> top > docs > PubMed:10480214 > annotations

PubMed:10480214 JSONTXT

Annnotations TAB JSON ListView MergeView

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-93 Sentence denotes Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion.
TextSentencer_T2 94-308 Sentence denotes A boy developed contractures of the Achilles tendons at 3 years and of the postcervical muscles at 7 years, although neither contractures of the elbows nor cardiac abnormality were recognized by the age of 9 years.
TextSentencer_T3 309-399 Sentence denotes Muscle computed tomography scanning revealed changes characteristic of muscle involvement.
TextSentencer_T4 400-566 Sentence denotes Emerin was not detected in the biopsied muscle, and RT-PCR and PCR-based genomic DNA analyses of the emerin gene demonstrated no amplification product in the patient.
TextSentencer_T5 567-861 Sentence denotes These results confirmed the diagnosis of X-linked Emery-Dreifuss muscular dystrophy (EDMD), and reinforce the necessity of molecular genetic diagnosis of the membrane protein emerin in younger patients with possible EDMD before appearance of the typical symptoms, to avoid sudden cardiac death.
T1 0-93 Sentence denotes Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion.
T2 94-308 Sentence denotes A boy developed contractures of the Achilles tendons at 3 years and of the postcervical muscles at 7 years, although neither contractures of the elbows nor cardiac abnormality were recognized by the age of 9 years.
T3 309-399 Sentence denotes Muscle computed tomography scanning revealed changes characteristic of muscle involvement.
T4 400-566 Sentence denotes Emerin was not detected in the biopsied muscle, and RT-PCR and PCR-based genomic DNA analyses of the emerin gene demonstrated no amplification product in the patient.
T5 567-861 Sentence denotes These results confirmed the diagnosis of X-linked Emery-Dreifuss muscular dystrophy (EDMD), and reinforce the necessity of molecular genetic diagnosis of the membrane protein emerin in younger patients with possible EDMD before appearance of the typical symptoms, to avoid sudden cardiac death.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 110-146 HP_0001771 denotes contractures of the Achilles tendons
T2 110-122 HP_0001371 denotes contractures
T3 219-231 HP_0001371 denotes contractures
T4 219-245 HP_0002987 denotes contractures of the elbows
T5 239-269 HP_0009811 denotes elbows nor cardiac abnormality
T6 250-269 HP_0001627 denotes cardiac abnormality
T7 608-616 HP_0001417 denotes X-linked
T8 632-650 HP_0003560 denotes muscular dystrophy
T9 840-860 HP_0001645 denotes sudden cardiac death

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10480214-0#72#78#gene2010 72-78 gene2010 denotes emerin
10480214-0#15#57#diseaseC0751337 15-57 diseaseC0751337 denotes X-linked Emery-Dreifuss muscular dystrophy
72#78#gene201015#57#diseaseC0751337 10480214-0#72#78#gene2010 10480214-0#15#57#diseaseC0751337 associated_with emerin,X-linked Emery-Dreifuss muscular dystrophy

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 139-146 http://purl.obolibrary.org/obo/UBERON_0000043 denotes tendons
PD-UBERON-AE-B_T2 239-245 http://purl.obolibrary.org/obo/UBERON_0001461 denotes elbows

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 139-146 http://purl.obolibrary.org/obo/UBERON_0000043 denotes tendons
PD-UBERON-AE-B_T2 239-245 http://purl.obolibrary.org/obo/UBERON_0001461 denotes elbows

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 39-57 HP:0003560 denotes muscular dystrophy
AB1 632-650 HP:0003560 denotes muscular dystrophy
AB2 840-860 HP:0001645 denotes sudden cardiac death

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 652-656 ORDO:261 denotes EDMD
AB2 783-787 ORDO:261 denotes EDMD

