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PubMed:8104633 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-104 Sentence denotes An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy.
TextSentencer_T2 105-254 Sentence denotes Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder caused by a deficiency of arylsulfatase A (ARSA; EC 3.1.6.8).
TextSentencer_T3 255-442 Sentence denotes The 8 ARSA exons and adjacent intron boundaries from a patient with late-infantile metachromatic leukodystrophy were polymerase chain reaction (PCR) amplified in seven discrete reactions.
TextSentencer_T4 443-618 Sentence denotes Amplified ARSA exons were analysed for the presence of sequence alterations by single-strand conformation polymorphism analysis, followed by direct sequencing of PCR products.
TextSentencer_T5 619-809 Sentence denotes The patient was found to be homozygous for a C-->T transition in exon IV that results in the substitution of a highly conserved threonine residue at amino acid 274 with a methionine (T274M).
TextSentencer_T6 810-911 Sentence denotes Analysis of a further 29 MLD patients revealed the presence of five additional homozygotes for T274M.
TextSentencer_T7 912-1055 Sentence denotes All 6 T274M homozygotes (representing four families) were of Lebanese descent, and all were known to be the result of consanguineous marriages.
TextSentencer_T8 1056-1255 Sentence denotes The altered amino acid is rigidly conserved among 10 sulfatases from Escherichia coli to humans; therefore, it is most likely that the resultant mutant protein will have little or no enzyme activity.
TextSentencer_T9 1256-1383 Sentence denotes This is consistent with the very low ARSA activity measured in these patients and their uniformly severe clinical presentation.
T1 0-104 Sentence denotes An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy.
T2 105-254 Sentence denotes Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder caused by a deficiency of arylsulfatase A (ARSA; EC 3.1.6.8).
T3 255-442 Sentence denotes The 8 ARSA exons and adjacent intron boundaries from a patient with late-infantile metachromatic leukodystrophy were polymerase chain reaction (PCR) amplified in seven discrete reactions.
T4 443-618 Sentence denotes Amplified ARSA exons were analysed for the presence of sequence alterations by single-strand conformation polymorphism analysis, followed by direct sequencing of PCR products.
T5 619-809 Sentence denotes The patient was found to be homozygous for a C-->T transition in exon IV that results in the substitution of a highly conserved threonine residue at amino acid 274 with a methionine (T274M).
T6 810-911 Sentence denotes Analysis of a further 29 MLD patients revealed the presence of five additional homozygotes for T274M.
T7 912-1055 Sentence denotes All 6 T274M homozygotes (representing four families) were of Lebanese descent, and all were known to be the result of consanguineous marriages.
T8 1056-1255 Sentence denotes The altered amino acid is rigidly conserved among 10 sulfatases from Escherichia coli to humans; therefore, it is most likely that the resultant mutant protein will have little or no enzyme activity.
T9 1256-1383 Sentence denotes This is consistent with the very low ARSA activity measured in these patients and their uniformly severe clinical presentation.

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
8104633-0#3#18#gene410 3-18 gene410 denotes arylsulfatase A
8104633-0#20#24#gene410 20-24 gene410 denotes ARSA
8104633-0#60#103#diseaseC0751278 60-103 diseaseC0751278 denotes late-infantile metachromatic leukodystrophy
8104633-1#114#129#gene410 219-234 gene410 denotes arylsulfatase A
8104633-1#131#135#gene410 236-240 gene410 denotes ARSA
8104633-1#0#28#diseaseC0023522 105-133 diseaseC0023522 denotes Metachromatic leukodystrophy
3#18#gene41060#103#diseaseC0751278 8104633-0#3#18#gene410 8104633-0#60#103#diseaseC0751278 associated_with arylsulfatase A,late-infantile metachromatic leukodystrophy
20#24#gene41060#103#diseaseC0751278 8104633-0#20#24#gene410 8104633-0#60#103#diseaseC0751278 associated_with ARSA,late-infantile metachromatic leukodystrophy
114#129#gene4100#28#diseaseC0023522 8104633-1#114#129#gene410 8104633-1#0#28#diseaseC0023522 associated_with arylsulfatase A,Metachromatic leukodystrophy
131#135#gene4100#28#diseaseC0023522 8104633-1#131#135#gene410 8104633-1#0#28#diseaseC0023522 associated_with ARSA,Metachromatic leukodystrophy

