PubMed:22453924 / 132-309
Annnotations
sentences
{"project":"sentences","denotations":[{"id":"TextSentencer_T2","span":{"begin":0,"end":177},"obj":"Sentence"},{"id":"T2","span":{"begin":0,"end":177},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Mutations in the dystrophin gene without disruption of the reading frame often lead to Becker muscular dystrophy, but a genotype/phenotype correlation is difficult to establish."}
DisGeNET
{"project":"DisGeNET","denotations":[{"id":"T2","span":{"begin":17,"end":27},"obj":"gene:1756"},{"id":"T3","span":{"begin":87,"end":112},"obj":"disease:C0917713"}],"relations":[{"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/"}],"text":"Mutations in the dystrophin gene without disruption of the reading frame often lead to Becker muscular dystrophy, but a genotype/phenotype correlation is difficult to establish."}
PubmedHPO
{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":94,"end":112},"obj":"HP_0003560"}],"text":"Mutations in the dystrophin gene without disruption of the reading frame often lead to Becker muscular dystrophy, but a genotype/phenotype correlation is difficult to establish."}
PubCasesHPO
{"project":"PubCasesHPO","denotations":[{"id":"AB1","span":{"begin":94,"end":112},"obj":"HP:0003560"}],"text":"Mutations in the dystrophin gene without disruption of the reading frame often lead to Becker muscular dystrophy, but a genotype/phenotype correlation is difficult to establish."}
PubCasesORDO
{"project":"PubCasesORDO","denotations":[{"id":"AB1","span":{"begin":87,"end":112},"obj":"ORDO:98895"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Mutations in the dystrophin gene without disruption of the reading frame often lead to Becker muscular dystrophy, but a genotype/phenotype correlation is difficult to establish."}
mondo_disease
{"project":"mondo_disease","denotations":[{"id":"T2","span":{"begin":87,"end":112},"obj":"Disease"}],"attributes":[{"id":"A2","pred":"mondo_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/MONDO_0010311"}],"text":"Mutations in the dystrophin gene without disruption of the reading frame often lead to Becker muscular dystrophy, but a genotype/phenotype correlation is difficult to establish."}
HP-phenotype
{"project":"HP-phenotype","denotations":[{"id":"T2","span":{"begin":94,"end":112},"obj":"Phenotype"}],"attributes":[{"id":"A2","pred":"hp_id","subj":"T2","obj":"HP:0003560"}],"namespaces":[{"prefix":"HP","uri":"http://purl.obolibrary.org/obo/HP_"}],"text":"Mutations in the dystrophin gene without disruption of the reading frame often lead to Becker muscular dystrophy, but a genotype/phenotype correlation is difficult to establish."}