comparison test-data/phenotypes-for-gene.json @ 1:66ece4fd024f draft default tip

planemo upload commit 20eeb677e99874173440a365f2db04e315e7ebed

0:028a3ffc17b4

{"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": "Anal atresia", "deprecated": null, "id": "HP:0002023", "description": null, "consider": null}, "id": "a8133038-74c5-4b6b-b3d4-b5724b5ea323", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": null, "id": "planteome:6e532cfdf7a5d7184cb9dcaaf33fec1165d32637"}, {"lbl": "NM_001199397.1(NEK1):c.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"lbl": "Anal atresia", "id": "HP:0002023"}, {"lbl": null, "id": "planteome:dd3d64e88676b25c3ba7e9bdd78f98dd5ff38703"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "planteome:6e532cfdf7a5d7184cb9dcaaf33fec1165d32637", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "planteome:6e532cfdf7a5d7184cb9dcaaf33fec1165d32637", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0002023"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "planteome:dd3d64e88676b25c3ba7e9bdd78f98dd5ff38703", "pred": "OBAN:association_has_object", "obj": "HP:0002023"}, {"sub": "planteome:6e532cfdf7a5d7184cb9dcaaf33fec1165d32637", "pred": "OBAN:association_has_object", "obj": "HP:0002023"}, {"sub": "planteome:dd3d64e88676b25c3ba7e9bdd78f98dd5ff38703", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0002023"}, {"sub": "planteome:dd3d64e88676b25c3ba7e9bdd78f98dd5ff38703", "pred": "RO:0002558", "obj": "ECO:0000304"}]}, "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", "http://data.planteomeinitiative.org/ttl/hpoa.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": "Rudimentary to absent tibiae", "deprecated": null, "id": "HP:0006426", "description": null, "consider": null}, "id": "c622c9e0-f6d5-4436-9e42-e29cfe3cecb6", "type": null, "evidence_graph": {"nodes": [{"lbl": "Rudimentary to absent tibiae", "id": "HP:0006426"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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"}, {"lbl": null, "id": "planteome:302cf8b37db1ec54b52df4ffa1a48ce740b947b5"}], "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": "planteome:302cf8b37db1ec54b52df4ffa1a48ce740b947b5", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "planteome:302cf8b37db1ec54b52df4ffa1a48ce740b947b5", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "planteome:302cf8b37db1ec54b52df4ffa1a48ce740b947b5", "pred": "OBAN:association_has_object", "obj": "HP:0006426"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0006426"}]}, "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", "http://data.planteomeinitiative.org/ttl/hpoa.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": "Frontal bossing", "deprecated": null, "id": "HP:0002007", "description": null, "consider": null}, "id": "9b5500a8-fec8-4b6b-a1da-c0ed0ca3c4c3", "type": null, "evidence_graph": {"nodes": [{"lbl": "Frontal bossing", "id": "HP:0002007"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": null, "id": "planteome:d025924e7b2cc9761f125d25166aaf3d254e1ee4"}, {"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": "planteome:d025924e7b2cc9761f125d25166aaf3d254e1ee4", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0002007"}, {"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"}, {"sub": "planteome:d025924e7b2cc9761f125d25166aaf3d254e1ee4", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "planteome:d025924e7b2cc9761f125d25166aaf3d254e1ee4", "pred": "OBAN:association_has_object", "obj": "HP:0002007"}]}, "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", "http://data.planteomeinitiative.org/ttl/hpoa.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": "Enlarged kidney", "deprecated": null, "id": "HP:0000105", "description": null, "consider": null}, "id": "4e170e4c-743d-4c09-8f89-96ca4b9644fb", "type": null, "evidence_graph": {"nodes": [{"lbl": "Enlarged kidney", "id": "HP:0000105"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": null, "id": "planteome:cedd3ab524c826872bfed14f96790e1d4d073a43"}, {"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": "planteome:cedd3ab524c826872bfed14f96790e1d4d073a43", "pred": "OBAN:association_has_object", "obj": "HP:0000105"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0000105"}, {"sub": "planteome:cedd3ab524c826872bfed14f96790e1d4d073a43", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "planteome:cedd3ab524c826872bfed14f96790e1d4d073a43", "pred": "OBAN:association_has_subject", "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", "http://data.planteomeinitiative.org/ttl/hpoa.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": "Intestinal malrotation", "deprecated": null, "id": "HP:0002566", "description": null, "consider": null}, "id": "49ef5706-56b3-4cd2-a252-6669e9811fbd", "type": null, "evidence_graph": {"nodes": [{"lbl": "Intestinal malrotation", "id": "HP:0002566"}, {"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.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"lbl": "NM_001199397.1(NEK1):c.433G>A (p.Gly145Arg)", "id": "ClinVarVariant:40072"}, {"lbl": "sequencing assay evidence", "id": "ECO:0000220"}, {"lbl": null, "id": "planteome:336ed8d0f584bca42a64f57c8dcac284e09ee205"}, {"lbl": "NM_001199397.1(NEK1):c.869-2A>G", "id": "ClinVarVariant:30429"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "NM_001199397.1(NEK1):c.3107C>G (p.Ser1036Ter)", "id": "ClinVarVariant:208600"}, {"lbl": "NEK1", "id": "NCBIGene:4750"}, {"lbl": null, "id": "planteome:c6d7a6b75680971db9405c6a1c69fcad07b31ad6"}, {"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:30428", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "planteome:336ed8d0f584bca42a64f57c8dcac284e09ee205", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "planteome:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "RO:0002558", "obj": "ECO:0000220"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "planteome:c6d7a6b75680971db9405c6a1c69fcad07b31ad6", "pred": "OBAN:association_has_object", "obj": "HP:0002566"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "planteome:336ed8d0f584bca42a64f57c8dcac284e09ee205", "pred": "OBAN:association_has_object", "obj": "HP:0002566"}, {"sub": "planteome:c6d7a6b75680971db9405c6a1c69fcad07b31ad6", "pred": "OBAN:association_has_subject", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "planteome:c6d7a6b75680971db9405c6a1c69fcad07b31ad6", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "OMIM:263520", "pred": "RO:0002200", "obj": "HP:0002566"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"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": ":.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": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0002566"}, {"sub": "planteome:336ed8d0f584bca42a64f57c8dcac284e09ee205", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"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/omim.ttl", "http://data.planteomeinitiative.org/ttl/clinvar.ttl", "http://data.planteomeinitiative.org/ttl/hpoa.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": "Abnormality of cardiovascular system morphology", "deprecated": null, "id": "HP:0030680", "description": null, "consider": null}, "id": "c099a2b4-eafc-4ebe-aa57-71bb9daa60b2", "type": null, "evidence_graph": {"nodes": [{"lbl": "Abnormality of cardiovascular system morphology", "id": "HP:0030680"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": null, "id": "planteome:a54f4e6f8a923a874a4b14f170135dcc20d6ddf5"}, {"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": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0030680"}, {"sub": "planteome:a54f4e6f8a923a874a4b14f170135dcc20d6ddf5", "pred": "OBAN:association_has_object", "obj": "HP:0030680"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "planteome:a54f4e6f8a923a874a4b14f170135dcc20d6ddf5", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "planteome:a54f4e6f8a923a874a4b14f170135dcc20d6ddf5", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"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", "http://data.planteomeinitiative.org/ttl/hpoa.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": "Lethal skeletal dysplasia", "deprecated": null, "id": "HP:0005716", "description": null, "consider": null}, "id": "cb19632e-9178-49b7-b9e3-1ece523c6b26", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"lbl": "Short-rib thoracic dysplasia 3 with or without polydactyly", "id": "OMIM:613091"}, {"lbl": "Lethal skeletal dysplasia", "id": "HP:0005716"}, {"lbl": "NM_001199397.1(NEK1):c.1690_1691delAT (p.Met564Valfs)", "id": "ClinVarVariant:191325"}, {"lbl": null, "id": "planteome:175b097382b66bc89564dda84c2d245a0b089875"}, {"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": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0005716"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "planteome:175b097382b66bc89564dda84c2d245a0b089875", "pred": "OBAN:association_has_object", "obj": "HP:0005716"}, {"sub": "planteome:175b097382b66bc89564dda84c2d245a0b089875", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "planteome:175b097382b66bc89564dda84c2d245a0b089875", "pred": "OBAN:association_has_subject", "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", "http://data.planteomeinitiative.org/ttl/hpoa.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": "Median cleft lip", "deprecated": null, "id": "HP:0000161", "description": null, "consider": null}, "id": "4697a7d9-3192-4b8d-9133-4fac25cc3228", "type": null, "evidence_graph": {"nodes": [{"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": null, "id": "planteome:e3bb0ce9be08bc77453e0dcd30605bd84d2726fd"}, {"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": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"lbl": "NM_001199397.1(NEK1):c.3107C>G (p.Ser1036Ter)", "id": "ClinVarVariant:208600"}, {"lbl": "NEK1", "id": "NCBIGene:4750"}, {"lbl": "Median cleft lip", "id": "HP:0000161"}, {"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:30428", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "planteome:e3bb0ce9be08bc77453e0dcd30605bd84d2726fd", "pred": "OBAN:association_has_object", "obj": "HP:0000161"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "planteome:e3bb0ce9be08bc77453e0dcd30605bd84d2726fd", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "planteome:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "RO:0002558", "obj": "ECO:0000220"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"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": ":.well-known/genid/OMIM604588-263520VL", "pred": "RO:0002200", "obj": "OMIM:263520"}, {"sub": "OMIM:263520", "pred": "RO:0002200", "obj": "HP:0000161"}, {"sub": "planteome:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_subject", "obj": ":.well-known/genid/OMIM604588-263520VL"}, {"sub": "planteome:e3bb0ce9be08bc77453e0dcd30605bd84d2726fd", "pred": "OBAN:association_has_subject", "obj": "OMIM:263520"}, {"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/omim.ttl", "http://data.planteomeinitiative.org/ttl/clinvar.ttl", "http://data.planteomeinitiative.org/ttl/hpoa.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": "Polysyndactyly of hallux", "deprecated": null, "id": "HP:0005873", "description": null, "consider": null}, "id": "8a582dcd-5103-4a55-9457-b1d4327a803b", "type": null, "evidence_graph": {"nodes": [{"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": "Polysyndactyly of hallux", "id": "HP:0005873"}, {"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": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"lbl": "NM_001199397.1(NEK1):c.3107C>G (p.Ser1036Ter)", "id": "ClinVarVariant:208600"}, {"lbl": "NEK1", "id": "NCBIGene:4750"}, {"lbl": null, "id": "planteome:31ec8f3bc15fb668a8e19f0fa847c127f9dba82b"}, {"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:30428", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "OMIM:263520", "pred": "RO:0002200", "obj": "HP:0005873"}, {"sub": "planteome:31ec8f3bc15fb668a8e19f0fa847c127f9dba82b", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "planteome:31ec8f3bc15fb668a8e19f0fa847c127f9dba82b", "pred": "OBAN:association_has_subject", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "planteome:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "RO:0002558", "obj": "ECO:0000220"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"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": ":.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": "planteome:31ec8f3bc15fb668a8e19f0fa847c127f9dba82b", "pred": "OBAN:association_has_object", "obj": "HP:0005873"}, {"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/omim.ttl", "http://data.planteomeinitiative.org/ttl/clinvar.ttl", "http://data.planteomeinitiative.org/ttl/hpoa.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": "Talipes equinovarus", "deprecated": null, "id": "HP:0001762", "description": null, "consider": null}, "id": "4fab11fb-51d6-4abf-850f-c709e08005a4", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": null, "id": "planteome:06a6ca9712dfee43b2814f39e9bf0a3ccc73b945"}, {"lbl": "NEK1", "id": "NCBIGene:4750"}, {"lbl": "Talipes equinovarus", "id": "HP:0001762"}, {"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": "planteome:06a6ca9712dfee43b2814f39e9bf0a3ccc73b945", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "planteome:06a6ca9712dfee43b2814f39e9bf0a3ccc73b945", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0001762"}, {"sub": "planteome:06a6ca9712dfee43b2814f39e9bf0a3ccc73b945", "pred": "OBAN:association_has_object", "obj": "HP:0001762"}, {"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", "http://data.planteomeinitiative.org/ttl/hpoa.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": "Cerebellar cyst", "deprecated": null, "id": "HP:0002350", "description": null, "consider": null}, "id": "eff843e9-0405-4923-a77c-ccc130aa5a77", "type": null, "evidence_graph": {"nodes": [{"lbl": null, "id": "planteome:c9ac3d64c92b5bce74c8038e30d399da2ccc268f"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "Cerebellar cyst", "id": "HP:0002350"}, {"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": "planteome:c9ac3d64c92b5bce74c8038e30d399da2ccc268f", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "planteome:c9ac3d64c92b5bce74c8038e30d399da2ccc268f", "pred": "OBAN:association_has_object", "obj": "HP:0002350"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0002350"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "planteome:c9ac3d64c92b5bce74c8038e30d399da2ccc268f", "pred": "RO:0002558", "obj": "ECO:0000304"}]}, "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", "http://data.planteomeinitiative.org/ttl/hpoa.