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DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
15200509-4#158#165#geners137853083 654-661 geners137853083 denotes Tyr246X
15200509-4#57#60#diseaseC0031269 553-556 diseaseC0031269 denotes PJS
158#165#geners13785308357#60#diseaseC0031269 15200509-4#158#165#geners137853083 15200509-4#57#60#diseaseC0031269 associated_with Tyr246X,PJS

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
15200509-0#33#56#gene2011 33-56 gene2011 denotes serine-threonine kinase
15200509-0#57#62#gene6794 57-62 gene6794 denotes STK11
15200509-0#63#67#gene6794 63-67 gene6794 denotes LKB1
15200509-0#89#111#diseaseC0031269 89-111 diseaseC0031269 denotes Peutz-Jeghers syndrome
15200509-7#150#154#gene6794 1091-1095 gene6794 denotes LKB1
15200509-7#36#73#diseaseC3277418 977-1014 diseaseC3277418 denotes gastrointestinal hamartomatous polyps
33#56#gene201189#111#diseaseC0031269 15200509-0#33#56#gene2011 15200509-0#89#111#diseaseC0031269 associated_with serine-threonine kinase,Peutz-Jeghers syndrome
57#62#gene679489#111#diseaseC0031269 15200509-0#57#62#gene6794 15200509-0#89#111#diseaseC0031269 associated_with STK11,Peutz-Jeghers syndrome
63#67#gene679489#111#diseaseC0031269 15200509-0#63#67#gene6794 15200509-0#89#111#diseaseC0031269 associated_with LKB1,Peutz-Jeghers syndrome
150#154#gene679436#73#diseaseC3277418 15200509-7#150#154#gene6794 15200509-7#36#73#diseaseC3277418 associated_with LKB1,gastrointestinal hamartomatous polyps

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-112 Sentence denotes De novo germline mutation in the serine-threonine kinase STK11/LKB1 gene associated with Peutz-Jeghers syndrome.
TextSentencer_T2 113-263 Sentence denotes Peutz-Jeghers syndrome (PJS) is an autosomal dominant disease, characterized phenotypically by mucocutaneous pigmentation and hamartomatous polyposis.
TextSentencer_T3 264-361 Sentence denotes Affected patients are at an increased risk of developing gastrointestinal and other malignancies.
TextSentencer_T4 362-495 Sentence denotes Mutations in the STK11/LKB1 (LKB1) gene, which encodes for a serine-threonine kinase, have been identified as a genetic cause of PJS.
TextSentencer_T5 496-671 Sentence denotes Molecular analysis of the LKB1 gene in a simplex case of PJS revealed a substitution of cytosine (C) for guanine (G) at codon 246 in exon 6, resulting in the Tyr246X mutation.
TextSentencer_T6 672-820 Sentence denotes The nucleotide substitution leads to a premature stop codon at the 246 residue, predicting a truncated protein and presumed loss of kinase activity.
TextSentencer_T7 821-940 Sentence denotes Analysis of DNA from both parents of the PJS patient did not show this mutation, which is therefore a de novo mutation.
TextSentencer_T8 941-1221 Sentence denotes We isolated DNA from microdissected gastrointestinal hamartomatous polyps in the PJS patient and investigated the loss of heterozygosity (LOH) at the LKB1 locus by real-time fluorescence polymerase chain reaction genotyping using a fluorescent resonance energy transfer technique.
TextSentencer_T9 1222-1314 Sentence denotes The results suggest a different mechanism from LOH in the formation of hamartomatous polyps.
T1 0-112 Sentence denotes De novo germline mutation in the serine-threonine kinase STK11/LKB1 gene associated with Peutz-Jeghers syndrome.
T2 113-263 Sentence denotes Peutz-Jeghers syndrome (PJS) is an autosomal dominant disease, characterized phenotypically by mucocutaneous pigmentation and hamartomatous polyposis.
T3 264-361 Sentence denotes Affected patients are at an increased risk of developing gastrointestinal and other malignancies.
T4 362-495 Sentence denotes Mutations in the STK11/LKB1 (LKB1) gene, which encodes for a serine-threonine kinase, have been identified as a genetic cause of PJS.
T5 496-671 Sentence denotes Molecular analysis of the LKB1 gene in a simplex case of PJS revealed a substitution of cytosine (C) for guanine (G) at codon 246 in exon 6, resulting in the Tyr246X mutation.
T6 672-820 Sentence denotes The nucleotide substitution leads to a premature stop codon at the 246 residue, predicting a truncated protein and presumed loss of kinase activity.
T7 821-940 Sentence denotes Analysis of DNA from both parents of the PJS patient did not show this mutation, which is therefore a de novo mutation.
T8 941-1221 Sentence denotes We isolated DNA from microdissected gastrointestinal hamartomatous polyps in the PJS patient and investigated the loss of heterozygosity (LOH) at the LKB1 locus by real-time fluorescence polymerase chain reaction genotyping using a fluorescent resonance energy transfer technique.
T9 1222-1314 Sentence denotes The results suggest a different mechanism from LOH in the formation of hamartomatous polyps.

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 239-262 HP:0004390 denotes hamartomatous polyposis

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 113-135 ORDO:2869 denotes Peutz-Jeghers syndrome
AB2 137-140 ORDO:2869 denotes PJS
TI1 89-111 ORDO:2869 denotes Peutz-Jeghers syndrome
AB3 491-494 ORDO:2869 denotes PJS
AB4 553-556 ORDO:2869 denotes PJS
AB5 862-865 ORDO:2869 denotes PJS
AB6 1022-1025 ORDO:2869 denotes PJS

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 654-661 ProteinMutation:p|SUB|Y|246|X denotes Tyr246X

DisGeNET

Id Subject Object Predicate Lexical cue
T0 33-56 gene:2011 denotes serine-threonine kinase
T1 89-111 disease:C0031269 denotes Peutz-Jeghers syndrome
T2 57-62 gene:6794 denotes STK11
T3 89-111 disease:C0031269 denotes Peutz-Jeghers syndrome
T4 63-67 gene:6794 denotes LKB1
T5 89-111 disease:C0031269 denotes Peutz-Jeghers syndrome
T6 385-389 gene:6794 denotes LKB1
T7 491-494 disease:C0031269 denotes PJS
T8 423-446 gene:2011 denotes serine-threonine kinase
T9 491-494 disease:C0031269 denotes PJS
T10 391-395 gene:6794 denotes LKB1
T11 491-494 disease:C0031269 denotes PJS
T12 522-526 gene:6794 denotes LKB1
T13 553-556 disease:C0031269 denotes PJS
T14 1091-1095 gene:6794 denotes LKB1
T15 994-1014 disease:C0334092 denotes hamartomatous polyps
T16 1091-1095 gene:6794 denotes LKB1
T17 1022-1025 disease:C0031269 denotes PJS
R1 T0 T1 associated_with serine-threonine kinase,Peutz-Jeghers syndrome
R2 T2 T3 associated_with STK11,Peutz-Jeghers syndrome
R3 T4 T5 associated_with LKB1,Peutz-Jeghers syndrome
R4 T6 T7 associated_with LKB1,PJS
R5 T8 T9 associated_with serine-threonine kinase,PJS
R6 T10 T11 associated_with LKB1,PJS
R7 T12 T13 associated_with LKB1,PJS
R8 T14 T15 associated_with LKB1,hamartomatous polyps
R9 T16 T17 associated_with LKB1,PJS