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 119-133 HP:0002415 denotes leukodystrophy
TI1 89-103 HP:0002415 denotes leukodystrophy
AB2 352-366 HP:0002415 denotes leukodystrophy

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 105-133 ORDO:512 denotes Metachromatic leukodystrophy
AB2 135-138 ORDO:512 denotes MLD
TI1 75-103 ORDO:512 denotes metachromatic leukodystrophy
AB3 338-366 ORDO:512 denotes metachromatic leukodystrophy
AB4 835-838 ORDO:512 denotes MLD

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 60-103 SpecificDisease:D007966 denotes late-infantile metachromatic leukodystrophy
T2 105-133 SpecificDisease:D007966 denotes Metachromatic leukodystrophy
T3 135-138 SpecificDisease:D007966 denotes MLD
T4 146-192 DiseaseClass:D016464 denotes autosomal recessive lysosomal storage disorder
T5 205-234 SpecificDisease:D007966 denotes deficiency of arylsulfatase A
T6 323-366 SpecificDisease:D007966 denotes late-infantile metachromatic leukodystrophy
T7 835-838 Modifier:D007966 denotes MLD

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T4161 60-103 SpecificDisease denotes late-infantile metachromatic leukodystrophy D007966
T4162 105-133 SpecificDisease denotes Metachromatic leukodystrophy D007966
T4163 135-138 SpecificDisease denotes MLD D007966
T4164 146-192 DiseaseClass denotes autosomal recessive lysosomal storage disorder D016464
T4165 205-234 SpecificDisease denotes deficiency of arylsulfatase A D007966
T4166 323-366 SpecificDisease denotes late-infantile metachromatic leukodystrophy D007966
T4167 835-838 Modifier denotes MLD D007966

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T4161 60-103 SpecificDisease denotes late-infantile metachromatic leukodystrophy D007966
T4162 105-133 SpecificDisease denotes Metachromatic leukodystrophy D007966
T4163 135-138 SpecificDisease denotes MLD D007966
T4164 146-192 DiseaseClass denotes autosomal recessive lysosomal storage disorder D016464
T4165 205-234 SpecificDisease denotes deficiency of arylsulfatase A D007966
T4166 323-366 SpecificDisease denotes late-infantile metachromatic leukodystrophy D007966
T4167 835-838 Modifier denotes MLD D007966

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 60-103 SpecificDisease denotes late-infantile metachromatic leukodystrophy
T2 105-133 SpecificDisease denotes Metachromatic leukodystrophy
T3 323-366 SpecificDisease denotes late-infantile metachromatic leukodystrophy
T4 835-838 SpecificDisease denotes MLD

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 60-103 SpecificDisease denotes late-infantile metachromatic leukodystrophy
T2 105-133 SpecificDisease denotes Metachromatic leukodystrophy
T3 135-138 SpecificDisease denotes MLD
T4 323-366 SpecificDisease denotes late-infantile metachromatic leukodystrophy
T5 835-838 SpecificDisease denotes MLD

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 60-103 SpecificDisease denotes late-infantile metachromatic leukodystrophy
T2 105-133 SpecificDisease denotes Metachromatic leukodystrophy
T3 323-366 SpecificDisease denotes late-infantile metachromatic leukodystrophy
T4 835-838 Modifier denotes MLD

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 60-103 SpecificDisease denotes late-infantile metachromatic leukodystrophy
T2 105-139 SpecificDisease denotes Metachromatic leukodystrophy (MLD)
T3 323-366 SpecificDisease denotes late-infantile metachromatic leukodystrophy