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PubMed:10382910 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-73 Sentence denotes Severe clinical expression in X-linked Emery-Dreifuss muscular dystrophy.
TextSentencer_T2 74-231 Sentence denotes X-linked Emery-Dreifuss muscular dystrophy (EDMD) is a relatively rare benign neuromuscular disorder which can vary remarkably in onset, course and severity.
TextSentencer_T3 232-448 Sentence denotes In the present study, a TCTAC deletion spanning the nucleotides 631-635 of the emerin gene caused an unusually severe disease phenotype including loss of ambulation and severe muscle wasting in two affected brothers.
TextSentencer_T4 449-560 Sentence denotes The same mutation has been reported previously in an unrelated family showing a significantly milder phenotype.
TextSentencer_T5 561-782 Sentence denotes The interfamilial heterogeneity in distribution and in severity of the features in the two families point to environmental or genetic modification as the cause of clinical variability in Emery-Dreifuss muscular dystrophy.
T1 0-73 Sentence denotes Severe clinical expression in X-linked Emery-Dreifuss muscular dystrophy.
T2 74-231 Sentence denotes X-linked Emery-Dreifuss muscular dystrophy (EDMD) is a relatively rare benign neuromuscular disorder which can vary remarkably in onset, course and severity.
T3 232-448 Sentence denotes In the present study, a TCTAC deletion spanning the nucleotides 631-635 of the emerin gene caused an unusually severe disease phenotype including loss of ambulation and severe muscle wasting in two affected brothers.
T4 449-560 Sentence denotes The same mutation has been reported previously in an unrelated family showing a significantly milder phenotype.
T5 561-782 Sentence denotes The interfamilial heterogeneity in distribution and in severity of the features in the two families point to environmental or genetic modification as the cause of clinical variability in Emery-Dreifuss muscular dystrophy.

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 98-116 HP:0003560 denotes muscular dystrophy
TI1 54-72 HP:0003560 denotes muscular dystrophy
AB2 763-781 HP:0003560 denotes muscular dystrophy

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 748-781 ORDO:261 denotes Emery-Dreifuss muscular dystrophy

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 30-72 SpecificDisease:D020389 denotes X-linked Emery-Dreifuss muscular dystrophy
T2 74-116 SpecificDisease:D020389 denotes X-linked Emery-Dreifuss muscular dystrophy
T3 118-122 SpecificDisease:D020389 denotes EDMD
T4 145-174 DiseaseClass:D009468 denotes benign neuromuscular disorder
T5 378-396 DiseaseClass:D051346 denotes loss of ambulation
T6 408-422 DiseaseClass:D009133 denotes muscle wasting
T7 748-781 SpecificDisease:D020389 denotes Emery-Dreifuss muscular dystrophy

DisGeNET

Id Subject Object Predicate Lexical cue
T0 311-317 gene:2010 denotes emerin
T1 408-422 disease:C0026846 denotes muscle wasting
R1 T0 T1 associated_with emerin,muscle wasting

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 74-82 HP_0001417 denotes X-linked
T2 98-116 HP_0003560 denotes muscular dystrophy
T3 763-781 HP_0003560 denotes muscular dystrophy

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T3526 30-72 SpecificDisease denotes X-linked Emery-Dreifuss muscular dystrophy D020389
T3527 74-116 SpecificDisease denotes X-linked Emery-Dreifuss muscular dystrophy D020389
T3528 118-122 SpecificDisease denotes EDMD D020389
T3529 145-174 DiseaseClass denotes benign neuromuscular disorder D009468
T3530 378-396 DiseaseClass denotes loss of ambulation D051346
T3531 408-422 DiseaseClass denotes muscle wasting D009133
T3532 748-781 SpecificDisease denotes Emery-Dreifuss muscular dystrophy D020389

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T3526 30-72 SpecificDisease denotes X-linked Emery-Dreifuss muscular dystrophy D020389
T3527 74-116 SpecificDisease denotes X-linked Emery-Dreifuss muscular dystrophy D020389
T3528 118-122 SpecificDisease denotes EDMD D020389
T3529 145-174 DiseaseClass denotes benign neuromuscular disorder D009468
T3530 378-396 DiseaseClass denotes loss of ambulation D051346
T3531 408-422 DiseaseClass denotes muscle wasting D009133
T3532 748-781 SpecificDisease denotes Emery-Dreifuss muscular dystrophy D020389

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 39-72 SpecificDisease denotes Emery-Dreifuss muscular dystrophy
T2 83-116 SpecificDisease denotes Emery-Dreifuss muscular dystrophy
T3 118-122 SpecificDisease denotes EDMD
T4 748-781 SpecificDisease denotes Emery-Dreifuss muscular dystrophy

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 30-72 SpecificDisease denotes X-linked Emery-Dreifuss muscular dystrophy
T2 74-116 SpecificDisease denotes X-linked Emery-Dreifuss muscular dystrophy
T3 118-122 Modifier denotes EDMD
T4 748-781 SpecificDisease denotes Emery-Dreifuss muscular dystrophy

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 30-72 SpecificDisease denotes X-linked Emery-Dreifuss muscular dystrophy
T2 74-116 SpecificDisease denotes X-linked Emery-Dreifuss muscular dystrophy
T3 748-781 SpecificDisease denotes Emery-Dreifuss muscular dystrophy

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 30-72 SpecificDisease denotes X-linked Emery-Dreifuss muscular dystrophy
T2 74-123 SpecificDisease denotes X-linked Emery-Dreifuss muscular dystrophy (EDMD)
T3 748-781 SpecificDisease denotes Emery-Dreifuss muscular dystrophy