PubMed:21684788 / 0-265
Annnotations
LitCoin-sentences
{"project":"LitCoin-sentences","denotations":[{"id":"T1","span":{"begin":0,"end":60},"obj":"Sentence"}],"text":"Large contiguous gene deletions in Sjögren-Larsson syndrome.\nSjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, an enzyme "}
LitCoin-entities
{"project":"LitCoin-entities","denotations":[{"id":"8694","span":{"begin":35,"end":59},"obj":"DiseaseOrPhenotypicFeature"},{"id":"8695","span":{"begin":61,"end":85},"obj":"DiseaseOrPhenotypicFeature"},{"id":"8696","span":{"begin":87,"end":90},"obj":"DiseaseOrPhenotypicFeature"},{"id":"8697","span":{"begin":98,"end":126},"obj":"DiseaseOrPhenotypicFeature"},{"id":"8698","span":{"begin":144,"end":154},"obj":"DiseaseOrPhenotypicFeature"},{"id":"8699","span":{"begin":156,"end":174},"obj":"DiseaseOrPhenotypicFeature"},{"id":"8700","span":{"begin":176,"end":186},"obj":"DiseaseOrPhenotypicFeature"},{"id":"8701","span":{"begin":208,"end":215},"obj":"GeneOrGeneProduct"},{"id":"8702","span":{"begin":225,"end":253},"obj":"GeneOrGeneProduct"}],"attributes":[{"id":"A1","pred":"db_id","subj":"8694","obj":"MESH:D016111"},{"id":"A2","pred":"db_id","subj":"8695","obj":"MESH:D016111"},{"id":"A3","pred":"db_id","subj":"8696","obj":"MESH:D016111"},{"id":"A4","pred":"db_id","subj":"8697","obj":"MESH:D030342"},{"id":"A5","pred":"db_id","subj":"8698","obj":"MESH:D007057"},{"id":"A6","pred":"db_id","subj":"8699","obj":"MESH:D008607"},{"id":"A7","pred":"db_id","subj":"8700","obj":"MESH:D009128"},{"id":"A8","pred":"db_id","subj":"8701","obj":"NCBIGene:224"},{"id":"A9","pred":"db_id","subj":"8702","obj":"NCBIGene:224"}],"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":"Large contiguous gene deletions in Sjögren-Larsson syndrome.\nSjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, an enzyme "}
LitCoin_Mondo
{"project":"LitCoin_Mondo","denotations":[{"id":"T1","span":{"begin":35,"end":59},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":61,"end":85},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":144,"end":154},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0010031"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0010031"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0019269"}],"text":"Large contiguous gene deletions in Sjögren-Larsson syndrome.\nSjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, an enzyme "}
LitCoin-GeneOrGeneProduct-v0
{"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T1","span":{"begin":0,"end":5},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":51,"end":59},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":77,"end":85},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":144,"end":154},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":176,"end":186},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":191,"end":200},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":208,"end":215},"obj":"GeneOrGeneProduct"},{"id":"T8","span":{"begin":225,"end":253},"obj":"GeneOrGeneProduct"},{"id":"T9","span":{"begin":258,"end":264},"obj":"GeneOrGeneProduct"}],"text":"Large contiguous gene deletions in Sjögren-Larsson syndrome.\nSjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, an enzyme "}
LitCoin-GeneOrGeneProduct-v2
{"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T1","span":{"begin":0,"end":5},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":51,"end":59},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":77,"end":85},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":144,"end":154},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":208,"end":215},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":225,"end":253},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":258,"end":264},"obj":"GeneOrGeneProduct"}],"text":"Large contiguous gene deletions in Sjögren-Larsson syndrome.\nSjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, an enzyme "}
LitCoin-Disease-MeSH
{"project":"LitCoin-Disease-MeSH","denotations":[{"id":"T1","span":{"begin":35,"end":59},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":61,"end":85},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":87,"end":90},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":98,"end":126},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":144,"end":154},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":156,"end":174},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":176,"end":186},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"originalLabel","subj":"T1","obj":"D016111"},{"id":"A2","pred":"originalLabel","subj":"T2","obj":"D016111"},{"id":"A3","pred":"originalLabel","subj":"T3","obj":"D016111"},{"id":"A4","pred":"originalLabel","subj":"T4","obj":"DISEASE"},{"id":"A5","pred":"originalLabel","subj":"T5","obj":"D007057"},{"id":"A6","pred":"originalLabel","subj":"T6","obj":"D008607"},{"id":"A7","pred":"originalLabel","subj":"T7","obj":"D009128"}],"text":"Large contiguous gene deletions in Sjögren-Larsson syndrome.\nSjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, an enzyme "}
LitCoin-GeneOrGeneProduct-v3
{"project":"LitCoin-GeneOrGeneProduct-v3","denotations":[{"id":"T1","span":{"begin":208,"end":215},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":225,"end":253},"obj":"GeneOrGeneProduct"}],"text":"Large contiguous gene deletions in Sjögren-Larsson syndrome.\nSjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, an enzyme "}
LitCoin_Mondo_095
{"project":"LitCoin_Mondo_095","denotations":[{"id":"T1","span":{"begin":35,"end":59},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":61,"end":85},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":87,"end":90},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":144,"end":154},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":156,"end":174},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0010031"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0010031"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0700001"},{"id":"A4","pred":"mondo_id","subj":"T3","obj":"0010031"},{"id":"A5","pred":"mondo_id","subj":"T5","obj":"0019269"},{"id":"A6","pred":"mondo_id","subj":"T6","obj":"0001071"}],"text":"Large contiguous gene deletions in Sjögren-Larsson syndrome.\nSjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, an enzyme "}
