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PubMed:15099351 JSONTXT 12 Projects

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Id Subject Object Predicate Lexical cue
15099351-0#17#22#gene255738 442-447 gene255738 denotes PCSK9
15099351-3#53#58#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#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
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
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"
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#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#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#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#diseaseC0745103 15099351-3#255#275#gene338 15099351-3#137#166#diseaseC0745103 associated_with apolipoprotein B-100,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#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#diseaseC0745103 15099351-3#53#58#gene255738 15099351-3#137#166#diseaseC0745103 associated_with PCSK9,familial hypercholesterolemia