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PubMed:18805725 JSONTXT

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c_corpus

Id Subject Object Predicate Lexical cue
T1 26-31 PR:Q5S006 denotes LRRK2
T2 26-31 PR:000003033 denotes LRRK2
T3 26-31 PR:Q5S007 denotes LRRK2
T8 136-155 D010300 denotes Parkinson's disease
T9 136-155 D010300 denotes Parkinson's disease
T12 183-188 PR:Q5S006 denotes LRRK2
T13 183-188 PR:000003033 denotes LRRK2
T14 183-188 PR:Q5S007 denotes LRRK2
T15 189-193 SO:0000704 denotes gene
T20 251-270 D010300 denotes Parkinson's disease
T21 251-270 D010300 denotes Parkinson's disease
T24 452-457 PR:Q5S006 denotes LRRK2
T25 452-457 PR:000003033 denotes LRRK2
T26 452-457 PR:Q5S007 denotes LRRK2
T27 690-695 PR:Q5S006 denotes LRRK2
T28 690-695 PR:000003033 denotes LRRK2
T29 690-695 PR:Q5S007 denotes LRRK2
T30 696-700 SO:0000704 denotes gene
T31 765-773 SO:0000109 denotes mutation
T32 800-808 CHEBI:78059 denotes carriers
T33 1033-1038 PR:Q5S006 denotes LRRK2
T34 1033-1038 PR:000003033 denotes LRRK2
T35 1033-1038 PR:Q5S007 denotes LRRK2
T36 1107-1115 SO:0000109 denotes mutation
T37 1207-1214 SO:0001147 denotes variant
T38 1218-1221 PR:Q0VIA1 denotes ten
T39 1291-1299 SO:0000109 denotes mutation

UseCases_ArguminSci_Discourse

Id Subject Object Predicate Lexical cue
T1 0-165 DRI_Background denotes Genetic analysis for five LRRK2 mutations in a Sardinian parkinsonian population: importance of G2019S and R1441C mutations in sporadic Parkinson's disease patients.
T2 166-276 DRI_Background denotes Mutations in the LRRK2 gene are the most common known cause of familial and sporadic Parkinson's disease (PD).
T3 277-397 DRI_Background denotes Few studies performed to date to assess frequency of these mutations are actually only representative of specific areas.
T4 398-451 DRI_Approach denotes Here we study the frequency and clinical phenotype of
T5 452-464 Token_Label.OUTSIDE denotes LRRK2 G2019S
T6 464-560 DRI_Approach denotes , I2020T and R1441C/G/H mutations in 356 Sardinian patients with idiopathic PD and 208 controls.
T7 561-640 DRI_Background denotes Seventeen additional subjects, relatives of PD mutated probands, were enrolled.
T8 641-774 DRI_Background denotes Eight patients were mutated in heterozygosis for LRRK2 gene (2.3%): six carried the G2019S (1.7%) and two the R1441C (0.6%) mutation.
T9 775-979 DRI_Approach denotes Three PD patients G2019S carriers (50%) were detected in two contiguous villages comprising 3921 inhabitants while the other three (50%) were identified in the remaining population of 796,079 inhabitants.
T10 980-1032 DRI_Approach denotes Only one mutated proband had a family history of PD.
T11 1033-1038 REPLACED denotes LRRK2
T12 1039-1045 Token_Label.OUTSIDE denotes G2019S
T13 1046-1178 DRI_Background denotes and R1441C mutations associated with PD were not an uncommon mutation in a Sardinian population, especially in sporadic PD patients.
T14 1179-1365 DRI_Background denotes The detection of the G2019S variant in ten unaffected relatives confirms a reduced penetrance of the underlying mutation and might explain its prevalence among patients with sporadic PD.
T15 1366-1542 DRI_Background denotes These findings may provide new insights into the importance of studies of frequency of LRKK2 mutations in PD patients originating from small ethnically homogeneous populations.

PubMed_ArguminSci

Id Subject Object Predicate Lexical cue
T1 166-276 DRI_Background denotes Mutations in the LRRK2 gene are the most common known cause of familial and sporadic Parkinson's disease (PD).
T2 277-397 DRI_Background denotes Few studies performed to date to assess frequency of these mutations are actually only representative of specific areas.
T3 398-451 DRI_Approach denotes Here we study the frequency and clinical phenotype of
T4 464-560 DRI_Approach denotes , I2020T and R1441C/G/H mutations in 356 Sardinian patients with idiopathic PD and 208 controls.
T5 561-640 DRI_Background denotes Seventeen additional subjects, relatives of PD mutated probands, were enrolled.
T6 641-774 DRI_Background denotes Eight patients were mutated in heterozygosis for LRRK2 gene (2.3%): six carried the G2019S (1.7%) and two the R1441C (0.6%) mutation.
T7 775-979 DRI_Approach denotes Three PD patients G2019S carriers (50%) were detected in two contiguous villages comprising 3921 inhabitants while the other three (50%) were identified in the remaining population of 796,079 inhabitants.
T8 980-1032 DRI_Approach denotes Only one mutated proband had a family history of PD.
T9 1033-1038 REPLACED denotes LRRK2
T10 1046-1178 DRI_Background denotes and R1441C mutations associated with PD were not an uncommon mutation in a Sardinian population, especially in sporadic PD patients.
T11 1179-1365 DRI_Background denotes The detection of the G2019S variant in ten unaffected relatives confirms a reduced penetrance of the underlying mutation and might explain its prevalence among patients with sporadic PD.
T12 1366-1542 DRI_Background denotes These findings may provide new insights into the importance of studies of frequency of LRKK2 mutations in PD patients originating from small ethnically homogeneous populations.

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
18805725-8#17#23#geners33939927 1050-1056 geners33939927 denotes R1441C
18805725-8#50#52#diseaseC0030567 1083-1085 diseaseC0030567 denotes PD
18805725-9#21#27#geners34637584 1200-1206 geners34637584 denotes G2019S
18805725-9#183#185#diseaseC0030567 1362-1364 diseaseC0030567 denotes PD
17#23#geners3393992750#52#diseaseC0030567 18805725-8#17#23#geners33939927 18805725-8#50#52#diseaseC0030567 associated_with R1441C,PD
21#27#geners34637584183#185#diseaseC0030567 18805725-9#21#27#geners34637584 18805725-9#183#185#diseaseC0030567 associated_with G2019S,PD

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
18805725-8#0#5#gene120892 1033-1038 gene120892 denotes LRRK2
18805725-8#50#52#diseaseC0030567 1083-1085 diseaseC0030567 denotes PD
0#5#gene12089250#52#diseaseC0030567 18805725-8#0#5#gene120892 18805725-8#50#52#diseaseC0030567 associated_with LRRK2,PD