PMC:1183529 / 868-1031 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/1183529","sourcedb":"PMC","sourceid":"1183529","source_url":"http://www.ncbi.nlm.nih.gov/pmc/1183529","text":"for mutations in FOG2. Sequence analysis revealed a de novo mutation resulting in a premature stop codon in a child who died on the first day of life secondary to ","tracks":[{"project":"craft-ca-core-dev","denotations":[{"id":"T921","span":{"begin":17,"end":21},"obj":"PR:000017653"},{"id":"T922","span":{"begin":84,"end":104},"obj":"SO:0001587"},{"id":"T923","span":{"begin":120,"end":124},"obj":"GO:0016265"},{"id":"T924","span":{"begin":145,"end":149},"obj":"UBERON:0000104"}],"attributes":[{"subj":"T921","pred":"source","obj":"craft-ca-core-dev"},{"subj":"T922","pred":"source","obj":"craft-ca-core-dev"},{"subj":"T923","pred":"source","obj":"craft-ca-core-dev"},{"subj":"T924","pred":"source","obj":"craft-ca-core-dev"}]},{"project":"Biotea","denotations":[{"id":"T657","span":{"begin":32,"end":40},"obj":"http://purl.bioontology.org/ontology/MESH/Q000032"},{"id":"T659","span":{"begin":32,"end":40},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/272389005"},{"id":"T661","span":{"begin":32,"end":40},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25391"},{"id":"T682","span":{"begin":60,"end":68},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16885"},{"id":"T686","span":{"begin":4,"end":13},"obj":"http://purl.bioontology.org/ontology/MESH/D009154"},{"id":"T687","span":{"begin":60,"end":68},"obj":"http://purl.bioontology.org/ontology/MESH/D009154"},{"id":"T691","span":{"begin":60,"end":68},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45576"},{"id":"T731","span":{"begin":17,"end":21},"obj":"http://purl.obolibrary.org/obo/PR_000017653"},{"id":"T736","span":{"begin":17,"end":21},"obj":"http://purl.obolibrary.org/obo/PR_Q8CCH7"},{"id":"T741","span":{"begin":17,"end":21},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C102765"},{"id":"T766","span":{"begin":23,"end":40},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17565"},{"id":"T824","span":{"begin":23,"end":40},"obj":"http://purl.bioontology.org/ontology/MESH/D017421"},{"id":"T825","span":{"begin":23,"end":31},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C43465"},{"id":"T826","span":{"begin":23,"end":31},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C89252"},{"id":"T827","span":{"begin":23,"end":31},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13299"},{"id":"T828","span":{"begin":23,"end":31},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25673"},{"id":"T829","span":{"begin":23,"end":31},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45374"},{"id":"T830","span":{"begin":23,"end":31},"obj":"http://purl.obolibrary.org/obo/SO_0000001"},{"id":"T831","span":{"begin":41,"end":49},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/263857004"},{"id":"T832","span":{"begin":52,"end":68},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C93106"},{"id":"T833","span":{"begin":52,"end":68},"obj":"http://purl.bioontology.org/ontology/OMIM/MTHU036578"},{"id":"T834","span":{"begin":52,"end":59},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28354"},{"id":"T835","span":{"begin":69,"end":81},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/79409006"},{"id":"T836","span":{"begin":84,"end":93},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C133441"},{"id":"T838","span":{"begin":99,"end":104},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62019"},{"id":"T839","span":{"begin":99,"end":104},"obj":"http://purl.bioontology.org/ontology/NDFRT/N0000170695"},{"id":"T840","span