LitCoin-MeSH-Disease-2
{"project":"LitCoin-MeSH-Disease-2","denotations":[{"id":"T1","span":{"begin":35,"end":59},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":61,"end":85},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":87,"end":90},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":98,"end":126},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":144,"end":154},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":156,"end":174},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"ID:","subj":"T1","obj":"D016111"},{"id":"A2","pred":"ID:","subj":"T2","obj":"D016111"},{"id":"A3","pred":"ID:","subj":"T3","obj":"D016111"},{"id":"A4","pred":"ID:","subj":"T4","obj":"DISEASE"},{"id":"A5","pred":"ID:","subj":"T5","obj":"D007057"},{"id":"A6","pred":"ID:","subj":"T6","obj":"D008607"}],"text":"Large contiguous gene deletions in Sjögren-Larsson syndrome.\nSjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, an enzyme "}
LitCoin-Chemical-MeSH-CHEBI
{"project":"LitCoin-Chemical-MeSH-CHEBI","denotations":[{"id":"T1","span":{"begin":87,"end":90},"obj":"ChemicalEntity"},{"id":"T3","span":{"begin":225,"end":253},"obj":"ChemicalEntity"}],"attributes":[{"id":"A1","pred":"ID:","subj":"T1","obj":"http://purl.obolibrary.org/obo/CHEBI_8984"},{"id":"A2","pred":"ID:","subj":"T1","obj":"http://purl.obolibrary.org/obo/CHEBI_144475"},{"id":"A3","pred":"ID:","subj":"T3","obj":"C038828"}],"text":"Large contiguous gene deletions in Sjögren-Larsson syndrome.\nSjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, an enzyme "}
LitCoin-MONDO_bioort2019
{"project":"LitCoin-MONDO_bioort2019","denotations":[{"id":"T1","span":{"begin":35,"end":59},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":61,"end":85},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":87,"end":90},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":98,"end":126},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":144,"end":154},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":156,"end":174},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"#label","subj":"T1","obj":"D016111"},{"id":"A2","pred":"#label","subj":"T2","obj":"D016111"},{"id":"A3","pred":"#label","subj":"T3","obj":"D016111"},{"id":"A4","pred":"#label","subj":"T4","obj":"DISEASE"},{"id":"A5","pred":"#label","subj":"T5","obj":"D007057"},{"id":"A6","pred":"#label","subj":"T6","obj":"D008607"}],"text":"Large contiguous gene deletions in Sjögren-Larsson syndrome.\nSjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, an enzyme "}
LitCoin-training-merged
{"project":"LitCoin-training-merged","denotations":[{"id":"T3","span":{"begin":225,"end":253},"obj":"ChemicalEntity"},{"id":"T1","span":{"begin":87,"end":90},"obj":"ChemicalEntity"},{"id":"T2","span":{"begin":225,"end":253},"obj":"GeneOrGeneProduct"},{"id":"T53498","span":{"begin":208,"end":215},"obj":"GeneOrGeneProduct"},{"id":"T85215","span":{"begin":156,"end":174},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T85524","span":{"begin":144,"end":154},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T36180","span":{"begin":98,"end":126},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T31910","span":{"begin":87,"end":90},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T37692","span":{"begin":61,"end":85},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T18735","span":{"begin":35,"end":59},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A3","pred":"ID:","subj":"T3","obj":"C038828"},{"id":"A2","pred":"ID:","subj":"T1","obj":"http://purl.obolibrary.org/obo/CHEBI_144475"},{"id":"A1","pred":"ID:","subj":"T1","obj":"http://purl.obolibrary.org/obo/CHEBI_8984"},{"id":"A14125","pred":"#label","subj":"T85215","obj":"D008607"},{"id":"A66494","pred":"#label","subj":"T85524","obj":"D007057"},{"id":"A41640","pred":"#label","subj":"T36180","obj":"DISEASE"},{"id":"A96244","pred":"#label","subj":"T31910","obj":"D016111"},{"id":"A76808","pred":"#label","subj":"T37692","obj":"D016111"},{"id":"A26561","pred":"#label","subj":"T18735","obj":"D016111"}],"text":"Large contiguous gene deletions in Sjögren-Larsson syndrome.\nSjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, an enzyme "}
DisGeNET
{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":225,"end":253},"obj":"gene:224"},{"id":"T1","span":{"begin":61,"end":85},"obj":"disease:C0037231"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Large contiguous gene deletions in Sjögren-Larsson syndrome.\nSjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, an enzyme "}
PubmedHPO
{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":98,"end":117},"obj":"HP_0000007"},{"id":"T2","span":{"begin":144,"end":154},"obj":"HP_0008064"},{"id":"T3","span":{"begin":156,"end":174},"obj":"HP_0001249"},{"id":"T4","span":{"begin":176,"end":186},"obj":"HP_0001257"}],"text":"Large contiguous gene deletions in Sjögren-Larsson syndrome.\nSjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, an enzyme "}
Allie
{"project":"Allie","denotations":[{"id":"SS1_21684788_1_0","span":{"begin":35,"end":85},"obj":"expanded"},{"id":"SS2_21684788_1_0","span":{"begin":87,"end":90},"obj":"abbr"}],"relations":[{"id":"AE1_21684788_1_0","pred":"abbreviatedTo","subj":"SS1_21684788_1_0","obj":"SS2_21684788_1_0"}],"text":"Large contiguous gene deletions in Sjögren-Larsson syndrome.\nSjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, an enzyme "}
PubCasesHPO
{"project":"PubCasesHPO","denotations":[{"id":"AB1","span":{"begin":144,"end":154},"obj":"HP:0008064"},{"id":"AB2","span":{"begin":176,"end":186},"obj":"HP:0001257"}],"text":"Large contiguous gene deletions in Sjögren-Larsson syndrome.\nSjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, an enzyme "}