PubMed:1353340 JSONTXT

{"project":"LitCoin-entities","denotations":[{"id":"0","span":{"begin":11,"end":39},"obj":"DiseaseOrPhenotypicFeature"},{"id":"1","span":{"begin":111,"end":126},"obj":"GeneOrGeneProduct"},{"id":"2","span":{"begin":128,"end":132},"obj":"GeneOrGeneProduct"},{"id":"3","span":{"begin":159,"end":187},"obj":"DiseaseOrPhenotypicFeature"},{"id":"4","span":{"begin":189,"end":192},"obj":"DiseaseOrPhenotypicFeature"},{"id":"5","span":{"begin":210,"end":220},"obj":"SequenceVariant"},{"id":"6","span":{"begin":264,"end":277},"obj":"GeneOrGeneProduct"},{"id":"7","span":{"begin":363,"end":366},"obj":"DiseaseOrPhenotypicFeature"},{"id":"8","span":{"begin":372,"end":395},"obj":"SequenceVariant"},{"id":"9","span":{"begin":442,"end":446},"obj":"GeneOrGeneProduct"},{"id":"10","span":{"begin":484,"end":488},"obj":"GeneOrGeneProduct"},{"id":"11","span":{"begin":562,"end":570},"obj":"OrganismTaxon"},{"id":"12","span":{"begin":576,"end":579},"obj":"DiseaseOrPhenotypicFeature"},{"id":"13","span":{"begin":655,"end":659},"obj":"GeneOrGeneProduct"},{"id":"14","span":{"begin":712,"end":715},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"db_id","subj":"0","obj":"MESH:D007966"},{"id":"A2","pred":"db_id","subj":"1","obj":"NCBIGene:410"},{"id":"A3","pred":"db_id","subj":"2","obj":"NCBIGene:410"},{"id":"A4","pred":"db_id","subj":"3","obj":"MESH:D007966"},{"id":"A5","pred":"db_id","subj":"4","obj":"MESH:D007966"},{"id":"A6","pred":"db_id","subj":"5","obj":"DBSNP:rs74315458"},{"id":"A7","pred":"db_id","subj":"6","obj":"NCBIGene:410"},{"id":"A8","pred":"db_id","subj":"7","obj":"MESH:D007966"},{"id":"A9","pred":"db_id","subj":"8","obj":"DBSNP:rs74315458"},{"id":"A10","pred":"db_id","subj":"9","obj":"NCBIGene:410"},{"id":"A11","pred":"db_id","subj":"10","obj":"NCBIGene:410"},{"id":"A12","pred":"db_id","subj":"11","obj":"NCBITaxon:9606"},{"id":"A13","pred":"db_id","subj":"12","obj":"MESH:D007966"},{"id":"A14","pred":"db_id","subj":"13","obj":"NCBIGene:410"},{"id":"A15","pred":"db_id","subj":"14","obj":"MESH:D007966"}],"namespaces":[{"prefix":"_base","uri":"https://w3id.org/biolink/vocab/"},{"prefix":"MESH","uri":"http://id.nlm.nih.gov/mesh/"},{"prefix":"NCBITaxon","uri":"https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id="},{"prefix":"NCBIGene","uri":"https://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"OMIM","uri":"https://www.omim.org/entry/"},{"prefix":"DBSNP","uri":"https://www.ncbi.nlm.nih.gov/snp/"}],"text":"Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.\nWe report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity. 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."}

{"project":"LitCoin-sentences","denotations":[{"id":"T1","span":{"begin":0,"end":77},"obj":"Sentence"},{"id":"T2","span":{"begin":78,"end":194},"obj":"Sentence"},{"id":"T3","span":{"begin":195,"end":316},"obj":"Sentence"},{"id":"T4","span":{"begin":317,"end":456},"obj":"Sentence"},{"id":"T5","span":{"begin":457,"end":716},"obj":"Sentence"}],"text":"Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.\nWe report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity. 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."}

{"project":"LitCoin_Mondo","denotations":[{"id":"T1","span":{"begin":11,"end":39},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":25,"end":39},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":159,"end":187},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":173,"end":187},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0018868"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0019046"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0018868"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"0019046"}],"text":"Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.\nWe report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity. 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."}