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": "Thoracic dysplasia", "deprecated": null, "id": "HP:0006644", "description": null, "consider": null}, "id": "5b945e56-d476-442f-9c30-61bbaa245864", "type": null, "evidence_graph": {"nodes": [{"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": null, "id": "planteome:8ad71f77f3720bb0dcf7c78c6fb3ad0c6bc062ca"}, {"lbl": "NM_001199397.1(NEK1):c.433G>A (p.Gly145Arg)", "id": "ClinVarVariant:40072"}, {"lbl": "sequencing assay evidence", "id": "ECO:0000220"}, {"lbl": "Thoracic dysplasia", "id": "HP:0006644"}, {"lbl": "NM_001199397.1(NEK1):c.869-2A>G", "id": "ClinVarVariant:30429"}, {"lbl": "NM_001199397.1(NEK1):c.3107C>G (p.Ser1036Ter)", "id": "ClinVarVariant:208600"}, {"lbl": "NEK1", "id": "NCBIGene:4750"}, {"lbl": "evidence used in automatic assertion", "id": "ECO:0000501"}, {"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:30428", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "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": "ClinVarVariant:30429", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "planteome:8ad71f77f3720bb0dcf7c78c6fb3ad0c6bc062ca", "pred": "OBAN:association_has_subject", "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": "planteome:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "RO:0002558", "obj": "ECO:0000220"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "planteome:8ad71f77f3720bb0dcf7c78c6fb3ad0c6bc062ca", "pred": "OBAN:association_has_object", "obj": "HP:0006644"}, {"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": "planteome:8ad71f77f3720bb0dcf7c78c6fb3ad0c6bc062ca", "pred": "RO:0002558", "obj": "ECO:0000501"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"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": "OMIM:263520", "pred": "RO:0002200", "obj": "HP:0006644"}, {"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/omim.ttl", "http://data.planteomeinitiative.org/ttl/clinvar.ttl", "http://data.planteomeinitiative.org/ttl/hpoa.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": "Postaxial hand polydactyly", "deprecated": null, "id": "HP:0001162", "description": null, "consider": null}, "id": "242e2b40-99a7-4a14-b75a-edefcb3618ca", "type": null, "evidence_graph": {"nodes": [{"lbl": null, "id": "planteome:c88a2ae8e770c18ea18070d62fda71adc9ec3943"}, {"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.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"lbl": "NM_001199397.1(NEK1):c.433G>A (p.Gly145Arg)", "id": "ClinVarVariant:40072"}, {"lbl": "sequencing assay evidence", "id": "ECO:0000220"}, {"lbl": "Postaxial hand polydactyly", "id": "HP:0001162"}, {"lbl": "NM_001199397.1(NEK1):c.869-2A>G", "id": "ClinVarVariant:30429"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "NM_001199397.1(NEK1):c.3107C>G (p.Ser1036Ter)", "id": "ClinVarVariant:208600"}, {"lbl": "NEK1", "id": "NCBIGene:4750"}, {"lbl": null, "id": "planteome:369e9070fcd66b8c455bcf594410e95bd175c61b"}, {"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:30428", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "planteome:369e9070fcd66b8c455bcf594410e95bd175c61b", "pred": "OBAN:association_has_object", "obj": "HP:0001162"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "planteome:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "RO:0002558", "obj": "ECO:0000220"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "planteome:369e9070fcd66b8c455bcf594410e95bd175c61b", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "OMIM:263520", "pred": "RO:0002200", "obj": "HP:0001162"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "planteome:369e9070fcd66b8c455bcf594410e95bd175c61b", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0001162"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"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:c88a2ae8e770c18ea18070d62fda71adc9ec3943", "pred": "OBAN:association_has_subject", "obj": "OMIM:263520"}, {"sub": "planteome:c88a2ae8e770c18ea18070d62fda71adc9ec3943", "pred": "OBAN:association_has_object", "obj": "HP:0001162"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "RO:0002200", "obj": "OMIM:263520"}, {"sub": "planteome:c88a2ae8e770c18ea18070d62fda71adc9ec3943", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"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/omim.ttl", "http://data.planteomeinitiative.org/ttl/clinvar.ttl", "http://data.planteomeinitiative.org/ttl/hpoa.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 foot", "deprecated": null, "id": "HP:0001773", "description": null, "consider": null}, "id": "19a8ec58-7ede-4eed-a47b-755fa85be5bb", "type": null, "evidence_graph": {"nodes": [{"lbl": null, "id": "planteome:9b0597f42cd31a1cc77a8fa60ff981febe16c7f5"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "Short foot", "id": "HP:0001773"}, {"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": "planteome:9b0597f42cd31a1cc77a8fa60ff981febe16c7f5", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0001773"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "planteome:9b0597f42cd31a1cc77a8fa60ff981febe16c7f5", "pred": "OBAN:association_has_object", "obj": "HP:0001773"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "planteome:9b0597f42cd31a1cc77a8fa60ff981febe16c7f5", "pred": "OBAN:association_has_subject", "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", "http://data.planteomeinitiative.org/ttl/hpoa.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": "Abnormality of the metaphyses", "deprecated": null, "id": "HP:0000944", "description": null, "consider": null}, "id": "f17e7338-2973-4541-a988-fa5e4d549639", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "Abnormality of the metaphyses", "id": "HP:0000944"}, {"lbl": "NM_001199397.1(NEK1):c.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"lbl": null, "id": "planteome:37e1d2a38fc10b2f1d2b76a5ccc0b9bd6f6e4be5"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "planteome:37e1d2a38fc10b2f1d2b76a5ccc0b9bd6f6e4be5", "pred": "OBAN:association_has_object", "obj": "HP:0000944"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "planteome:37e1d2a38fc10b2f1d2b76a5ccc0b9bd6f6e4be5", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "planteome:37e1d2a38fc10b2f1d2b76a5ccc0b9bd6f6e4be5", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0000944"}]}, "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", "http://data.planteomeinitiative.org/ttl/hpoa.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": "Bifid epiglottis", "deprecated": null, "id": "HP:0010564", "description": null, "consider": null}, "id": "d5f72c4c-9485-4029-804a-ddb106c9491d", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"lbl": "Short-rib thoracic dysplasia 3 with or without polydactyly", "id": "OMIM:613091"}, {"lbl": "Bifid epiglottis", "id": "HP:0010564"}, {"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"}, {"lbl": null, "id": "planteome:4c7085c8370d9e6e98b5e494454101c063c9e02b"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "planteome:4c7085c8370d9e6e98b5e494454101c063c9e02b", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0010564"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "planteome:4c7085c8370d9e6e98b5e494454101c063c9e02b", "pred": "OBAN:association_has_object", "obj": "HP:0010564"}, {"sub": "planteome:4c7085c8370d9e6e98b5e494454101c063c9e02b", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"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", "http://data.planteomeinitiative.org/ttl/hpoa.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": "Cryptorchidism", "deprecated": null, "id": "HP:0000028", "description": null, "consider": null}, "id": "720691bd-3433-4cdc-b88f-f15a780a3b5f", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": null, "id": "planteome:5815555d3257700702b193dfc179784a38770c15"}, {"lbl": "Cryptorchidism", "id": "HP:0000028"}, {"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": "planteome:5815555d3257700702b193dfc179784a38770c15", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0000028"}, {"sub": "planteome:5815555d3257700702b193dfc179784a38770c15", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "planteome:5815555d3257700702b193dfc179784a38770c15", "pred": "OBAN:association_has_object", "obj": "HP:0000028"}, {"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", "http://data.planteomeinitiative.org/ttl/hpoa.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": "Cleft upper lip", "deprecated": null, "id": "HP:0000204", "description": null, "consider": null}, "id": "e4880c89-aa00-4d1b-862a-9834c30926d0", "type": null, "evidence_graph": {"nodes": [{"lbl": null, "id": "planteome:0d1e84ff8e4337c2c3a14f13e2e6a15383ebd6ab"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "Cleft upper lip", "id": "HP:0000204"}, {"lbl": "NEK1", "id": "NCBIGene:4750"}, {"lbl": "NM_001199397.1(NEK1):c.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"lbl": null, "id": "planteome:78145da42e6efd77a887767846ba9da26c5bbd29"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0000204"}, {"sub": "planteome:0d1e84ff8e4337c2c3a14f13e2e6a15383ebd6ab", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "planteome:78145da42e6efd77a887767846ba9da26c5bbd29", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "planteome:78145da42e6efd77a887767846ba9da26c5bbd29", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0000204"}, {"sub": "planteome:78145da42e6efd77a887767846ba9da26c5bbd29", "pred": "OBAN:association_has_object", "obj": "HP:0000204"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "planteome:0d1e84ff8e4337c2c3a14f13e2e6a15383ebd6ab", "pred": "OBAN:association_has_object", "obj": "HP:0000204"}, {"sub": "planteome:0d1e84ff8e4337c2c3a14f13e2e6a15383ebd6ab", "pred": "OBAN:association_has_subject", "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", "http://data.planteomeinitiative.org/ttl/hpoa.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": "Absent or minimally ossified vertebral bodies", "deprecated": null, "id": "HP:0004599", "description": null, "consider": null}, "id": "0006356b-e600-4692-9eaf-0ca37d33fd68", "type": null, "evidence_graph": {"nodes": [{"lbl": null, "id": "planteome:693073558a10fca7047e31223f2fe8a09078fcc1"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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"}, {"lbl": "Absent or minimally ossified vertebral bodies", "id": "HP:0004599"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0004599"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "planteome:693073558a10fca7047e31223f2fe8a09078fcc1", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "planteome:693073558a10fca7047e31223f2fe8a09078fcc1", "pred": "OBAN:association_has_object", "obj": "HP:0004599"}, {"sub": "planteome:693073558a10fca7047e31223f2fe8a09078fcc1", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"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", "http://data.planteomeinitiative.org/ttl/hpoa.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": "Depressed nasal bridge", "deprecated": null, "id": "HP:0005280", "description": null, "consider": null}, "id": "66fd1a3d-b3c0-4bde-b24d-338cf53cbe48", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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"}, {"lbl": null, "id": "planteome:3eaf787077ade83c203df450a3b46d54a9426ce9"}, {"lbl": "Depressed nasal bridge", "id": "HP:0005280"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "planteome:3eaf787077ade83c203df450a3b46d54a9426ce9", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0005280"}, {"sub": "planteome:3eaf787077ade83c203df450a3b46d54a9426ce9", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "planteome:3eaf787077ade83c203df450a3b46d54a9426ce9", "pred": "OBAN:association_has_object", "obj": "HP:0005280"}]}, "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", "http://data.planteomeinitiative.org/ttl/hpoa.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": "Dilation of lateral ventricles", "deprecated": null, "id": "HP:0006956", "description": null, "consider": null}, "id": "10eb431b-5e95-4848-b8da-a0a9381887d8", "type": null, "evidence_graph": {"nodes": [{"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": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"lbl": "NM_001199397.1(NEK1):c.3107C>G (p.Ser1036Ter)", "id": "ClinVarVariant:208600"}, {"lbl": "NEK1", "id": "NCBIGene:4750"}, {"lbl": "Dilation of lateral ventricles", "id": "HP:0006956"}, {"lbl": "NM_001199397.1(NEK1):c.869-1G>T", "id": "ClinVarVariant:193892"}, {"lbl": null, "id": "planteome:08e9f506d7571f2dfe8bce8ad0008edd712889d5"}, {"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:30428", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "planteome:08e9f506d7571f2dfe8bce8ad0008edd712889d5", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "planteome:08e9f506d7571f2dfe8bce8ad0008edd712889d5", "pred": "OBAN:association_has_subject", "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": "planteome:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "RO:0002558", "obj": "ECO:0000220"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "OMIM:263520", "pred": "RO:0002200", "obj": "HP:0006956"}, {"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": ":.well-known/genid/OMIM604588-263520VL", "pred": "RO:0002200", "obj": "OMIM:263520"}, {"sub": "planteome:08e9f506d7571f2dfe8bce8ad0008edd712889d5", "pred": "OBAN:association_has_object", "obj": "HP:0006956"}, {"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/omim.ttl", "http://data.planteomeinitiative.org/ttl/clinvar.ttl", "http://data.planteomeinitiative.org/ttl/hpoa.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": "Micropenis", "deprecated": null, "id": "HP:0000054", "description": null, "consider": null}, "id": "8bb63a25-d4ae-402a-8349-ecaff52b105d", "type": null, "evidence_graph": {"nodes": [{"lbl": null, "id": "planteome:3621885ca376487ddee550f12863fa871776daa5"}, {"lbl": null, "id": "planteome:c2c236909eb3a1b6ad14e789b93aa3e66516c7e7"}, {"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.