PubMed:17003357 / 970-1276
Annnotations
LitCoin-entities-OrganismTaxon-PD
{"project":"LitCoin-entities-OrganismTaxon-PD","denotations":[{"id":"T1","span":{"begin":179,"end":184},"obj":"OrganismTaxon"}],"attributes":[{"id":"A1","pred":"db_id","subj":"T1","obj":"NCBItxid:79338"}],"text":"titution. Analysis of PTPN22 transcripts from a subject heterozygous for this variant indicated that it interfered with normal mRNA splicing, resulting in a premature termination codon after exon 17. These results support the conclusion that the 1858C/T allele is the major risk variant for type 1 diabetes"}
LitCoin-sentences
{"project":"LitCoin-sentences","denotations":[{"id":"T8","span":{"begin":10,"end":199},"obj":"Sentence"}],"text":"titution. Analysis of PTPN22 transcripts from a subject heterozygous for this variant indicated that it interfered with normal mRNA splicing, resulting in a premature termination codon after exon 17. These results support the conclusion that the 1858C/T allele is the major risk variant for type 1 diabetes"}
LitCoin-entities
{"project":"LitCoin-entities","denotations":[{"id":"3395","span":{"begin":22,"end":28},"obj":"GeneOrGeneProduct"},{"id":"3396","span":{"begin":246,"end":253},"obj":"SequenceVariant"},{"id":"3397","span":{"begin":291,"end":306},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A17","pred":"db_id","subj":"3395","obj":"NCBIGene:26191"},{"id":"A18","pred":"db_id","subj":"3396","obj":"DBSNP:rs2476601"},{"id":"A19","pred":"db_id","subj":"3397","obj":"MESH:D003922"}],"namespaces":[{"prefix":"_base","uri":"https://w3id.org/biolink/vocab/"},{"prefix":"MESH","uri":"http://id.nlm.nih.gov/mesh/"},{"prefix":"NCBITaxon","uri":"https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id="},{"prefix":"NCBIGene","uri":"https://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"OMIM","uri":"https://www.omim.org/entry/"},{"prefix":"DBSNP","uri":"https://www.ncbi.nlm.nih.gov/snp/"}],"text":"titution. Analysis of PTPN22 transcripts from a subject heterozygous for this variant indicated that it interfered with normal mRNA splicing, resulting in a premature termination codon after exon 17. These results support the conclusion that the 1858C/T allele is the major risk variant for type 1 diabetes"}
LitCoin-SeqVar
{"project":"LitCoin-SeqVar","denotations":[{"id":"T4","span":{"begin":246,"end":251},"obj":"SequenceVariant"}],"text":"titution. Analysis of PTPN22 transcripts from a subject heterozygous for this variant indicated that it interfered with normal mRNA splicing, resulting in a premature termination codon after exon 17. These results support the conclusion that the 1858C/T allele is the major risk variant for type 1 diabetes"}
LitCoin-GeneOrGeneProduct-v0
{"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T26","span":{"begin":22,"end":28},"obj":"GeneOrGeneProduct"},{"id":"T27","span":{"begin":29,"end":40},"obj":"GeneOrGeneProduct"},{"id":"T28","span":{"begin":127,"end":131},"obj":"GeneOrGeneProduct"},{"id":"T29","span":{"begin":132,"end":140},"obj":"GeneOrGeneProduct"},{"id":"T30","span":{"begin":152,"end":156},"obj":"GeneOrGeneProduct"},{"id":"T31","span":{"begin":268,"end":273},"obj":"GeneOrGeneProduct"},{"id":"T32","span":{"begin":298,"end":306},"obj":"GeneOrGeneProduct"}],"text":"titution. Analysis of PTPN22 transcripts from a subject heterozygous for this variant indicated that it interfered with normal mRNA splicing, resulting in a premature termination codon after exon 17. These results support the conclusion that the 1858C/T allele is the major risk variant for type 1 diabetes"}
LitCoin-GeneOrGeneProduct-v2
{"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T16","span":{"begin":22,"end":28},"obj":"GeneOrGeneProduct"},{"id":"T17","span":{"begin":127,"end":131},"obj":"GeneOrGeneProduct"},{"id":"T18","span":{"begin":268,"end":273},"obj":"GeneOrGeneProduct"},{"id":"T19","span":{"begin":298,"end":306},"obj":"GeneOrGeneProduct"}],"text":"titution. Analysis of PTPN22 transcripts from a subject heterozygous for this variant indicated that it interfered with normal mRNA splicing, resulting in a premature termination codon after exon 17. These results support the conclusion that the 1858C/T allele is the major risk variant for type 1 diabetes"}
LitCoin-Disease-MeSH
{"project":"LitCoin-Disease-MeSH","denotations":[{"id":"T7","span":{"begin":291,"end":306},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A7","pred":"originalLabel","subj":"T7","obj":"D003922"}],"text":"titution. Analysis of PTPN22 transcripts from a subject heterozygous for this variant indicated that it interfered with normal mRNA splicing, resulting in a premature termination codon after exon 17. These results support the conclusion that the 1858C/T allele is the major risk variant for type 1 diabetes"}
LitCoin-GeneOrGeneProduct-v3
