PubMed:1353340
Annnotations
LitCoin-entities
| Id | Subject | Object | Predicate | Lexical cue | db_id |
|---|---|---|---|---|---|
| 0 | 11-39 | DiseaseOrPhenotypicFeature | denotes | metachromatic leukodystrophy | MESH:D007966 |
| 1 | 111-126 | GeneOrGeneProduct | denotes | arylsulfatase A | NCBIGene:410 |
| 2 | 128-132 | GeneOrGeneProduct | denotes | ARSA | NCBIGene:410 |
| 3 | 159-187 | DiseaseOrPhenotypicFeature | denotes | metachromatic leukodystrophy | MESH:D007966 |
| 4 | 189-192 | DiseaseOrPhenotypicFeature | denotes | MLD | MESH:D007966 |
| 5 | 210-220 | SequenceVariant | denotes | arginine84 | DBSNP:rs74315458 |
| 6 | 264-277 | GeneOrGeneProduct | denotes | arylsulfatase | NCBIGene:410 |
| 7 | 363-366 | DiseaseOrPhenotypicFeature | denotes | MLD | MESH:D007966 |
| 8 | 372-395 | SequenceVariant | denotes | arginine84 to glutamine | DBSNP:rs74315458 |
| 9 | 442-446 | GeneOrGeneProduct | denotes | ARSA | NCBIGene:410 |
| 10 | 484-488 | GeneOrGeneProduct | denotes | ARSA | NCBIGene:410 |
| 11 | 562-570 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
| 12 | 576-579 | DiseaseOrPhenotypicFeature | denotes | MLD | MESH:D007966 |
| 13 | 655-659 | GeneOrGeneProduct | denotes | ARSA | NCBIGene:410 |
| 14 | 712-715 | DiseaseOrPhenotypicFeature | denotes | MLD | MESH:D007966 |
LitCoin-sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-77 | Sentence | denotes | Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. |
| T2 | 78-194 | Sentence | denotes | We report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). |
| T3 | 195-316 | Sentence | denotes | In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. |
| T4 | 317-456 | Sentence | denotes | In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity. |
| T5 | 457-716 | Sentence | denotes | A comparison of genotypes, ARSA activities, and clinical data on 4 individuals carrying the allele of 81 patients with MLD examined, further validates the concept that different degrees of residual ARSA activity are the basis of phenotypical variation in MLD. |
LitCoin_Mondo
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 11-39 | DiseaseOrPhenotypicFeature | denotes | metachromatic leukodystrophy | 0018868 |
| T2 | 25-39 | DiseaseOrPhenotypicFeature | denotes | leukodystrophy | 0019046 |
| T3 | 159-187 | DiseaseOrPhenotypicFeature | denotes | metachromatic leukodystrophy | 0018868 |
| T4 | 173-187 | DiseaseOrPhenotypicFeature | denotes | leukodystrophy | 0019046 |
LitCoin-GeneOrGeneProduct-v0
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-4 | GeneOrGeneProduct | denotes | Late |
| T2 | 111-126 | GeneOrGeneProduct | denotes | arylsulfatase A |
| T3 | 128-132 | GeneOrGeneProduct | denotes | ARSA |
| T4 | 148-152 | GeneOrGeneProduct | denotes | late |
| T5 | 240-246 | GeneOrGeneProduct | denotes | highly |
| T6 | 247-256 | GeneOrGeneProduct | denotes | conserved |
| T7 | 264-277 | GeneOrGeneProduct | denotes | arylsulfatase |
| T8 | 306-315 | GeneOrGeneProduct | denotes | glutamine |
| T9 | 320-328 | GeneOrGeneProduct | denotes | contrast |
| T10 | 351-356 | GeneOrGeneProduct | denotes | early |
| T11 | 386-395 | GeneOrGeneProduct | denotes | glutamine |
| T12 | 442-446 | GeneOrGeneProduct | denotes | ARSA |
| T13 | 447-455 | GeneOrGeneProduct | denotes | activity |
| T14 | 484-488 | GeneOrGeneProduct | denotes | ARSA |
| T15 | 489-499 | GeneOrGeneProduct | denotes | activities |