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"lbl": "NM_001199397.1(NEK1):c.117+1G>A", "id": "ClinVarVariant:195286"}, {"lbl": "Micropenis", "id": "HP:0000054"}, {"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": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "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:30428", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "planteome:c2c236909eb3a1b6ad14e789b93aa3e66516c7e7", "pred": "OBAN:association_has_subject", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "planteome:3621885ca376487ddee550f12863fa871776daa5", "pred": "OBAN:association_has_object", "obj": "HP:0000054"}, {"sub": "OMIM:263520", "pred": "RO:0002200", "obj": "HP:0000054"}, {"sub": "planteome:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "RO:0002558", "obj": "ECO:0000220"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "planteome:3621885ca376487ddee550f12863fa871776daa5", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0000054"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "planteome:c2c236909eb3a1b6ad14e789b93aa3e66516c7e7", "pred": "OBAN:association_has_object", "obj": "HP:0000054"}, {"sub": "planteome:c2c236909eb3a1b6ad14e789b93aa3e66516c7e7", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "planteome:3621885ca376487ddee550f12863fa871776daa5", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"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": ":.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/omim.ttl", "http://data.planteomeinitiative.org/ttl/clinvar.ttl", "http://data.planteomeinitiative.org/ttl/hpoa.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": "Microglossia", "deprecated": null, "id": "HP:0000171", "description": null, "consider": null}, "id": "5a3d1c51-affe-4b60-8156-a5fae9a28473", "type": null, "evidence_graph": {"nodes": [{"lbl": null, "id": "planteome:a34aaccc6917f372f9de8c9d0d7a143bb327026b"}, {"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": "Microglossia", "id": "HP:0000171"}, {"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": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "planteome:a34aaccc6917f372f9de8c9d0d7a143bb327026b", "pred": "OBAN:association_has_subject", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "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": "planteome:a34aaccc6917f372f9de8c9d0d7a143bb327026b", "pred": "OBAN:association_has_object", "obj": "HP:0000171"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "planteome:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "RO:0002558", "obj": "ECO:0000220"}, {"sub": "planteome:a34aaccc6917f372f9de8c9d0d7a143bb327026b", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"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": ":.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": "OMIM:263520", "pred": "RO:0002200", "obj": "HP:0000171"}, {"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/omim.ttl", "http://data.planteomeinitiative.org/ttl/clinvar.ttl", "http://data.planteomeinitiative.org/ttl/hpoa.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": "Renal cyst", "deprecated": null, "id": "HP:0000107", "description": null, "consider": null}, "id": "f3ec6229-327f-4f4d-8f78-c8ff66b298f9", "type": null, "evidence_graph": {"nodes": [{"lbl": null, "id": "planteome:f3d1a78c676089c1a2897c3394ab8d27a9ad637a"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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"}, {"lbl": "Renal cyst", "id": "HP:0000107"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "planteome:f3d1a78c676089c1a2897c3394ab8d27a9ad637a", "pred": "OBAN:association_has_object", "obj": "HP:0000107"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "planteome:f3d1a78c676089c1a2897c3394ab8d27a9ad637a", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "planteome:f3d1a78c676089c1a2897c3394ab8d27a9ad637a", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0000107"}]}, "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", "http://data.planteomeinitiative.org/ttl/hpoa.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": "Hepatic fibrosis", "deprecated": null, "id": "HP:0001395", "description": null, "consider": null}, "id": "799e2598-bdce-4a4a-b3e9-e80c0581366d", "type": null, "evidence_graph": {"nodes": [{"lbl": null, "id": "planteome:47727a5e76e92067f57b32b77c0e87e04389577d"}, {"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": "Hepatic fibrosis", "id": "HP:0001395"}, {"lbl": "NM_001199397.1(NEK1):c.869-2A>G", "id": "ClinVarVariant:30429"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "OMIM:263520", "pred": "RO:0002200", "obj": "HP:0001395"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "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": "ClinVarVariant:30429", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "planteome:47727a5e76e92067f57b32b77c0e87e04389577d", "pred": "OBAN:association_has_subject", "obj": "OMIM:263520"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "planteome:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "RO:0002558", "obj": "ECO:0000220"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "planteome:47727a5e76e92067f57b32b77c0e87e04389577d", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "planteome:47727a5e76e92067f57b32b77c0e87e04389577d", "pred": "OBAN:association_has_object", "obj": "HP:0001395"}, {"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": ":.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/omim.ttl", "http://data.planteomeinitiative.org/ttl/clinvar.ttl", "http://data.planteomeinitiative.org/ttl/hpoa.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": "Respiratory insufficiency", "deprecated": null, "id": "HP:0002093", "description": null, "consider": null}, "id": "530da1bc-5585-4466-9dd8-425e51e7d31f", "type": null, "evidence_graph": {"nodes": [{"lbl": "Respiratory insufficiency", "id": "HP:0002093"}, {"lbl": null, "id": "planteome:1cba9be1e4ed321ba86af44bcb19d06ca12b30e2"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0002093"}, {"sub": "planteome:1cba9be1e4ed321ba86af44bcb19d06ca12b30e2", "pred": "OBAN:association_has_object", "obj": "HP:0002093"}, {"sub": "planteome:1cba9be1e4ed321ba86af44bcb19d06ca12b30e2", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "planteome:1cba9be1e4ed321ba86af44bcb19d06ca12b30e2", "pred": "OBAN:association_has_subject", "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", "http://data.planteomeinitiative.org/ttl/hpoa.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 stature", "deprecated": null, "id": "HP:0004322", "description": null, "consider": null}, "id": "791408cc-4619-41c5-9d37-44c83d1b69b3", "type": null, "evidence_graph": {"nodes": [{"lbl": null, "id": "planteome:14ab27809d27388fd8ab18928b1da35b44f65758"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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"}, {"lbl": "Short stature", "id": "HP:0004322"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:14ab27809d27388fd8ab18928b1da35b44f65758", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:14ab27809d27388fd8ab18928b1da35b44f65758", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0004322"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:14ab27809d27388fd8ab18928b1da35b44f65758", "pred": "OBAN:association_has_object", "obj": "HP:0004322"}]}, "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Metaphyseal widening", "deprecated": null, "id": "HP:0003016", "description": null, "consider": null}, "id": "1dae1f79-0d13-4ab6-84d9-5bc443ce736d", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": null, "id": "MONARCH:a41b5e06779528e4f7fdb12c4d3ffeb7fe18c334"}, {"lbl": "NM_001199397.1(NEK1):c.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"lbl": "Metaphyseal widening", "id": "HP:0003016"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:a41b5e06779528e4f7fdb12c4d3ffeb7fe18c334", "pred": "OBAN:association_has_object", "obj": "HP:0003016"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0003016"}, {"sub": "MONARCH:a41b5e06779528e4f7fdb12c4d3ffeb7fe18c334", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "MONARCH:a41b5e06779528e4f7fdb12c4d3ffeb7fe18c334", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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 ribs", "deprecated": null, "id": "HP:0000773", "description": null, "consider": null}, "id": "25411639-3a33-4603-bbbc-99a68dd1b997", "type": null, "evidence_graph": {"nodes": [{"lbl": null, "id": "MONARCH:a7ee904a002863607177e4e93fa491744cb137a5"}, {"lbl": "some variant of NEK1 that causes Short-rib thoracic dysplasia 6 with or without polydactyly", "id": ":.well-known/genid/OMIM604588-263520VL"}, {"lbl": null, "id": "MONARCH:5044fffb5e62db6331dab509aeaeed2bf8fb11a6"}, {"lbl": "NM_001199397.1(NEK1):c.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"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": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"lbl": "Short-rib thoracic dysplasia 3 with or without polydactyly", "id": "OMIM:613091"}, {"lbl": null, "id": "MONARCH:17f2ba821307b84dbf39f4225487945666a764b4"}, {"lbl": "NM_001199397.1(NEK1):c.1690_1691delAT (p.Met564Valfs)", "id": "ClinVarVariant:191325"}, {"lbl": "NM_001199397.1(NEK1):c.3107C>G (p.Ser1036Ter)", "id": "ClinVarVariant:208600"}, {"lbl": "Short ribs", "id": "HP:0000773"}, {"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": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b"}], "edges": [{"sub": "MONARCH:17f2ba821307b84dbf39f4225487945666a764b4", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "MONARCH:17f2ba821307b84dbf39f4225487945666a764b4", "pred": "OBAN:association_has_object", "obj": "HP:0000773"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:5044fffb5e62db6331dab509aeaeed2bf8fb11a6", "pred": "OBAN:association_has_object", "obj": "HP:0000773"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "RO:0002558", "obj": "ECO:0000220"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:a7ee904a002863607177e4e93fa491744cb137a5", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "MONARCH:a7ee904a002863607177e4e93fa491744cb137a5", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:a7ee904a002863607177e4e93fa491744cb137a5", "pred": "OBAN:association_has_object", "obj": "HP:0000773"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:17f2ba821307b84dbf39f4225487945666a764b4", "pred": "OBAN:association_has_subject", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "OMIM:263520", "pred": "RO:0002200", "obj": "HP:0000773"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0000773"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_object", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "RO:0002200", "obj": "OMIM:263520"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_subject", "obj": ":.well-known/genid/OMIM604588-263520VL"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0000773"}, {"sub": "MONARCH:5044fffb5e62db6331dab509aeaeed2bf8fb11a6", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000841", "obj": "OMIM:263520"}, {"sub": "MONARCH:5044fffb5e62db6331dab509aeaeed2bf8fb11a6", "pred": "OBAN:association_has_subject", "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": ["https://data.monarchinitiative.org/ttl/omim.ttl", "http://data.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Facial cleft", "deprecated": null, "id": "HP:0002006", "description": null, "consider": null}, "id": "b99f66b2-56f6-465f-967c-c4d00d3c994a", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "Facial cleft", "id": "HP:0002006"}, {"lbl": "NM_001199397.1(NEK1):c.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"lbl": null, "id": "MONARCH:42c460ec31f87bf93351728299816839c4a7d775"}], "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": "MONARCH:42c460ec31f87bf93351728299816839c4a7d775", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "MONARCH:42c460ec31f87bf93351728299816839c4a7d775", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:42c460ec31f87bf93351728299816839c4a7d775", "pred": "OBAN:association_has_object", "obj": "HP:0002006"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0002006"}]}, "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Bifid tongue", "deprecated": null, "id": "HP:0010297", "description": null, "consider": null}, "id": "a797c0b2-04c2-4925-8eb3-d35e9411ee83", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": null, "id": "MONARCH:5a4595d3e9315655a99738332912b5c6ec0d4734"}, {"lbl": "NEK1", "id": "NCBIGene:4750"}, {"lbl": null, "id": "MONARCH:272cf76b67ac9957317b38e4dcbff97c861fe72c"}, {"lbl": "NM_001199397.1(NEK1):c.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"lbl": "Bifid tongue", "id": "HP:0010297"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:5a4595d3e9315655a99738332912b5c6ec0d4734", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0010297"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:272cf76b67ac9957317b38e4dcbff97c861fe72c", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "MONARCH:272cf76b67ac9957317b38e4dcbff97c861fe72c", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "MONARCH:5a4595d3e9315655a99738332912b5c6ec0d4734", "pred": "OBAN:association_has_object", "obj": "HP:0010297"}, {"sub": "MONARCH:5a4595d3e9315655a99738332912b5c6ec0d4734", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0010297"}, {"sub": "MONARCH:272cf76b67ac9957317b38e4dcbff97c861fe72c", "pred": "OBAN:association_has_object", "obj": "HP:0010297"}]}, "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Narrow chest", "deprecated": null, "id": "HP:0000774", "description": null, "consider": null}, "id": "b3ba17f8-26e2-4413-8c48-eace7961c5f7", "type": null, "evidence_graph": {"nodes": [{"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.