{"project":"LitCoin-GeneOrGeneProduct-v3","denotations":[{"id":"T7","span":{"begin":22,"end":28},"obj":"GeneOrGeneProduct"}],"text":"titution. Analysis of PTPN22 transcripts from a subject heterozygous for this variant indicated that it interfered with normal mRNA splicing, resulting in a premature termination codon after exon 17. These results support the conclusion that the 1858C/T allele is the major risk variant for type 1 diabetes"}
LitCoin_Mondo_095
{"project":"LitCoin_Mondo_095","denotations":[{"id":"T8","span":{"begin":291,"end":306},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A8","pred":"mondo_id","subj":"T8","obj":"0005147"}],"text":"titution. Analysis of PTPN22 transcripts from a subject heterozygous for this variant indicated that it interfered with normal mRNA splicing, resulting in a premature termination codon after exon 17. These results support the conclusion that the 1858C/T allele is the major risk variant for type 1 diabetes"}
LitCoin-MeSH-Disease-2
{"project":"LitCoin-MeSH-Disease-2","denotations":[{"id":"T7","span":{"begin":291,"end":306},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A7","pred":"ID:","subj":"T7","obj":"D003922"}],"text":"titution. Analysis of PTPN22 transcripts from a subject heterozygous for this variant indicated that it interfered with normal mRNA splicing, resulting in a premature termination codon after exon 17. These results support the conclusion that the 1858C/T allele is the major risk variant for type 1 diabetes"}
LitCoin-MONDO_bioort2019
{"project":"LitCoin-MONDO_bioort2019","denotations":[{"id":"T7","span":{"begin":291,"end":306},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A7","pred":"#label","subj":"T7","obj":"D003922"}],"text":"titution. Analysis of PTPN22 transcripts from a subject heterozygous for this variant indicated that it interfered with normal mRNA splicing, resulting in a premature termination codon after exon 17. These results support the conclusion that the 1858C/T allele is the major risk variant for type 1 diabetes"}
LitCoin-training-merged
{"project":"LitCoin-training-merged","denotations":[{"id":"T7","span":{"begin":22,"end":28},"obj":"GeneOrGeneProduct"},{"id":"T6692","span":{"begin":291,"end":306},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T67104","span":{"begin":246,"end":251},"obj":"SequenceVariant"}],"attributes":[{"id":"A7","pred":"#label","subj":"T6692","obj":"D003922"}],"text":"titution. Analysis of PTPN22 transcripts from a subject heterozygous for this variant indicated that it interfered with normal mRNA splicing, resulting in a premature termination codon after exon 17. These results support the conclusion that the 1858C/T allele is the major risk variant for type 1 diabetes"}
DisGeNET
{"project":"DisGeNET","denotations":[{"id":"T9","span":{"begin":291,"end":306},"obj":"disease:C0011854"},{"id":"T13","span":{"begin":291,"end":306},"obj":"disease:C0011854"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"titution. Analysis of PTPN22 transcripts from a subject heterozygous for this variant indicated that it interfered with normal mRNA splicing, resulting in a premature termination codon after exon 17. These results support the conclusion that the 1858C/T allele is the major risk variant for type 1 diabetes"}
DisGeNET5_variant_disease
{"project":"DisGeNET5_variant_disease","denotations":[{"id":"17003357-8#46#53#geners2476601","span":{"begin":246,"end":253},"obj":"geners2476601"},{"id":"17003357-8#91#106#diseaseC0011854","span":{"begin":291,"end":306},"obj":"diseaseC0011854"}],"relations":[{"id":"46#53#geners247660191#106#diseaseC0011854","pred":"associated_with","subj":"17003357-8#46#53#geners2476601","obj":"17003357-8#91#106#diseaseC0011854"}],"text":"titution. Analysis of PTPN22 transcripts from a subject heterozygous for this variant indicated that it interfered with normal mRNA splicing, resulting in a premature termination codon after exon 17. These results support the conclusion that the 1858C/T allele is the major risk variant for type 1 diabetes"}
DisGeNET5_gene_disease
{"project":"DisGeNET5_gene_disease","denotations":[{"id":"17003357-0#50#65#diseaseC0011854","span":{"begin":0,"end":306},"obj":"diseaseC0011854"}],"text":"titution. Analysis of PTPN22 transcripts from a subject heterozygous for this variant indicated that it interfered with normal mRNA splicing, resulting in a premature termination codon after exon 17. These results support the conclusion that the 1858C/T allele is the major risk variant for type 1 diabetes"}
tmVarCorpus
{"project":"tmVarCorpus","denotations":[{"id":"T3","span":{"begin":246,"end":253},"obj":"DNAMutation:|SUB|C|1858|T"}],"text":"titution. Analysis of PTPN22 transcripts from a subject heterozygous for this variant indicated that it interfered with normal mRNA splicing, resulting in a premature termination codon after exon 17. These results support the conclusion that the 1858C/T allele is the major risk variant for type 1 diabetes"}