PubMed:21684788 / 498-620
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/21684788","sourcedb":"PubMed","sourceid":"21684788","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/21684788","text":"We now describe 2 SLS patients whose disease is caused by large contiguous gene deletions of the ALDH3A2 locus on 17p11.2.","tracks":[{"project":"LitCoin-sentences","denotations":[{"id":"T4","span":{"begin":0,"end":122},"obj":"Sentence"}],"attributes":[{"subj":"T4","pred":"source","obj":"LitCoin-sentences"}]},{"project":"LitCoin-entities","denotations":[{"id":"8707","span":{"begin":18,"end":21},"obj":"DiseaseOrPhenotypicFeature"},{"id":"8708","span":{"begin":22,"end":30},"obj":"OrganismTaxon"},{"id":"8709","span":{"begin":97,"end":104},"obj":"GeneOrGeneProduct"}],"attributes":[{"id":"A14","pred":"db_id","subj":"8707","obj":"MESH:D016111"},{"id":"A15","pred":"db_id","subj":"8708","obj":"NCBITaxon:9606"},{"id":"A16","pred":"db_id","subj":"8709","obj":"NCBIGene:224"},{"subj":"8707","pred":"source","obj":"LitCoin-entities"},{"subj":"8708","pred":"source","obj":"LitCoin-entities"},{"subj":"8709","pred":"source","obj":"LitCoin-entities"}],"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/"}]},{"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T19","span":{"begin":58,"end":63},"obj":"GeneOrGeneProduct"},{"id":"T20","span":{"begin":97,"end":104},"obj":"GeneOrGeneProduct"}],"attributes":[{"subj":"T19","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T20","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"}]},{"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T10","span":{"begin":58,"end":63},"obj":"GeneOrGeneProduct"},{"id":"T11","span":{"begin":97,"end":104},"obj":"GeneOrGeneProduct"}],"attributes":[{"subj":"T10","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v2"},{"subj":"T11","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v2"}]},{"project":"LitCoin-Disease-MeSH","denotations":[{"id":"T9","span":{"begin":18,"end":21},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T10","span":{"begin":37,"end":44},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A9","pred":"originalLabel","subj":"T9","obj":"D016111"},{"id":"A10","pred":"originalLabel","subj":"T10","obj":"D004194"},{"subj":"T9","pred":"source","obj":"LitCoin-Disease-MeSH"},{"subj":"T10","pred":"source","obj":"LitCoin-Disease-MeSH"}]},{"project":"LitCoin-GeneOrGeneProduct-v3","denotations":[{"id":"T3","span":{"begin":97,"end":104},"obj":"GeneOrGeneProduct"}],"attributes":[{"subj":"T3","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v3"}]},{"project":"LitCoin_Mondo_095","denotations":[{"id":"T9","span":{"begin":18,"end":21},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A9","pred":"mondo_id","subj":"T9","obj":"0700001"},{"id":"A10","pred":"mondo_id","subj":"T9","obj":"0010031"},{"subj":"T9","pred":"source","obj":"LitCoin_Mondo_095"}]},{"project":"LitCoin-MeSH-Disease-2","denotations":[{"id":"T8","span":{"begin":18,"end":21},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T9","span":{"begin":37,"end":44},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A8","pred":"ID:","subj":"T8","obj":"D016111"},{"id":"A9","pred":"ID:","subj":"T9","obj":"D004194"},{"subj":"T8","pred":"source","obj":"LitCoin-MeSH-Disease-2"},{"subj":"T9","pred":"source","obj":"LitCoin-MeSH-Disease-2"}]},{"project":"LitCoin-Chemical-MeSH-CHEBI","denotations":[{"id":"T8","span":{"begin":18,"end":21},"obj":"ChemicalEntity"}],"attributes":[{"id":"A8","pred":"ID:","subj":"T8","obj":"http://purl.obolibrary.org/obo/CHEBI_8984"},{"id":"A9","pred":"ID:","subj":"T8","obj":"http://purl.obolibrary.org/obo/CHEBI_144475"},{"subj":"T8","pred":"source","obj":"LitCoin-Chemical-MeSH-CHEBI"}]},{"project":"LitCoin-MONDO_bioort2019","denotations":[{"id":"T8","span":{"begin":18,"end":21},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A8","pred":"#label","subj":"T8","obj":"D016111"},{"subj":"T8","pred":"source","obj":"LitCoin-MONDO_bioort2019"}]},{"project":"LitCoin-NCBITaxon-2","denotations":[{"id":"T2","span":{"begin":22,"end":30},"obj":"OrganismTaxon"}],"attributes":[{"subj":"T2","pred":"source","obj":"LitCoin-NCBITaxon-2"}]},{"project":"LitCoin-training-merged","denotations":[{"id":"T8","span":{"begin":18,"end":21},"obj":"ChemicalEntity"},{"id":"T39806","span":{"begin":97,"end":104},"obj":"GeneOrGeneProduct"},{"id":"T4823","span":{"begin":18,"end":21},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T36850","span":{"begin":22,"end":30},"obj":"OrganismTaxon"}],"attributes":[{"id":"A9","pred":"ID:","subj":"T8","obj":"http://purl.obolibrary.org/obo/CHEBI_144475"},{"id":"A8","pred":"ID:","subj":"T8","obj":"http://purl.obolibrary.org/obo/CHEBI_8984"},{"id":"A39335","pred":"#label","subj":"T4823","obj":"D016111"},{"subj":"T8","pred":"source","obj":"LitCoin-training-merged"},{"subj":"T39806","pred":"source","obj":"LitCoin-training-merged"},{"subj":"T4823","pred":"source","obj":"LitCoin-training-merged"},{"subj":"T36850","pred":"source","obj":"LitCoin-training-merged"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"LitCoin-sentences","color":"#ecd693","default":true},{"id":"LitCoin-entities","color":"#bc93ec"},{"id":"LitCoin-GeneOrGeneProduct-v0","color":"#93eca2"},{"id":"LitCoin-GeneOrGeneProduct-v2","color":"#ec939e"},{"id":"LitCoin-Disease-MeSH","color":"#93b8ec"},{"id":"LitCoin-GeneOrGeneProduct-v3","color":"#d2ec93"},{"id":"LitCoin_Mondo_095","color":"#ec93ec"},{"id":"LitCoin-MeSH-Disease-2","color":"#93ecd2"},{"id":"LitCoin-Chemical-MeSH-CHEBI","color":"#ecb893"},{"id":"LitCoin-MONDO_bioort2019","color":"#9e93ec"},{"id":"LitCoin-NCBITaxon-2","color":"#a1ec93"},{"id":"LitCoin-training-merged","color":"#ec93bb"}]}]}}