PubMed:7802009
Annnotations
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-160 | Sentence | denotes | Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation. |
| TextSentencer_T2 | 161-520 | Sentence | denotes | A pair of female monozygotic (MZ) twins, heterozygous carriers for a deletion in the DMD gene and discordant for the clinical manifestations of Duchenne muscular dystrophy, were analyzed by molecular studies, in situ hybridization, and methylation pattern of X chromosomes to search for opposite X inactivation as an explanation of their clinical discordance. |
| TextSentencer_T3 | 521-769 | Sentence | denotes | Results in lymphocytes and skin fibroblast cell lines suggest a partial mirror inactivation with the normal X chromosome preferentially active in the unaffected twin, and the maternal deleted X chromosome preferentially active in the affected twin. |
| TextSentencer_T4 | 770-856 | Sentence | denotes | A review shows that MZ female twins discordant for X-linked diseases are not uncommon. |
| TextSentencer_T5 | 857-971 | Sentence | denotes | Twinning and X inactivation may be interrelated and could explain the female twins discordant for X-linked traits. |
| T1 | 0-160 | Sentence | denotes | Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation. |
| T2 | 161-520 | Sentence | denotes | A pair of female monozygotic (MZ) twins, heterozygous carriers for a deletion in the DMD gene and discordant for the clinical manifestations of Duchenne muscular dystrophy, were analyzed by molecular studies, in situ hybridization, and methylation pattern of X chromosomes to search for opposite X inactivation as an explanation of their clinical discordance. |
| T3 | 521-769 | Sentence | denotes | Results in lymphocytes and skin fibroblast cell lines suggest a partial mirror inactivation with the normal X chromosome preferentially active in the unaffected twin, and the maternal deleted X chromosome preferentially active in the affected twin. |
| T4 | 770-856 | Sentence | denotes | A review shows that MZ female twins discordant for X-linked diseases are not uncommon. |
| T5 | 857-971 | Sentence | denotes | Twinning and X inactivation may be interrelated and could explain the female twins discordant for X-linked traits. |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 246-249 | gene:1756 | denotes | DMD |
| T1 | 305-332 | disease:C0013264 | denotes | Duchenne muscular dystrophy |
| R1 | T0 | T1 | associated_with | DMD,Duchenne muscular dystrophy |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 7802009-1#85#88#gene1756 | 246-249 | gene1756 | denotes | DMD |
| 7802009-1#144#171#diseaseC0013264 | 305-332 | diseaseC0013264 | denotes | Duchenne muscular dystrophy |
| 85#88#gene1756144#171#diseaseC0013264 | 7802009-1#85#88#gene1756 | 7802009-1#144#171#diseaseC0013264 | associated_with | DMD,Duchenne muscular dystrophy |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 99-117 | HP:0003560 | denotes | muscular dystrophy |
| AB1 | 314-332 | HP:0003560 | denotes | muscular dystrophy |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 246-249 | ORDO:98896 | denotes | DMD |
| TI1 | 90-117 | ORDO:98896 | denotes | Duchenne muscular dystrophy |
| AB2 | 305-332 | ORDO:98896 | denotes | Duchenne muscular dystrophy |
NCBIDiseaseCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 90-117 | SpecificDisease:D020388 | denotes | Duchenne muscular dystrophy |
| T2 | 246-249 | Modifier:D020388 | denotes | DMD |
| T3 | 305-332 | SpecificDisease:D020388 | denotes | Duchenne muscular dystrophy |
| T4 | 821-838 | DiseaseClass:D040181 | denotes | X-linked diseases |
NCBI-Disease-Train
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T4591 | 90-117 | SpecificDisease | denotes | Duchenne muscular dystrophy | D020388 |
| T4592 | 246-249 | Modifier | denotes | DMD | D020388 |
| T4593 | 305-332 | SpecificDisease | denotes | Duchenne muscular dystrophy | D020388 |
| T4594 | 821-838 | DiseaseClass | denotes | X-linked diseases | D040181 |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T4591 | 90-117 | SpecificDisease | denotes | Duchenne muscular dystrophy | D020388 |
| T4592 | 246-249 | Modifier | denotes | DMD | D020388 |
| T4593 | 305-332 | SpecificDisease | denotes | Duchenne muscular dystrophy | D020388 |
| T4594 | 821-838 | DiseaseClass | denotes | X-linked diseases | D040181 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 90-117 | SpecificDisease | denotes | Duchenne muscular dystrophy |
| T2 | 305-332 | SpecificDisease | denotes | Duchenne muscular dystrophy |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 90-117 | SpecificDisease | denotes | Duchenne muscular dystrophy |
| T2 | 305-332 | SpecificDisease | denotes | Duchenne muscular dystrophy |
| T3 | 821-838 | DiseaseClass | denotes | X-linked diseases |
| T4 | 955-970 | DiseaseClass | denotes | X-linked traits |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 90-117 | SpecificDisease | denotes | Duchenne muscular dystrophy |
| T2 | 305-332 | SpecificDisease | denotes | Duchenne muscular dystrophy |
| T3 | 821-838 | Modifier | denotes | X-linked diseases |
| T4 | 955-970 | Modifier | denotes | X-linked traits |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 90-117 | SpecificDisease | denotes | Duchenne muscular dystrophy |
| T2 | 305-332 | SpecificDisease | denotes | Duchenne muscular dystrophy |
| T3 | 821-838 | DiseaseClass | denotes | X-linked diseases |
| T4 | 955-970 | DiseaseClass | denotes | X-linked traits |