{"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T1","span":{"begin":0,"end":4},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":111,"end":126},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":128,"end":132},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":148,"end":152},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":240,"end":246},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":247,"end":256},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":264,"end":277},"obj":"GeneOrGeneProduct"},{"id":"T8","span":{"begin":306,"end":315},"obj":"GeneOrGeneProduct"},{"id":"T9","span":{"begin":320,"end":328},"obj":"GeneOrGeneProduct"},{"id":"T10","span":{"begin":351,"end":356},"obj":"GeneOrGeneProduct"},{"id":"T11","span":{"begin":386,"end":395},"obj":"GeneOrGeneProduct"},{"id":"T12","span":{"begin":442,"end":446},"obj":"GeneOrGeneProduct"},{"id":"T13","span":{"begin":447,"end":455},"obj":"GeneOrGeneProduct"},{"id":"T14","span":{"begin":484,"end":488},"obj":"GeneOrGeneProduct"},{"id":"T15","span":{"begin":489,"end":499},"obj":"GeneOrGeneProduct"},{"id":"T16","span":{"begin":612,"end":619},"obj":"GeneOrGeneProduct"},{"id":"T17","span":{"begin":655,"end":659},"obj":"GeneOrGeneProduct"},{"id":"T18","span":{"begin":660,"end":668},"obj":"GeneOrGeneProduct"},{"id":"T19","span":{"begin":677,"end":682},"obj":"GeneOrGeneProduct"}],"text":"Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.\nWe report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity. 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."}

{"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T1","span":{"begin":111,"end":126},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":128,"end":132},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":247,"end":256},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":264,"end":277},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":306,"end":315},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":351,"end":356},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":386,"end":395},"obj":"GeneOrGeneProduct"},{"id":"T8","span":{"begin":442,"end":446},"obj":"GeneOrGeneProduct"},{"id":"T9","span":{"begin":484,"end":488},"obj":"GeneOrGeneProduct"},{"id":"T10","span":{"begin":655,"end":659},"obj":"GeneOrGeneProduct"}],"text":"Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.\nWe report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity. 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."}

{"project":"LitCoin-Disease-MeSH","denotations":[{"id":"T1","span":{"begin":11,"end":39},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":159,"end":187},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":189,"end":192},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":363,"end":366},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":576,"end":579},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":712,"end":715},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"originalLabel","subj":"T1","obj":"D007966"},{"id":"A2","pred":"originalLabel","subj":"T2","obj":"D007966"},{"id":"A3","pred":"originalLabel","subj":"T3","obj":"D007966"},{"id":"A4","pred":"originalLabel","subj":"T4","obj":"D007966"},{"id":"A5","pred":"originalLabel","subj":"T5","obj":"D007966"},{"id":"A6","pred":"originalLabel","subj":"T6","obj":"D007966"}],"text":"Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.\nWe report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity. 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."}

{"project":"LitCoin-GeneOrGeneProduct-v3","denotations":[{"id":"T1","span":{"begin":111,"end":126},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":128,"end":132},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":264,"end":277},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":442,"end":446},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":484,"end":488},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":655,"end":659},"obj":"GeneOrGeneProduct"}],"text":"Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.\nWe report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity. 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."}

{"project":"LitCoin_Mondo_095","denotations":[{"id":"T1","span":{"begin":11,"end":39},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":128,"end":132},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":159,"end":187},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":189,"end":192},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T8","span":{"begin":363,"end":366},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T10","span":{"begin":442,"end":446},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T11","span":{"begin":484,"end":488},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T12","span":{"begin":576,"end":579},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T14","span":{"begin":655,"end":659},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T15","span":{"begin":712,"end":715},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A15","pred":"mondo_id","subj":"T15","obj":"0018868"},{"id":"A16","pred":"mondo_id","subj":"T15","obj":"0009591"},{"id":"A11","pred":"mondo_id","subj":"T11","obj":"0016828"},{"id":"A10","pred":"mondo_id","subj":"T10","obj":"0016828"},{"id":"A12","pred":"mondo_id","subj":"T12","obj":"0018868"},{"id":"A13","pred":"mondo_id","subj":"T12","obj":"0009591"},{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0018868"},{"id":"A2","pred":"mondo_id","subj":"T1","obj":"0009591"},{"id":"A14","pred":"mondo_id","subj":"T14","obj":"0016828"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0016828"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"0018868"},{"id":"A5","pred":"mondo_id","subj":"T4","obj":"0009591"},{"id":"A8","pred":"mondo_id","subj":"T8","obj":"0018868"},{"id":"A9","pred":"mondo_id","subj":"T8","obj":"0009591"},{"id":"A6","pred":"mondo_id","subj":"T6","obj":"0018868"},{"id":"A7","pred":"mondo_id","subj":"T6","obj":"0009591"}],"text":"Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.\nWe report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity. 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."}

{"project":"LitCoin-NCBITaxon-2","denotations":[{"id":"T1","span":{"begin":562,"end":570},"obj":"OrganismTaxon"}],"text":"Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.\nWe report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity. 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."}

{"project":"LitCoin-MeSH-Disease-2","denotations":[{"id":"T1","span":{"begin":11,"end":39},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":159,"end":187},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":189,"end":192},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":363,"end":366},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":576,"end":579},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":712,"end":715},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"ID:","subj":"T1","obj":"D007966"},{"id":"A2","pred":"ID:","subj":"T2","obj":"D007966"},{"id":"A3","pred":"ID:","subj":"T3","obj":"D007966"},{"id":"A4","pred":"ID:","subj":"T4","obj":"D007966"},{"id":"A5","pred":"ID:","subj":"T5","obj":"D007966"},{"id":"A6","pred":"ID:","subj":"T6","obj":"D007966"}],"text":"Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.\nWe report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity. 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."}

