PubMed:18470323 / 0-138
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/18470323","sourcedb":"PubMed","sourceid":"18470323","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/18470323","text":"Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.\nPURPOSE: To report the clinical, ","tracks":[{"project":"test-210614","denotations":[{"id":"18470323_0","span":{"begin":63,"end":68},"obj":"ProteinMutation"}],"attributes":[{"id":"18470323_0_ProteinMutation","pred":"proteinmutation","subj":"18470323_0","obj":"rs121909210"},{"subj":"18470323_0","pred":"source","obj":"test-210614"}]},{"project":"PubTator4TogoVar","denotations":[{"id":"18470323_0","span":{"begin":63,"end":68},"obj":"ProteinMutation"}],"attributes":[{"id":"18470323_0_ProteinMutation","pred":"proteinmutation","subj":"18470323_0","obj":"rs121909210"},{"subj":"18470323_0","pred":"source","obj":"PubTator4TogoVar"}]},{"project":"LitCoin-sentences","denotations":[{"id":"T1","span":{"begin":0,"end":104},"obj":"Sentence"},{"id":"T2","span":{"begin":105,"end":113},"obj":"Sentence"}],"attributes":[{"subj":"T1","pred":"source","obj":"LitCoin-sentences"},{"subj":"T2","pred":"source","obj":"LitCoin-sentences"}]},{"project":"LitCoin-entities","denotations":[{"id":"5076","span":{"begin":25,"end":57},"obj":"DiseaseOrPhenotypicFeature"},{"id":"5077","span":{"begin":63,"end":68},"obj":"SequenceVariant"},{"id":"5078","span":{"begin":85,"end":90},"obj":"GeneOrGeneProduct"},{"id":"5079","span":{"begin":92,"end":97},"obj":"GeneOrGeneProduct"}],"attributes":[{"id":"A1","pred":"db_id","subj":"5076","obj":"MESH:C537881"},{"id":"A2","pred":"db_id","subj":"5077","obj":"DBSNP:rs121909210"},{"id":"A3","pred":"db_id","subj":"5078","obj":"NCBIGene:7045"},{"id":"A4","pred":"db_id","subj":"5079","obj":"NCBIGene:7045"},{"subj":"5076","pred":"source","obj":"LitCoin-entities"},{"subj":"5077","pred":"source","obj":"LitCoin-entities"},{"subj":"5078","pred":"source","obj":"LitCoin-entities"},{"subj":"5079","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_Mondo","denotations":[{"id":"T1","span":{"begin":25,"end":57},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":25,"end":50},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":33,"end":50},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0007380"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0004686"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0018102"},{"subj":"T1","pred":"source","obj":"LitCoin_Mondo"},{"subj":"T2","pred":"source","obj":"LitCoin_Mondo"},{"subj":"T3","pred":"source","obj":"LitCoin_Mondo"}]},{"project":"LitCoin-SeqVar","denotations":[{"id":"T1","span":{"begin":63,"end":68},"obj":"SequenceVariant"}],"attributes":[{"subj":"T1","pred":"source","obj":"LitCoin-SeqVar"}]},{"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T1","span":{"begin":51,"end":57},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":85,"end":90},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":92,"end":97},"obj":"GeneOrGeneProduct"}],"attributes":[{"subj":"T1","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v2"},{"subj":"T2","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v2"},{"subj":"T3","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v2"}]},{"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T1","span":{"begin":51,"end":57},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":69,"end":77},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":85,"end":90},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":92,"end":97},"obj":"GeneOrGeneProduct"}],"attributes":[{"subj":"T1","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T2","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T3","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T4","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"}]},{"project":"LitCoin-Disease-MeSH","denotations":[{"id":"T1","span":{"begin":33,"end":50},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"originalLabel","subj":"T1","obj":"D003317"},{"subj":"T1","pred":"source","obj":"LitCoin-Disease-MeSH"}]},{"project":"LitCoin-GeneOrGeneProduct-v3","denotations":[{"id":"T1","span":{"begin":85,"end":90},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":92,"end":97},"obj":"GeneOrGeneProduct"}],"attributes":[{"subj":"T1","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v3"},{"subj":"T2","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v3"}]},{"project":"LitCoin_Mondo_095","denotations":[{"id":"T1","span":{"begin":25,"end":57},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0007380"},{"subj":"T1","pred":"source","obj":"LitCoin_Mondo_095"}]},{"project":"PMID_GLOBAL","denotations":[{"id":"T1","span":{"begin":25,"end":57},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0007380"},{"subj":"T1","pred":"source","obj":"PMID_GLOBAL"}]},{"project":"LitCoin-MeSH-Disease-2","denotations":[{"id":"T1","span":{"begin":33,"end":50},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"ID:","subj":"T1","obj":"D003317"},{"subj":"T1","pred":"source","obj":"LitCoin-MeSH-Disease-2"}]},{"project":"LitCoin-MONDO_bioort2019","denotations":[{"id":"T1","span":