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 15-57 SpecificDisease:D020389 denotes X-linked Emery-Dreifuss muscular dystrophy
T2 110-146 DiseaseClass:D003286 denotes contractures of the Achilles tendons
T3 219-245 DiseaseClass:D003286 denotes contractures of the elbows
T4 250-269 DiseaseClass:D018376 denotes cardiac abnormality
T5 608-650 SpecificDisease:D020389 denotes X-linked Emery-Dreifuss muscular dystrophy
T6 652-656 SpecificDisease:D020389 denotes EDMD
T7 783-787 SpecificDisease:D020389 denotes EDMD
T8 840-860 SpecificDisease:D016757 denotes sudden cardiac death

DisGeNET

Id Subject Object Predicate Lexical cue
T0 742-748 gene:2010 denotes emerin
T1 608-650 disease:C0751337 denotes X-linked Emery-Dreifuss muscular dystrophy
T2 742-748 gene:2010 denotes emerin
T3 783-787 disease:C0751337 denotes EDMD
R1 T0 T1 associated_with emerin,X-linked Emery-Dreifuss muscular dystrophy
R2 T2 T3 associated_with emerin,EDMD

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T548 15-57 SpecificDisease denotes X-linked Emery-Dreifuss muscular dystrophy D020389
T549 110-146 DiseaseClass denotes contractures of the Achilles tendons D003286
T550 219-245 DiseaseClass denotes contractures of the elbows D003286
T551 250-269 DiseaseClass denotes cardiac abnormality D018376
T552 608-650 SpecificDisease denotes X-linked Emery-Dreifuss muscular dystrophy D020389
T553 652-656 SpecificDisease denotes EDMD D020389
T554 783-787 SpecificDisease denotes EDMD D020389
T555 840-860 SpecificDisease denotes sudden cardiac death D016757

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T548 15-57 SpecificDisease denotes X-linked Emery-Dreifuss muscular dystrophy D020389
T549 110-146 DiseaseClass denotes contractures of the Achilles tendons D003286
T550 219-245 DiseaseClass denotes contractures of the elbows D003286
T551 250-269 DiseaseClass denotes cardiac abnormality D018376
T552 608-650 SpecificDisease denotes X-linked Emery-Dreifuss muscular dystrophy D020389
T553 652-656 SpecificDisease denotes EDMD D020389
T554 783-787 SpecificDisease denotes EDMD D020389
T555 840-860 SpecificDisease denotes sudden cardiac death D016757

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 15-57 SpecificDisease denotes X-linked Emery-Dreifuss muscular dystrophy
T2 250-269 DiseaseClass denotes cardiac abnormality
T3 608-650 SpecificDisease denotes X-linked Emery-Dreifuss muscular dystrophy
T4 652-656 SpecificDisease denotes EDMD
T5 783-787 SpecificDisease denotes EDMD
T6 847-860 SpecificDisease denotes cardiac death

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 15-57 SpecificDisease denotes X-linked Emery-Dreifuss muscular dystrophy
T2 608-650 SpecificDisease denotes X-linked Emery-Dreifuss muscular dystrophy
T3 652-656 SpecificDisease denotes EDMD
T4 783-787 SpecificDisease denotes EDMD

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 15-57 SpecificDisease denotes X-linked Emery-Dreifuss muscular dystrophy
T2 250-269 Modifier denotes cardiac abnormality
T3 608-650 SpecificDisease denotes X-linked Emery-Dreifuss muscular dystrophy
T4 652-656 SpecificDisease denotes EDMD
T5 783-787 SpecificDisease denotes EDMD

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 15-57 SpecificDisease denotes X-linked Emery-Dreifuss muscular dystrophy
T2 250-269 DiseaseClass denotes cardiac abnormality
T3 380-386 Modifier denotes muscle
T4 608-657 SpecificDisease denotes X-linked Emery-Dreifuss muscular dystrophy (EDMD)
T5 774-782 Modifier denotes possible
T6 783-787 SpecificDisease denotes EDMD
T7 847-860 DiseaseClass denotes cardiac death