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"lbl": null, "id": "MONARCH:5dcecee363956c62e3c07aae4f206dc5073a0117"}, {"lbl": "NM_001199397.1(NEK1):c.433G>A (p.Gly145Arg)", "id": "ClinVarVariant:40072"}, {"lbl": "sequencing assay evidence", "id": "ECO:0000220"}, {"lbl": "Narrow chest", "id": "HP:0000774"}, {"lbl": "NM_001199397.1(NEK1):c.869-2A>G", "id": "ClinVarVariant:30429"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"lbl": "Short-rib thoracic dysplasia 3 with or without polydactyly", "id": "OMIM:613091"}, {"lbl": null, "id": "MONARCH:c39d178a11b525dbc9047ad0c737894d5edc5ac8"}, {"lbl": "NM_001199397.1(NEK1):c.1690_1691delAT (p.Met564Valfs)", "id": "ClinVarVariant:191325"}, {"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": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b"}], "edges": [{"sub": "ClinVarVariant:30428", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:c39d178a11b525dbc9047ad0c737894d5edc5ac8", "pred": "OBAN:association_has_object", "obj": "HP:0000774"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:5dcecee363956c62e3c07aae4f206dc5073a0117", "pred": "OBAN:association_has_object", "obj": "HP:0000774"}, {"sub": "OMIM:263520", "pred": "RO:0002200", "obj": "HP:0000774"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "RO:0002558", "obj": "ECO:0000220"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:5dcecee363956c62e3c07aae4f206dc5073a0117", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "MONARCH:c39d178a11b525dbc9047ad0c737894d5edc5ac8", "pred": "OBAN:association_has_subject", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "MONARCH:c39d178a11b525dbc9047ad0c737894d5edc5ac8", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_object", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "RO:0002200", "obj": "OMIM:263520"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_subject", "obj": ":.well-known/genid/OMIM604588-263520VL"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0000774"}, {"sub": "MONARCH:5dcecee363956c62e3c07aae4f206dc5073a0117", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"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.monarchinitiative.org/ttl/omim.ttl", "http://data.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Hydronephrosis", "deprecated": null, "id": "HP:0000126", "description": null, "consider": null}, "id": "1ba4636d-e398-4d85-ada1-0f084bac5128", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "Hydronephrosis", "id": "HP:0000126"}, {"lbl": "NM_001199397.1(NEK1):c.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"lbl": null, "id": "MONARCH:da6f47f066eebd7bb8f703aa6b3d4c32bfa67d9d"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:da6f47f066eebd7bb8f703aa6b3d4c32bfa67d9d", "pred": "OBAN:association_has_object", "obj": "HP:0000126"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:da6f47f066eebd7bb8f703aa6b3d4c32bfa67d9d", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "MONARCH:da6f47f066eebd7bb8f703aa6b3d4c32bfa67d9d", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0000126"}]}, "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Hypoplasia of the ulna", "deprecated": null, "id": "HP:0003022", "description": null, "consider": null}, "id": "91805353-9f79-4651-83c3-4a6e3c04840e", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": null, "id": "MONARCH:bd326efca2035bf1fcca7a7c9060e4adc031589e"}, {"lbl": "Hypoplasia of the ulna", "id": "HP:0003022"}, {"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": "MONARCH:bd326efca2035bf1fcca7a7c9060e4adc031589e", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0003022"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:bd326efca2035bf1fcca7a7c9060e4adc031589e", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "MONARCH:bd326efca2035bf1fcca7a7c9060e4adc031589e", "pred": "OBAN:association_has_object", "obj": "HP:0003022"}, {"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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Hypoplasia of penis", "deprecated": null, "id": "HP:0008736", "description": null, "consider": null}, "id": "3bddedbb-5a40-41b5-8960-17e7073a3c0b", "type": null, "evidence_graph": {"nodes": [{"lbl": "Hypoplasia of penis", "id": "HP:0008736"}, {"lbl": null, "id": "MONARCH:79e961a8d381a4a87efba47f6a4bf74713c929b0"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0008736"}, {"sub": "MONARCH:79e961a8d381a4a87efba47f6a4bf74713c929b0", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:79e961a8d381a4a87efba47f6a4bf74713c929b0", "pred": "OBAN:association_has_object", "obj": "HP:0008736"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:79e961a8d381a4a87efba47f6a4bf74713c929b0", "pred": "OBAN:association_has_subject", "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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 palm", "deprecated": null, "id": "HP:0004279", "description": null, "consider": null}, "id": "e01405c8-185b-400f-98ac-a8d071f8c45e", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "Short palm", "id": "HP:0004279"}, {"lbl": "NEK1", "id": "NCBIGene:4750"}, {"lbl": "NM_001199397.1(NEK1):c.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"lbl": null, "id": "MONARCH:e1a583fa3582d843dadb7e70228da0dfa72f462d"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:e1a583fa3582d843dadb7e70228da0dfa72f462d", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "MONARCH:e1a583fa3582d843dadb7e70228da0dfa72f462d", "pred": "OBAN:association_has_object", "obj": "HP:0004279"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:e1a583fa3582d843dadb7e70228da0dfa72f462d", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0004279"}]}, "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Horizontal ribs", "deprecated": null, "id": "HP:0000888", "description": null, "consider": null}, "id": "955b8032-6b7d-460b-bc4f-970a7e8d0b15", "type": null, "evidence_graph": {"nodes": [{"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.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"lbl": "NM_001199397.1(NEK1):c.117+1G>A", "id": "ClinVarVariant:195286"}, {"lbl": null, "id": "MONARCH:b9d8489c9fd7a4975e02f1bc6a5962ab0e2462e7"}, {"lbl": "NM_001199397.1(NEK1):c.433G>A (p.Gly145Arg)", "id": "ClinVarVariant:40072"}, {"lbl": "sequencing assay evidence", "id": "ECO:0000220"}, {"lbl": "Horizontal ribs", "id": "HP:0000888"}, {"lbl": "NM_001199397.1(NEK1):c.869-2A>G", "id": "ClinVarVariant:30429"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "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": null, "id": "MONARCH:4275c1fd29ecf57114bdd6c14706a3784e6f9096"}, {"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": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b"}], "edges": [{"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": "MONARCH:b9d8489c9fd7a4975e02f1bc6a5962ab0e2462e7", "pred": "OBAN:association_has_object", "obj": "HP:0000888"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "RO:0002558", "obj": "ECO:0000220"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0000888"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:b9d8489c9fd7a4975e02f1bc6a5962ab0e2462e7", "pred": "OBAN:association_has_subject", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "MONARCH:b9d8489c9fd7a4975e02f1bc6a5962ab0e2462e7", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:4275c1fd29ecf57114bdd6c14706a3784e6f9096", "pred": "OBAN:association_has_object", "obj": "HP:0000888"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "MONARCH:4275c1fd29ecf57114bdd6c14706a3784e6f9096", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_object", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "OMIM:263520", "pred": "RO:0002200", "obj": "HP:0000888"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "RO:0002200", "obj": "OMIM:263520"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_subject", "obj": ":.well-known/genid/OMIM604588-263520VL"}, {"sub": "MONARCH:4275c1fd29ecf57114bdd6c14706a3784e6f9096", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"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.monarchinitiative.org/ttl/omim.ttl", "http://data.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Renal hypoplasia", "deprecated": null, "id": "HP:0000089", "description": null, "consider": null}, "id": "8e4f9250-7cc1-4068-899a-16f653bcca1e", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "Renal hypoplasia", "id": "HP:0000089"}, {"lbl": "NM_001199397.1(NEK1):c.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"lbl": null, "id": "MONARCH:3da10a3b463564de5fc90753c1cd127cd9864bd9"}], "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": "MONARCH:3da10a3b463564de5fc90753c1cd127cd9864bd9", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:3da10a3b463564de5fc90753c1cd127cd9864bd9", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0000089"}, {"sub": "MONARCH:3da10a3b463564de5fc90753c1cd127cd9864bd9", "pred": "OBAN:association_has_object", "obj": "HP:0000089"}]}, "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Agenesis of corpus callosum", "deprecated": null, "id": "HP:0001274", "description": null, "consider": null}, "id": "e049f0ef-135f-45f6-b6b3-79b415cb9e50", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "Agenesis of corpus callosum", "id": "HP:0001274"}, {"lbl": null, "id": "MONARCH:86618b73121382cad343ae581c7d6f950c6d85e2"}, {"lbl": "NM_001199397.1(NEK1):c.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"lbl": null, "id": "MONARCH:8e440abefcade13ddc4ff9b72b02bfff59c4828b"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:8e440abefcade13ddc4ff9b72b02bfff59c4828b", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:86618b73121382cad343ae581c7d6f950c6d85e2", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:8e440abefcade13ddc4ff9b72b02bfff59c4828b", "pred": "OBAN:association_has_object", "obj": "HP:0001274"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0001274"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0001274"}, {"sub": "MONARCH:86618b73121382cad343ae581c7d6f950c6d85e2", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "MONARCH:8e440abefcade13ddc4ff9b72b02bfff59c4828b", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "MONARCH:86618b73121382cad343ae581c7d6f950c6d85e2", "pred": "OBAN:association_has_object", "obj": "HP:0001274"}]}, "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Pancreatic fibrosis", "deprecated": null, "id": "HP:0100732", "description": null, "consider": null}, "id": "de810534-d18e-4508-80f4-62c76b3056e4", "type": null, "evidence_graph": {"nodes": [{"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": null, "id": "MONARCH:4dc88a7040812a7202dde5cac1f9ecbddd571f14"}, {"lbl": "NM_001199397.1(NEK1):c.869-2A>G", "id": "ClinVarVariant:30429"}, {"lbl": "NM_001199397.1(NEK1):c.3107C>G (p.Ser1036Ter)", "id": "ClinVarVariant:208600"}, {"lbl": "NEK1", "id": "NCBIGene:4750"}, {"lbl": "Pancreatic fibrosis", "id": "HP:0100732"}, {"lbl": "evidence used in automatic assertion", "id": "ECO:0000501"}, {"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": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b"}], "edges": [{"sub": "ClinVarVariant:40072", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "MONARCH:4dc88a7040812a7202dde5cac1f9ecbddd571f14", "pred": "RO:0002558", "obj": "ECO:0000501"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:4dc88a7040812a7202dde5cac1f9ecbddd571f14", "pred": "OBAN:association_has_object", "obj": "HP:0100732"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "RO:0002558", "obj": "ECO:0000220"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_object", "obj": "OMIM:263520"}, {"sub": "MONARCH:4dc88a7040812a7202dde5cac1f9ecbddd571f14", "pred": "OBAN:association_has_subject", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "RO:0002200", "obj": "OMIM:263520"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_subject", "obj": ":.well-known/genid/OMIM604588-263520VL"}, {"sub": "OMIM:263520", "pred": "RO:0002200", "obj": "HP:0100732"}, {"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.monarchinitiative.org/ttl/omim.ttl", "http://data.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Atrial septal defect", "deprecated": null, "id": "HP:0001631", "description": null, "consider": null}, "id": "798a5e29-c030-400b-8cf9-2706023eb593", "type": null, "evidence_graph": {"nodes": [{"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": null, "id": "MONARCH:8130425d72e4571bef6dbd70623cbfd6f183a2d1"}, {"lbl": "Atrial septal defect", "id": "HP:0001631"}, {"lbl": "NM_001199397.1(NEK1):c.869-2A>G", "id": "ClinVarVariant:30429"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b"}], "edges": [{"sub": "ClinVarVariant:40072", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:8130425d72e4571bef6dbd70623cbfd6f183a2d1", "pred": "OBAN:association_has_object", "obj": "HP:0001631"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:8130425d72e4571bef6dbd70623cbfd6f183a2d1", "pred": "OBAN:association_has_subject", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "MONARCH:8130425d72e4571bef6dbd70623cbfd6f183a2d1", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "RO:0002558", "obj": "ECO:0000220"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_object", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "RO:0002200", "obj": "OMIM:263520"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_subject", "obj": ":.well-known/genid/OMIM604588-263520VL"}, {"sub": "OMIM:263520", "pred": "RO:0002200", "obj": "HP:0001631"}, {"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.monarchinitiative.org/ttl/omim.ttl", "http://data.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Ambiguous genitalia", "deprecated": null, "id": "HP:0000062", "description": null, "consider": null}, "id": "8a6ee665-7368-4c45-8e58-c312bcd7b47a", "type": null, "evidence_graph": {"nodes": [{"lbl": null, "id": "MONARCH:f1fe3e11bd77bbaa9478cbeada8df35dc75ebc55"}, {"lbl": "some variant of NEK1 that causes Short-rib thoracic dysplasia 6 with or without polydactyly", "id": ":.well-known/genid/OMIM604588-263520VL"}, {"lbl": null, "id": "MONARCH:cb198ef2291fe5cc447313e99d14775dfccf8266"}, {"lbl": "Ambiguous genitalia", "id": "HP:0000062"}, {"lbl": "NM_001199397.1(NEK1):c.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"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": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "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": null, "id": "MONARCH:f9b6b0cd8b3acafdc66c20bd178ddf5fd4bdcb47"}, {"lbl": "short-rib thoracic dysplasia 6 with or without polydactyly", "id": "OMIM:263520"}, {"lbl": null, "id": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b"}], "edges": [{"sub": "ClinVarVariant:30428", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "MONARCH:f9b6b0cd8b3acafdc66c20bd178ddf5fd4bdcb47", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:f1fe3e11bd77bbaa9478cbeada8df35dc75ebc55", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "RO:0002558", "obj": "ECO:0000220"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:cb198ef2291fe5cc447313e99d14775dfccf8266", "pred": "OBAN:association_has_subject", "obj": "OMIM:263520"}, {"sub": "MONARCH:cb198ef2291fe5cc447313e99d14775dfccf8266", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "MONARCH:cb198ef2291fe5cc447313e99d14775dfccf8266", "pred": "OBAN:association_has_object", "obj": "HP:0000062"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "OMIM:263520", "pred": "RO:0002200", "obj": "HP:0000062"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0000062"}, {"sub": "MONARCH:f1fe3e11bd77bbaa9478cbeada8df35dc75ebc55", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "MONARCH:f1fe3e11bd77bbaa9478cbeada8df35dc75ebc55", "pred": "OBAN:association_has_object", "obj": "HP:0000062"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_object", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "RO:0002200", "obj": "OMIM:263520"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_subject", "obj": ":.well-known/genid/OMIM604588-263520VL"}, {"sub": "MONARCH:f9b6b0cd8b3acafdc66c20bd178ddf5fd4bdcb47", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0000062"}, {"sub": "MONARCH:f9b6b0cd8b3acafdc66c20bd178ddf5fd4bdcb47", "pred": "OBAN:association_has_object", "obj": "HP:0000062"}, {"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.monarchinitiative.org/ttl/omim.ttl", "http://data.