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PubMed:15099351 JSONTXT

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PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
15099351_0 814-819 ProteinMutation denotes D374Y rs137852912
15099351_1 867-872 ProteinMutation denotes D374Y rs137852912
15099351_2 877-882 ProteinMutation denotes N157K rs143117125
15099351_3 884-889 ProteinMutation denotes D374Y rs137852912

TEST-DiseaseOrPhenotypicFeature

Id Subject Object Predicate Lexical cue #label
T1 55-94 DiseaseOrPhenotypicFeature denotes autosomal dominant hypercholesterolemia D006938
T2 168-207 DiseaseOrPhenotypicFeature denotes autosomal dominant hypercholesterolemia D006938
T3 367-387 DiseaseOrPhenotypicFeature denotes hypercholesterolemia D006937
T4 526-555 DiseaseOrPhenotypicFeature denotes familial hypercholesterolemia D006938
T5 906-926 DiseaseOrPhenotypicFeature denotes hypercholesterolemia D006937
T6 1072-1111 DiseaseOrPhenotypicFeature denotes autosomal dominant hypercholesterolemia D006938

TEST-ChemicalEntity

Id Subject Object Predicate Lexical cue ID:
T1 96-141 ChemicalEntity denotes Proprotein convertase subtilisin/kexin type 9 D000071449
T2 269-280 ChemicalEntity denotes cholesterol D002784|http://purl.obolibrary.org/obo/CHEBI_16113
T4 579-602 ChemicalEntity denotes low-density lipoprotein http://purl.obolibrary.org/obo/CHEBI_39026
T5 644-658 ChemicalEntity denotes apolipoprotein http://purl.obolibrary.org/obo/CHEBI_39015

TEST-OrganismTaxon

Id Subject Object Predicate Lexical cue
T1 782-790 OrganismTaxon denotes patients
T2 829-836 OrganismTaxon denotes patient

Test-SequenceVariant

Id Subject Object Predicate Lexical cue
T1 630-636 SequenceVariant denotes R3500Q
T2 814-819 SequenceVariant denotes D374Y
T3 867-872 SequenceVariant denotes D374Y
T4 877-882 SequenceVariant denotes N157K
T5 884-889 SequenceVariant denotes D374Y

Test-GeneOrGeneProduct

Id Subject Object Predicate Lexical cue
T1 17-22 GeneOrGeneProduct denotes PCSK9
T2 74-94 GeneOrGeneProduct denotes hypercholesterolemia
T3 96-139 GeneOrGeneProduct denotes Proprotein convertase subtilisin/kexin type
T4 143-148 GeneOrGeneProduct denotes PCSK9
T5 187-207 GeneOrGeneProduct denotes hypercholesterolemia
T6 243-248 GeneOrGeneProduct denotes PCSK9
T7 367-387 GeneOrGeneProduct denotes hypercholesterolemia
T8 442-447 GeneOrGeneProduct denotes PCSK9
T9 535-555 GeneOrGeneProduct denotes hypercholesterolemia
T10 579-611 GeneOrGeneProduct denotes low-density lipoprotein receptor
T11 644-664 GeneOrGeneProduct denotes apolipoprotein B-100
T12 766-771 GeneOrGeneProduct denotes PCSK9
T13 906-926 GeneOrGeneProduct denotes hypercholesterolemia
T14 1055-1060 GeneOrGeneProduct denotes PCSK9
T15 1091-1111 GeneOrGeneProduct denotes hypercholesterolemia