| T16 | 612-619 | GeneOrGeneProduct | denotes | concept |
| T17 | 655-659 | GeneOrGeneProduct | denotes | ARSA |
| T18 | 660-668 | GeneOrGeneProduct | denotes | activity |
| T19 | 677-682 | GeneOrGeneProduct | denotes | basis |
LitCoin-GeneOrGeneProduct-v2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 111-126 | GeneOrGeneProduct | denotes | arylsulfatase A |
| T2 | 128-132 | GeneOrGeneProduct | denotes | ARSA |
| T3 | 247-256 | GeneOrGeneProduct | denotes | conserved |
| T4 | 264-277 | GeneOrGeneProduct | denotes | arylsulfatase |
| T5 | 306-315 | GeneOrGeneProduct | denotes | glutamine |
| T6 | 351-356 | GeneOrGeneProduct | denotes | early |
| T7 | 386-395 | GeneOrGeneProduct | denotes | glutamine |
| T8 | 442-446 | GeneOrGeneProduct | denotes | ARSA |
| T9 | 484-488 | GeneOrGeneProduct | denotes | ARSA |
| T10 | 655-659 | GeneOrGeneProduct | denotes | ARSA |
LitCoin-Disease-MeSH
| Id | Subject | Object | Predicate | Lexical cue | originalLabel |
|---|---|---|---|---|---|
| T1 | 11-39 | DiseaseOrPhenotypicFeature | denotes | metachromatic leukodystrophy | D007966 |
| T2 | 159-187 | DiseaseOrPhenotypicFeature | denotes | metachromatic leukodystrophy | D007966 |
| T3 | 189-192 | DiseaseOrPhenotypicFeature | denotes | MLD | D007966 |
| T4 | 363-366 | DiseaseOrPhenotypicFeature | denotes | MLD | D007966 |
| T5 | 576-579 | DiseaseOrPhenotypicFeature | denotes | MLD | D007966 |
| T6 | 712-715 | DiseaseOrPhenotypicFeature | denotes | MLD | D007966 |
LitCoin-GeneOrGeneProduct-v3
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 111-126 | GeneOrGeneProduct | denotes | arylsulfatase A |
| T2 | 128-132 | GeneOrGeneProduct | denotes | ARSA |
| T3 | 264-277 | GeneOrGeneProduct | denotes | arylsulfatase |
| T4 | 442-446 | GeneOrGeneProduct | denotes | ARSA |
| T5 | 484-488 | GeneOrGeneProduct | denotes | ARSA |
| T6 | 655-659 | GeneOrGeneProduct | denotes | ARSA |
LitCoin_Mondo_095
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 11-39 | DiseaseOrPhenotypicFeature | denotes | metachromatic leukodystrophy | 0018868|0009591 |
| T3 | 128-132 | DiseaseOrPhenotypicFeature | denotes | ARSA | 0016828 |
| T4 | 159-187 | DiseaseOrPhenotypicFeature | denotes | metachromatic leukodystrophy | 0018868|0009591 |
| T6 | 189-192 | DiseaseOrPhenotypicFeature | denotes | MLD | 0018868|0009591 |
| T8 | 363-366 | DiseaseOrPhenotypicFeature | denotes | MLD | 0018868|0009591 |
| T10 | 442-446 | DiseaseOrPhenotypicFeature | denotes | ARSA | 0016828 |
| T11 | 484-488 | DiseaseOrPhenotypicFeature | denotes | ARSA | 0016828 |
| T12 | 576-579 | DiseaseOrPhenotypicFeature | denotes | MLD | 0018868|0009591 |
| T14 | 655-659 | DiseaseOrPhenotypicFeature | denotes | ARSA | 0016828 |
| T15 | 712-715 | DiseaseOrPhenotypicFeature | denotes | MLD | 0018868|0009591 |
LitCoin-NCBITaxon-2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 562-570 | OrganismTaxon | denotes | patients |
LitCoin-MeSH-Disease-2
| Id | Subject | Object | Predicate | Lexical cue | ID: |
|---|---|---|---|---|---|
| T1 | 11-39 | DiseaseOrPhenotypicFeature | denotes | metachromatic leukodystrophy | D007966 |
| T2 | 159-187 | DiseaseOrPhenotypicFeature | denotes | metachromatic leukodystrophy | D007966 |
| T3 | 189-192 | DiseaseOrPhenotypicFeature | denotes | MLD | D007966 |
| T4 | 363-366 | DiseaseOrPhenotypicFeature | denotes | MLD | D007966 |
