PubMed:18945288 / 0-129
Annnotations
LitCoin-sentences
{"project":"LitCoin-sentences","denotations":[{"id":"T1","span":{"begin":0,"end":72},"obj":"Sentence"}],"text":"R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE.\nThis study was conducted to determine the prevalence of "}
LitCoin-entities
{"project":"LitCoin-entities","denotations":[{"id":"5523","span":{"begin":0,"end":5},"obj":"SequenceVariant"},{"id":"5524","span":{"begin":22,"end":25},"obj":"GeneOrGeneProduct"},{"id":"5525","span":{"begin":48,"end":60},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"db_id","subj":"5523","obj":"p|FS|R|58||"},{"id":"A2","pred":"db_id","subj":"5524","obj":"NCBIGene:3081"},{"id":"A3","pred":"db_id","subj":"5525","obj":"MESH:D000474"}],"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":"R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE.\nThis study was conducted to determine the prevalence of "}
LitCoin_Mondo
{"project":"LitCoin_Mondo","denotations":[{"id":"T1","span":{"begin":48,"end":60},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0008753"}],"text":"R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE.\nThis study was conducted to determine the prevalence of "}
LitCoin-SeqVar
{"project":"LitCoin-SeqVar","denotations":[{"id":"T1","span":{"begin":0,"end":5},"obj":"SequenceVariant"}],"text":"R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE.\nThis study was conducted to determine the prevalence of "}
LitCoin-GeneOrGeneProduct-v2
{"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T1","span":{"begin":48,"end":60},"obj":"GeneOrGeneProduct"}],"text":"R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE.\nThis study was conducted to determine the prevalence of "}
LitCoin-GeneOrGeneProduct-v0
{"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T1","span":{"begin":6,"end":14},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":26,"end":35},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":48,"end":60},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":101,"end":110},"obj":"GeneOrGeneProduct"}],"text":"R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE.\nThis study was conducted to determine the prevalence of "}
LitCoin-Disease-MeSH
{"project":"LitCoin-Disease-MeSH","denotations":[{"id":"T1","span":{"begin":48,"end":60},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"originalLabel","subj":"T1","obj":"D000474"}],"text":"R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE.\nThis study was conducted to determine the prevalence of "}
LitCoin_Mondo_095
{"project":"LitCoin_Mondo_095","denotations":[{"id":"T1","span":{"begin":48,"end":60},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0008753"}],"text":"R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE.\nThis study was conducted to determine the prevalence of "}
LitCoin-MeSH-Disease-2
{"project":"LitCoin-MeSH-Disease-2","denotations":[{"id":"T1","span":{"begin":48,"end":60},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"ID:","subj":"T1","obj":"D000474"}],"text":"R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE.\nThis study was conducted to determine the prevalence of "}
LitCoin-MONDO_bioort2019
{"project":"LitCoin-MONDO_bioort2019","denotations":[{"id":"T1","span":{"begin":48,"end":60},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"#label","subj":"T1","obj":"D000474"}],"text":"R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE.\nThis study was conducted to determine the prevalence of "}
LitCoin-training-merged
{"project":"LitCoin-training-merged","denotations":[{"id":"T63171","span":{"begin":48,"end":60},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T18244","span":{"begin":0,"end":5},"obj":"SequenceVariant"}],"attributes":[{"id":"A13196","pred":"#label","subj":"T63171","obj":"D000474"}],"text":"R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE.\nThis study was conducted to determine the prevalence of "}
DisGeNET5_gene_disease
{"project":"DisGeNET5_gene_disease","denotations":[{"id":"18945288-0#22#25#gene3081","span":{"begin":22,"end":25},"obj":"gene3081"},{"id":"18945288-0#48#60#diseaseC0002066","span":{"begin":48,"end":60},"obj":"diseaseC0002066"}],"relations":[{"id":"22#25#gene308148#60#diseaseC0002066","pred":"associated_with","subj":"18945288-0#22#25#gene3081","obj":"18945288-0#48#60#diseaseC0002066"}],"text":"R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE.\nThis study was conducted to determine the prevalence of "}
tmVarCorpus
{"project":"tmVarCorpus","denotations":[{"id":"T1","span":{"begin":0,"end":5},"obj":"ProteinMutation:p|FS|R|58||"}],"text":"R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE.\nThis study was conducted to determine the prevalence of "}