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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 thorax", "deprecated": null, "id": "HP:0010306", "description": null, "consider": null}, "id": "2e1d353d-9f4d-4efd-8a50-62328c08925e", "type": null, "evidence_graph": {"nodes": [{"lbl": null, "id": "MONARCH:9bf552b981c0b9297782ffbf9b8e621431fdf52e"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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"}, {"lbl": "Short thorax", "id": "HP:0010306"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:9bf552b981c0b9297782ffbf9b8e621431fdf52e", "pred": "OBAN:association_has_object", "obj": "HP:0010306"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0010306"}, {"sub": "MONARCH:9bf552b981c0b9297782ffbf9b8e621431fdf52e", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "MONARCH:9bf552b981c0b9297782ffbf9b8e621431fdf52e", "pred": "OBAN:association_has_subject", "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Disproportionate short-limb short stature", "deprecated": null, "id": "HP:0008873", "description": null, "consider": null}, "id": "628ab6a4-e38f-44c9-933f-d3c25a88f5e7", "type": null, "evidence_graph": {"nodes": [{"lbl": "Disproportionate short-limb short stature", "id": "HP:0008873"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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"}, {"lbl": null, "id": "MONARCH:d914b33884a584eec722f283565f7fce801b197c"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0008873"}, {"sub": "MONARCH:d914b33884a584eec722f283565f7fce801b197c", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:d914b33884a584eec722f283565f7fce801b197c", "pred": "OBAN:association_has_object", "obj": "HP:0008873"}, {"sub": "MONARCH:d914b33884a584eec722f283565f7fce801b197c", "pred": "OBAN:association_has_subject", "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Cerebellar hypoplasia", "deprecated": null, "id": "HP:0001321", "description": null, "consider": null}, "id": "a10c8cd5-757e-4549-9afc-4b46c1f36634", "type": null, "evidence_graph": {"nodes": [{"lbl": null, "id": "MONARCH:77d5f8e7dca48fd77712ba66294f509311d1a9f9"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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"}, {"lbl": "Cerebellar hypoplasia", "id": "HP:0001321"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:77d5f8e7dca48fd77712ba66294f509311d1a9f9", "pred": "OBAN:association_has_object", "obj": "HP:0001321"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:77d5f8e7dca48fd77712ba66294f509311d1a9f9", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "MONARCH:77d5f8e7dca48fd77712ba66294f509311d1a9f9", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0001321"}]}, "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Cerebellar vermis hypoplasia", "deprecated": null, "id": "HP:0001320", "description": null, "consider": null}, "id": "1e126e66-77d9-4171-a5ee-9882307b9e71", "type": null, "evidence_graph": {"nodes": [{"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": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"lbl": "NM_001199397.1(NEK1):c.3107C>G (p.Ser1036Ter)", "id": "ClinVarVariant:208600"}, {"lbl": "NEK1", "id": "NCBIGene:4750"}, {"lbl": null, "id": "MONARCH:5c52c99ff2f91f8ea4abfbdec4e19ef91bc62bfb"}, {"lbl": "NM_001199397.1(NEK1):c.869-1G>T", "id": "ClinVarVariant:193892"}, {"lbl": "Cerebellar vermis hypoplasia", "id": "HP:0001320"}, {"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": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b"}], "edges": [{"sub": "OMIM:263520", "pred": "RO:0002200", "obj": "HP:0001320"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "MONARCH:5c52c99ff2f91f8ea4abfbdec4e19ef91bc62bfb", "pred": "OBAN:association_has_subject", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:5c52c99ff2f91f8ea4abfbdec4e19ef91bc62bfb", "pred": "OBAN:association_has_object", "obj": "HP:0001320"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:5c52c99ff2f91f8ea4abfbdec4e19ef91bc62bfb", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "RO:0002558", "obj": "ECO:0000220"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_object", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "RO:0002200", "obj": "OMIM:263520"}, {"sub": "MONARCH: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.monarchinitiative.org/ttl/omim.ttl", "http://data.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Pachygyria", "deprecated": null, "id": "HP:0001302", "description": null, "consider": null}, "id": "78931ccb-5839-4d9e-91ac-928bf330831a", "type": null, "evidence_graph": {"nodes": [{"lbl": null, "id": "MONARCH:f16316a1cd8e3911d680f8c5e73ca21b7c9e2bb1"}, {"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": "Pachygyria", "id": "HP:0001302"}, {"lbl": "NM_001199397.1(NEK1):c.869-2A>G", "id": "ClinVarVariant:30429"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b"}], "edges": [{"sub": "OMIM:263520", "pred": "RO:0002200", "obj": "HP:0001302"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:f16316a1cd8e3911d680f8c5e73ca21b7c9e2bb1", "pred": "OBAN:association_has_object", "obj": "HP:0001302"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:f16316a1cd8e3911d680f8c5e73ca21b7c9e2bb1", "pred": "OBAN:association_has_subject", "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": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "RO:0002558", "obj": "ECO:0000220"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_object", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "RO:0002200", "obj": "OMIM:263520"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_subject", "obj": ":.well-known/genid/OMIM604588-263520VL"}, {"sub": "MONARCH:f16316a1cd8e3911d680f8c5e73ca21b7c9e2bb1", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"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.monarchinitiative.org/ttl/omim.ttl", "http://data.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Thoracic hypoplasia", "deprecated": null, "id": "HP:0005257", "description": null, "consider": null}, "id": "b4b33d84-0a96-4deb-94a3-de500f0e4081", "type": null, "evidence_graph": {"nodes": [{"lbl": null, "id": "MONARCH:964bdf27256b54d8ddb9814fccd248bcc104e959"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "Thoracic hypoplasia", "id": "HP:0005257"}, {"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": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0005257"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:964bdf27256b54d8ddb9814fccd248bcc104e959", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:964bdf27256b54d8ddb9814fccd248bcc104e959", "pred": "OBAN:association_has_object", "obj": "HP:0005257"}, {"sub": "MONARCH:964bdf27256b54d8ddb9814fccd248bcc104e959", "pred": "OBAN:association_has_subject", "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Ventricular septal defect", "deprecated": null, "id": "HP:0001629", "description": null, "consider": null}, "id": "5d50ce6b-b865-432c-8172-ecbeeb9cad0d", "type": null, "evidence_graph": {"nodes": [{"lbl": "Ventricular septal defect", "id": "HP:0001629"}, {"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": null, "id": "MONARCH:41a4880c1f4a38e7c338106dc7ca4d7d5f051c75"}, {"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": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b"}], "edges": [{"sub": "OMIM:263520", "pred": "RO:0002200", "obj": "HP:0001629"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:41a4880c1f4a38e7c338106dc7ca4d7d5f051c75", "pred": "OBAN:association_has_subject", "obj": "OMIM:263520"}, {"sub": "MONARCH:41a4880c1f4a38e7c338106dc7ca4d7d5f051c75", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "RO:0002558", "obj": "ECO:0000220"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_object", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "RO:0002200", "obj": "OMIM:263520"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_subject", "obj": ":.well-known/genid/OMIM604588-263520VL"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000841", "obj": "OMIM:263520"}, {"sub": "MONARCH:41a4880c1f4a38e7c338106dc7ca4d7d5f051c75", "pred": "OBAN:association_has_object", "obj": "HP:0001629"}]}, "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.monarchinitiative.org/ttl/omim.ttl", "http://data.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Disproportionate shortening of the tibia", "deprecated": null, "id": "HP:0005766", "description": null, "consider": null}, "id": "db7b7ced-2b77-4e34-b458-65b1ab768af4", "type": null, "evidence_graph": {"nodes": [{"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": "Disproportionate shortening of the tibia", "id": "HP:0005766"}, {"lbl": "NM_001199397.1(NEK1):c.869-2A>G", "id": "ClinVarVariant:30429"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"lbl": "NM_001199397.1(NEK1):c.3107C>G (p.Ser1036Ter)", "id": "ClinVarVariant:208600"}, {"lbl": null, "id": "MONARCH:09d77b531d56ee7d6246eb3d14f6e90096638bd5"}, {"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": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b"}], "edges": [{"sub": "ClinVarVariant:40072", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "MONARCH:09d77b531d56ee7d6246eb3d14f6e90096638bd5", "pred": "OBAN:association_has_object", "obj": "HP:0005766"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:09d77b531d56ee7d6246eb3d14f6e90096638bd5", "pred": "OBAN:association_has_subject", "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": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "RO:0002558", "obj": "ECO:0000220"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_object", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "RO:0002200", "obj": "OMIM:263520"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_subject", "obj": ":.well-known/genid/OMIM604588-263520VL"}, {"sub": "MONARCH:09d77b531d56ee7d6246eb3d14f6e90096638bd5", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "OMIM:263520", "pred": "RO:0002200", "obj": "HP:0005766"}, {"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.monarchinitiative.org/ttl/omim.ttl", "http://data.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Congenital hepatic fibrosis", "deprecated": null, "id": "HP:0002612", "description": null, "consider": null}, "id": "1bbbd376-6b7b-4161-9520-77249776b16d", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "Congenital hepatic fibrosis", "id": "HP:0002612"}, {"lbl": "NM_001199397.1(NEK1):c.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"lbl": null, "id": "MONARCH:a62450fc73aa762848a5b07bf0f87c446a88dc62"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:a62450fc73aa762848a5b07bf0f87c446a88dc62", "pred": "OBAN:association_has_object", "obj": "HP:0002612"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0002612"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:a62450fc73aa762848a5b07bf0f87c446a88dc62", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "MONARCH:a62450fc73aa762848a5b07bf0f87c446a88dc62", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Scoliosis", "deprecated": null, "id": "HP:0002650", "description": null, "consider": null}, "id": "22492e4f-324c-40ce-8dcf-6c02a79a783f", "type": null, "evidence_graph": {"nodes": [{"lbl": "Scoliosis", "id": "HP:0002650"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"lbl": "Short-rib thoracic dysplasia 3 with or without polydactyly", "id": "OMIM:613091"}, {"lbl": null, "id": "MONARCH:4d685141d0178f5af2444424efcbfb7759641982"}, {"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": "MONARCH:4d685141d0178f5af2444424efcbfb7759641982", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:4d685141d0178f5af2444424efcbfb7759641982", "pred": "OBAN:association_has_object", "obj": "HP:0002650"}, {"sub": "MONARCH:4d685141d0178f5af2444424efcbfb7759641982", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0002650"}]}, "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Renal dysplasia", "deprecated": null, "id": "HP:0000110", "description": null, "consider": null}, "id": "b877d853-a41f-4c71-9522-ab76825d8a35", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": null, "id": "MONARCH:5f104855569b523d882c1d022dca15c2ac759a97"}, {"lbl": "NM_001199397.1(NEK1):c.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"lbl": "Renal dysplasia", "id": "HP:0000110"}], "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": "MONARCH:5f104855569b523d882c1d022dca15c2ac759a97", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "MONARCH:5f104855569b523d882c1d022dca15c2ac759a97", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0000110"}, {"sub": "MONARCH:5f104855569b523d882c1d022dca15c2ac759a97", "pred": "OBAN:association_has_object", "obj": "HP:0000110"}]}, "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Abnormal pelvis bone ossification", "deprecated": null, "id": "HP:0009106", "description": null, "consider": null}, "id": "29e2448d-cd22-4147-b7ad-e55e8f513a2b", "type": null, "evidence_graph": {"nodes": [{"lbl": null, "id": "MONARCH:cb785a37f45682efbcbf6d6207f31a1e9dbde11d"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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"}, {"lbl": "Abnormal pelvis bone ossification", "id": "HP:0009106"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:cb785a37f45682efbcbf6d6207f31a1e9dbde11d", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0009106"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:cb785a37f45682efbcbf6d6207f31a1e9dbde11d", "pred": "OBAN:association_has_object", "obj": "HP:0009106"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:cb785a37f45682efbcbf6d6207f31a1e9dbde11d", "pred": "RO:0002558", "obj": "ECO:0000304"}]}, "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Preaxial hand polydactyly", "deprecated": null, "id": "HP:0001177", "description": null, "consider": null}, "id": "7e029560-4082-4480-80ca-9ed89cd47acc", "type": null, "evidence_graph": {"nodes": [{"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.