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PubMed:1302032 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-66 Sentence denotes Fragile X syndrome without CCG amplification has an FMR1 deletion.
TextSentencer_T2 67-249 Sentence denotes We describe a patient with typical clinical features of the fragile X syndrome, but without cytogenetic expression of the fragile X or an amplified CCG trinucleotide repeat fragment.
TextSentencer_T3 250-415 Sentence denotes The patient has a previously uncharacterized submicroscopic deletion encompassing the CCG repeat, the entire FMR1 gene and about 2.5 megabases of flanking sequences.
TextSentencer_T4 416-643 Sentence denotes This finding confirms that the fragile X phenotype can exist, without amplification of the CCG repeat or cytogenetic expression of the fragile X, and that fragile X syndrome is a genetically homogeneous disorder involving FMR1.
TextSentencer_T5 644-756 Sentence denotes We also found random X-inactivation in the mother of the patient who was shown to be a carrier of this deletion.
T1 0-66 Sentence denotes Fragile X syndrome without CCG amplification has an FMR1 deletion.
T2 67-249 Sentence denotes We describe a patient with typical clinical features of the fragile X syndrome, but without cytogenetic expression of the fragile X or an amplified CCG trinucleotide repeat fragment.
T3 250-415 Sentence denotes The patient has a previously uncharacterized submicroscopic deletion encompassing the CCG repeat, the entire FMR1 gene and about 2.5 megabases of flanking sequences.
T4 416-643 Sentence denotes This finding confirms that the fragile X phenotype can exist, without amplification of the CCG repeat or cytogenetic expression of the fragile X, and that fragile X syndrome is a genetically homogeneous disorder involving FMR1.
T5 644-756 Sentence denotes We also found random X-inactivation in the mother of the patient who was shown to be a carrier of this deletion.

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
1302032-0#52#56#gene2332 638-642 gene2332 denotes FMR1
1302032-0#0#18#diseaseC0016667 52-145 diseaseC0016667 denotes FMR1 deletion. We describe a patient with typical clinical features of the fragile X syndrome
52#56#gene23320#18#diseaseC0016667 1302032-0#52#56#gene2332 1302032-0#0#18#diseaseC0016667 associated_with FMR1,"FMR1 deletion. We describe a patient with typical clinical features of the fragile X syndrome"

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 0-18 ORDO:908 denotes Fragile X syndrome
AB1 127-145 ORDO:908 denotes fragile X syndrome
AB2 571-589 ORDO:908 denotes fragile X syndrome

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 0-18 SpecificDisease:D005600 denotes Fragile X syndrome
T2 127-145 SpecificDisease:D005600 denotes fragile X syndrome
T3 189-198 SpecificDisease:D005600 denotes fragile X
T4 447-456 Modifier:D005600 denotes fragile X
T5 551-560 SpecificDisease:D005600 denotes fragile X
T6 571-589 SpecificDisease:D005600 denotes fragile X syndrome

DisGeNET

Id Subject Object Predicate Lexical cue
T0 52-56 gene:2477 denotes FMR1
T1 0-18 disease:C0016667 denotes Fragile X syndrome
T2 52-56 gene:2332 denotes FMR1
T3 0-18 disease:C0016667 denotes Fragile X syndrome
R1 T0 T1 associated_with FMR1,Fragile X syndrome
R2 T2 T3 associated_with FMR1,Fragile X syndrome

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T2621 0-18 SpecificDisease denotes Fragile X syndrome D005600
T2622 127-145 SpecificDisease denotes fragile X syndrome D005600
T2623 189-198 SpecificDisease denotes fragile X D005600
T2624 447-456 Modifier denotes fragile X D005600
T2625 551-560 SpecificDisease denotes fragile X D005600
T2626 571-589 SpecificDisease denotes fragile X syndrome D005600

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T2621 0-18 SpecificDisease denotes Fragile X syndrome D005600
T2622 127-145 SpecificDisease denotes fragile X syndrome D005600
T2623 189-198 SpecificDisease denotes fragile X D005600
T2624 447-456 Modifier denotes fragile X D005600
T2625 551-560 SpecificDisease denotes fragile X D005600
T2626 571-589 SpecificDisease denotes fragile X syndrome D005600

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 8-18 SpecificDisease denotes X syndrome
T2 127-145 SpecificDisease denotes fragile X syndrome
T3 189-198 SpecificDisease denotes fragile X
T4 447-466 Modifier denotes fragile X phenotype
T5 551-560 SpecificDisease denotes fragile X
T6 571-589 SpecificDisease denotes fragile X syndrome

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 8-18 CompositeMention denotes X syndrome
T2 135-145 CompositeMention denotes X syndrome
T3 197-198 SpecificDisease denotes X
T4 455-466 CompositeMention denotes X phenotype
T5 559-560 SpecificDisease denotes X
T6 579-589 CompositeMention denotes X syndrome

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 0-18 SpecificDisease denotes Fragile X syndrome
T2 127-145 SpecificDisease denotes fragile X syndrome
T3 189-198 SpecificDisease denotes fragile X
T4 447-466 Modifier denotes fragile X phenotype
T5 551-560 SpecificDisease denotes fragile X
T6 571-589 SpecificDisease denotes fragile X syndrome

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 0-18 SpecificDisease denotes Fragile X syndrome
T2 127-145 SpecificDisease denotes fragile X syndrome
T3 189-198 SpecificDisease denotes fragile X
T4 447-466 CompositeMention denotes fragile X phenotype
T5 551-560 SpecificDisease denotes fragile X
T6 571-589 SpecificDisease denotes fragile X syndrome