{"project":"LitCoin-MONDO_bioort2019","denotations":[{"id":"T1","span":{"begin":11,"end":39},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":159,"end":187},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":189,"end":192},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":363,"end":366},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":576,"end":579},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":712,"end":715},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"#label","subj":"T1","obj":"D007966"},{"id":"A2","pred":"#label","subj":"T2","obj":"D007966"},{"id":"A3","pred":"#label","subj":"T3","obj":"D007966"},{"id":"A4","pred":"#label","subj":"T4","obj":"D007966"},{"id":"A5","pred":"#label","subj":"T5","obj":"D007966"},{"id":"A6","pred":"#label","subj":"T6","obj":"D007966"}],"text":"Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.\nWe report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity. 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."}

{"project":"LitCoin-Chemical-MeSH-CHEBI","denotations":[{"id":"T1","span":{"begin":111,"end":124},"obj":"ChemicalEntity"},{"id":"T2","span":{"begin":264,"end":277},"obj":"ChemicalEntity"},{"id":"T3","span":{"begin":306,"end":315},"obj":"ChemicalEntity"},{"id":"T4","span":{"begin":386,"end":395},"obj":"ChemicalEntity"}],"attributes":[{"id":"A1","pred":"ID:","subj":"T1","obj":"D001192"},{"id":"A2","pred":"ID:","subj":"T2","obj":"D001192"},{"id":"A3","pred":"ID:","subj":"T3","obj":"http://purl.obolibrary.org/obo/CHEBI_28300"},{"id":"A4","pred":"ID:","subj":"T4","obj":"http://purl.obolibrary.org/obo/CHEBI_28300"}],"text":"Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.\nWe report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity. 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."}

{"project":"LitCoin-training-merged","denotations":[{"id":"T4","span":{"begin":386,"end":395},"obj":"ChemicalEntity"},{"id":"T3","span":{"begin":306,"end":315},"obj":"ChemicalEntity"},{"id":"T2","span":{"begin":264,"end":277},"obj":"ChemicalEntity"},{"id":"T1","span":{"begin":111,"end":124},"obj":"ChemicalEntity"},{"id":"T6","span":{"begin":655,"end":659},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":484,"end":488},"obj":"GeneOrGeneProduct"},{"id":"T93321","span":{"begin":442,"end":446},"obj":"GeneOrGeneProduct"},{"id":"T34812","span":{"begin":264,"end":277},"obj":"GeneOrGeneProduct"},{"id":"T946","span":{"begin":128,"end":132},"obj":"GeneOrGeneProduct"},{"id":"T46637","span":{"begin":111,"end":126},"obj":"GeneOrGeneProduct"},{"id":"T3986","span":{"begin":712,"end":715},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T69071","span":{"begin":576,"end":579},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T67418","span":{"begin":363,"end":366},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T56010","span":{"begin":189,"end":192},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T87689","span":{"begin":159,"end":187},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T72183","span":{"begin":11,"end":39},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T21888","span":{"begin":562,"end":570},"obj":"OrganismTaxon"}],"attributes":[{"id":"A4","pred":"ID:","subj":"T4","obj":"http://purl.obolibrary.org/obo/CHEBI_28300"},{"id":"A3","pred":"ID:","subj":"T3","obj":"http://purl.obolibrary.org/obo/CHEBI_28300"},{"id":"A2","pred":"ID:","subj":"T2","obj":"D001192"},{"id":"A1","pred":"ID:","subj":"T1","obj":"D001192"},{"id":"A6","pred":"#label","subj":"T3986","obj":"D007966"},{"id":"A5","pred":"#label","subj":"T69071","obj":"D007966"},{"id":"A94775","pred":"#label","subj":"T67418","obj":"D007966"},{"id":"A19942","pred":"#label","subj":"T56010","obj":"D007966"},{"id":"A14450","pred":"#label","subj":"T87689","obj":"D007966"},{"id":"A57606","pred":"#label","subj":"T72183","obj":"D007966"}],"text":"Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.\nWe report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity. 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."}