| T5 | 576-579 | DiseaseOrPhenotypicFeature | denotes | MLD | D007966 |
| T6 | 712-715 | DiseaseOrPhenotypicFeature | denotes | MLD | D007966 |
LitCoin-MONDO_bioort2019
| Id | Subject | Object | Predicate | Lexical cue | #label |
|---|---|---|---|---|---|
| T1 | 11-39 | DiseaseOrPhenotypicFeature | denotes | metachromatic leukodystrophy | D007966 |
| T2 | 159-187 | DiseaseOrPhenotypicFeature | denotes | metachromatic leukodystrophy | D007966 |
| T3 | 189-192 | DiseaseOrPhenotypicFeature | denotes | MLD | D007966 |
| T4 | 363-366 | DiseaseOrPhenotypicFeature | denotes | MLD | D007966 |
| T5 | 576-579 | DiseaseOrPhenotypicFeature | denotes | MLD | D007966 |
| T6 | 712-715 | DiseaseOrPhenotypicFeature | denotes | MLD | D007966 |
LitCoin-Chemical-MeSH-CHEBI
| Id | Subject | Object | Predicate | Lexical cue | ID: |
|---|---|---|---|---|---|
| T1 | 111-124 | ChemicalEntity | denotes | arylsulfatase | D001192 |
| T2 | 264-277 | ChemicalEntity | denotes | arylsulfatase | D001192 |
| T3 | 306-315 | ChemicalEntity | denotes | glutamine | http://purl.obolibrary.org/obo/CHEBI_28300 |
| T4 | 386-395 | ChemicalEntity | denotes | glutamine | http://purl.obolibrary.org/obo/CHEBI_28300 |
LitCoin-training-merged
| Id | Subject | Object | Predicate | Lexical cue | #label | ID: |
|---|---|---|---|---|---|---|
| T4 | 386-395 | ChemicalEntity | denotes | glutamine | http://purl.obolibrary.org/obo/CHEBI_28300 | |
| T3 | 306-315 | ChemicalEntity | denotes | glutamine | http://purl.obolibrary.org/obo/CHEBI_28300 | |
| T2 | 264-277 | ChemicalEntity | denotes | arylsulfatase | D001192 | |
| T1 | 111-124 | ChemicalEntity | denotes | arylsulfatase | D001192 | |
| T6 | 655-659 | GeneOrGeneProduct | denotes | ARSA | ||
| T5 | 484-488 | GeneOrGeneProduct | denotes | ARSA | ||
| T93321 | 442-446 | GeneOrGeneProduct | denotes | ARSA | ||
| T34812 | 264-277 | GeneOrGeneProduct | denotes | arylsulfatase | ||
| T946 | 128-132 | GeneOrGeneProduct | denotes | ARSA | ||
| T46637 | 111-126 | GeneOrGeneProduct | denotes | arylsulfatase A | ||
| T3986 | 712-715 | DiseaseOrPhenotypicFeature | denotes | MLD | D007966 | |
| T69071 | 576-579 | DiseaseOrPhenotypicFeature | denotes | MLD | D007966 | |
| T67418 | 363-366 | DiseaseOrPhenotypicFeature | denotes | MLD | D007966 | |
| T56010 | 189-192 | DiseaseOrPhenotypicFeature | denotes | MLD | D007966 | |
| T87689 | 159-187 | DiseaseOrPhenotypicFeature | denotes | metachromatic leukodystrophy | D007966 | |
| T72183 | 11-39 | DiseaseOrPhenotypicFeature | denotes | metachromatic leukodystrophy | D007966 | |
| T21888 | 562-570 | OrganismTaxon | denotes | patients |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 1353340-3#55#78#geners769892461 | 372-395 | geners769892461 | denotes | arginine84 to glutamine |
| 1353340-3#46#49#diseaseC0023522 | 363-366 | diseaseC0023522 | denotes | MLD |
| 55#78#geners76989246146#49#diseaseC0023522 | 1353340-3#55#78#geners769892461 | 1353340-3#46#49#diseaseC0023522 | associated_with | arginine84 to glutamine,MLD |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 1353340-4#27#31#gene410 | 484-488 | gene410 | denotes | ARSA |
| 1353340-4#198#202#gene410 | 655-659 | gene410 | denotes | ARSA |
| 1353340-4#119#122#diseaseC0023522 | 576-579 | diseaseC0023522 | denotes | MLD |
| 1353340-4#255#258#diseaseC0023522 | 712-715 | diseaseC0023522 | denotes | MLD |
