PubMed:15099351 / 502-926
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/15099351","sourcedb":"PubMed","sourceid":"15099351","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/15099351","text":"a clinical diagnosis of familial hypercholesterolemia where mutations in the low-density lipoprotein receptor gene and mutation R3500Q in the apolipoprotein B-100 gene had been excluded. Two novel missense mutations were detected in the catalytic subdomain of the PCSK9 gene. Two patients were heterozygotes for D374Y, and one patient was a double heterozygote for D374Y and N157K. D374Y segregated with hypercholesterolemia","tracks":[{"project":"PubTator4TogoVar","denotations":[{"id":"15099351_0","span":{"begin":312,"end":317},"obj":"ProteinMutation"},{"id":"15099351_1","span":{"begin":365,"end":370},"obj":"ProteinMutation"},{"id":"15099351_2","span":{"begin":375,"end":380},"obj":"ProteinMutation"},{"id":"15099351_3","span":{"begin":382,"end":387},"obj":"ProteinMutation"}],"attributes":[{"id":"15099351_0_ProteinMutation","pred":"proteinmutation","subj":"15099351_0","obj":"rs137852912"},{"id":"15099351_1_ProteinMutation","pred":"proteinmutation","subj":"15099351_1","obj":"rs137852912"},{"id":"15099351_2_ProteinMutation","pred":"proteinmutation","subj":"15099351_2","obj":"rs143117125"},{"id":"15099351_3_ProteinMutation","pred":"proteinmutation","subj":"15099351_3","obj":"rs137852912"},{"subj":"15099351_0","pred":"source","obj":"PubTator4TogoVar"},{"subj":"15099351_1","pred":"source","obj":"PubTator4TogoVar"},{"subj":"15099351_2","pred":"source","obj":"PubTator4TogoVar"},{"subj":"15099351_3","pred":"source","obj":"PubTator4TogoVar"}]},{"project":"TEST-DiseaseOrPhenotypicFeature","denotations":[{"id":"T4","span":{"begin":24,"end":53},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":404,"end":424},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A4","pred":"#label","subj":"T4","obj":"D006938"},{"id":"A5","pred":"#label","subj":"T5","obj":"D006937"},{"subj":"T4","pred":"source","obj":"TEST-DiseaseOrPhenotypicFeature"},{"subj":"T5","pred":"source","obj":"TEST-DiseaseOrPhenotypicFeature"}]},{"project":"TEST-ChemicalEntity","denotations":[{"id":"T4","span":{"begin":77,"end":100},"obj":"ChemicalEntity"},{"id":"T5","span":{"begin":142,"end":156},"obj":"ChemicalEntity"}],"attributes":[{"id":"A4","pred":"ID:","subj":"T4","obj":"http://purl.obolibrary.org/obo/CHEBI_39026"},{"id":"A5","pred":"ID:","subj":"T5","obj":"http://purl.obolibrary.org/obo/CHEBI_39015"},{"subj":"T4","pred":"source","obj":"TEST-ChemicalEntity"},{"subj":"T5","pred":"source","obj":"TEST-ChemicalEntity"}]},{"project":"TEST-OrganismTaxon","denotations":[{"id":"T1","span":{"begin":280,"end":288},"obj":"OrganismTaxon"},{"id":"T2","span":{"begin":327,"end":334},"obj":"OrganismTaxon"}],"attributes":[{"subj":"T1","pred":"source","obj":"TEST-OrganismTaxon"},{"subj":"T2","pred":"source","obj":"TEST-OrganismTaxon"}]},{"project":"Test-SequenceVariant","denotations":[{"id":"T1","span":{"begin":128,"end":134},"obj":"SequenceVariant"},{"id":"T2","span":{"begin":312,"end":317},"obj":"SequenceVariant"},{"id":"T3","span":{"begin":365,"end":370},"obj":"SequenceVariant"},{"id":"T4","span":{"begin":375,"end":380},"obj":"SequenceVariant"},{"id":"T5","span":{"begin":382,"end":387},"obj":"SequenceVariant"}],"attributes":[{"subj":"T1","pred":"source","obj":"Test-SequenceVariant"},{"subj":"T2","pred":"source","obj":"Test-SequenceVariant"},{"subj":"T3","pred":"source","obj":"Test-SequenceVariant"},{"subj":"T4","pred":"source","obj":"Test-SequenceVariant"},{"subj":"T5","pred":"source","obj":"Test-SequenceVariant"}]},{"project":"Test-GeneOrGeneProduct","denotations":[{"id":"T9","span":{"begin":33,"end":53},"obj":"GeneOrGeneProduct"},{"id":"T10","span":{"begin":77,"end":109},"obj":"GeneOrGeneProduct"},{"id":"T11","span":{"begin":142,"end":162},"obj":"GeneOrGeneProduct"},{"id":"T12","span":{"begin":264,"end":269},"obj":"GeneOrGeneProduct"},{"id":"T13","span":{"begin":404,"end":424},"obj":"GeneOrGeneProduct"}],"attributes":[{"subj":"T9","pred":"source","obj":"Test-GeneOrGeneProduct"},{"subj":"T10","pred":"source","obj":"Test-GeneOrGeneProduct"},{"subj":"T11","pred":"source","obj":"Test-GeneOrGeneProduct"},{"subj":"T12","pred":"source","obj":"Test-GeneOrGeneProduct"},{"subj":"T13","pred":"source","obj":"Test-GeneOrGeneProduct"}]},{"project":"Test-merged-2","denotations":[{"id":"T35421","span":{"begin":128,"end":134},"obj":"SequenceVariant"},{"id":"T30216","span":{"begin":312,"end":317},"obj":"SequenceVariant"},{"id":"T9278","span":{"begin":365,"end":370},"obj":"SequenceVariant"},{"id":"T99890","span":{"begin":375,"end":380},"obj":"SequenceVariant"},{"id":"T66898","span":{"begin":382,"end":387},"obj":"SequenceVariant"},{"id":"T89948","span":{"begin":77,"end":100},"obj":"ChemicalEntity"},{"id":"T84945","span":{"begin":142,"end":156},"obj":"ChemicalEntity"},{"id":"T9","span":{"begin":33,"end":53},"obj":"GeneOrGeneProduct"},{"id":"T10","span":{"begin":77,"end":109},"obj":"GeneOrGeneProduct"},{"id":"T11","span":{"begin":142,"end":162},"obj":"GeneOrGeneProduct"},{"id":"T12","span":{"begin":264,"end":269},"obj":"GeneOrGeneProduct"},{"id":"T13","span":{"begin":404,"end":424},"obj":"GeneOrGeneProduct"},{"id":"T59437","span":{"begin":280,"end":288},"obj":"OrganismTaxon"},{"id":"T77087","span":{"begin":327,"end":334},"obj":"OrganismTaxon"},{"id":"T4","span":{"begin":24,"end":53},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":404,"end":424},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A5","pred":"#label","subj":"T5","obj":"D006937"},{"id":"A90270","pred":"ID:","subj":"T89948","obj":"http://purl.obolibrary.org/obo/CHEBI_39026"},{"id":"A4","pred":"#label","subj":"T4","obj":"D006938"},{"id":"A3753","pred":"ID:","subj":"T84945","obj":"http://purl.obolibrary.org/obo/CHEBI_39015"},{"subj":"T35421","pred":"source","obj":"Test-merged-2"},{"subj":"T30216","pred":"source","obj":"Test-merged-2"},{"subj":"T9278","pred":"source","obj":"Test-merged-2"},{"subj":"T99890","pred":"source","obj":"Test-merged-2"},{"subj":"T66898","pred":"source","obj":"Test-merged-2"},{"subj":"T89948","pred":"source","obj":"Test-merged-2"},{"subj":"T84945","pred":"source","obj":"Test-merged-2"},{"subj":"T9","pred":"source","obj":"Test-merged-2"},{"subj":"T10","pred":"source","obj":"Test-merged-2"},{"subj":"T11","pred":"source","obj":"Test-merged-2"},{"subj":"T12","pred":"source","obj":"Test-merged-2"},{"subj":"T13","pred":"source","obj":"Test-merged-2"},{"subj":"T59437","pred":"source","obj":"Test-merged-2"},{"subj":"T77087","pred":"source","obj":"Test-merged-2"},{"subj":"T4","pred":"source","obj":