PubMed:20846357 / 1823-1949
Annnotations
LitCoin-sentences
{"project":"LitCoin-sentences","denotations":[{"id":"T19","span":{"begin":0,"end":126},"obj":"Sentence"}],"text":"This study has identified a new heterozygous de novo mutation in the Cx26 gene (c.263C\u003eT; p.Ala88Val) leading to KID syndrome."}
LitCoin-entities
{"project":"LitCoin-entities","denotations":[{"id":"8084","span":{"begin":69,"end":73},"obj":"GeneOrGeneProduct"},{"id":"8085","span":{"begin":80,"end":88},"obj":"SequenceVariant"},{"id":"8086","span":{"begin":90,"end":100},"obj":"SequenceVariant"},{"id":"8087","span":{"begin":113,"end":125},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A32","pred":"db_id","subj":"8084","obj":"NCBIGene:2706"},{"id":"A33","pred":"db_id","subj":"8085","obj":"c|SUB|C|263|T"},{"id":"A34","pred":"db_id","subj":"8086","obj":"p|SUB|A|88|V"},{"id":"A35","pred":"db_id","subj":"8087","obj":"MESH:C536168"}],"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":"This study has identified a new heterozygous de novo mutation in the Cx26 gene (c.263C\u003eT; p.Ala88Val) leading to KID syndrome."}
LitCoin_Mondo
{"project":"LitCoin_Mondo","denotations":[{"id":"T17","span":{"begin":113,"end":125},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A17","pred":"mondo_id","subj":"T17","obj":"0018781"}],"text":"This study has identified a new heterozygous de novo mutation in the Cx26 gene (c.263C\u003eT; p.Ala88Val) leading to KID syndrome."}
LitCoin-SeqVar
{"project":"LitCoin-SeqVar","denotations":[{"id":"T4","span":{"begin":80,"end":88},"obj":"SequenceVariant"},{"id":"T5","span":{"begin":90,"end":100},"obj":"SequenceVariant"}],"text":"This study has identified a new heterozygous de novo mutation in the Cx26 gene (c.263C\u003eT; p.Ala88Val) leading to KID syndrome."}
LitCoin-GeneOrGeneProduct-v0
{"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T38","span":{"begin":53,"end":61},"obj":"GeneOrGeneProduct"},{"id":"T39","span":{"begin":69,"end":73},"obj":"GeneOrGeneProduct"},{"id":"T40","span":{"begin":117,"end":125},"obj":"GeneOrGeneProduct"}],"text":"This study has identified a new heterozygous de novo mutation in the Cx26 gene (c.263C\u003eT; p.Ala88Val) leading to KID syndrome."}
LitCoin-GeneOrGeneProduct-v2
{"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T25","span":{"begin":69,"end":73},"obj":"GeneOrGeneProduct"},{"id":"T26","span":{"begin":117,"end":125},"obj":"GeneOrGeneProduct"}],"text":"This study has identified a new heterozygous de novo mutation in the Cx26 gene (c.263C\u003eT; p.Ala88Val) leading to KID syndrome."}
LitCoin-Disease-MeSH
{"project":"LitCoin-Disease-MeSH","denotations":[{"id":"T15","span":{"begin":113,"end":125},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A15","pred":"originalLabel","subj":"T15","obj":"C536168"}],"text":"This study has identified a new heterozygous de novo mutation in the Cx26 gene (c.263C\u003eT; p.Ala88Val) leading to KID syndrome."}
LitCoin-GeneOrGeneProduct-v3
{"project":"LitCoin-GeneOrGeneProduct-v3","denotations":[{"id":"T10","span":{"begin":69,"end":73},"obj":"GeneOrGeneProduct"}],"text":"This study has identified a new heterozygous de novo mutation in the Cx26 gene (c.263C\u003eT; p.Ala88Val) leading to KID syndrome."}
LitCoin_Mondo_095
{"project":"LitCoin_Mondo_095","denotations":[{"id":"T20","span":{"begin":113,"end":125},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A20","pred":"mondo_id","subj":"T20","obj":"0018781"}],"text":"This study has identified a new heterozygous de novo mutation in the Cx26 gene (c.263C\u003eT; p.Ala88Val) leading to KID syndrome."}
LitCoin-MeSH-Disease-2
{"project":"LitCoin-MeSH-Disease-2","denotations":[{"id":"T21","span":{"begin":113,"end":125},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A21","pred":"ID:","subj":"T21","obj":"C536168"}],"text":"This study has identified a new heterozygous de novo mutation in the Cx26 gene (c.263C\u003eT; p.Ala88Val) leading to KID syndrome."}
LitCoin-MONDO_bioort2019
{"project":"LitCoin-MONDO_bioort2019","denotations":[{"id":"T20","span":{"begin":113,"end":125},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A20","pred":"#label","subj":"T20","obj":"C536168"}],"text":"This study has identified a new heterozygous de novo mutation in the Cx26 gene (c.263C\u003eT; p.Ala88Val) leading to KID syndrome."}
LitCoin-training-merged
{"project":"LitCoin-training-merged","denotations":[{"id":"T10","span":{"begin":69,"end":73},"obj":"GeneOrGeneProduct"},{"id":"T20","span":{"begin":113,"end":125},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T42879","span":{"begin":90,"end":100},"obj":"SequenceVariant"},{"id":"T46122","span":{"begin":80,"end":88},"obj":"SequenceVariant"}],"attributes":[{"id":"A20","pred":"#label","subj":"T20","obj":"C536168"}],"text":"This study has identified a new heterozygous de novo mutation in the Cx26 gene (c.263C\u003eT; p.Ala88Val) leading to KID syndrome."}
sentences
{"project":"sentences","denotations":[{"id":"TextSentencer_T19","span":{"begin":0,"end":126},"obj":"Sentence"},{"id":"T19","span":{"begin":0,"end":126},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"This study has identified a new heterozygous de novo mutation in the Cx26 gene (c.263C\u003eT; p.Ala88Val) leading to KID syndrome."}
PubCasesORDO
{"project":"PubCasesORDO","denotations":[{"id":"AB4","span":{"begin":113,"end":125},"obj":"ORDO:477"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"This study has identified a new heterozygous de novo mutation in the Cx26 gene (c.263C\u003eT; p.Ala88Val) leading to KID syndrome."}
tmVarCorpus
{"project":"tmVarCorpus","denotations":[{"id":"T4","span":{"begin":80,"end":88},"obj":"DNAMutation:c|SUB|C|263|T"},{"id":"T5","span":{"begin":90,"end":100},"obj":"ProteinMutation:p|SUB|A|88|V"}],"text":"This study has identified a new heterozygous de novo mutation in the Cx26 gene (c.263C\u003eT; p.Ala88Val) leading to KID syndrome."}