Test-merged-2

Id Subject Object Predicate Lexical cue #label ID:
T35421 630-636 SequenceVariant denotes R3500Q
T30216 814-819 SequenceVariant denotes D374Y
T9278 867-872 SequenceVariant denotes D374Y
T99890 877-882 SequenceVariant denotes N157K
T66898 884-889 SequenceVariant denotes D374Y
T47892 96-141 ChemicalEntity denotes Proprotein convertase subtilisin/kexin type 9 D000071449
T86888 269-280 ChemicalEntity denotes cholesterol D002784|http://purl.obolibrary.org/obo/CHEBI_16113
T89948 579-602 ChemicalEntity denotes low-density lipoprotein http://purl.obolibrary.org/obo/CHEBI_39026
T84945 644-658 ChemicalEntity denotes apolipoprotein http://purl.obolibrary.org/obo/CHEBI_39015
T29252 17-22 GeneOrGeneProduct denotes PCSK9
T64234 74-94 GeneOrGeneProduct denotes hypercholesterolemia
T50226 96-139 GeneOrGeneProduct denotes Proprotein convertase subtilisin/kexin type
T85471 143-148 GeneOrGeneProduct denotes PCSK9
T7959 187-207 GeneOrGeneProduct denotes hypercholesterolemia
T42813 243-248 GeneOrGeneProduct denotes PCSK9
T7 367-387 GeneOrGeneProduct denotes hypercholesterolemia
T8 442-447 GeneOrGeneProduct denotes PCSK9
T9 535-555 GeneOrGeneProduct denotes hypercholesterolemia
T10 579-611 GeneOrGeneProduct denotes low-density lipoprotein receptor
T11 644-664 GeneOrGeneProduct denotes apolipoprotein B-100
T12 766-771 GeneOrGeneProduct denotes PCSK9
T13 906-926 GeneOrGeneProduct denotes hypercholesterolemia
T14 1055-1060 GeneOrGeneProduct denotes PCSK9
T15 1091-1111 GeneOrGeneProduct denotes hypercholesterolemia
T59437 782-790 OrganismTaxon denotes patients
T77087 829-836 OrganismTaxon denotes patient
T1 55-94 DiseaseOrPhenotypicFeature denotes autosomal dominant hypercholesterolemia D006938
T2 168-207 DiseaseOrPhenotypicFeature denotes autosomal dominant hypercholesterolemia D006938
T3 367-387 DiseaseOrPhenotypicFeature denotes hypercholesterolemia D006937
T4 526-555 DiseaseOrPhenotypicFeature denotes familial hypercholesterolemia D006938
T5 906-926 DiseaseOrPhenotypicFeature denotes hypercholesterolemia D006937
T6 1072-1111 DiseaseOrPhenotypicFeature denotes autosomal dominant hypercholesterolemia D006938

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
15099351-6#0#5#geners764179870 884-889 geners764179870 denotes D374Y
15099351-6#0#5#geners137852912 884-889 geners137852912 denotes D374Y
15099351-6#22#42#diseaseC0020443 906-926 diseaseC0020443 denotes hypercholesterolemia
0#5#geners76417987022#42#diseaseC0020443 15099351-6#0#5#geners764179870 15099351-6#22#42#diseaseC0020443 associated_with D374Y,hypercholesterolemia
0#5#geners13785291222#42#diseaseC0020443 15099351-6#0#5#geners137852912 15099351-6#22#42#diseaseC0020443 associated_with D374Y,hypercholesterolemia