"Test-merged-2"},{"subj":"T5","pred":"source","obj":"Test-merged-2"}]},{"project":"Test-merged","denotations":[{"id":"T5","span":{"begin":404,"end":424},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":24,"end":53},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T77087","span":{"begin":327,"end":334},"obj":"OrganismTaxon"},{"id":"T59437","span":{"begin":280,"end":288},"obj":"OrganismTaxon"},{"id":"T12","span":{"begin":264,"end":269},"obj":"GeneOrGeneProduct"},{"id":"T11","span":{"begin":142,"end":162},"obj":"GeneOrGeneProduct"},{"id":"T10","span":{"begin":77,"end":109},"obj":"GeneOrGeneProduct"},{"id":"T66898","span":{"begin":382,"end":387},"obj":"SequenceVariant"},{"id":"T99890","span":{"begin":375,"end":380},"obj":"SequenceVariant"},{"id":"T9278","span":{"begin":365,"end":370},"obj":"SequenceVariant"},{"id":"T30216","span":{"begin":312,"end":317},"obj":"SequenceVariant"},{"id":"T35421","span":{"begin":128,"end":134},"obj":"SequenceVariant"}],"attributes":[{"id":"A4","pred":"#label","subj":"T4","obj":"D006938"},{"id":"A5","pred":"#label","subj":"T5","obj":"D006937"},{"subj":"T5","pred":"source","obj":"Test-merged"},{"subj":"T4","pred":"source","obj":"Test-merged"},{"subj":"T77087","pred":"source","obj":"Test-merged"},{"subj":"T59437","pred":"source","obj":"Test-merged"},{"subj":"T12","pred":"source","obj":"Test-merged"},{"subj":"T11","pred":"source","obj":"Test-merged"},{"subj":"T10","pred":"source","obj":"Test-merged"},{"subj":"T66898","pred":"source","obj":"Test-merged"},{"subj":"T99890","pred":"source","obj":"Test-merged"},{"subj":"T9278","pred":"source","obj":"Test-merged"},{"subj":"T30216","pred":"source","obj":"Test-merged"},{"subj":"T35421","pred":"source","obj":"Test-merged"}]},{"project":"DisGeNET5_variant_disease","denotations":[{"id":"15099351-6#0#5#geners764179870","span":{"begin":382,"end":387},"obj":"geners764179870"},{"id":"15099351-6#0#5#geners137852912","span":{"begin":382,"end":387},"obj":"geners137852912"},{"id":"15099351-6#22#42#diseaseC0020443","span":{"begin":404,"end":424},"obj":"diseaseC0020443"}],"relations":[{"id":"0#5#geners76417987022#42#diseaseC0020443","pred":"associated_with","subj":"15099351-6#0#5#geners764179870","obj":"15099351-6#22#42#diseaseC0020443"},{"id":"0#5#geners13785291222#42#diseaseC0020443","pred":"associated_with","subj":"15099351-6#0#5#geners137852912","obj":"15099351-6#22#42#diseaseC0020443"}],"attributes":[{"subj":"15099351-6#0#5#geners764179870","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"15099351-6#0#5#geners137852912","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"15099351-6#22#42#diseaseC0020443","pred":"source","obj":"DisGeNET5_variant_disease"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"15099351-0#55#94#diseaseC0745103","span":{"begin":0,"end":424},"obj":"diseaseC0745103"},{"id":"15099351-3#190#222#gene3949","span":{"begin":77,"end":109},"obj":"gene3949"},{"id":"15099351-3#255#275#gene338","span":{"begin":142,"end":162},"obj":"gene338"},{"id":"15099351-3#137#166#diseaseC0020445","span":{"begin":24,"end":53},"obj":"diseaseC0020445"},{"id":"15099351-3#137#166#diseaseC0745103","span":{"begin":24,"end":53},"obj":"diseaseC0745103"},{"id":"15099351-3#137#166#diseaseC0020445","span":{"begin":24,"end":53},"obj":"diseaseC0020445"},{"id":"15099351-3#137#166#diseaseC0745