":{"begin":99,"end":104},"obj":"http://purl.bioontology.org/ontology/MESH/D003062"},{"id":"T841","span":{"begin":110,"end":115},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/410601007"},{"id":"T842","span":{"begin":110,"end":115},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/67822003"},{"id":"T843","span":{"begin":110,"end":115},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C150886"},{"id":"T844","span":{"begin":110,"end":115},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16423"},{"id":"T845","span":{"begin":110,"end":115},"obj":"http://purl.bioontology.org/ontology/MESH/D002648"},{"id":"T846","span":{"begin":110,"end":115},"obj":"http://purl.bioontology.org/ontology/NDFRT/N0000010205"},{"id":"T847","span":{"begin":120,"end":124},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28554"},{"id":"T848","span":{"begin":120,"end":124},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/419099009"},{"id":"T849","span":{"begin":138,"end":141},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/258703001"},{"id":"T850","span":{"begin":138,"end":141},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25301"},{"id":"T851","span":{"begin":145,"end":149},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142142"},{"id":"T852","span":{"begin":145,"end":149},"obj":"http://purl.bioontology.org/ontology/MESH/D019369"},{"id":"T853","span":{"begin":145,"end":149},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20203"},{"id":"T854","span":{"begin":150,"end":162},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/2603003"},{"id":"T855","span":{"begin":150,"end":159},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/2603003"},{"id":"T856","span":{"begin":150,"end":159},"obj":"http://purl.bioontology.org/ontology/MESH/Q000556"},{"id":"T857","span":{"begin":150,"end":159},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25667"},{"id":"T858","span":{"begin":150,"end":159},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25666"},{"id":"T837","span":{"begin":94,"end":104},"obj":"http://purl.bioontology.org/ontology/NDFRT/N0000170697"}],"namespaces":[{"prefix":"omim","uri":"http://purl.bioontology.org/ontology/OMIM/"},{"prefix":"pr","uri":"http://purl.obolibrary.org/obo/PR_"}],"attributes":[{"subj":"T657","pred":"source","obj":"Biotea"},{"subj":"T659","pred":"source","obj":"Biotea"},{"subj":"T661","pred":"source","obj":"Biotea"},{"subj":"T682","pred":"source","obj":"Biotea"},{"subj":"T686","pred":"source","obj":"Biotea"},{"subj":"T687","pred":"source","obj":"Biotea"},{"subj":"T691","pred":"source","obj":"Biotea"},{"subj":"T731","pred":"source","obj":"Biotea"},{"subj":"T736","pred":"source","obj":"Biotea"},{"subj":"T741","pred":"source","obj":"Biotea"},{"subj":"T766","pred":"source","obj":"Biotea"},{"subj":"T824","pred":"source","obj":"Biotea"},{"subj":"T825","pred":"source","obj":"Biotea"},{"subj":"T826","pred":"source","obj":"Biotea"},{"subj":"T827","pred":"source","obj":"Biotea"},{"subj":"T828","pred":"source","obj":"Biotea"},{"subj":"T829","pred":"source","obj":"Biotea"},{"subj":"T830","pred":"source","obj":"Biotea"},{"subj":"T831","pred":"source","obj":"Biotea"},{"subj":"T832","pred":"source","obj":"Biotea"},{"subj":"T833","pred":"source","obj":"Biotea"},{"subj":"T834","pred":"source","obj":"Biotea"},{"subj":"T835","pred":"source","obj":"Biotea"},{"subj":"T836","pred":"source","obj":"Biotea"},{"subj":"T838","pred":"source","obj":"Biotea"},{"subj":"T839","pred":"source","obj":"Biotea"},{"subj":"T840","pred":"source","obj":"Biotea"},{"subj":"T841","pred":"source","obj":"Biotea"},{"subj":"T842","pred":"source","obj":"Biotea"},{"subj":"