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"1353340-3#55#78#geners769892461","span":{"begin":372,"end":395},"obj":"geners769892461"},{"id":"1353340-3#46#49#diseaseC0023522","span":{"begin":363,"end":366},"obj":"diseaseC0023522"}],"relations":[{"id":"55#78#geners76989246146#49#diseaseC0023522","pred":"associated_with","subj":"1353340-3#55#78#geners769892461","obj":"1353340-3#46#49#diseaseC0023522"}],"text":"Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.\nWe report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity. 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."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"1353340-4#27#31#gene410","span":{"begin":484,"end":488},"obj":"gene410"},{"id":"1353340-4#198#202#gene410","span":{"begin":655,"end":659},"obj":"gene410"},{"id":"1353340-4#119#122#diseaseC0023522","span":{"begin":576,"end":579},"obj":"diseaseC0023522"},{"id":"1353340-4#255#258#diseaseC0023522","span":{"begin":712,"end":715},"obj":"diseaseC0023522"}],"relations":[{"id":"27#31#gene410119#122#diseaseC0023522","pred":"associated_with","subj":"1353340-4#27#31#gene410","obj":"1353340-4#119#122#diseaseC0023522"},{"id":"27#31#gene410255#258#diseaseC0023522","pred":"associated_with","subj":"1353340-4#27#31#gene410","obj":"1353340-4#255#258#diseaseC0023522"},{"id":"198#202#gene410119#122#diseaseC0023522","pred":"associated_with","subj":"1353340-4#198#202#gene410","obj":"1353340-4#119#122#diseaseC0023522"},{"id":"198#202#gene410255#258#diseaseC0023522","pred":"associated_with","subj":"1353340-4#198#202#gene410","obj":"1353340-4#255#258#diseaseC0023522"}],"text":"Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.\nWe report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity. 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."}

{"project":"PubCasesHPO","denotations":[{"id":"TI1","span":{"begin":25,"end":39},"obj":"HP:0002415"},{"id":"AB1","span":{"begin":173,"end":187},"obj":"HP:0002415"}],"text":"Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.\nWe report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity. 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."}

{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":11,"end":39},"obj":"ORDO:512"},{"id":"AB1","span":{"begin":159,"end":187},"obj":"ORDO:512"},{"id":"AB2","span":{"begin":189,"end":192},"obj":"ORDO:512"},{"id":"AB3","span":{"begin":363,"end":366},"obj":"ORDO:512"},{"id":"AB4","span":{"begin":576,"end":579},"obj":"ORDO:512"},{"id":"AB5","span":{"begin":712,"end":715},"obj":"ORDO:512"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.\nWe report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity. 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."}

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":77},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":78,"end":194},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":195,"end":316},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":317,"end":456},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":457,"end":716},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":77},"obj":"Sentence"},{"id":"T2","span":{"begin":78,"end":194},"obj":"Sentence"},{"id":"T3","span":{"begin":195,"end":316},"obj":"Sentence"},{"id":"T4","span":{"begin":317,"end":456},"obj":"Sentence"},{"id":"T5","span":{"begin":457,"end":716},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.\nWe report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity. 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."}

{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":11,"end":39},"obj":"SpecificDisease:D007966"},{"id":"T2","span":{"begin":159,"end":187},"obj":"SpecificDisease:D007966"},{"id":"T3","span":{"begin":189,"end":192},"obj":"SpecificDisease:D007966"},{"id":"T4","span":{"begin":363,"end":366},"obj":"SpecificDisease:D007966"},{"id":"T5","span":{"begin":576,"end":579},"obj":"Modifier:D007966"},{"id":"T6","span":{"begin":712,"end":715},"obj":"SpecificDisease:D007966"}],"text":"Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.\nWe report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity. 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."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":128,"end":132},"obj":"gene:410"},{"id":"T1","span":{"begin":189,"end":192},"obj":"disease:C0023522"},{"id":"T2","span":{"begin":128,"end":132},"obj":"gene:410"},{"id":"T3","span":{"begin":159,"end":187},"obj":"disease:C0023522"},{"id":"T4","span":{"begin":111,"end":126},"obj":"gene:410"},{"id":"T5","span":{"begin":189,"end":192},"obj":"disease:C0023522"},{"id":"T6","span":{"begin":111,"end":126},"obj":"gene:410"},{"id":"T7","span":{"begin":159,"end":187},"obj":"disease:C0023522"},{"id":"T8","span":{"begin":655,"end":659},"obj":"gene:410"},{"id":"T9","span":{"begin":712,"end":715},"obj":"disease:C0023522"},{"id":"T10","span":{"begin":484,"end":488},"obj":"gene:410"},{"id":"T11","span":{"begin":712,"end":715},"obj":"disease:C0023522"},{"id":"T12","span":{"begin":484,"end":488},"obj":"gene:410"},{"id":"T13","span":{"begin":576,"end":579},"obj":"disease:C0023522"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"},{"id":"R4","pred":"associated_with","subj":"T6","obj":"T7"},{"id":"R5","pred":"associated_with","subj":"T8","obj":"T9"},{"id":"R6","pred":"associated_with","subj":"T10","obj":"T11"},{"id":"R7","pred":"associated_with","subj":"T12","obj":"T13"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.\nWe report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity. 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."}