| 27#31#gene410119#122#diseaseC0023522 | 1353340-4#27#31#gene410 | 1353340-4#119#122#diseaseC0023522 | associated_with | ARSA,MLD |
| 27#31#gene410255#258#diseaseC0023522 | 1353340-4#27#31#gene410 | 1353340-4#255#258#diseaseC0023522 | associated_with | ARSA,MLD |
| 198#202#gene410119#122#diseaseC0023522 | 1353340-4#198#202#gene410 | 1353340-4#119#122#diseaseC0023522 | associated_with | ARSA,MLD |
| 198#202#gene410255#258#diseaseC0023522 | 1353340-4#198#202#gene410 | 1353340-4#255#258#diseaseC0023522 | associated_with | ARSA,MLD |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 25-39 | HP:0002415 | denotes | leukodystrophy |
| AB1 | 173-187 | HP:0002415 | denotes | leukodystrophy |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 11-39 | ORDO:512 | denotes | metachromatic leukodystrophy |
| AB1 | 159-187 | ORDO:512 | denotes | metachromatic leukodystrophy |
| AB2 | 189-192 | ORDO:512 | denotes | MLD |
| AB3 | 363-366 | ORDO:512 | denotes | MLD |
| AB4 | 576-579 | ORDO:512 | denotes | MLD |
| AB5 | 712-715 | ORDO:512 | denotes | MLD |
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-77 | Sentence | denotes | Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. |
| TextSentencer_T2 | 78-194 | Sentence | denotes | We report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). |
| TextSentencer_T3 | 195-316 | Sentence | denotes | In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. |
| TextSentencer_T4 | 317-456 | Sentence | denotes | In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity. |
| TextSentencer_T5 | 457-716 | Sentence | denotes | A comparison of genotypes, ARSA activities, and clinical data on 4 individuals carrying the allele of 81 patients with MLD examined, further validates the concept that different degrees of residual ARSA activity are the basis of phenotypical variation in MLD. |
| T1 | 0-77 | Sentence | denotes | Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. |
| T2 | 78-194 | Sentence | denotes | We report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). |
| T3 | 195-316 | Sentence | denotes | In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. |
| T4 | 317-456 | Sentence | denotes | In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity. |
| T5 | 457-716 | Sentence | denotes | A comparison of genotypes, ARSA activities, and clinical data on 4 individuals carrying the allele of 81 patients with MLD examined, further validates the concept that different degrees of residual ARSA activity are the basis of phenotypical variation in MLD. |
NCBIDiseaseCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 11-39 | SpecificDisease:D007966 | denotes | metachromatic leukodystrophy |
| T2 | 159-187 | SpecificDisease:D007966 | denotes | metachromatic leukodystrophy |
| T3 | 189-192 | SpecificDisease:D007966 | denotes | MLD |
| T4 | 363-366 | SpecificDisease:D007966 | denotes | MLD |
| T5 | 576-579 | Modifier:D007966 | denotes | MLD |
| T6 | 712-715 | SpecificDisease:D007966 | denotes | MLD |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 128-132 | gene:410 | denotes | ARSA |
| T1 | 189-192 | disease:C0023522 | denotes | MLD |
| T2 | 128-132 | gene:410 | denotes | ARSA |
| T3 | 159-187 | disease:C0023522 | denotes | metachromatic leukodystrophy |
| T4 | 111-126 | gene:410 | denotes | arylsulfatase A |
| T5 | 189-192 | disease:C0023522 | denotes | MLD |
| T6 | 111-126 | gene:410 | denotes | arylsulfatase A |
| T7 | 159-187 | disease:C0023522 | denotes | metachromatic leukodystrophy |
| T8 | 655-659 | gene:410 | denotes | ARSA |
| T9 | 712-715 | disease:C0023522 | denotes | MLD |
| T10 | 484-488 | gene:410 | denotes | ARSA |
| T11 | 712-715 | disease:C0023522 | denotes | MLD |
| T12 | 484-488 | gene:410 | denotes | ARSA |
| T13 | 576-579 | disease:C0023522 | denotes | MLD |
| R1 | T0 | T1 | associated_with | ARSA,MLD |
| R2 | T2 | T3 | associated_with | ARSA,metachromatic leukodystrophy |
| R3 | T4 | T5 | associated_with | arylsulfatase A,MLD |
| R4 | T6 | T7 | associated_with | arylsulfatase A,metachromatic leukodystrophy |
| R5 | T8 | T9 | associated_with | ARSA,MLD |
| R6 | T10 | T11 | associated_with | ARSA,MLD |
| R7 | T12 | T13 | associated_with | ARSA,MLD |
NCBI-Disease-Train
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T740 | 11-39 | SpecificDisease | denotes | metachromatic leukodystrophy | D007966 |
| T741 | 159-187 | SpecificDisease | denotes | metachromatic leukodystrophy | D007966 |
| T742 | 189-192 | SpecificDisease | denotes | MLD | D007966 |
| T743 | 363-366 | SpecificDisease | denotes | MLD | D007966 |
| T744 | 576-579 | Modifier | denotes | MLD | D007966 |
| T745 | 712-715 | SpecificDisease | denotes | MLD | D007966 |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T740 | 11-39 | SpecificDisease | denotes | metachromatic leukodystrophy | D007966 |
| T741 | 159-187 | SpecificDisease | denotes | metachromatic leukodystrophy | D007966 |
| T742 | 189-192 | SpecificDisease | denotes | MLD | D007966 |
| T743 | 363-366 | SpecificDisease | denotes | MLD | D007966 |
| T744 | 576-579 | Modifier | denotes | MLD | D007966 |
| T745 | 712-715 | SpecificDisease | denotes | MLD | D007966 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 11-39 | SpecificDisease | denotes | metachromatic leukodystrophy |
| T2 | 159-187 | SpecificDisease | denotes | metachromatic leukodystrophy |
| T3 | 189-192 | SpecificDisease | denotes | MLD |
| T4 | 363-366 | SpecificDisease | denotes | MLD |
| T5 | 576-579 | SpecificDisease | denotes | MLD |
| T6 | 712-715 | SpecificDisease | denotes | MLD |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 11-39 | SpecificDisease | denotes | metachromatic leukodystrophy |
| T2 | 159-187 | SpecificDisease | denotes | metachromatic leukodystrophy |
| T3 | 189-192 | SpecificDisease | denotes | MLD |
| T4 | 363-366 | SpecificDisease | denotes | MLD |
| T5 | 576-579 | SpecificDisease | denotes | MLD |
| T6 | 712-715 | SpecificDisease | denotes | MLD |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 11-39 | SpecificDisease | denotes | metachromatic leukodystrophy |
| T2 | 159-187 | SpecificDisease | denotes | metachromatic leukodystrophy |
| T3 | 189-192 | SpecificDisease | denotes | MLD |
| T4 | 363-366 | SpecificDisease | denotes | MLD |
| T5 | 576-579 | SpecificDisease | denotes | MLD |
| T6 | 712-715 | SpecificDisease | denotes | MLD |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-39 | SpecificDisease | denotes | Late-onset metachromatic leukodystrophy |
| T2 | 148-193 | SpecificDisease | denotes | late-onset metachromatic leukodystrophy (MLD) |
| T3 | 351-362 | Modifier | denotes | early-onset |
| T4 | 363-366 | SpecificDisease | denotes | MLD |
| T5 | 576-579 | SpecificDisease | denotes | MLD |
| T6 | 712-715 | SpecificDisease | denotes | MLD |