PubMed:7726234
Annnotations
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-71 | Sentence | denotes | Duchenne muscular dystrophy and myotonic dystrophy in the same patient. |
| TextSentencer_T2 | 72-176 | Sentence | denotes | We report on the first patient identified with myotonic dystrophy and Duchenne muscular dystrophy (DMD). |
| TextSentencer_T3 | 177-481 | Sentence | denotes | The family of the propositus had a strong history of myotonic dystrophy, and there was an intrafamilial pathological expansion of the responsible CTG repeat between the mildly affected mother (160 repeats; normal 27 repeats) and her more severely affected son (650 repeats), and his sister (650 repeats). |
| TextSentencer_T4 | 482-600 | Sentence | denotes | The propositus was an isolated case of Duchenne muscular dystrophy with marked dystrophin deficiency in muscle biopsy. |
| TextSentencer_T5 | 601-646 | Sentence | denotes | The patient was still ambulatory post age 16. |
| TextSentencer_T6 | 647-740 | Sentence | denotes | Myotonic dystrophy could interfere to some extent with the progression of Duchenne dystrophy. |
| TextSentencer_T7 | 741-785 | Sentence | denotes | However, other interpretations are possible. |
| TextSentencer_T8 | 786-977 | Sentence | denotes | Twelve percent of dystrophin revertant fibers as observed by immunohistochemistry could be sufficient to ameliorate typical DMD clinical severity, or the patient may present a somatic mosaic. |
| TextSentencer_T9 | 978-1105 | Sentence | denotes | The pathophysiological interactions of these two unlinked disorders are discussed at the clinical and histopathological levels. |
| T1 | 0-71 | Sentence | denotes | Duchenne muscular dystrophy and myotonic dystrophy in the same patient. |
| T2 | 72-176 | Sentence | denotes | We report on the first patient identified with myotonic dystrophy and Duchenne muscular dystrophy (DMD). |
| T3 | 177-481 | Sentence | denotes | The family of the propositus had a strong history of myotonic dystrophy, and there was an intrafamilial pathological expansion of the responsible CTG repeat between the mildly affected mother (160 repeats; normal 27 repeats) and her more severely affected son (650 repeats), and his sister (650 repeats). |
| T4 | 482-600 | Sentence | denotes | The propositus was an isolated case of Duchenne muscular dystrophy with marked dystrophin deficiency in muscle biopsy. |
| T5 | 601-646 | Sentence | denotes | The patient was still ambulatory post age 16. |
| T6 | 647-740 | Sentence | denotes | Myotonic dystrophy could interfere to some extent with the progression of Duchenne dystrophy. |
| T7 | 741-785 | Sentence | denotes | However, other interpretations are possible. |
| T8 | 786-977 | Sentence | denotes | Twelve percent of dystrophin revertant fibers as observed by immunohistochemistry could be sufficient to ameliorate typical DMD clinical severity, or the patient may present a somatic mosaic. |
| T9 | 978-1105 | Sentence | denotes | The pathophysiological interactions of these two unlinked disorders are discussed at the clinical and histopathological levels. |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 561-571 | gene:1756 | denotes | dystrophin |
| T1 | 521-548 | disease:C0013264 | denotes | Duchenne muscular dystrophy |
| T2 | 804-814 | gene:1756 | denotes | dystrophin |
| T3 | 910-913 | disease:C0026850 | denotes | DMD |
| R1 | T0 | T1 | associated_with | dystrophin,Duchenne muscular dystrophy |
| R2 | T2 | T3 | associated_with | dystrophin,DMD |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 7726234-7#18#28#gene1756 | 804-814 | gene1756 | denotes | dystrophin |
| 7726234-7#124#127#diseaseC0013264 | 910-913 | diseaseC0013264 | denotes | DMD |
| 18#28#gene1756124#127#diseaseC0013264 | 7726234-7#18#28#gene1756 | 7726234-7#124#127#diseaseC0013264 | associated_with | dystrophin,DMD |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 9-27 | HP:0003560 | denotes | muscular dystrophy |
| AB1 | 151-169 | HP:0003560 | denotes | muscular dystrophy |
| AB2 | 530-548 | HP:0003560 | denotes | muscular dystrophy |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 0-27 | ORDO:98896 | denotes | Duchenne muscular dystrophy |
| AB1 | 142-169 | ORDO:98896 | denotes | Duchenne muscular dystrophy |
| AB2 | 171-174 | ORDO:98896 | denotes | DMD |
| AB3 | 521-548 | ORDO:98896 | denotes | Duchenne muscular dystrophy |
| AB4 | 910-913 | ORDO:98896 | denotes | DMD |
NCBIDiseaseCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-27 | SpecificDisease:D020388 | denotes | Duchenne muscular dystrophy |
| T2 | 32-50 | SpecificDisease:D009223 | denotes | myotonic dystrophy |
| T3 | 119-137 | SpecificDisease:D009223 | denotes | myotonic dystrophy |
| T4 | 142-169 | SpecificDisease:D020388 | denotes | Duchenne muscular dystrophy |