103","span":{"begin":24,"end":53},"obj":"diseaseC0745103"}],"relations":[{"id":"190#222#gene3949137#166#diseaseC0020445","pred":"associated_with","subj":"15099351-3#190#222#gene3949","obj":"15099351-3#137#166#diseaseC0020445"},{"id":"190#222#gene3949137#166#diseaseC0745103","pred":"associated_with","subj":"15099351-3#190#222#gene3949","obj":"15099351-3#137#166#diseaseC0745103"},{"id":"190#222#gene3949137#166#diseaseC0020445","pred":"associated_with","subj":"15099351-3#190#222#gene3949","obj":"15099351-3#137#166#diseaseC0020445"},{"id":"190#222#gene3949137#166#diseaseC0745103","pred":"associated_with","subj":"15099351-3#190#222#gene3949","obj":"15099351-3#137#166#diseaseC0745103"},{"id":"255#275#gene338137#166#diseaseC0020445","pred":"associated_with","subj":"15099351-3#255#275#gene338","obj":"15099351-3#137#166#diseaseC0020445"},{"id":"255#275#gene338137#166#diseaseC0745103","pred":"associated_with","subj":"15099351-3#255#275#gene338","obj":"15099351-3#137#166#diseaseC0745103"},{"id":"255#275#gene338137#166#diseaseC0020445","pred":"associated_with","subj":"15099351-3#255#275#gene338","obj":"15099351-3#137#166#diseaseC0020445"},{"id":"255#275#gene338137#166#diseaseC0745103","pred":"associated_with","subj":"15099351-3#255#275#gene338","obj":"15099351-3#137#166#diseaseC0745103"}],"attributes":[{"subj":"15099351-0#55#94#diseaseC0745103","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"15099351-3#190#222#gene3949","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"15099351-3#255#275#gene338","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"15099351-3#137#166#diseaseC0020445","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"15099351-3#137#166#diseaseC0745103","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"15099351-3#137#166#diseaseC0020445","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"15099351-3#137#166#diseaseC0745103","pred":"source","obj":"DisGeNET5_gene_disease"}]},{"project":"DisGeNET","denotations":[{"id":"T8","span":{"begin":142,"end":162},"obj":"gene:338"},{"id":"T9","span":{"begin":24,"end":53},"obj":"disease:C0020445"},{"id":"T10","span":{"begin":77,"end":109},"obj":"gene:3949"},{"id":"T11","span":{"begin":24,"end":53},"obj":"disease:C0020445"},{"id":"T13","span":{"begin":24,"end":53},"obj":"disease:C0020445"}],"relations":[{"id":"R5","pred":"associated_with","subj":"T8","obj":"T9"},{"id":"R6","pred":"associated_with","subj":"T10","obj":"T11"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"attributes":[{"subj":"T8","pred":"source","obj":"DisGeNET"},{"subj":"T9","pred":"source","obj":"DisGeNET"},{"subj":"T10","pred":"source","obj":"DisGeNET"},{"subj":"T11","pred":"source","obj":"DisGeNET"},{"subj":"T13","pred":"source","obj":"DisGeNET"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"PubTator4TogoVar","color":"#93ec9e","default":true},{"id":"TEST-DiseaseOrPhenotypicFeature","color":"#ec93a1"},{"id":"TEST-ChemicalEntity","color":"#93bbec"},{"id":"TEST-OrganismTaxon","color":"#d5ec93"},{"id":"Test-SequenceVariant","color":"#e893ec"},{"id":"Test-GeneOrGeneProduct","color":"#93ecce"},{"id":"Test-merged-2","color":"#ecb493"},{"id":"Test-merged","color":"#9a93ec"},{"id":"DisGeNET5_variant_disease","color":"#a5ec93"},{"id":"DisGeNET5_gene_disease","color":"#ec93bf"},{"id":"DisGeNET","color":"#93d9ec"}]}]}}