{"begin":25,"end":57},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"#label","subj":"T1","obj":"C537881"},{"subj":"T1","pred":"source","obj":"LitCoin-MONDO_bioort2019"}]},{"project":"LitCoin-training-merged","denotations":[{"id":"T2","span":{"begin":92,"end":97},"obj":"GeneOrGeneProduct"},{"id":"T55442","span":{"begin":85,"end":90},"obj":"GeneOrGeneProduct"},{"id":"T50708","span":{"begin":25,"end":57},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T23491","span":{"begin":63,"end":68},"obj":"SequenceVariant"}],"attributes":[{"id":"A64756","pred":"#label","subj":"T50708","obj":"C537881"},{"subj":"T2","pred":"source","obj":"LitCoin-training-merged"},{"subj":"T55442","pred":"source","obj":"LitCoin-training-merged"},{"subj":"T50708","pred":"source","obj":"LitCoin-training-merged"},{"subj":"T23491","pred":"source","obj":"LitCoin-training-merged"}]},{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":104},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":105,"end":113},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":104},"obj":"Sentence"},{"id":"T2","span":{"begin":105,"end":113},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"attributes":[{"subj":"TextSentencer_T1","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T2","pred":"source","obj":"sentences"},{"subj":"T1","pred":"source","obj":"sentences"},{"subj":"T2","pred":"source","obj":"sentences"}]},{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":85,"end":90},"obj":"gene:7045"},{"id":"T1","span":{"begin":25,"end":57},"obj":"disease:C1690006"},{"id":"T2","span":{"begin":92,"end":97},"obj":"gene:7045"},{"id":"T3","span":{"begin":25,"end":57},"obj":"disease:C1690006"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"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/"}],"attributes":[{"subj":"T0","pred":"source","obj":"DisGeNET"},{"subj":"T1","pred":"source","obj":"DisGeNET"},{"subj":"T2","pred":"source","obj":"DisGeNET"},{"subj":"T3","pred":"source","obj":"DisGeNET"}]},{"project":"DisGeNET5_variant_disease","denotations":[{"id":"18470323-0#63#68#geners121909210","span":{"begin":63,"end":68},"obj":"geners121909210"},{"id":"18470323-0#25#57#diseaseC1690006","span":{"begin":25,"end":57},"obj":"diseaseC1690006"}],"relations":[{"id":"63#68#geners12190921025#57#diseaseC1690006","pred":"associated_with","subj":"18470323-0#63#68#geners121909210","obj":"18470323-0#25#57#diseaseC1690006"}],"attributes":[{"subj":"18470323-0#63#68#geners121909210","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"18470323-0#25#57#diseaseC1690006","pred":"source","obj":"DisGeNET5_variant_disease"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"18470323-0#85#90#gene7045","span":{"begin":85,"end":90},"obj":"gene7045"},{"id":"18470323-0#92#97#gene7045","span":{"begin":92,"end":97},"obj":"gene7045"},{"id":"18470323-0#25#57#diseaseC1690006","span":{"begin":25,"end":57},"obj":"diseaseC1690006"}],"relations":[{"id":"85#90#gene704525#57#diseaseC1690006","pred":"associated_with","subj":"18470323-0#85#90#gene7045","obj":"18470323-0#25#57#diseaseC1690006"},{"id":"92#97#gene704525#57#diseaseC1690006","pred":"associated_with","subj":"18470323-0#92#97#gene7045","obj":"18470323-0#25#57#diseaseC1690006"}],"attributes":[{"subj":"18470323-0#85#90#gene7045","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"18470323-0#92#97#gene7045","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"18470323-0#25#57#diseaseC1690006","pred":"source","obj":"DisGeNET5_gene_disease"}]},{"project":"PubCasesHPO","denotations":[{"id":"TI1","span":{"begin":25,"end":50},"obj":"HP:0001149"}],"attributes":[{"subj":"TI1","pred":"source","obj":"PubCasesHPO"}]},{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":25,"end":57},"obj":"ORDO:98964"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"attributes":[{"subj":"TI1","pred":"source","obj":"PubCasesORDO"}]},{"project":"tmVarCorpus","denotations":[{"id":"T1","span":{"begin":63,"end":68},"obj":"ProteinMutation:p|SUB|R|124|C"}],"attributes":[{"subj":"T1","pred":"source","obj":"tmVarCorpus"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"test-210614","color":"#b0ec93","default":true},{"id":"PubTator4TogoVar","color":"#ec93ca"},{"id":"LitCoin-sentences","color":"#93e4ec"},{"id":"LitCoin-entities","color":"#ecda93"},{"id":"LitCoin_Mondo","color":"#c093ec"},{"id":"LitCoin-SeqVar","color":"#93eca6"},{"id":"LitCoin-GeneOrGeneProduct-v2","color":"#ec939a"},{"id":"LitCoin-GeneOrGeneProduct-v0","color":"#93b4ec"},{"id":"LitCoin-Disease-MeSH","color":"#ceec93"},{"id":"LitCoin-GeneOrGeneProduct-v3","color":"#ec93e8"},{"id":"LitCoin_Mondo_095","color":"#93ecd6"},{"id":"PMID_GLOBAL","color":"#ecbc93"},{"id":"LitCoin-MeSH-Disease-2","color":"#a293ec"},{"id":"LitCoin-MONDO_bioort2019","color":"#9eec93"},{"id":"LitCoin-training-merged","color":"#ec93b8"},{"id":"sentences","color":"#93d2ec"},{"id":"DisGeNET","color":"#ecec93"},{"id":"DisGeNET5_variant_disease","color":"#d293ec"},{"id":"DisGeNET5_gene_disease","color":"#93ecb8"},{"id":"PubCasesHPO","color":"#ec9e93"},{"id":"PubCasesORDO","color":"#93a1ec"},{"id":"tmVarCorpus","color":"#bbec93"}]}]}}