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PubMed:10827108 JSONTXT

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PMID_GLOBAL

Id Subject Object Predicate Lexical cue mondo_id
T1 58-86 DiseaseOrPhenotypicFeature denotes Pelizaeus-Merzbacher disease 0010714
T2 275-303 DiseaseOrPhenotypicFeature denotes Pelizaeus-Merzbacher disease 0010714
T3 305-308 DiseaseOrPhenotypicFeature denotes PMD 0010714
T4 374-377 DiseaseOrPhenotypicFeature denotes PMD 0010714
T5 893-896 DiseaseOrPhenotypicFeature denotes PMD 0010714
T6 940-949 DiseaseOrPhenotypicFeature denotes inversion 0043678
T7 978-981 DiseaseOrPhenotypicFeature denotes inv 0043678
T8 1446-1463 DiseaseOrPhenotypicFeature denotes genetic disorders 0003847

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-139 Sentence denotes Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.
TextSentencer_T2 140-214 Sentence denotes The proteolipid protein gene (PLP) is normally present at chromosome Xq22.
TextSentencer_T3 215-310 Sentence denotes Mutations and duplications of this gene are associated with Pelizaeus-Merzbacher disease (PMD).
TextSentencer_T4 311-486 Sentence denotes Here we describe two new families in which males affected with PMD were found to have a copy of PLP on the short arm of the X chromosome, in addition to a normal copy on Xq22.
TextSentencer_T5 487-620 Sentence denotes In the first family, the extra copy was first detected by the presence of heterozygosity of the AhaII dimorphism within the PLP gene.
TextSentencer_T6 621-782 Sentence denotes The results of FISH analysis showed an additional copy of PLP in Xp22.1, although no chromosomal rearrangements could be detected by standard karyotype analysis.
TextSentencer_T7 783-849 Sentence denotes Another three affected males from the family had similar findings.
TextSentencer_T8 850-970 Sentence denotes In a second unrelated family with signs of PMD, cytogenetic analysis showed a pericentric inversion of the X chromosome.
TextSentencer_T9 971-1072 Sentence denotes In the inv(X) carried by several affected family members, FISH showed PLP signals at Xp11.4 and Xq22.
TextSentencer_T10 1073-1252 Sentence denotes A third family has previously been reported, in which affected members had an extra copy of the PLP gene detected at Xq26 in a chromosome with an otherwise normal banding pattern.
TextSentencer_T11 1253-1464 Sentence denotes The identification of three separate families in which PLP is duplicated at a noncontiguous site suggests that such duplications could be a relatively common but previously undetected cause of genetic disorders.
T1 0-139 Sentence denotes Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.
T2 140-214 Sentence denotes The proteolipid protein gene (PLP) is normally present at chromosome Xq22.
T3 215-310 Sentence denotes Mutations and duplications of this gene are associated with Pelizaeus-Merzbacher disease (PMD).
T4 311-486 Sentence denotes Here we describe two new families in which males affected with PMD were found to have a copy of PLP on the short arm of the X chromosome, in addition to a normal copy on Xq22.
T5 487-620 Sentence denotes In the first family, the extra copy was first detected by the presence of heterozygosity of the AhaII dimorphism within the PLP gene.
T6 621-782 Sentence denotes The results of FISH analysis showed an additional copy of PLP in Xp22.1, although no chromosomal rearrangements could be detected by standard karyotype analysis.
T7 783-849 Sentence denotes Another three affected males from the family had similar findings.
T8 850-970 Sentence denotes In a second unrelated family with signs of PMD, cytogenetic analysis showed a pericentric inversion of the X chromosome.
T9 971-1072 Sentence denotes In the inv(X) carried by several affected family members, FISH showed PLP signals at Xp11.4 and Xq22.
T10 1073-1252 Sentence denotes A third family has previously been reported, in which affected members had an extra copy of the PLP gene detected at Xq26 in a chromosome with an otherwise normal banding pattern.
T11 1253-1464 Sentence denotes The identification of three separate families in which PLP is duplicated at a noncontiguous site suggests that such duplications could be a relatively common but previously undetected cause of genetic disorders.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 229-241 HP_0009609 denotes duplications
T2 418-427 HP_0009824 denotes short arm
T3 1315-1325 HP_0009609 denotes duplicated
T4 1369-1381 HP_0009609 denotes duplications

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 58-86 ORDO:702 denotes Pelizaeus-Merzbacher disease
AB1 275-303 ORDO:702 denotes Pelizaeus-Merzbacher disease
AB2 305-308 ORDO:702 denotes PMD
AB3 374-377 ORDO:702 denotes PMD
AB4 893-896 ORDO:702 denotes PMD

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 424-427 http://purl.obolibrary.org/obo/UBERON_0001460 denotes arm

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 424-427 http://purl.obolibrary.org/obo/UBERON_0001460 denotes arm

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 58-86 SpecificDisease:OMIM:312080 denotes Pelizaeus-Merzbacher disease
T2 275-303 SpecificDisease:OMIM:312080 denotes Pelizaeus-Merzbacher disease
T3 305-308 SpecificDisease:OMIM:312080 denotes PMD
T4 374-377 SpecificDisease:OMIM:312080 denotes PMD
T5 893-896 SpecificDisease:OMIM:312080 denotes PMD
T6 1446-1463 DiseaseClass:D030342 denotes genetic disorders

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T410 58-86 SpecificDisease denotes Pelizaeus-Merzbacher disease OMIM:312080
T411 275-303 SpecificDisease denotes Pelizaeus-Merzbacher disease OMIM:312080
T412 305-308 SpecificDisease denotes PMD OMIM:312080
T413 374-377 SpecificDisease denotes PMD OMIM:312080
T414 893-896 SpecificDisease denotes PMD OMIM:312080
T415 1446-1463 DiseaseClass denotes genetic disorders D030342

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T410 58-86 SpecificDisease denotes Pelizaeus-Merzbacher disease OMIM:312080
T411 275-303 SpecificDisease denotes Pelizaeus-Merzbacher disease OMIM:312080
T412 305-308 SpecificDisease denotes PMD OMIM:312080
T413 374-377 SpecificDisease denotes PMD OMIM:312080
T414 893-896 SpecificDisease denotes PMD OMIM:312080
T415 1446-1463 DiseaseClass denotes genetic disorders D030342

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 58-86 SpecificDisease denotes Pelizaeus-Merzbacher disease
T2 275-303 SpecificDisease denotes Pelizaeus-Merzbacher disease
T3 305-308 SpecificDisease denotes PMD
T4 374-377 SpecificDisease denotes PMD
T5 893-896 SpecificDisease denotes PMD

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 58-86 SpecificDisease denotes Pelizaeus-Merzbacher disease
T2 275-303 SpecificDisease denotes Pelizaeus-Merzbacher disease
T3 305-308 SpecificDisease denotes PMD
T4 374-377 SpecificDisease denotes PMD
T5 893-896 SpecificDisease denotes PMD

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 58-86 SpecificDisease denotes Pelizaeus-Merzbacher disease
T2 275-303 SpecificDisease denotes Pelizaeus-Merzbacher disease
T3 305-308 SpecificDisease denotes PMD
T4 374-377 SpecificDisease denotes PMD
T5 893-896 SpecificDisease denotes PMD

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 58-86 SpecificDisease denotes Pelizaeus-Merzbacher disease
T2 275-309 SpecificDisease denotes Pelizaeus-Merzbacher disease (PMD)
T3 374-377 SpecificDisease denotes PMD
T4 893-896 SpecificDisease denotes PMD