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PubMed:1376553 JSONTXT

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PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 77-105 ORDO:702 denotes Pelizaeus-Merzbacher disease
AB1 241-269 ORDO:702 denotes Pelizaeus-merzbacher disease
AB2 271-274 ORDO:702 denotes PMD
AB3 735-738 ORDO:702 denotes PMD

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-106 Sentence denotes New variant in exon 3 of the proteolipid protein (PLP) gene in a family with Pelizaeus-Merzbacher disease.
TextSentencer_T2 107-276 Sentence denotes A C--greater than G transversion has been found in exon 3 of the PLP gene of affected males and their mother in a single sibship with Pelizaeus-merzbacher disease (PMD).
TextSentencer_T3 277-433 Sentence denotes The transversion should not result in an amino acid change in the protein but it does result in the loss of a HaeIII restriction endonuclease cleavage site.
TextSentencer_T4 434-483 Sentence denotes It is concordant with the disease in this family.
TextSentencer_T5 484-555 Sentence denotes One-hundred-ten unrelated X chromosomes are negative for this mutation.
TextSentencer_T6 556-630 Sentence denotes No other sequence defect was found in the PLP exons of the affected males.
TextSentencer_T7 631-753 Sentence denotes The cause of disease in this family remains unknown, but the association between this rare mutation and PMD is intriguing.
TextSentencer_T8 754-831 Sentence denotes The mutation can serve as a marker for following segregation of the PLP gene.
T1 0-106 Sentence denotes New variant in exon 3 of the proteolipid protein (PLP) gene in a family with Pelizaeus-Merzbacher disease.
T2 107-276 Sentence denotes A C--greater than G transversion has been found in exon 3 of the PLP gene of affected males and their mother in a single sibship with Pelizaeus-merzbacher disease (PMD).
T3 277-433 Sentence denotes The transversion should not result in an amino acid change in the protein but it does result in the loss of a HaeIII restriction endonuclease cleavage site.
T4 434-483 Sentence denotes It is concordant with the disease in this family.
T5 484-555 Sentence denotes One-hundred-ten unrelated X chromosomes are negative for this mutation.
T6 556-630 Sentence denotes No other sequence defect was found in the PLP exons of the affected males.
T7 631-753 Sentence denotes The cause of disease in this family remains unknown, but the association between this rare mutation and PMD is intriguing.
T8 754-831 Sentence denotes The mutation can serve as a marker for following segregation of the PLP gene.

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 77-105 SpecificDisease:OMIM:312080 denotes Pelizaeus-Merzbacher disease
T2 241-269 SpecificDisease:OMIM:312080 denotes Pelizaeus-merzbacher disease
T3 271-274 SpecificDisease:OMIM:312080 denotes PMD
T4 735-738 SpecificDisease:OMIM:312080 denotes PMD

DisGeNET

Id Subject Object Predicate Lexical cue
T0 50-53 gene:25824 denotes PLP
T1 77-105 disease:C0205711 denotes Pelizaeus-Merzbacher disease
T2 50-53 gene:5354 denotes PLP
T3 77-105 disease:C0205711 denotes Pelizaeus-Merzbacher disease
T4 50-53 gene:5744 denotes PLP
T5 77-105 disease:C0205711 denotes Pelizaeus-Merzbacher disease
T6 50-53 gene:57026 denotes PLP
T7 77-105 disease:C0205711 denotes Pelizaeus-Merzbacher disease
T8 172-175 gene:5744 denotes PLP
T9 241-269 disease:C0205711 denotes Pelizaeus-merzbacher disease
T10 172-175 gene:5354 denotes PLP
T11 241-269 disease:C0205711 denotes Pelizaeus-merzbacher disease
T12 172-175 gene:25824 denotes PLP
T13 241-269 disease:C0205711 denotes Pelizaeus-merzbacher disease
T14 172-175 gene:57026 denotes PLP
T15 241-269 disease:C0205711 denotes Pelizaeus-merzbacher disease
T16 172-175 gene:25824 denotes PLP
T17 271-274 disease:C0205711 denotes PMD
T18 172-175 gene:5354 denotes PLP
T19 271-274 disease:C0205711 denotes PMD
T20 172-175 gene:5744 denotes PLP
T21 271-274 disease:C0205711 denotes PMD
T22 172-175 gene:57026 denotes PLP
T23 271-274 disease:C0205711 denotes PMD
R1 T0 T1 associated_with PLP,Pelizaeus-Merzbacher disease
R2 T2 T3 associated_with PLP,Pelizaeus-Merzbacher disease
R3 T4 T5 associated_with PLP,Pelizaeus-Merzbacher disease
R4 T6 T7 associated_with PLP,Pelizaeus-Merzbacher disease
R5 T8 T9 associated_with PLP,Pelizaeus-merzbacher disease
R6 T10 T11 associated_with PLP,Pelizaeus-merzbacher disease
R7 T12 T13 associated_with PLP,Pelizaeus-merzbacher disease
R8 T14 T15 associated_with PLP,Pelizaeus-merzbacher disease
R9 T16 T17 associated_with PLP,PMD
R10 T18 T19 associated_with PLP,PMD
R11 T20 T21 associated_with PLP,PMD
R12 T22 T23 associated_with PLP,PMD

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T2511 77-105 SpecificDisease denotes Pelizaeus-Merzbacher disease OMIM:312080
T2512 241-269 SpecificDisease denotes Pelizaeus-merzbacher disease OMIM:312080
T2513 271-274 SpecificDisease denotes PMD OMIM:312080
T2514 735-738 SpecificDisease denotes PMD OMIM:312080

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T2511 77-105 SpecificDisease denotes Pelizaeus-Merzbacher disease OMIM:312080
T2512 241-269 SpecificDisease denotes Pelizaeus-merzbacher disease OMIM:312080
T2513 271-274 SpecificDisease denotes PMD OMIM:312080
T2514 735-738 SpecificDisease denotes PMD OMIM:312080

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 77-105 SpecificDisease denotes Pelizaeus-Merzbacher disease
T2 241-269 SpecificDisease denotes Pelizaeus-merzbacher disease
T3 271-274 SpecificDisease denotes PMD
T4 644-651 DiseaseClass denotes disease
T5 735-738 SpecificDisease denotes PMD

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 77-105 SpecificDisease denotes Pelizaeus-Merzbacher disease
T2 241-269 SpecificDisease denotes Pelizaeus-merzbacher disease
T3 271-274 SpecificDisease denotes PMD
T4 644-651 DiseaseClass denotes disease
T5 735-738 SpecificDisease denotes PMD

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 77-105 SpecificDisease denotes Pelizaeus-Merzbacher disease
T2 241-269 SpecificDisease denotes Pelizaeus-merzbacher disease
T3 271-274 SpecificDisease denotes PMD
T4 460-467 Modifier denotes disease
T5 644-651 Modifier denotes disease
T6 735-738 SpecificDisease denotes PMD

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 77-105 SpecificDisease denotes Pelizaeus-Merzbacher disease
T2 241-275 SpecificDisease denotes Pelizaeus-merzbacher disease (PMD)
T3 460-467 SpecificDisease denotes disease
T4 644-651 SpecificDisease denotes disease
T5 735-738 SpecificDisease denotes PMD