T843","pred":"source","obj":"Biotea"},{"subj":"T844","pred":"source","obj":"Biotea"},{"subj":"T845","pred":"source","obj":"Biotea"},{"subj":"T846","pred":"source","obj":"Biotea"},{"subj":"T847","pred":"source","obj":"Biotea"},{"subj":"T848","pred":"source","obj":"Biotea"},{"subj":"T849","pred":"source","obj":"Biotea"},{"subj":"T850","pred":"source","obj":"Biotea"},{"subj":"T851","pred":"source","obj":"Biotea"},{"subj":"T852","pred":"source","obj":"Biotea"},{"subj":"T853","pred":"source","obj":"Biotea"},{"subj":"T854","pred":"source","obj":"Biotea"},{"subj":"T855","pred":"source","obj":"Biotea"},{"subj":"T856","pred":"source","obj":"Biotea"},{"subj":"T857","pred":"source","obj":"Biotea"},{"subj":"T858","pred":"source","obj":"Biotea"},{"subj":"T837","pred":"source","obj":"Biotea"}]},{"project":"craft-ca-core-ex-dev","denotations":[{"id":"T975","span":{"begin":4,"end":13},"obj":"SO_EXT:sequence_alteration_entity_or_process"},{"id":"T976","span":{"begin":17,"end":21},"obj":"PR_EXT:000017653"},{"id":"T977","span":{"begin":23,"end":31},"obj":"SO_EXT:biological_sequence"},{"id":"T978","span":{"begin":60,"end":68},"obj":"SO_EXT:sequence_alteration_entity_or_process"},{"id":"T979","span":{"begin":84,"end":104},"obj":"SO_EXT:0001587"},{"id":"T980","span":{"begin":110,"end":115},"obj":"NCBITaxon_UBERON_EXT:child"},{"id":"T981","span":{"begin":120,"end":124},"obj":"GO:0016265"},{"id":"T982","span":{"begin":145,"end":149},"obj":"UBERON:0000104"}],"attributes":[{"subj":"T975","pred":"source","obj":"craft-ca-core-ex-dev"},{"subj":"T976","pred":"source","obj":"craft-ca-core-ex-dev"},{"subj":"T977","pred":"source","obj":"craft-ca-core-ex-dev"},{"subj":"T978","pred":"source","obj":"craft-ca-core-ex-dev"},{"subj":"T979","pred":"source","obj":"craft-ca-core-ex-dev"},{"subj":"T980","pred":"source","obj":"craft-ca-core-ex-dev"},{"subj":"T981","pred":"source","obj":"craft-ca-core-ex-dev"},{"subj":"T982","pred":"source","obj":"craft-ca-core-ex-dev"}]},{"project":"craft-sa-dev","denotations":[{"id":"T1136","span":{"begin":0,"end":3},"obj":"IN"},{"id":"T1137","span":{"begin":4,"end":13},"obj":"NNS"},{"id":"T1138","span":{"begin":14,"end":16},"obj":"IN"},{"id":"T1139","span":{"begin":17,"end":21},"obj":"NN"},{"id":"T1140","span":{"begin":21,"end":22},"obj":"."},{"id":"T1142","span":{"begin":23,"end":31},"obj":"NN"},{"id":"T1143","span":{"begin":32,"end":40},"obj":"NN"},{"id":"T1144","span":{"begin":41,"end":49},"obj":"VBD"},{"id":"T1145","span":{"begin":50,"end":51},"obj":"DT"},{"id":"T1146","span":{"begin":60,"end":68},"obj":"NN"},{"id":"T1147","span":{"begin":52,"end":54},"obj":"FW"},{"id":"T1148","span":{"begin":55,"end":59},"obj":"FW"},{"id":"T1149","span":{"begin":69,"end":78},"obj":"VBG"},{"id":"T1150","span":{"begin":79,"end":81},"obj":"IN"},{"id":"T1151","span":{"begin":82,"end":83},"obj":"DT"},{"id":"T1152","span":{"begin":99,"end":104},"obj":"NN"},{"id":"T1153","span":{"begin":84,"end":93},"obj":"JJ"},{"id":"T1154","span":{"begin":94,"end":98},"obj":"NN"},{"id":"T1155","span":{"begin":105,"end":107},"obj":"IN"},{"id":"T1156","span":{"begin":108,"end":109},"obj":"DT"},{"id":"T1157","span":{"begin":110,"end":115},"obj":"NN"},{"id":"T1158","span":{"begin":116,"end":119},"obj":"WP"},{"id":"T1159","span":{"begin":120,"end":124},"obj":"VBD"},{"id":"T1160","span":{"begin":125,"end":127},"obj":"IN"},{"id":"T1161","span":{"begin":128,"end":131},"obj":"DT"},{"id":"T1162","span":{"begin":138,"end":141},"obj":"NN"},{"id":"T1163","span":{"begin":132,"end":137},"obj":"JJ"},{"id":"T1164","span":{"begin":142,"end":144},"obj":"IN"},{"id":"T1165","span":{"begin":145,"end":149},"obj":"NN"},{"id":"T1166","