PubMed:22453924 / 0-131
Annnotations
sentences
{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":131},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":131},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy."}
DisGeNET
{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":44,"end":54},"obj":"gene:1756"},{"id":"T1","span":{"begin":105,"end":130},"obj":"disease:C0917713"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy."}
DisGeNET5_gene_disease
{"project":"DisGeNET5_gene_disease","denotations":[{"id":"22453924-0#44#54#gene1756","span":{"begin":44,"end":54},"obj":"gene1756"},{"id":"22453924-0#105#130#diseaseC0917713","span":{"begin":105,"end":130},"obj":"diseaseC0917713"}],"relations":[{"id":"44#54#gene1756105#130#diseaseC0917713","pred":"associated_with","subj":"22453924-0#44#54#gene1756","obj":"22453924-0#105#130#diseaseC0917713"}],"text":"Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy."}
UBERON-AE
{"project":"UBERON-AE","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":55,"end":62},"obj":"http://purl.obolibrary.org/obo/UBERON_0012131"}],"text":"Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy."}
PubCasesHPO
{"project":"PubCasesHPO","denotations":[{"id":"TI1","span":{"begin":112,"end":130},"obj":"HP:0003560"}],"text":"Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy."}
performance-test
{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T2","span":{"begin":55,"end":62},"obj":"http://purl.obolibrary.org/obo/UBERON_0012131"}],"text":"Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy."}
PubCasesORDO
{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":105,"end":130},"obj":"ORDO:98895"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy."}
mondo_disease
{"project":"mondo_disease","denotations":[{"id":"T1","span":{"begin":105,"end":130},"obj":"Disease"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0010311"}],"text":"Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy."}
HP-phenotype
{"project":"HP-phenotype","denotations":[{"id":"T1","span":{"begin":112,"end":130},"obj":"Phenotype"}],"attributes":[{"id":"A1","pred":"hp_id","subj":"T1","obj":"HP:0003560"}],"namespaces":[{"prefix":"HP","uri":"http://purl.obolibrary.org/obo/HP_"}],"text":"Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy."}