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PubMed:21684788 / 736-910
Annnotations
LitCoin-sentences
{"project":"LitCoin-sentences","denotations":[{"id":"T6","span":{"begin":0,"end":174},"obj":"Sentence"}],"text":"A 24-year-old SLS female was homozygous for a 352-kb deletion involving ALDH3A2 and 4 contiguous genes including ALDH3A1, which codes for the major soluble protein in cornea."}
LitCoin-entities
{"project":"LitCoin-entities","denotations":[{"id":"8710","span":{"begin":14,"end":17},"obj":"DiseaseOrPhenotypicFeature"},{"id":"8711","span":{"begin":46,"end":61},"obj":"SequenceVariant"},{"id":"8712","span":{"begin":72,"end":85},"obj":"GeneOrGeneProduct"},{"id":"8713","span":{"begin":113,"end":120},"obj":"GeneOrGeneProduct"}],"attributes":[{"id":"A17","pred":"db_id","subj":"8710","obj":"MESH:D016111"},{"id":"A18","pred":"db_id","subj":"8711","obj":"c|DEL||352K"},{"id":"A19","pred":"db_id","subj":"8712","obj":"NCBIGene:223"},{"id":"A20","pred":"db_id","subj":"8712","obj":"NCBIGene:224"},{"id":"A21","pred":"db_id","subj":"8713","obj":"NCBIGene:218"}],"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":"A 24-year-old SLS female was homozygous for a 352-kb deletion involving ALDH3A2 and 4 contiguous genes including ALDH3A1, which codes for the major soluble protein in cornea."}
LitCoin-GeneOrGeneProduct-v0
{"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T23","span":{"begin":0,"end":4},"obj":"GeneOrGeneProduct"},{"id":"T24","span":{"begin":5,"end":9},"obj":"GeneOrGeneProduct"},{"id":"T25","span":{"begin":72,"end":79},"obj":"GeneOrGeneProduct"},{"id":"T26","span":{"begin":113,"end":120},"obj":"GeneOrGeneProduct"},{"id":"T27","span":{"begin":142,"end":147},"obj":"GeneOrGeneProduct"},{"id":"T28","span":{"begin":156,"end":163},"obj":"GeneOrGeneProduct"}],"text":"A 24-year-old SLS female was homozygous for a 352-kb deletion involving ALDH3A2 and 4 contiguous genes including ALDH3A1, which codes for the major soluble protein in cornea."}
LitCoin-GeneOrGeneProduct-v2
{"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T12","span":{"begin":72,"end":79},"obj":"GeneOrGeneProduct"},{"id":"T13","span":{"begin":113,"end":120},"obj":"GeneOrGeneProduct"},{"id":"T14","span":{"begin":142,"end":147},"obj":"GeneOrGeneProduct"},{"id":"T15","span":{"begin":156,"end":163},"obj":"GeneOrGeneProduct"}],"text":"A 24-year-old SLS female was homozygous for a 352-kb deletion involving ALDH3A2 and 4 contiguous genes including ALDH3A1, which codes for the major soluble protein in cornea."}
LitCoin-Disease-MeSH
{"project":"LitCoin-Disease-MeSH","denotations":[{"id":"T11","span":{"begin":14,"end":17},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A11","pred":"originalLabel","subj":"T11","obj":"D016111"}],"text":"A 24-year-old SLS female was homozygous for a 352-kb deletion involving ALDH3A2 and 4 contiguous genes including ALDH3A1, which codes for the major soluble protein in cornea."}
LitCoin-GeneOrGeneProduct-v3
{"project":"LitCoin-GeneOrGeneProduct-v3","denotations":[{"id":"T4","span":{"begin":72,"end":79},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":113,"end":120},"obj":"GeneOrGeneProduct"}],"text":"A 24-year-old SLS female was homozygous for a 352-kb deletion involving ALDH3A2 and 4 contiguous genes including ALDH3A1, which codes for the major soluble protein in cornea."}
LitCoin_Mondo_095
{"project":"LitCoin_Mondo_095","denotations":[{"id":"T11","span":{"begin":14,"end":17},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A11","pred":"mondo_id","subj":"T11","obj":"0700001"},{"id":"A12","pred":"mondo_id","subj":"T11","obj":"0010031"}],"text":"A 24-year-old SLS female was homozygous for a 352-kb deletion involving ALDH3A2 and 4 contiguous genes including ALDH3A1, which codes for the major soluble protein in cornea."}
