PubMed:8375105
Annnotations
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-97 | Sentence | denotes | Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling. |
| TextSentencer_T2 | 98-223 | Sentence | denotes | In this study we describe a three-generation family in which two siblings were affected by Duchenne muscular dystrophy (DMD). |
| TextSentencer_T3 | 224-476 | Sentence | denotes | Immunohistochemical analysis of muscle dystrophin and haplotype analysis of the DMD locus revealed that the X chromosome carrying the DMD gene was transmitted from the healthy maternal grandfather to his three daughters, including the proband's mother. |
| TextSentencer_T4 | 477-561 | Sentence | denotes | These findings indicate that the grandfather was a germinal mosaic for the DMD gene. |
| TextSentencer_T5 | 562-712 | Sentence | denotes | The definition of the carrier status in two possible carriers led us to give accurate genetic counselling and to prevent the birth of an affected boy. |
| TextSentencer_T6 | 713-909 | Sentence | denotes | The results of this study demonstrate the usefulness of haplotype analysis and immunohistochemical muscle dystrophin studies to detect hidden germinal mosaicism and to improve genetic counselling. |
| T1 | 0-97 | Sentence | denotes | Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling. |
| T2 | 98-223 | Sentence | denotes | In this study we describe a three-generation family in which two siblings were affected by Duchenne muscular dystrophy (DMD). |
| T3 | 224-476 | Sentence | denotes | Immunohistochemical analysis of muscle dystrophin and haplotype analysis of the DMD locus revealed that the X chromosome carrying the DMD gene was transmitted from the healthy maternal grandfather to his three daughters, including the proband's mother. |
| T4 | 477-561 | Sentence | denotes | These findings indicate that the grandfather was a germinal mosaic for the DMD gene. |
| T5 | 562-712 | Sentence | denotes | The definition of the carrier status in two possible carriers led us to give accurate genetic counselling and to prevent the birth of an affected boy. |
| T6 | 713-909 | Sentence | denotes | The results of this study demonstrate the usefulness of haplotype analysis and immunohistochemical muscle dystrophin studies to detect hidden germinal mosaicism and to improve genetic counselling. |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 263-273 | gene:1756 | denotes | dystrophin |
| T1 | 304-307 | disease:C0026850 | denotes | DMD |
| T2 | 358-361 | gene:1756 | denotes | DMD |
| T3 | 304-307 | disease:C0026850 | denotes | DMD |
| R1 | T0 | T1 | associated_with | dystrophin,DMD |
| R2 | T2 | T3 | associated_with | DMD,DMD |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 8375105-2#39#49#gene1756 | 263-273 | gene1756 | denotes | dystrophin |
| 8375105-2#134#137#gene1756 | 358-361 | gene1756 | denotes | DMD |
| 8375105-2#80#83#diseaseC0013264 | 304-307 | diseaseC0013264 | denotes | DMD |
| 39#49#gene175680#83#diseaseC0013264 | 8375105-2#39#49#gene1756 | 8375105-2#80#83#diseaseC0013264 | associated_with | dystrophin,DMD |
| 134#137#gene175680#83#diseaseC0013264 | 8375105-2#134#137#gene1756 | 8375105-2#80#83#diseaseC0013264 | associated_with | DMD,DMD |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 33-51 | HP:0003560 | denotes | muscular dystrophy |
| AB1 | 198-216 | HP:0003560 | denotes | muscular dystrophy |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 24-51 | ORDO:98896 | denotes | Duchenne muscular dystrophy |
| AB1 | 189-216 | ORDO:98896 | denotes | Duchenne muscular dystrophy |
| AB2 | 218-221 | ORDO:98896 | denotes | DMD |
| AB3 | 304-307 | ORDO:98896 | denotes | DMD |
| AB4 | 358-361 | ORDO:98896 | denotes | DMD |
| AB5 | 552-555 | ORDO:98896 | denotes | DMD |
NCBIDiseaseCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 24-51 | Modifier:D020388 | denotes | Duchenne muscular dystrophy |
| T2 | 189-216 | SpecificDisease:D020388 | denotes | Duchenne muscular dystrophy |
| T3 | 218-221 | SpecificDisease:D020388 | denotes | DMD |
| T4 | 304-307 | Modifier:D020388 | denotes | DMD |
| T5 | 358-361 | Modifier:D020388 | denotes | DMD |
| T6 | 552-555 | Modifier:D020388 | denotes | DMD |
NCBI-Disease-Train
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T3651 | 24-51 | Modifier | denotes | Duchenne muscular dystrophy | D020388 |
| T3652 | 189-216 | SpecificDisease | denotes | Duchenne muscular dystrophy | D020388 |
| T3653 | 218-221 | SpecificDisease | denotes | DMD | D020388 |
| T3654 | 304-307 | Modifier | denotes | DMD | D020388 |
| T3655 | 358-361 | Modifier | denotes | DMD | D020388 |
| T3656 | 552-555 | Modifier | denotes | DMD | D020388 |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T3651 | 24-51 | Modifier | denotes | Duchenne muscular dystrophy | D020388 |
| T3652 | 189-216 | SpecificDisease | denotes | Duchenne muscular dystrophy | D020388 |
| T3653 | 218-221 | SpecificDisease | denotes | DMD | D020388 |
| T3654 | 304-307 | Modifier | denotes | DMD | D020388 |
| T3655 | 358-361 | Modifier | denotes | DMD | D020388 |
| T3656 | 552-555 | Modifier | denotes | DMD | D020388 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 24-51 | SpecificDisease | denotes | Duchenne muscular dystrophy |
| T2 | 189-216 | SpecificDisease | denotes | Duchenne muscular dystrophy |
| T3 | 218-221 | SpecificDisease | denotes | DMD |
| T4 | 304-307 | Modifier | denotes | DMD |
| T5 | 358-361 | Modifier | denotes | DMD |
| T6 | 552-555 | Modifier | denotes | DMD |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 24-51 | SpecificDisease | denotes | Duchenne muscular dystrophy |
| T2 | 189-216 | SpecificDisease | denotes | Duchenne muscular dystrophy |
| T3 | 218-221 | SpecificDisease | denotes | DMD |
| T4 | 304-307 | Modifier | denotes | DMD |
| T5 | 358-361 | Modifier | denotes | DMD |
| T6 | 552-555 | Modifier | denotes | DMD |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 24-51 | SpecificDisease | denotes | Duchenne muscular dystrophy |
| T2 | 189-216 | SpecificDisease | denotes | Duchenne muscular dystrophy |
| T3 | 218-221 | SpecificDisease | denotes | DMD |
| T4 | 304-307 | SpecificDisease | denotes | DMD |
| T5 | 358-361 | SpecificDisease | denotes | DMD |
| T6 | 552-555 | SpecificDisease | denotes | DMD |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 24-51 | SpecificDisease | denotes | Duchenne muscular dystrophy |
| T2 | 189-222 | SpecificDisease | denotes | Duchenne muscular dystrophy (DMD) |
| T3 | 263-273 | Modifier | denotes | dystrophin |
| T4 | 304-307 | SpecificDisease | denotes | DMD |
| T5 | 358-361 | SpecificDisease | denotes | DMD |
| T6 | 552-555 | SpecificDisease | denotes | DMD |
| T7 | 819-829 | Modifier | denotes | dystrophin |