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"lbl": null, "id": "MONARCH:faadc3f92b73b04ad29f4c85f2493589b9ef5e05"}, {"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": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "NM_001199397.1(NEK1):c.3107C>G (p.Ser1036Ter)", "id": "ClinVarVariant:208600"}, {"lbl": "Preaxial hand polydactyly", "id": "HP:0001177"}, {"lbl": "NEK1", "id": "NCBIGene:4750"}, {"lbl": "NM_001199397.1(NEK1):c.869-1G>T", "id": "ClinVarVariant:193892"}, {"lbl": null, "id": "MONARCH:d81c9f332532e9f6cdcd7eb619b3188d9ebc8382"}, {"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": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b"}], "edges": [{"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": "OMIM:263520", "pred": "RO:0002200", "obj": "HP:0001177"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "RO:0002558", "obj": "ECO:0000220"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:d81c9f332532e9f6cdcd7eb619b3188d9ebc8382", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "MONARCH:faadc3f92b73b04ad29f4c85f2493589b9ef5e05", "pred": "OBAN:association_has_subject", "obj": "OMIM:263520"}, {"sub": "MONARCH:faadc3f92b73b04ad29f4c85f2493589b9ef5e05", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:d81c9f332532e9f6cdcd7eb619b3188d9ebc8382", "pred": "OBAN:association_has_object", "obj": "HP:0001177"}, {"sub": "MONARCH:faadc3f92b73b04ad29f4c85f2493589b9ef5e05", "pred": "OBAN:association_has_object", "obj": "HP:0001177"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0001177"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_object", "obj": "OMIM:263520"}, {"sub": "MONARCH:d81c9f332532e9f6cdcd7eb619b3188d9ebc8382", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "RO:0002200", "obj": "OMIM:263520"}, {"sub": "MONARCH: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.monarchinitiative.org/ttl/omim.ttl", "http://data.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Multicystic kidney dysplasia", "deprecated": null, "id": "HP:0000003", "description": null, "consider": null}, "id": "90f1db35-a696-456d-a628-7c58c86cf66d", "type": null, "evidence_graph": {"nodes": [{"lbl": "some variant of NEK1 that causes Short-rib thoracic dysplasia 6 with or without polydactyly", "id": ":.well-known/genid/OMIM604588-263520VL"}, {"lbl": null, "id": "MONARCH:2daba78b7412aa2e0af3ead846feb490bcda31b1"}, {"lbl": "Multicystic kidney dysplasia", "id": "HP:0000003"}, {"lbl": "NM_001199397.1(NEK1):c.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"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": "MONARCH:fd3a25f2845e06b16423729ad2f2d5709b0f1461"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "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": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b"}], "edges": [{"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0000003"}, {"sub": "MONARCH:fd3a25f2845e06b16423729ad2f2d5709b0f1461", "pred": "OBAN:association_has_object", "obj": "HP:0000003"}, {"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": "MONARCH:2daba78b7412aa2e0af3ead846feb490bcda31b1", "pred": "OBAN:association_has_object", "obj": "HP:0000003"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "RO:0002558", "obj": "ECO:0000220"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:fd3a25f2845e06b16423729ad2f2d5709b0f1461", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "MONARCH:fd3a25f2845e06b16423729ad2f2d5709b0f1461", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "OMIM:263520", "pred": "RO:0002200", "obj": "HP:0000003"}, {"sub": "MONARCH:2daba78b7412aa2e0af3ead846feb490bcda31b1", "pred": "OBAN:association_has_subject", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_object", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:2daba78b7412aa2e0af3ead846feb490bcda31b1", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "RO:0002200", "obj": "OMIM:263520"}, {"sub": "MONARCH: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.monarchinitiative.org/ttl/omim.ttl", "http://data.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Cataract", "deprecated": null, "id": "HP:0000518", "description": null, "consider": null}, "id": "32a9aa5b-e59e-4d66-993e-0f8e8d7b3911", "type": null, "evidence_graph": {"nodes": [{"lbl": "Cataract", "id": "HP:0000518"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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"}, {"lbl": null, "id": "MONARCH:889e702638ea89007f038e7e8f615c1c90c9727b"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:889e702638ea89007f038e7e8f615c1c90c9727b", "pred": "OBAN:association_has_object", "obj": "HP:0000518"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:889e702638ea89007f038e7e8f615c1c90c9727b", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0000518"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:889e702638ea89007f038e7e8f615c1c90c9727b", "pred": "OBAN:association_has_subject", "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Esophageal atresia", "deprecated": null, "id": "HP:0002032", "description": null, "consider": null}, "id": "72fc0cff-e2bd-4312-a500-bb6c1c02e763", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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"}, {"lbl": "Esophageal atresia", "id": "HP:0002032"}, {"lbl": null, "id": "MONARCH:22f8205d7ba0b3d2659f56893c7fc9bec04d07e6"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:22f8205d7ba0b3d2659f56893c7fc9bec04d07e6", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:22f8205d7ba0b3d2659f56893c7fc9bec04d07e6", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "MONARCH:22f8205d7ba0b3d2659f56893c7fc9bec04d07e6", "pred": "OBAN:association_has_object", "obj": "HP:0002032"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0002032"}]}, "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Hamartoma of tongue", "deprecated": null, "id": "HP:0011802", "description": null, "consider": null}, "id": "5d7dd6fb-e857-4ea7-be46-66ecb54ba71f", "type": null, "evidence_graph": {"nodes": [{"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": null, "id": "MONARCH:92f82e3519f58056b8d966ac26f4879fe18e7fcf"}, {"lbl": "NM_001199397.1(NEK1):c.869-2A>G", "id": "ClinVarVariant:30429"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "Hamartoma of tongue", "id": "HP:0011802"}, {"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": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b"}], "edges": [{"sub": "ClinVarVariant:40072", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:92f82e3519f58056b8d966ac26f4879fe18e7fcf", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "MONARCH:92f82e3519f58056b8d966ac26f4879fe18e7fcf", "pred": "OBAN:association_has_subject", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "RO:0002558", "obj": "ECO:0000220"}, {"sub": "MONARCH:92f82e3519f58056b8d966ac26f4879fe18e7fcf", "pred": "OBAN:association_has_object", "obj": "HP:0011802"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_object", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "RO:0002200", "obj": "OMIM:263520"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_subject", "obj": ":.well-known/genid/OMIM604588-263520VL"}, {"sub": "OMIM:263520", "pred": "RO:0002200", "obj": "HP:0011802"}, {"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.monarchinitiative.org/ttl/omim.ttl", "http://data.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Hydrops fetalis", "deprecated": null, "id": "HP:0001789", "description": null, "consider": null}, "id": "6c461728-8187-4bd8-97de-e8fdd9163b80", "type": null, "evidence_graph": {"nodes": [{"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.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"lbl": "Hydrops fetalis", "id": "HP:0001789"}, {"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": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"lbl": "Short-rib thoracic dysplasia 3 with or without polydactyly", "id": "OMIM:613091"}, {"lbl": null, "id": "MONARCH:2a8bdf31cc03f002f6854f2965c7849cf8be690a"}, {"lbl": "NM_001199397.1(NEK1):c.1690_1691delAT (p.Met564Valfs)", "id": "ClinVarVariant:191325"}, {"lbl": "NM_001199397.1(NEK1):c.3107C>G (p.Ser1036Ter)", "id": "ClinVarVariant:208600"}, {"lbl": null, "id": "MONARCH:1f27d309a01e7f9047ec7643e33687f791a502a4"}, {"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": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b"}], "edges": [{"sub": "ClinVarVariant:30428", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "MONARCH:2a8bdf31cc03f002f6854f2965c7849cf8be690a", "pred": "OBAN:association_has_object", "obj": "HP:0001789"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "RO:0002558", "obj": "ECO:0000220"}, {"sub": "MONARCH:1f27d309a01e7f9047ec7643e33687f791a502a4", "pred": "OBAN:association_has_subject", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:2a8bdf31cc03f002f6854f2965c7849cf8be690a", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0001789"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "OMIM:263520", "pred": "RO:0002200", "obj": "HP:0001789"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:1f27d309a01e7f9047ec7643e33687f791a502a4", "pred": "OBAN:association_has_object", "obj": "HP:0001789"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:1f27d309a01e7f9047ec7643e33687f791a502a4", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_object", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "RO:0002200", "obj": "OMIM:263520"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_subject", "obj": ":.well-known/genid/OMIM604588-263520VL"}, {"sub": "MONARCH:2a8bdf31cc03f002f6854f2965c7849cf8be690a", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"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.monarchinitiative.org/ttl/omim.ttl", "http://data.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Brachycephaly", "deprecated": null, "id": "HP:0000248", "description": null, "consider": null}, "id": "bece1470-d5d1-4d50-b18a-1d49260797ee", "type": null, "evidence_graph": {"nodes": [{"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": "MONARCH:d1a9dc8c9b4d79d0dae509d56ae73fb76d98367d"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "Brachycephaly", "id": "HP:0000248"}, {"lbl": null, "id": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b"}], "edges": [{"sub": "ClinVarVariant:40072", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "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": "ClinVarVariant:30429", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:d1a9dc8c9b4d79d0dae509d56ae73fb76d98367d", "pred": "OBAN:association_has_object", "obj": "HP:0000248"}, {"sub": "MONARCH:d1a9dc8c9b4d79d0dae509d56ae73fb76d98367d", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "RO:0002558", "obj": "ECO:0000220"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:d1a9dc8c9b4d79d0dae509d56ae73fb76d98367d", "pred": "OBAN:association_has_subject", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_object", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "RO:0002200", "obj": "OMIM:263520"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_subject", "obj": ":.well-known/genid/OMIM604588-263520VL"}, {"sub": "OMIM:263520", "pred": "RO:0002200", "obj": "HP:0000248"}, {"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.monarchinitiative.org/ttl/omim.ttl", "http://data.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Pulmonary hypoplasia", "deprecated": null, "id": "HP:0002089", "description": null, "consider": null}, "id": "dd0382c3-eec5-4769-bc26-f4fcda9d332f", "type": null, "evidence_graph": {"nodes": [{"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.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"lbl": "NM_001199397.1(NEK1):c.433G>A (p.Gly145Arg)", "id": "ClinVarVariant:40072"}, {"lbl": "sequencing assay evidence", "id": "ECO:0000220"}, {"lbl": null, "id": "MONARCH:c3a4db7166a58ccea07b202f1da232544dc77a59"}, {"lbl": "Pulmonary hypoplasia", "id": "HP:0002089"}, {"lbl": "NM_001199397.1(NEK1):c.869-2A>G", "id": "ClinVarVariant:30429"}, {"lbl": null, "id": "MONARCH:5329fa6f4cc3dd936c6b1e3403f2f329524f22aa"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "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": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b"}], "edges": [{"sub": "ClinVarVariant:30428", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "MONARCH:c3a4db7166a58ccea07b202f1da232544dc77a59", "pred": "OBAN:association_has_subject", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "RO:0002558", "obj": "ECO:0000220"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:5329fa6f4cc3dd936c6b1e3403f2f329524f22aa", "pred": "OBAN:association_has_object", "obj": "HP:0002089"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "MONARCH:5329fa6f4cc3dd936c6b1e3403f2f329524f22aa", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:c3a4db7166a58ccea07b202f1da232544dc77a59", "pred": "OBAN:association_has_object", "obj": "HP:0002089"}, {"sub": "OMIM:263520", "pred": "RO:0002200", "obj": "HP:0002089"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_object", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "RO:0002200", "obj": "OMIM:263520"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0002089"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_subject", "obj": ":.well-known/genid/OMIM604588-263520VL"}, {"sub": "MONARCH:5329fa6f4cc3dd936c6b1e3403f2f329524f22aa", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "MONARCH:c3a4db7166a58ccea07b202f1da232544dc77a59", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"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.monarchinitiative.org/ttl/omim.ttl", "http://data.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Preaxial polydactyly", "deprecated": null, "id": "HP:0100258", "description": null, "consider": null}, "id": "3e0759fd-d2a0-49b8-b4c2-ede5be27416f", "type": null, "evidence_graph": {"nodes": [{"lbl": null, "id": "MONARCH:398f3e9f4b4187c3d4d2606d4fbcc322e2e6d50c"}, {"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": "evidence used in automatic assertion", "id": "ECO:0000501"}, {"lbl": "NM_001199397.1(NEK1):c.