| T5 | 171-174 | SpecificDisease:D020388 | denotes | DMD |
| T6 | 230-248 | SpecificDisease:D009223 | denotes | myotonic dystrophy |
| T7 | 521-548 | SpecificDisease:D020388 | denotes | Duchenne muscular dystrophy |
| T8 | 561-582 | SpecificDisease:OMIM:310200 | denotes | dystrophin deficiency |
| T9 | 647-665 | SpecificDisease:D009223 | denotes | Myotonic dystrophy |
| T10 | 721-739 | SpecificDisease:D020388 | denotes | Duchenne dystrophy |
| T11 | 910-913 | Modifier:D020388 | denotes | DMD |
NCBI-Disease-Train
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T4429 | 0-27 | SpecificDisease | denotes | Duchenne muscular dystrophy | D020388 |
| T4430 | 32-50 | SpecificDisease | denotes | myotonic dystrophy | D009223 |
| T4431 | 119-137 | SpecificDisease | denotes | myotonic dystrophy | D009223 |
| T4432 | 142-169 | SpecificDisease | denotes | Duchenne muscular dystrophy | D020388 |
| T4433 | 171-174 | SpecificDisease | denotes | DMD | D020388 |
| T4434 | 230-248 | SpecificDisease | denotes | myotonic dystrophy | D009223 |
| T4435 | 521-548 | SpecificDisease | denotes | Duchenne muscular dystrophy | D020388 |
| T4436 | 561-582 | SpecificDisease | denotes | dystrophin deficiency | OMIM:310200 |
| T4437 | 647-665 | SpecificDisease | denotes | Myotonic dystrophy | D009223 |
| T4438 | 721-739 | SpecificDisease | denotes | Duchenne dystrophy | D020388 |
| T4439 | 910-913 | Modifier | denotes | DMD | D020388 |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T4429 | 0-27 | SpecificDisease | denotes | Duchenne muscular dystrophy | D020388 |
| T4430 | 32-50 | SpecificDisease | denotes | myotonic dystrophy | D009223 |
| T4431 | 119-137 | SpecificDisease | denotes | myotonic dystrophy | D009223 |
| T4432 | 142-169 | SpecificDisease | denotes | Duchenne muscular dystrophy | D020388 |
| T4433 | 171-174 | SpecificDisease | denotes | DMD | D020388 |
| T4434 | 230-248 | SpecificDisease | denotes | myotonic dystrophy | D009223 |
| T4435 | 521-548 | SpecificDisease | denotes | Duchenne muscular dystrophy | D020388 |
| T4436 | 561-582 | SpecificDisease | denotes | dystrophin deficiency | OMIM:310200 |
| T4437 | 647-665 | SpecificDisease | denotes | Myotonic dystrophy | D009223 |
| T4438 | 721-739 | SpecificDisease | denotes | Duchenne dystrophy | D020388 |
| T4439 | 910-913 | Modifier | denotes | DMD | D020388 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-27 | SpecificDisease | denotes | Duchenne muscular dystrophy |
| T2 | 32-50 | SpecificDisease | denotes | myotonic dystrophy |
| T3 | 119-169 | CompositeMention | denotes | myotonic dystrophy and Duchenne muscular dystrophy |
| T4 | 171-174 | SpecificDisease | denotes | DMD |
| T5 | 230-248 | SpecificDisease | denotes | myotonic dystrophy |
| T6 | 521-548 | SpecificDisease | denotes | Duchenne muscular dystrophy |
| T7 | 647-665 | SpecificDisease | denotes | Myotonic dystrophy |
| T8 | 721-739 | SpecificDisease | denotes | Duchenne dystrophy |
| T9 | 910-913 | SpecificDisease | denotes | DMD |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 32-50 | SpecificDisease | denotes | myotonic dystrophy |
| T2 | 119-137 | SpecificDisease | denotes | myotonic dystrophy |
| T3 | 142-169 | CompositeMention | denotes | Duchenne muscular dystrophy |
| T4 | 171-174 | Modifier | denotes | DMD |
| T5 | 230-248 | SpecificDisease | denotes | myotonic dystrophy |
| T6 | 521-548 | SpecificDisease | denotes | Duchenne muscular dystrophy |
| T7 | 647-665 | SpecificDisease | denotes | Myotonic dystrophy |
| T8 | 721-739 | Modifier | denotes | Duchenne dystrophy |
| T9 | 910-913 | SpecificDisease | denotes | DMD |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-50 | CompositeMention | denotes | Duchenne muscular dystrophy and myotonic dystrophy |
| T2 | 119-137 | SpecificDisease | denotes | myotonic dystrophy |
| T3 | 142-175 | SpecificDisease | denotes | Duchenne muscular dystrophy (DMD) |
| T4 | 230-248 | SpecificDisease | denotes | myotonic dystrophy |
| T5 | 521-548 | SpecificDisease | denotes | Duchenne muscular dystrophy |
| T6 | 647-665 | SpecificDisease | denotes | Myotonic dystrophy |
| T7 | 721-739 | Modifier | denotes | Duchenne dystrophy |
| T8 | 910-913 | Modifier | denotes | DMD |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-27 | SpecificDisease | denotes | Duchenne muscular dystrophy |
| T2 | 32-50 | SpecificDisease | denotes | myotonic dystrophy |
| T3 | 119-137 | SpecificDisease | denotes | myotonic dystrophy |
| T4 | 142-175 | SpecificDisease | denotes | Duchenne muscular dystrophy (DMD) |
| T5 | 230-248 | SpecificDisease | denotes | myotonic dystrophy |
| T6 | 521-548 | SpecificDisease | denotes | Duchenne muscular dystrophy |
| T7 | 647-665 | SpecificDisease | denotes | Myotonic dystrophy |
| T8 | 721-739 | SpecificDisease | denotes | Duchenne dystrophy |
| T9 | 910-913 | SpecificDisease | denotes | DMD |