PubMed:19208385 / 510-722
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/19208385","sourcedb":"PubMed","sourceid":"19208385","text":"In all of these patients, OI was caused by glycine mutations affecting exon 49 of the COL1A2 gene, which codes for the most carboxy-terminal part of the triple-helical domain of the collagen type I alpha 2 chain.","tracks":[{"project":"LitCoin-sentences","denotations":[{"id":"T5","span":{"begin":0,"end":212},"obj":"Sentence"}],"attributes":[{"subj":"T5","pred":"source","obj":"LitCoin-sentences"}]},{"project":"LitCoin-entities","denotations":[{"id":"5793","span":{"begin":16,"end":24},"obj":"OrganismTaxon"},{"id":"5794","span":{"begin":26,"end":28},"obj":"DiseaseOrPhenotypicFeature"},{"id":"5795","span":{"begin":86,"end":92},"obj":"GeneOrGeneProduct"},{"id":"5796","span":{"begin":182,"end":205},"obj":"GeneOrGeneProduct"}],"attributes":[{"id":"A18","pred":"db_id","subj":"5793","obj":"NCBITaxon:9606"},{"id":"A19","pred":"db_id","subj":"5794","obj":"MESH:D010013"},{"id":"A20","pred":"db_id","subj":"5795","obj":"NCBIGene:1278"},{"id":"A21","pred":"db_id","subj":"5796","obj":"NCBIGene:1278"},{"subj":"5793","pred":"source","obj":"LitCoin-entities"},{"subj":"5794","pred":"source","obj":"LitCoin-entities"},{"subj":"5795","pred":"source","obj":"LitCoin-entities"},{"subj":"5796","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":"T11","span":{"begin":3,"end":6},"obj":"GeneOrGeneProduct"},{"id":"T12","span":{"begin":51,"end":60},"obj":"GeneOrGeneProduct"},{"id":"T13","span":{"begin":86,"end":92},"obj":"GeneOrGeneProduct"},{"id":"T14","span":{"begin":141,"end":145},"obj":"GeneOrGeneProduct"},{"id":"T15","span":{"begin":182,"end":211},"obj":"GeneOrGeneProduct"}],"attributes":[{"subj":"T11","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T12","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T13","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T14","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T15","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"}]},{"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T3","span":{"begin":86,"end":92},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":182,"end":211},"obj":"GeneOrGeneProduct"}],"attributes":[{"subj":"T3","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v2"},{"subj":"T4","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v2"}]},{"project":"LitCoin-Disease-MeSH","denotations":[{"id":"T13","span":{"begin":26,"end":28},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A13","pred":"originalLabel","subj":"T13","obj":"D010013"},{"subj":"T13","pred":"source","obj":"LitCoin-Disease-MeSH"}]},{"project":"LitCoin-GeneOrGeneProduct-v3","denotations":[{"id":"T2","span":{"begin":86,"end":92},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":182,"end":211},"obj":"GeneOrGeneProduct"}],"attributes":[{"subj":"T2","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v3"},{"subj":"T3","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v3"}]},{"project":"LitCoin_Mondo_095","denotations":[{"id":"T15","span":{"begin":26,"end":28},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A15","pred":"mondo_id","subj":"T15","obj":"0019019"},{"subj":"T15","pred":"source","obj":"LitCoin_Mondo_095"}]},{"project":"LitCoin-MeSH-Disease-2","denotations":[{"id":"T15","span":{"begin":26,"end":28},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A15","pred":"ID:","subj":"T15","obj":"D010013"},{"subj":"T15","pred":"source","obj":"LitCoin-MeSH-Disease-2"}]},{"project":"LitCoin-MONDO_bioort2019","denotations":[{"id":"T15","span":{"begin":26,"end":28},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A15","pred":"#label","subj":"T15","obj":"D010013"},{"subj":"T15","pred":"source","obj":"LitCoin-MONDO_bioort2019"}]},{"project":"LitCoin-Chemical-MeSH-CHEBI","denotations":[{"id":"T1","span":{"begin":43,"end":50},"obj":"ChemicalEntity"},{"id":"T4","span":{"begin":124,"end":131},"obj":"ChemicalEntity"},{"id":"T5","span":{"begin":182,"end":190},"obj":"ChemicalEntity"}],"attributes":[{"id":"A1","pred":"ID:","subj":"T1","obj":"http://purl.obolibrary.org/obo/CHEBI_57305"},{"id":"A2","pred":"ID:","subj":"T1","obj":"http://purl.obolibrary.org/obo/CHEBI_29947"},{"id":"A3","pred":"ID:","subj":"T1","obj":"http://purl.obolibrary.org/obo/CHEBI_15428"},{"id":"A4","pred":"ID:","subj":"T4","obj":"http://purl.obolibrary.org/obo/CHEBI_46883"},{"id":"A5","pred":"ID:","subj":"T5","obj":"http://purl.obolibrary.org/obo/CHEBI_3815"},{"subj":"T1","pred":"source","obj":"LitCoin-Chemical-MeSH-CHEBI"},{"subj":"T4","pred":"source","obj":"LitCoin-Chemical-MeSH-CHEBI"},{"subj":"T5","pred":"source","obj":"LitCoin-Chemical-MeSH-CHEBI"}]},{"project":"LitCoin-NCBITaxon-2","denotations":[{"id":"T3","span":{"begin":16,"end":24},"obj":"OrganismTaxon"}],"attributes":[{"subj":"T3","pred":"source","obj":"LitCoin-NCBITaxon-2"}]},{"project":"LitCoin-training-merged","denotations":[{"id":"T5","span":{"begin":182,"end":190},"obj":"ChemicalEntity"},{"id":"T4","span":{"begin":124,"end":131},"obj":"ChemicalEntity"},{"id":"T1","span":{"begin":43,"end":50},"obj":"ChemicalEntity"},{"id":"T3","span":{"begin":182,"end":211},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":86,"end":92},"obj":"GeneOrGeneProduct"},{"id":"T15","span":{"begin":26,"end":28},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T12992","span":{"begin":16,"end":24},"obj":"OrganismTaxon"}],"attributes":[{"id":"A5","pred":"ID:","subj":"T5","obj":"http://purl.obolibrary.org/obo/CHEBI_3815"},{"id":"A4","pred":"ID:","subj":"T4","obj":"http://purl.obolibrary.org/obo/CHEBI_46883"},{"id":"A3","pred":"ID:","subj":"T1","obj":"http://purl.obolibrary.org/obo/CHEBI_15428"},{"id":"A2","pred":"ID:","subj":"T1","obj":"http://purl.obolibrary.org/obo/CHEBI_29947"},{"id":"A1","pred":"ID:","subj":"T1","obj":"http://purl.obolibrary.org/obo/CHEBI_57305"},{"id":"A15","pred":"#label","subj":"T15","obj":"D010013"},{"subj":"T5","pred":"source","obj":"LitCoin-training-merged"},{"subj":"T4","pred":"source","obj":"LitCoin-training-merged"},{"subj":"T1","pred":"source","obj":"LitCoin-training-merged"},{"subj":"T3","pred":"source","obj":"LitCoin-training-merged"},{"subj":"T2","pred":"source","obj":"LitCoin-training-merged"},{"subj":"T15","pred":"source","obj":"LitCoin-training-merged"},{"subj":"T12992","pred":"source","obj":"LitCoin-training-merged"}]},{"project":"sentences","denotations":[{"id":"TextSentencer_T5","span":{"begin":0,"end":212},"obj":"Sentence"},{"id":"T5","span":{"begin":0,"end":212},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"attributes":[{"subj":"TextSentencer_T5","pred":"source","obj":"sentences"},{"subj":"T5","pred":"source","obj":"sentences"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"LitCoin-sentences","color":"#93ecbd","default":true},{"id":"LitCoin-entities","color":"#eca393"},{"id":"LitCoin-GeneOrGeneProduct-v0","color":"#939cec"},{"id":"LitCoin-GeneOrGeneProduct-v2","color":"#b6ec93"},{"id":"LitCoin-Disease-MeSH","color":"#ec93d0"},{"id":"LitCoin-GeneOrGeneProduct-v3","color":"#93eaec"},{"id":"LitCoin_Mondo_095","color":"#ecd493"},{"id":"LitCoin-MeSH-Disease-2","color":"#b993ec"},{"id":"LitCoin-MONDO_bioort2019","color":"#93ec9f"},{"id":"LitCoin-Chemical-MeSH-CHEBI","color":"#ec93a0"},{"id":"LitCoin-NCBITaxon-2","color":"#93baec"},{"id":"LitCoin-training-merged","color":"#d4ec93"},{"id":"sentences","color":"#ea93ec"}]}]}}