
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 |
testtesttest
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 |
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 |