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PubMed:25914168 JSONTXT

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DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
25914168-10#48#57#geners9828519 1443-1452 geners9828519 denotes rs9828519
25914168-10#377#379#diseaseC0026769 1772-1774 diseaseC0026769 denotes MS
48#57#geners9828519377#379#diseaseC0026769 25914168-10#48#57#geners9828519 25914168-10#377#379#diseaseC0026769 associated_with rs9828519,MS

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
25914168-0#35#41#gene285195 824-1168 gene285195 denotes SULTS: We found an association between rs9828519(G) and nonresponse to IFNβ (pdiscovery = 4.43 × 10(-8)) and confirmed it in a meta-analysis across 3 replication data sets (preplication = 7.78 × 10(-4)). Only 1 gene is found in the linkage disequilibrium block containing rs9828519: SLC9A9. Exploring the function of this gene, we see that SLC9
25914168-0#45#63#diseaseC0026769 1192-1657 diseaseC0026769 denotes minished in MS subjects who are more likely to have relapses. Moreover, SLC9A9 knockdown in T cells in vitro leads an increase in expression of IFNγ, which is a proinflammatory molecule. INTERPRETATION: This study identifies and validates the role of rs9828519, an intronic variant in SLC9A9, in IFNβ-treated subjects, demonstrating a successful pharmacogenetic screen in MS. Functional characterization suggests that SLC9A9, an Na(+) -H(+) exchanger found in endos
25914168-10#169#171#gene4397 1564-1566 gene4397 denotes MS
25914168-10#377#379#diseaseC0026769 1772-1774 diseaseC0026769 denotes MS
25914168-4#62#66#gene3456 552-556 gene3456 denotes IFNβ
25914168-4#76#78#diseaseC0026769 566-568 diseaseC0026769 denotes MS
35#41#gene28519545#63#diseaseC0026769 25914168-0#35#41#gene285195 25914168-0#45#63#diseaseC0026769 associated_with "SULTS: We found an association between rs9828519(G) and nonresponse to IFNβ (pdiscovery = 4.43 × 10(-8)) and confirmed it in a meta-analysis across 3 replication data sets (preplication = 7.78 × 10(-4)). Only 1 gene is found in the linkage disequilibrium block containing rs9828519: SLC9A9. Exploring the function of this gene, we see that SLC9","minished in MS subjects who are more likely to have relapses. Moreover, SLC9A9 knockdown in T cells in vitro leads an increase in expression of IFNγ, which is a proinflammatory molecule. INTERPRETATION: This study identifies and validates the role of rs9828519, an intronic variant in SLC9A9, in IFNβ-treated subjects, demonstrating a successful pharmacogenetic screen in MS. Functional characterization suggests that SLC9A9, an Na(+) -H(+) exchanger found in endos"
169#171#gene4397377#379#diseaseC0026769 25914168-10#169#171#gene4397 25914168-10#377#379#diseaseC0026769 associated_with MS,MS
62#66#gene345676#78#diseaseC0026769 25914168-4#62#66#gene3456 25914168-4#76#78#diseaseC0026769 associated_with IFNβ,MS

PubTator4TogoVar

Id Subject Object Predicate Lexical cue resolved_to
35 863-872 SNP denotes rs9828519 tmVar:rs9828519;VariantGroup:0;CorrespondingGene:285195;RS#:9828519;CorrespondingSpecies:9606
37 1096-1105 SNP denotes rs9828519 tmVar:rs9828519;VariantGroup:0;CorrespondingGene:285195;RS#:9828519;CorrespondingSpecies:9606
44 1443-1452 SNP denotes rs9828519 tmVar:rs9828519;VariantGroup:0;CorrespondingGene:285195;RS#:9828519;CorrespondingSpecies:9606

PubTatorOnTogoVar

Id Subject Object Predicate Lexical cue resolved_to
35 863-872 SNP denotes rs9828519 tmVar:rs9828519;VariantGroup:0;CorrespondingGene:285195;RS#:9828519;CorrespondingSpecies:9606
37 1096-1105 SNP denotes rs9828519 tmVar:rs9828519;VariantGroup:0;CorrespondingGene:285195;RS#:9828519;CorrespondingSpecies:9606
44 1443-1452 SNP denotes rs9828519 tmVar:rs9828519;VariantGroup:0;CorrespondingGene:285195;RS#:9828519;CorrespondingSpecies:9606
T1 863-872 SNP denotes rs9828519 tmVar:rs9828519;VariantGroup:0;CorrespondingGene:285195;RS#:9828519;CorrespondingSpecies:9606
T2 1096-1105 SNP denotes rs9828519 tmVar:rs9828519;VariantGroup:0;CorrespondingGene:285195;RS#:9828519;CorrespondingSpecies:9606
T3 1443-1452 SNP denotes rs9828519 tmVar:rs9828519;VariantGroup:0;CorrespondingGene:285195;RS#:9828519;CorrespondingSpecies:9606