LitCoin-MeSH-Disease-2
{"project":"LitCoin-MeSH-Disease-2","denotations":[{"id":"T10","span":{"begin":14,"end":17},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A10","pred":"ID:","subj":"T10","obj":"D016111"}],"text":"A 24-year-old SLS female was homozygous for a 352-kb deletion involving ALDH3A2 and 4 contiguous genes including ALDH3A1, which codes for the major soluble protein in cornea."}
LitCoin-Chemical-MeSH-CHEBI
{"project":"LitCoin-Chemical-MeSH-CHEBI","denotations":[{"id":"T10","span":{"begin":14,"end":17},"obj":"ChemicalEntity"}],"attributes":[{"id":"A10","pred":"ID:","subj":"T10","obj":"http://purl.obolibrary.org/obo/CHEBI_8984"},{"id":"A11","pred":"ID:","subj":"T10","obj":"http://purl.obolibrary.org/obo/CHEBI_144475"}],"text":"A 24-year-old SLS female was homozygous for a 352-kb deletion involving ALDH3A2 and 4 contiguous genes including ALDH3A1, which codes for the major soluble protein in cornea."}
LitCoin-MONDO_bioort2019
{"project":"LitCoin-MONDO_bioort2019","denotations":[{"id":"T9","span":{"begin":14,"end":17},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A9","pred":"#label","subj":"T9","obj":"D016111"}],"text":"A 24-year-old SLS female was homozygous for a 352-kb deletion involving ALDH3A2 and 4 contiguous genes including ALDH3A1, which codes for the major soluble protein in cornea."}
LitCoin-training-merged
{"project":"LitCoin-training-merged","denotations":[{"id":"T10","span":{"begin":14,"end":17},"obj":"ChemicalEntity"},{"id":"T5","span":{"begin":113,"end":120},"obj":"GeneOrGeneProduct"},{"id":"T3187","span":{"begin":72,"end":79},"obj":"GeneOrGeneProduct"},{"id":"T9","span":{"begin":14,"end":17},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A11","pred":"ID:","subj":"T10","obj":"http://purl.obolibrary.org/obo/CHEBI_144475"},{"id":"A10","pred":"ID:","subj":"T10","obj":"http://purl.obolibrary.org/obo/CHEBI_8984"},{"id":"A82727","pred":"#label","subj":"T9","obj":"D016111"}],"text":"A 24-year-old SLS female was homozygous for a 352-kb deletion involving ALDH3A2 and 4 contiguous genes including ALDH3A1, which codes for the major soluble protein in cornea."}
DisGeNET
{"project":"DisGeNET","denotations":[{"id":"T2","span":{"begin":72,"end":79},"obj":"gene:224"},{"id":"T3","span":{"begin":14,"end":17},"obj":"disease:C0275814"}],"relations":[{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"A 24-year-old SLS female was homozygous for a 352-kb deletion involving ALDH3A2 and 4 contiguous genes including ALDH3A1, which codes for the major soluble protein in cornea."}
DisGeNET5_gene_disease
{"project":"DisGeNET5_gene_disease","denotations":[{"id":"21684788-5#72#79#gene224","span":{"begin":72,"end":79},"obj":"gene224"},{"id":"21684788-5#113#120#gene218","span":{"begin":113,"end":120},"obj":"gene218"},{"id":"21684788-5#14#17#diseaseC0037231","span":{"begin":14,"end":17},"obj":"diseaseC0037231"}],"relations":[{"id":"72#79#gene22414#17#diseaseC0037231","pred":"associated_with","subj":"21684788-5#72#79#gene224","obj":"21684788-5#14#17#diseaseC0037231"},{"id":"113#120#gene21814#17#diseaseC0037231","pred":"associated_with","subj":"21684788-5#113#120#gene218","obj":"21684788-5#14#17#diseaseC0037231"}],"text":"A 24-year-old SLS female was homozygous for a 352-kb deletion involving ALDH3A2 and 4 contiguous genes including ALDH3A1, which codes for the major soluble protein in cornea."}