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"lbl": "Preaxial polydactyly", "id": "HP:0100258"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:398f3e9f4b4187c3d4d2606d4fbcc322e2e6d50c", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:398f3e9f4b4187c3d4d2606d4fbcc322e2e6d50c", "pred": "RO:0002558", "obj": "ECO:0000501"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:398f3e9f4b4187c3d4d2606d4fbcc322e2e6d50c", "pred": "OBAN:association_has_object", "obj": "HP:0100258"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0100258"}, {"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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Cone-shaped epiphysis", "deprecated": null, "id": "HP:0010579", "description": null, "consider": null}, "id": "496fea37-af85-429e-999d-2de05c08f5ee", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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"}, {"lbl": null, "id": "MONARCH:d0b03c3a2305090bf769955dbcc0415699c948b7"}, {"lbl": "Cone-shaped epiphysis", "id": "HP:0010579"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0010579"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:d0b03c3a2305090bf769955dbcc0415699c948b7", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "MONARCH:d0b03c3a2305090bf769955dbcc0415699c948b7", "pred": "OBAN:association_has_object", "obj": "HP:0010579"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:d0b03c3a2305090bf769955dbcc0415699c948b7", "pred": "RO:0002558", "obj": "ECO:0000304"}]}, "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Fibular hypoplasia", "deprecated": null, "id": "HP:0003038", "description": null, "consider": null}, "id": "9fb837ed-d98a-441d-bde8-601f12b7ec0a", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"lbl": "Short-rib thoracic dysplasia 3 with or without polydactyly", "id": "OMIM:613091"}, {"lbl": "Fibular hypoplasia", "id": "HP:0003038"}, {"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"}, {"lbl": null, "id": "MONARCH:eb2b81f113c893bc5da28a105b473d05c1bbc185"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0003038"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:eb2b81f113c893bc5da28a105b473d05c1bbc185", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:eb2b81f113c893bc5da28a105b473d05c1bbc185", "pred": "OBAN:association_has_object", "obj": "HP:0003038"}, {"sub": "MONARCH:eb2b81f113c893bc5da28a105b473d05c1bbc185", "pred": "OBAN:association_has_subject", "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Epicanthus", "deprecated": null, "id": "HP:0000286", "description": null, "consider": null}, "id": "3cbbabd4-5539-49e6-bc59-bc1ca370400f", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": null, "id": "MONARCH:0064ad46724d4dc47889a55c073129b7f8d05549"}, {"lbl": "NM_001199397.1(NEK1):c.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"lbl": "Epicanthus", "id": "HP:0000286"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0000286"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:0064ad46724d4dc47889a55c073129b7f8d05549", "pred": "OBAN:association_has_object", "obj": "HP:0000286"}, {"sub": "MONARCH:0064ad46724d4dc47889a55c073129b7f8d05549", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:0064ad46724d4dc47889a55c073129b7f8d05549", "pred": "OBAN:association_has_subject", "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Hypoplasia of the epiglottis", "deprecated": null, "id": "HP:0005349", "description": null, "consider": null}, "id": "206ef8d1-9f5b-4970-84a4-9b0c50c698ba", "type": null, "evidence_graph": {"nodes": [{"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": "Hypoplasia of the epiglottis", "id": "HP:0005349"}, {"lbl": "NM_001199397.1(NEK1):c.869-2A>G", "id": "ClinVarVariant:30429"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"lbl": null, "id": "MONARCH:2c62a871bf4e88f646330911762dba2693181eb7"}, {"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": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b"}], "edges": [{"sub": "ClinVarVariant:40072", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "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": "ClinVarVariant:30429", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "RO:0002558", "obj": "ECO:0000220"}, {"sub": "MONARCH:2c62a871bf4e88f646330911762dba2693181eb7", "pred": "OBAN:association_has_object", "obj": "HP:0005349"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "OMIM:263520", "pred": "RO:0002200", "obj": "HP:0005349"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_object", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "RO:0002200", "obj": "OMIM:263520"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_subject", "obj": ":.well-known/genid/OMIM604588-263520VL"}, {"sub": "MONARCH:2c62a871bf4e88f646330911762dba2693181eb7", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "MONARCH:2c62a871bf4e88f646330911762dba2693181eb7", "pred": "OBAN:association_has_subject", "obj": "OMIM:263520"}, {"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.monarchinitiative.org/ttl/omim.ttl", "http://data.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Micromelia", "deprecated": null, "id": "HP:0002983", "description": null, "consider": null}, "id": "95976aae-5299-45c1-bed7-a19ff6cb9ac1", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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"}, {"lbl": "Micromelia", "id": "HP:0002983"}, {"lbl": null, "id": "MONARCH:bd692f01f7851759cfba514c808d86c3bd4e5ca6"}], "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": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0002983"}, {"sub": "MONARCH:bd692f01f7851759cfba514c808d86c3bd4e5ca6", "pred": "OBAN:association_has_object", "obj": "HP:0002983"}, {"sub": "MONARCH:bd692f01f7851759cfba514c808d86c3bd4e5ca6", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:bd692f01f7851759cfba514c808d86c3bd4e5ca6", "pred": "OBAN:association_has_subject", "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Acetabular spurs", "deprecated": null, "id": "HP:0010454", "description": null, "consider": null}, "id": "07fd98a3-26ee-4ab4-a768-19116085e5ce", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": null, "id": "MONARCH:fa0f35d612d34c900a13c635818e65f53719231b"}, {"lbl": "NEK1", "id": "NCBIGene:4750"}, {"lbl": "NM_001199397.1(NEK1):c.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"lbl": "Acetabular spurs", "id": "HP:0010454"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:fa0f35d612d34c900a13c635818e65f53719231b", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:fa0f35d612d34c900a13c635818e65f53719231b", "pred": "OBAN:association_has_object", "obj": "HP:0010454"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:fa0f35d612d34c900a13c635818e65f53719231b", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0010454"}]}, "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Wide nose", "deprecated": null, "id": "HP:0000445", "description": null, "consider": null}, "id": "5bd30bc5-9011-48e7-a58e-2b546d961592", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": null, "id": "MONARCH:a7bb98efd2ae0db68731f411b836f5c4280ccc78"}, {"lbl": "NEK1", "id": "NCBIGene:4750"}, {"lbl": "NM_001199397.1(NEK1):c.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"lbl": "Wide nose", "id": "HP:0000445"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:a7bb98efd2ae0db68731f411b836f5c4280ccc78", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0000445"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:a7bb98efd2ae0db68731f411b836f5c4280ccc78", "pred": "OBAN:association_has_object", "obj": "HP:0000445"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:a7bb98efd2ae0db68731f411b836f5c4280ccc78", "pred": "RO:0002558", "obj": "ECO:0000304"}]}, "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Metaphyseal spurs", "deprecated": null, "id": "HP:0005054", "description": null, "consider": null}, "id": "c2694d8a-6248-44ff-b3e4-3f6de95aef58", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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"}, {"lbl": "Metaphyseal spurs", "id": "HP:0005054"}, {"lbl": null, "id": "MONARCH:722fc88ccce387f7da464b528aa17b7e55f7bd13"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:722fc88ccce387f7da464b528aa17b7e55f7bd13", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:722fc88ccce387f7da464b528aa17b7e55f7bd13", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0005054"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:722fc88ccce387f7da464b528aa17b7e55f7bd13", "pred": "OBAN:association_has_object", "obj": "HP:0005054"}]}, "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Postaxial polydactyly", "deprecated": null, "id": "HP:0100259", "description": null, "consider": null}, "id": "0b372140-4743-4bc3-937d-766dcea353ed", "type": null, "evidence_graph": {"nodes": [{"lbl": null, "id": "MONARCH:38fe1309756ff2bd00dce15281226ac8acef5406"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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"}, {"lbl": "Postaxial polydactyly", "id": "HP:0100259"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0100259"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:38fe1309756ff2bd00dce15281226ac8acef5406", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "MONARCH:38fe1309756ff2bd00dce15281226ac8acef5406", "pred": "OBAN:association_has_object", "obj": "HP:0100259"}, {"sub": "MONARCH:38fe1309756ff2bd00dce15281226ac8acef5406", "pred": "OBAN:association_has_subject", "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Dandy-Walker malformation", "deprecated": null, "id": "HP:0001305", "description": null, "consider": null}, "id": "32730966-8c6b-433d-a0b0-625d26342d27", "type": null, "evidence_graph": {"nodes": [{"lbl": "Dandy-Walker malformation", "id": "HP:0001305"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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"}, {"lbl": null, "id": "MONARCH:7828ef545dce4b21f86d3b96866acf8a633b9546"}], "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": "MONARCH:7828ef545dce4b21f86d3b96866acf8a633b9546", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "MONARCH:7828ef545dce4b21f86d3b96866acf8a633b9546", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:7828ef545dce4b21f86d3b96866acf8a633b9546", "pred": "OBAN:association_has_object", "obj": "HP:0001305"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0001305"}]}, "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Urethrovaginal fistula", "deprecated": null, "id": "HP:0008716", "description": null, "consider": null}, "id": "10391e27-d44f-44d4-88b9-f747a2ff454a", "type": null, "evidence_graph": {"nodes": [{"lbl": null, "id": "MONARCH:fa8c579706f269320c7c12fe60444a2b73ee97a2"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "Urethrovaginal fistula", "id": "HP:0008716"}, {"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": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0008716"}, {"sub": "MONARCH:fa8c579706f269320c7c12fe60444a2b73ee97a2", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:fa8c579706f269320c7c12fe60444a2b73ee97a2", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "MONARCH:fa8c579706f269320c7c12fe60444a2b73ee97a2", "pred": "OBAN:association_has_object", "obj": "HP:0008716"}]}, "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Long philtrum", "deprecated": null, "id": "HP:0000343", "description": null, "consider": null}, "id": "fdace0e6-bc59-4d98-a1b5-9cd359e27076", "type": null, "evidence_graph": {"nodes": [{"lbl": null, "id": "MONARCH:a613df8195c4c78dbb0468e452c66c9c907db44c"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "Long philtrum", "id": "HP:0000343"}, {"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": "MONARCH:a613df8195c4c78dbb0468e452c66c9c907db44c", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0000343"}, {"sub": "MONARCH:a613df8195c4c78dbb0468e452c66c9c907db44c", "pred": "OBAN:association_has_object", "obj": "HP:0000343"}, {"sub": "MONARCH:a613df8195c4c78dbb0468e452c66c9c907db44c", "pred": "OBAN:association_has_subject", "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Uterus didelphys", "deprecated": null, "id": "HP:0003762", "description": null, "consider": null}, "id": "44dd2989-b36b-4a8a-b655-76f2931b1fbd", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": null, "id": "MONARCH:e401541c022c053364c85a6eda594a03f7e69d07"}, {"lbl": "NEK1", "id": "NCBIGene:4750"}, {"lbl": "NM_001199397.1(NEK1):c.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"lbl": "Uterus didelphys", "id": "HP:0003762"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0003762"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:e401541c022c053364c85a6eda594a03f7e69d07", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "MONARCH:e401541c022c053364c85a6eda594a03f7e69d07", "pred": "OBAN:association_has_object", "obj": "HP:0003762"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:e401541c022c053364c85a6eda594a03f7e69d07", "pred": "OBAN:association_has_subject", "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Abdominal distention", "deprecated": null, "id": "HP:0003270", "description": null, "consider": null}, "id": "c98716b5-a2b3-41ce-b5f4-555a2939aaee", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": null, "id": "MONARCH:5d40165fedba5b1cb8a927b5372f3a34bec468ce"}, {"lbl": "NEK1", "id": "NCBIGene:4750"}, {"lbl": "NM_001199397.1(NEK1):c.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"lbl": "Abdominal distention", "id": "HP:0003270"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:5d40165fedba5b1cb8a927b5372f3a34bec468ce", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0003270"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:5d40165fedba5b1cb8a927b5372f3a34bec468ce", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "MONARCH:5d40165fedba5b1cb8a927b5372f3a34bec468ce", "pred": "OBAN:association_has_object", "obj": "HP:0003270"}]}, "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Omphalocele", "deprecated": null, "id": "HP:0001539", "description": null, "consider": null}, "id": "d4206bac-da81-42c1-bd0f-9753743d91b2", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": null, "id": "MONARCH:35f01f40554fdce2fa9070796bab6ced6f4cb531"}, {"lbl": "NEK1", "id": "NCBIGene:4750"}, {"lbl": "NM_001199397.1(NEK1):c.