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PubMed:8178825 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-78 Sentence denotes Huntington disease without CAG expansion: phenocopies or errors in assignment?
TextSentencer_T2 79-200 Sentence denotes Huntington disease (HD) has been shown to be associated with an expanded CAG repeat within a novel gene on 4p16.3 (IT15).
TextSentencer_T3 201-312 Sentence denotes A total of 30 of 1,022 affected persons (2.9% of our cohort) did not have an expanded CAG in the disease range.
TextSentencer_T4 313-619 Sentence denotes The reasons for not observing expansion in affected individuals are important for determining the sensitivity of using repeat length both for diagnosis of affected patients and for predictive testing programs and may have biological relevance for the understanding of the molecular mechanism underlying HD.
TextSentencer_T5 620-758 Sentence denotes Here we show that the majority (18) of the individuals with normal sized alleles represent misdiagnosis, sample mix-up, or clerical error.
TextSentencer_T6 759-823 Sentence denotes The remaining 12 patients represent possible phenocopies for HD.
TextSentencer_T7 824-944 Sentence denotes In at least four cases, family studies of these phenocopies excluded 4p16.3 as the region responsible for the phenotype.
TextSentencer_T8 945-1209 Sentence denotes Mutations in the HD gene that are other than CAG expansion have not been excluded for the remaining eight cases; however, in as many as seven of these persons, retrospective review of these patients' clinical features identified characteristics not typical for HD.
TextSentencer_T9 1210-1358 Sentence denotes This study shows that on rare occasions mutations in other, as-yet-undefined genes can present with a clinical phenotype very similar to that of HD.
T1 0-78 Sentence denotes Huntington disease without CAG expansion: phenocopies or errors in assignment?
T2 79-200 Sentence denotes Huntington disease (HD) has been shown to be associated with an expanded CAG repeat within a novel gene on 4p16.3 (IT15).
T3 201-312 Sentence denotes A total of 30 of 1,022 affected persons (2.9% of our cohort) did not have an expanded CAG in the disease range.
T4 313-619 Sentence denotes The reasons for not observing expansion in affected individuals are important for determining the sensitivity of using repeat length both for diagnosis of affected patients and for predictive testing programs and may have biological relevance for the understanding of the molecular mechanism underlying HD.
T5 620-758 Sentence denotes Here we show that the majority (18) of the individuals with normal sized alleles represent misdiagnosis, sample mix-up, or clerical error.
T6 759-823 Sentence denotes The remaining 12 patients represent possible phenocopies for HD.
T7 824-944 Sentence denotes In at least four cases, family studies of these phenocopies excluded 4p16.3 as the region responsible for the phenotype.
T8 945-1209 Sentence denotes Mutations in the HD gene that are other than CAG expansion have not been excluded for the remaining eight cases; however, in as many as seven of these persons, retrospective review of these patients' clinical features identified characteristics not typical for HD.
T9 1210-1358 Sentence denotes This study shows that on rare occasions mutations in other, as-yet-undefined genes can present with a clinical phenotype very similar to that of HD.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 194-198 gene:3064 denotes IT15
T1 79-97 disease:C0020179 denotes Huntington disease
T2 194-198 gene:3064 denotes IT15
T3 99-101 disease:C0020179 denotes HD
R1 T0 T1 associated_with IT15,Huntington disease
R2 T2 T3 associated_with IT15,HD

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
8178825-1#115#119#gene3064 194-198 gene3064 denotes IT15
8178825-1#0#18#diseaseC0020179 79-97 diseaseC0020179 denotes Huntington disease
8178825-1#20#22#diseaseC0020179 99-101 diseaseC0020179 denotes HD
115#119#gene30640#18#diseaseC0020179 8178825-1#115#119#gene3064 8178825-1#0#18#diseaseC0020179 associated_with IT15,Huntington disease
115#119#gene306420#22#diseaseC0020179 8178825-1#115#119#gene3064 8178825-1#20#22#diseaseC0020179 associated_with IT15,HD

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 0-18 ORDO:399 denotes Huntington disease

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 0-18 SpecificDisease:D006816 denotes Huntington disease
T2 79-97 SpecificDisease:D006816 denotes Huntington disease
T3 99-101 SpecificDisease:D006816 denotes HD
T4 616-618 SpecificDisease:D006816 denotes HD
T5 820-822 SpecificDisease:D006816 denotes HD
T6 962-964 Modifier:D006816 denotes HD
T7 1206-1208 SpecificDisease:D006816 denotes HD
T8 1355-1357 SpecificDisease:D006816 denotes HD

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T3478 0-18 SpecificDisease denotes Huntington disease D006816
T3479 79-97 SpecificDisease denotes Huntington disease D006816
T3480 99-101 SpecificDisease denotes HD D006816
T3481 616-618 SpecificDisease denotes HD D006816
T3482 820-822 SpecificDisease denotes HD D006816
T3483 962-964 Modifier denotes HD D006816
T3484 1206-1208 SpecificDisease denotes HD D006816
T3485 1355-1357 SpecificDisease denotes HD D006816

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T3478 0-18 SpecificDisease denotes Huntington disease D006816
T3479 79-97 SpecificDisease denotes Huntington disease D006816
T3480 99-101 SpecificDisease denotes HD D006816
T3481 616-618 SpecificDisease denotes HD D006816
T3482 820-822 SpecificDisease denotes HD D006816
T3483 962-964 Modifier denotes HD D006816
T3484 1206-1208 SpecificDisease denotes HD D006816
T3485 1355-1357 SpecificDisease denotes HD D006816

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 79-97 SpecificDisease denotes Huntington disease
T2 99-101 SpecificDisease denotes HD
T3 616-618 SpecificDisease denotes HD
T4 820-822 SpecificDisease denotes HD
T5 962-964 SpecificDisease denotes HD
T6 1206-1208 SpecificDisease denotes HD
T7 1355-1357 SpecificDisease denotes HD

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 0-18 SpecificDisease denotes Huntington disease
T2 79-97 SpecificDisease denotes Huntington disease
T3 99-101 SpecificDisease denotes HD
T4 616-618 SpecificDisease denotes HD
T5 820-822 SpecificDisease denotes HD
T6 962-964 Modifier denotes HD
T7 1206-1208 SpecificDisease denotes HD
T8 1355-1357 SpecificDisease denotes HD

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 0-18 SpecificDisease denotes Huntington disease
T2 79-97 SpecificDisease denotes Huntington disease
T3 99-101 SpecificDisease denotes HD
T4 298-305 SpecificDisease denotes disease
T5 356-364 Modifier denotes affected
T6 455-464 Modifier denotes diagnosis
T7 468-485 Modifier denotes affected patients
T8 616-618 SpecificDisease denotes HD
T9 820-822 SpecificDisease denotes HD
T10 962-964 SpecificDisease denotes HD
T11 1206-1208 SpecificDisease denotes HD
T12 1355-1357 SpecificDisease denotes HD

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 0-18 SpecificDisease denotes Huntington disease
T2 79-102 SpecificDisease denotes Huntington disease (HD)
T3 616-618 SpecificDisease denotes HD
T4 820-822 SpecificDisease denotes HD
T5 962-964 SpecificDisease denotes HD
T6 1206-1208 SpecificDisease denotes HD
T7 1355-1357 SpecificDisease denotes HD