e199fb9f97b08b3e", "obj": "KEGG-ds:H00511"}, {"pred": "GENO:0000418", "sub": ":.well-known/genid/KEGG-hsa4750-KEGG-dsH00511VL", "obj": "NCBIGene:4750"}], "nodes": [{"id": ":.well-known/genid/KEGG-hsa4750-KEGG-dsH00511VL", "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": "MONARCH:e199fb9f97b08b3e", "lbl": null}, {"id": "KEGG-ds:H00511", "lbl": "Short rib-polydactyly syndrome"}, {"id": "NCBIGene:4750", "lbl": "NEK1"}]}, "relation": {"deprecated": null, "id": "RO:0002607", "replaced_by": null, "consider": null, "label": "is marker for", "categories": null, "synonyms": null, "description": null, "types": null}, "publications": null, "type": null, "subject_extension": null, "object": {"taxon": {"id": null, "label": null}, "xrefs": null, "deprecated": null, "id": "KEGG-ds:H00511", "replaced_by": null, "consider": null, "label": "Short rib-polydactyly syndrome", "categories": null, "synonyms": null, "description": null, "types": null}, "id": "7794dd43-453b-4a1f-91e8-e878bd5eb23d", "object_extension": null, "subject": {"taxon": {"id": "NCBITaxon:9606", "label": "Homo sapiens"}, "xrefs": null, "deprecated": null, "id": "NCBIGene:4750", "replaced_by": null, "consider": null, "label": "NEK1", "categories": null, "synonyms": null, "description": null, "types": null}, "negated": false, "qualifiers": null}, {"evidence_types": null, "slim": null, "provided_by": ["https://data.monarchinitiative.org/ttl/ctd.ttl", "https://data.monarchinitiative.org/ttl/orphanet.ttl"], "evidence_graph": {"edges": [{"pred": "GENO:0000418", "sub": ":.well-known/genid/NCBIGene4750-MESHD000690VL", "obj": "NCBIGene:4750"}, {"pred": "RO:0002558", "sub": "MONARCH:ece9f777ba9bf594", "obj": "ECO:0000033"}, {"pred": "RO:0002326", "sub": ":.well-known/genid/258621-803VL", "obj": "DOID:332"}, {"pred": "OBAN:association_has_subject", "sub": "MONARCH:ece9f777ba9bf594", "obj": ":.well-known/genid/NCBIGene4750-MESHD000690VL"}, {"pred": "OBAN:association_has_subject", "sub": "MONARCH:8831bb8e884e4fe5", "obj": ":.well-known/genid/258621-803VL"}, {"pred": "RO:0002558", "sub": "MONARCH:8831bb8e884e4fe5", "obj": "ECO:0000322"}, {"pred": "RO:0002607", "sub": ":.well-known/genid/NCBIGene4750-MESHD000690VL", "obj": "DOID:332"}, {"pred": "dc:source", "sub": "MONARCH:ece9f777ba9bf594", "obj": "PMID:26945885"}, {"pred": "OBAN:association_has_object", "sub": "MONARCH:8831bb8e884e4fe5", "obj": "DOID:332"}, {"pred": "OBAN:association_has_object", "sub": "MONARCH:ece9f777ba9bf594", "obj": "DOID:332"}, {"pred": "dc:source", "sub": "MONARCH:ece9f777ba9bf594", "obj": "PMID:27455347"}, {"pred": "GENO:0000418", "sub": ":.well-known/genid/258621-803VL", "obj": "NCBIGene:4750"}], "nodes": [{"id": "DOID:332", "lbl": "amyotrophic lateral sclerosis"}, {"id": "ECO:0000033", "lbl": "traceable author statement"}, {"id": "MONARCH:ece9f777ba9bf594", "lbl": null}, {"id": "MONARCH:8831bb8e884e4fe5", "lbl": null}, {"id": "PMID:26945885", "lbl": null}, {"id": "PMID:27455347", "lbl": null}, {"id": ":.well-known/genid/NCBIGene4750-MESHD000690VL", "lbl": "some variant of NEK1 that is marker/mechanism for Amyotrophic Lateral Sclerosis"}, {"id": "ECO:0000322", "lbl": "imported manually asserted information used in automatic assertion"}, {"id": ":.well-known/genid/258621-803VL", "lbl": "some variant of NEK1 that is a major susceptibility factor in Amyotrophic lateral sclerosis"}, {"id": "NCBIGene:4750", "lbl": "NEK1"}]}, "relation": {"deprecated": null, "id": "RO:0002326", "replaced_by": null, "consider": null, "label": "contributes to", "categories": null, "synonyms": null, "description": null, "types": null}, "publications": [{"deprecated": null, "id": "PMID:26945885", "replaced_by": null, "consider": null, "label": null, "categories": null, "synonyms": null, "description": null, "types": null}, {"deprecated": null, "id": "PMID:27455347", "replaced_by": null, "consider": null, "label": null, "categories": null, "synonyms": null, "description": null, "types": null}], "type": null, "subject_extension": null, "object": {"taxon": {"id": null, "label": null}, "xrefs": null, "deprecated": null, "id": "DOID:332", "replaced_by": null, "consider": null, "label": "amyotrophic lateral sclerosis", "categories": null, "synonyms": null, "description": null, "types": null}, "id": "62af6574-eb61-4883-9770-ca547c3b10c4", "object_extension": null, "subject": {"taxon": {"id": "NCBITaxon:9606", "label": "Homo sapiens"}, "xrefs": null, "deprecated": null, "id": "NCBIGene:4750", "replaced_by": null, "consider": null, "label": "NEK1", "categories": null, "synonyms": null, "description": null, "types": null}, "negated": false, "qualifiers": null}], "objects": ["DOID:332", "KEGG-ds:H00511", "OMIM:252100", "OMIM:263520", "OMIM:613091", "Orphanet:93269"], "numFound": null, "start": null, "facet_counts": {"object_closure": {"MESH:D003240": 4, "MESH:D009140": 4, "MESH:D030342": 4, "BFO:0000016": 6, "BFO:0000002": 6, "MESH:D009139": 4, "BFO:0000001": 6, "DOID:65": 4, "BFO:0000017": 6, "MESH:D004413": 4, "DOID:4": 6, "DOID:0080006": 4, "DOID:0080010": 4, "BFO:0000020": 6, "DOID:630": 4, "MESH:D001848": 4, "MESH:D004194": 6, "owl:Thing": 6, "DOID:7": 5, "DOID:0080001": 4, "DOID:1934": 4, "MESH:D001847": 4, "Orphanet:139012": 4, "OBI:1110055": 6, "DOID:17": 4}, "subject_taxon_label": {"Homo sapiens": 6}}, "facet_pivot": null}