span":{"begin":150,"end":159},"obj":"JJ"},{"id":"T1167","span":{"begin":160,"end":162},"obj":"IN"}],"relations":[{"id":"R135","pred":"dobj","subj":"T1146","obj":"T1144"},{"id":"R136","pred":"advmod","subj":"T1147","obj":"T1148"},{"id":"R137","pred":"amod","subj":"T1148","obj":"T1146"},{"id":"R141","pred":"pobj","subj":"T1152","obj":"T1150"},{"id":"R142","pred":"amod","subj":"T1153","obj":"T1152"},{"id":"R143","pred":"compound","subj":"T1154","obj":"T1152"},{"id":"R151","pred":"pobj","subj":"T1162","obj":"T1160"},{"id":"R152","pred":"amod","subj":"T1163","obj":"T1162"},{"id":"R128","pred":"pobj","subj":"T1137","obj":"T1136"},{"id":"R129","pred":"prep","subj":"T1138","obj":"T1137"},{"id":"R130","pred":"pobj","subj":"T1139","obj":"T1138"},{"id":"R132","pred":"compound","subj":"T1142","obj":"T1143"},{"id":"R133","pred":"nsubj","subj":"T1143","obj":"T1144"},{"id":"R134","pred":"det","subj":"T1145","obj":"T1146"},{"id":"R138","pred":"acl","subj":"T1149","obj":"T1146"},{"id":"R139","pred":"prep","subj":"T1150","obj":"T1149"},{"id":"R140","pred":"det","subj":"T1151","obj":"T1152"},{"id":"R144","pred":"prep","subj":"T1155","obj":"T1152"},{"id":"R145","pred":"det","subj":"T1156","obj":"T1157"},{"id":"R146","pred":"pobj","subj":"T1157","obj":"T1155"},{"id":"R147","pred":"dep","subj":"T1158","obj":"T1159"},{"id":"R148","pred":"relcl","subj":"T1159","obj":"T1157"},{"id":"R149","pred":"prep","subj":"T1160","obj":"T1159"},{"id":"R150","pred":"det","subj":"T1161","obj":"T1162"},{"id":"R153","pred":"prep","subj":"T1164","obj":"T1162"},{"id":"R154","pred":"pobj","subj":"T1165","obj":"T1164"},{"id":"R155","pred":"amod","subj":"T1166","obj":"T1152"},{"id":"R156","pred":"prep","subj":"T1167","obj":"T1166"}],"attributes":[{"subj":"T1136","pred":"source","obj":"craft-sa-dev"},{"subj":"T1137","pred":"source","obj":"craft-sa-dev"},{"subj":"T1138","pred":"source","obj":"craft-sa-dev"},{"subj":"T1139","pred":"source","obj":"craft-sa-dev"},{"subj":"T1140","pred":"source","obj":"craft-sa-dev"},{"subj":"T1142","pred":"source","obj":"craft-sa-dev"},{"subj":"T1143","pred":"source","obj":"craft-sa-dev"},{"subj":"T1144","pred":"source","obj":"craft-sa-dev"},{"subj":"T1145","pred":"source","obj":"craft-sa-dev"},{"subj":"T1146","pred":"source","obj":"craft-sa-dev"},{"subj":"T1147","pred":"source","obj":"craft-sa-dev"},{"subj":"T1148","pred":"source","obj":"craft-sa-dev"},{"subj":"T1149","pred":"source","obj":"craft-sa-dev"},{"subj":"T1150","pred":"source","obj":"craft-sa-dev"},{"subj":"T1151","pred":"source","obj":"craft-sa-dev"},{"subj":"T1152","pred":"source","obj":"craft-sa-dev"},{"subj":"T1153","pred":"source","obj":"craft-sa-dev"},{"subj":"T1154","pred":"source","obj":"craft-sa-dev"},{"subj":"T1155","pred":"source","obj":"craft-sa-dev"},{"subj":"T1156","pred":"source","obj":"craft-sa-dev"},{"subj":"T1157","pred":"source","obj":"craft-sa-dev"},{"subj":"T1158","pred":"source","obj":"craft-sa-dev"},{"subj":"T1159","pred":"source","obj":"craft-sa-dev"},{"subj":"T1160","pred":"source","obj":"craft-sa-dev"},{"subj":"T1161","pred":"source","obj":"craft-sa-dev"},{"subj":"T1162","pred":"source","obj":"craft-sa-dev"},{"subj":"T1163","pred":"source","obj":"craft-sa-dev"},{"subj":"T1164","pred":"source","obj":"craft-sa-dev"},{"subj":"T1165","pred":"source","obj":"craft-sa-dev"},{"subj":"T1166","pred":"source","obj":"craft-sa-dev"},{"subj":"T1167","pred":"source","obj":"craft-sa-dev"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"craft-ca-core-dev","color":"#93ec9e","default":true},{"id":"Biotea","color":"#ec93a1"},{"id":"craft-ca-core-ex-dev","color":"#93bcec"},{"id":"craft-sa-dev","color":"#d6ec93"}]}]}}