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"lbl": "Omphalocele", "id": "HP:0001539"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:35f01f40554fdce2fa9070796bab6ced6f4cb531", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0001539"}, {"sub": "MONARCH:35f01f40554fdce2fa9070796bab6ced6f4cb531", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:35f01f40554fdce2fa9070796bab6ced6f4cb531", "pred": "OBAN:association_has_object", "obj": "HP:0001539"}]}, "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Lateral clavicle hook", "deprecated": null, "id": "HP:0000895", "description": null, "consider": null}, "id": "cc079007-e025-432b-a96c-2774bb90a04c", "type": null, "evidence_graph": {"nodes": [{"lbl": null, "id": "MONARCH:5f0e5ad3430ad467f1e1d057d03111fcd3d2602a"}, {"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.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"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": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"lbl": "Short-rib thoracic dysplasia 3 with or without polydactyly", "id": "OMIM:613091"}, {"lbl": "Lateral clavicle hook", "id": "HP:0000895"}, {"lbl": "NM_001199397.1(NEK1):c.1690_1691delAT (p.Met564Valfs)", "id": "ClinVarVariant:191325"}, {"lbl": null, "id": "MONARCH:6f4290d36560105765b16f5e661bb2b9bea02224"}, {"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": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b"}], "edges": [{"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": "MONARCH:5f0e5ad3430ad467f1e1d057d03111fcd3d2602a", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "RO:0002558", "obj": "ECO:0000220"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:6f4290d36560105765b16f5e661bb2b9bea02224", "pred": "OBAN:association_has_object", "obj": "HP:0000895"}, {"sub": "OMIM:263520", "pred": "RO:0002200", "obj": "HP:0000895"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "MONARCH:6f4290d36560105765b16f5e661bb2b9bea02224", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "MONARCH:5f0e5ad3430ad467f1e1d057d03111fcd3d2602a", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:6f4290d36560105765b16f5e661bb2b9bea02224", "pred": "OBAN:association_has_subject", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_object", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "RO:0002200", "obj": "OMIM:263520"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0000895"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_subject", "obj": ":.well-known/genid/OMIM604588-263520VL"}, {"sub": "MONARCH:5f0e5ad3430ad467f1e1d057d03111fcd3d2602a", "pred": "OBAN:association_has_object", "obj": "HP:0000895"}, {"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.monarchinitiative.org/ttl/omim.ttl", "http://data.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Cleft palate", "deprecated": null, "id": "HP:0000175", "description": null, "consider": null}, "id": "78ec3b82-61b0-4f9a-ad1c-be12b3806729", "type": null, "evidence_graph": {"nodes": [{"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.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}, {"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": "Cleft palate", "id": "HP:0000175"}, {"lbl": "NM_001199397.1(NEK1):c.869-2A>G", "id": "ClinVarVariant:30429"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "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": null, "id": "MONARCH:9884332e30069c4998d2ddcde3e4f9b3ee99f6ce"}, {"lbl": "NM_001199397.1(NEK1):c.379C>T (p.Arg127Ter)", "id": "ClinVarVariant:30428"}, {"lbl": null, "id": "MONARCH:d9fb9a59dad936f6ca1cf2f71bfb76998535aa55"}, {"lbl": "short-rib thoracic dysplasia 6 with or without polydactyly", "id": "OMIM:263520"}, {"lbl": null, "id": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b"}], "edges": [{"sub": "MONARCH:d9fb9a59dad936f6ca1cf2f71bfb76998535aa55", "pred": "OBAN:association_has_subject", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "MONARCH:9884332e30069c4998d2ddcde3e4f9b3ee99f6ce", "pred": "OBAN:association_has_object", "obj": "HP:0000175"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:9884332e30069c4998d2ddcde3e4f9b3ee99f6ce", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "RO:0002558", "obj": "ECO:0000220"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:d9fb9a59dad936f6ca1cf2f71bfb76998535aa55", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "MONARCH:d9fb9a59dad936f6ca1cf2f71bfb76998535aa55", "pred": "OBAN:association_has_object", "obj": "HP:0000175"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "OMIM:263520", "pred": "RO:0002200", "obj": "HP:0000175"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_object", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "RO:0002200", "obj": "OMIM:263520"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_subject", "obj": ":.well-known/genid/OMIM604588-263520VL"}, {"sub": "MONARCH:9884332e30069c4998d2ddcde3e4f9b3ee99f6ce", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0000175"}, {"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.monarchinitiative.org/ttl/omim.ttl", "http://data.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Postaxial polysyndactyly of foot", "deprecated": null, "id": "HP:0005817", "description": null, "consider": null}, "id": "3d17490b-5d1b-4894-b683-3aefc2a7ef60", "type": null, "evidence_graph": {"nodes": [{"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": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"lbl": "Postaxial polysyndactyly of foot", "id": "HP:0005817"}, {"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": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b"}, {"lbl": null, "id": "MONARCH:411bb7b5aa1caf5cd93c0b6f2f441c7dbfbd4be3"}], "edges": [{"sub": "ClinVarVariant:40072", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "MONARCH:411bb7b5aa1caf5cd93c0b6f2f441c7dbfbd4be3", "pred": "OBAN:association_has_object", "obj": "HP:0005817"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "MONARCH:411bb7b5aa1caf5cd93c0b6f2f441c7dbfbd4be3", "pred": "OBAN:association_has_subject", "obj": "OMIM:263520"}, {"sub": "OMIM:263520", "pred": "RO:0002200", "obj": "HP:0005817"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:411bb7b5aa1caf5cd93c0b6f2f441c7dbfbd4be3", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "ClinVarVariant:30429", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:195286", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:193892", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "RO:0002558", "obj": "ECO:0000220"}, {"sub": "ClinVarVariant:40072", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000840", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:30428", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:df9a80b8fcbf3ca1c9a733e52d6daa45beee5c1b", "pred": "OBAN:association_has_object", "obj": "OMIM:263520"}, {"sub": "ClinVarVariant:208600", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": ":.well-known/genid/OMIM604588-263520VL", "pred": "RO:0002200", "obj": "OMIM:263520"}, {"sub": "MONARCH: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.monarchinitiative.org/ttl/omim.ttl", "http://data.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Brachydactyly syndrome", "deprecated": null, "id": "HP:0001156", "description": null, "consider": null}, "id": "da058b11-df2c-4be4-8122-cbe032121c12", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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"}, {"lbl": "Brachydactyly syndrome", "id": "HP:0001156"}, {"lbl": null, "id": "MONARCH:8afd7599ceb061c0aec42b041a40253a115d9e3f"}], "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": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0001156"}, {"sub": "MONARCH:8afd7599ceb061c0aec42b041a40253a115d9e3f", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "MONARCH:8afd7599ceb061c0aec42b041a40253a115d9e3f", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "MONARCH:8afd7599ceb061c0aec42b041a40253a115d9e3f", "pred": "OBAN:association_has_object", "obj": "HP:0001156"}, {"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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Macrocephaly", "deprecated": null, "id": "HP:0000256", "description": null, "consider": null}, "id": "eeee1841-6dce-469c-93f7-79e16d855879", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": null, "id": "MONARCH:dba445c6d68987bae6838ba71c7bd590b45a97c2"}, {"lbl": "Macrocephaly", "id": "HP:0000256"}, {"lbl": "NM_001199397.1(NEK1):c.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0000256"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "MONARCH:dba445c6d68987bae6838ba71c7bd590b45a97c2", "pred": "OBAN:association_has_object", "obj": "HP:0000256"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:dba445c6d68987bae6838ba71c7bd590b45a97c2", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "MONARCH:dba445c6d68987bae6838ba71c7bd590b45a97c2", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Micrognathia", "deprecated": null, "id": "HP:0000347", "description": null, "consider": null}, "id": "c3038a93-864d-4fcc-8e21-050cd5a01d12", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"lbl": "Short-rib thoracic dysplasia 3 with or without polydactyly", "id": "OMIM:613091"}, {"lbl": "Micrognathia", "id": "HP:0000347"}, {"lbl": "NM_001199397.1(NEK1):c.1690_1691delAT (p.Met564Valfs)", "id": "ClinVarVariant:191325"}, {"lbl": "NEK1", "id": "NCBIGene:4750"}, {"lbl": null, "id": "MONARCH:714311557db4f581219268452501231323d745e1"}, {"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": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0000347"}, {"sub": "MONARCH:714311557db4f581219268452501231323d745e1", "pred": "OBAN:association_has_object", "obj": "HP:0000347"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:714311557db4f581219268452501231323d745e1", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "MONARCH:714311557db4f581219268452501231323d745e1", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Femoral bowing", "deprecated": null, "id": "HP:0002980", "description": null, "consider": null}, "id": "5683069a-d08b-4680-a61e-f7741df53d57", "type": null, "evidence_graph": {"nodes": [{"lbl": null, "id": "MONARCH:109454d33548e44cf3d28df041eceed1fd695b16"}, {"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": "Femoral bowing", "id": "HP:0002980"}, {"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": "MONARCH:109454d33548e44cf3d28df041eceed1fd695b16", "pred": "OBAN:association_has_object", "obj": "HP:0002980"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0002980"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "ClinVarVariant:191325", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:109454d33548e44cf3d28df041eceed1fd695b16", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"sub": "MONARCH:109454d33548e44cf3d28df041eceed1fd695b16", "pred": "OBAN:association_has_subject", "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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": "Ectopic anus", "deprecated": null, "id": "HP:0004397", "description": null, "consider": null}, "id": "572b97b3-e865-4816-953e-588595e546e6", "type": null, "evidence_graph": {"nodes": [{"lbl": "traceable author statement used in manual assertion", "id": "ECO:0000304"}, {"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": null, "id": "MONARCH:d77d0d91f82f23851708c7d4255c53675f43dfbc"}, {"lbl": "Ectopic anus", "id": "HP:0004397"}, {"lbl": "NM_001199397.1(NEK1):c.1640dupA (p.Asn547Lysfs)", "id": "ClinVarVariant:30430"}], "edges": [{"sub": "ClinVarVariant:191325", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "OMIM:613091", "pred": "RO:0002200", "obj": "HP:0004397"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000418", "obj": "NCBIGene:4750"}, {"sub": "ClinVarVariant:30430", "pred": "GENO:0000840", "obj": "OMIM:613091"}, {"sub": "MONARCH:d77d0d91f82f23851708c7d4255c53675f43dfbc", "pred": "OBAN:association_has_object", "obj": "HP:0004397"}, {"sub": "MONARCH:d77d0d91f82f23851708c7d4255c53675f43dfbc", "pred": "OBAN:association_has_subject", "obj": "OMIM:613091"}, {"sub": "MONARCH:d77d0d91f82f23851708c7d4255c53675f43dfbc", "pred": "RO:0002558", "obj": "ECO:0000304"}, {"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.monarchinitiative.org/ttl/clinvar.ttl", "http://data.monarchinitiative.org/ttl/hpoa.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": ["HP:0000003", "HP:0000028", "HP:0000054", "HP:0000062", "HP:0000089", "HP:0000105", "HP:0000107", "HP:0000110", "HP:0000126", "HP:0000161", "HP:0000171", "HP:0000175", "HP:0000204", "HP:0000248", "HP:0000256", "HP:0000286", "HP:0000343", "HP:0000347", "HP:0000445", "HP:0000518", "HP:0000773", "HP:0000774", "HP:0000888", "HP:0000895", "HP:0000944", "HP:0001156", "HP:0001162", "HP:0001177", "HP:0001274", "HP:0001302", "HP:0001305", "HP:0001320", "HP:0001321", "HP:0001395", "HP:0001539", "HP:0001629", "HP:0001631", "HP:0001762", "HP:0001773", "HP:0001789", "HP:0002006", "HP:0002007", "HP:0002023", "HP:0002032", "HP:0002089", "HP:0002093", "HP:0002350", "HP:0002566", "HP:0002612", "HP:0002650", "HP:0002980", "HP:0002983", "HP:0003016", "HP:0003022", "HP:0003038", "HP:0003270", "HP:0003762", "HP:0004279", "HP:0004322", "HP:0004397", "HP:0004599", "HP:0005054", "HP:0005257", "HP:0005280", "HP:0005349", "HP:0005716", "HP:0005766", "HP:0005817", "HP:0005873", "HP:0006426", "HP:0006644", "HP:0006956", "HP:0008716", "HP:0008736", "HP:0008873", "HP:0009106", "HP:0010297", "HP:0010306", "HP:0010454", "HP:0010564", "HP:0010579", "HP:0011802", "HP:0030680", "HP:0100258", "HP:0100259", "HP:0100732"], "start": null, "numFound": null, "facet_pivot": null, "facet_counts": {"subject_taxon_label": {"Homo sapiens": 86}, "object_closure": {"UBERON:0002204PHENOTYPE": 41, "UBERON:0004288PHENOTYPE": 41, "BFO:0000020": 86, "owl:Thing": 86, "HP:0000118": 86, "HP:0000924": 41, "MP:0000001": 86, "HP:0000001": 86, "IAO:0000144": 86, "BFO:0000002": 86, "UBERON:0013701PHENOTYPE": 44, "UBERON:0001434PHENOTYPE": 41, "MP:0005508": 41, "BFO:0000031": 86, "SEPIO:0000013": 86, "IAO:0000300": 86, "UPHENO:0001002": 86, "BFO:0000001": 86, "HP:0011842": 41, "MP:0005390": 41, "UPHENO:0001001": 86, "UBERON:0013702PHENOTYPE": 44, "UBERON:0004120PHENOTYPE": 53, "IAO:0000030": 86, "SEPIO:0000129": 86}}}

1:66ece4fd024f

{"compact_associations": null, "objects": [], "associations": [], "facet_counts": {"isa_partof_closure": {}, "taxon_label": {}}, "start": null, "facet_pivot": null, "numFound": null}