PubMed:20106987 / 0-120
Annnotations
sentences
{"project":"sentences","denotations":[{"id":"T1","span":{"begin":0,"end":120},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant."}
DisGeNET
{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":10,"end":16},"obj":"gene:1292"},{"id":"T1","span":{"begin":50,"end":87},"obj":"disease:C0410179"}],"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":"Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant."}
DisGeNET5_gene_disease
{"project":"DisGeNET5_gene_disease","denotations":[{"id":"20106987-0#10#16#gene1292","span":{"begin":10,"end":16},"obj":"gene1292"},{"id":"20106987-0#50#87#diseaseC0410179","span":{"begin":50,"end":87},"obj":"diseaseC0410179"}],"relations":[{"id":"10#16#gene129250#87#diseaseC0410179","pred":"associated_with","subj":"20106987-0#10#16#gene1292","obj":"20106987-0#50#87#diseaseC0410179"}],"text":"Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant."}
PubCasesHPO
{"project":"PubCasesHPO","denotations":[{"id":"TI1","span":{"begin":58,"end":87},"obj":"HP:0003741"}],"text":"Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant."}
mondo_disease
{"project":"mondo_disease","denotations":[{"id":"T1","span":{"begin":50,"end":87},"obj":"Disease"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0000355"},{"id":"A2","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0009681"}],"text":"Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant."}
HP-phenotype
{"project":"HP-phenotype","denotations":[{"id":"T1","span":{"begin":58,"end":87},"obj":"Phenotype"}],"attributes":[{"id":"A1","pred":"hp_id","subj":"T1","obj":"HP:0003560"}],"namespaces":[{"prefix":"HP","uri":"http://purl.obolibrary.org/obo/HP_"}],"text":"Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant."}