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
15099351-0#17#22#gene255738 442-447 gene255738 denotes PCSK9
15099351-0#55#94#diseaseC0745103 502-926 diseaseC0745103 denotes 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
15099351-3#53#58#gene255738 442-447 gene255738 denotes PCSK9
15099351-3#190#222#gene3949 579-611 gene3949 denotes low-density lipoprotein receptor
15099351-3#255#275#gene338 644-664 gene338 denotes apolipoprotein B-100
15099351-3#137#166#diseaseC0020445 526-555 diseaseC0020445 denotes familial hypercholesterolemia
15099351-3#137#166#diseaseC0745103 526-555 diseaseC0745103 denotes familial hypercholesterolemia
15099351-3#137#166#diseaseC0020445 526-555 diseaseC0020445 denotes familial hypercholesterolemia
15099351-3#137#166#diseaseC0745103 526-555 diseaseC0745103 denotes familial hypercholesterolemia
17#22#gene25573855#94#diseaseC0745103 15099351-0#17#22#gene255738 15099351-0#55#94#diseaseC0745103 associated_with PCSK9,"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"
53#58#gene255738137#166#diseaseC0020445 15099351-3#53#58#gene255738 15099351-3#137#166#diseaseC0020445 associated_with PCSK9,familial hypercholesterolemia
53#58#gene255738137#166#diseaseC0745103 15099351-3#53#58#gene255738 15099351-3#137#166#diseaseC0745103 associated_with PCSK9,familial hypercholesterolemia
53#58#gene255738137#166#diseaseC0020445 15099351-3#53#58#gene255738 15099351-3#137#166#diseaseC0020445 associated_with PCSK9,familial hypercholesterolemia
53#58#gene255738137#166#diseaseC0745103 15099351-3#53#58#gene255738 15099351-3#137#166#diseaseC0745103 associated_with PCSK9,familial hypercholesterolemia
190#222#gene3949137#166#diseaseC0020445 15099351-3#190#222#gene3949 15099351-3#137#166#diseaseC0020445 associated_with low-density lipoprotein receptor,familial hypercholesterolemia
190#222#gene3949137#166#diseaseC0745103 15099351-3#190#222#gene3949 15099351-3#137#166#diseaseC0745103 associated_with low-density lipoprotein receptor,familial hypercholesterolemia
190#222#gene3949137#166#diseaseC0020445 15099351-3#190#222#gene3949 15099351-3#137#166#diseaseC0020445 associated_with low-density lipoprotein receptor,familial hypercholesterolemia
190#222#gene3949137#166#diseaseC0745103 15099351-3#190#222#gene3949 15099351-3#137#166#diseaseC0745103 associated_with low-density lipoprotein receptor,familial hypercholesterolemia
255#275#gene338137#166#diseaseC0020445 15099351-3#255#275#gene338 15099351-3#137#166#diseaseC0020445 associated_with apolipoprotein B-100,familial hypercholesterolemia
255#275#gene338137#166#diseaseC0745103 15099351-3#255#275#gene338 15099351-3#137#166#diseaseC0745103 associated_with apolipoprotein B-100,familial hypercholesterolemia
255#275#gene338137#166#diseaseC0020445 15099351-3#255#275#gene338 15099351-3#137#166#diseaseC0020445 associated_with apolipoprotein B-100,familial hypercholesterolemia
255#275#gene338137#166#diseaseC0745103 15099351-3#255#275#gene338 15099351-3#137#166#diseaseC0745103 associated_with apolipoprotein B-100,familial hypercholesterolemia

DisGeNET

Id Subject Object Predicate Lexical cue
T0 17-22 gene:255738 denotes PCSK9
T1 55-94 disease:C0745103 denotes autosomal dominant hypercholesterolemia
T2 96-141 gene:255738 denotes Proprotein convertase subtilisin/kexin type 9
T3 168-207 disease:C0745103 denotes autosomal dominant hypercholesterolemia
T4 143-148 gene:255738 denotes PCSK9
T5 168-207 disease:C0745103 denotes autosomal dominant hypercholesterolemia
T6 243-248 gene:255738 denotes PCSK9
T7 168-207 disease:C0745103 denotes autosomal dominant hypercholesterolemia
T8 644-664 gene:338 denotes apolipoprotein B-100
T9 526-555 disease:C0020445 denotes familial hypercholesterolemia
T10 579-611 gene:3949 denotes low-density lipoprotein receptor
T11 526-555 disease:C0020445 denotes familial hypercholesterolemia
T12 442-447 gene:255738 denotes PCSK9
T13 526-555 disease:C0020445 denotes familial hypercholesterolemia
T14 1055-1060 gene:255738 denotes PCSK9
T15 1072-1111 disease:C0745103 denotes autosomal dominant hypercholesterolemia
R1 T0 T1 associated_with PCSK9,autosomal dominant hypercholesterolemia
R2 T2 T3 associated_with Proprotein convertase subtilisin/kexin type 9,autosomal dominant hypercholesterolemia
R3 T4 T5 associated_with PCSK9,autosomal dominant hypercholesterolemia
R4 T6 T7 associated_with PCSK9,autosomal dominant hypercholesterolemia
R5 T8 T9 associated_with apolipoprotein B-100,familial hypercholesterolemia
R6 T10 T11 associated_with low-density lipoprotein receptor,familial hypercholesterolemia
R7 T12 T13 associated_with PCSK9,familial hypercholesterolemia
R8 T14 T15 associated_with PCSK9,autosomal dominant hypercholesterolemia