PubMed:20106987 / 0-215
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.\nUllrich congenital muscular dystrophy (UCMD) is a disabling and life-threatening disorder resu"}
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.\nUllrich congenital muscular dystrophy (UCMD) is a disabling and life-threatening disorder resu"}
PubmedHPO
{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":129,"end":158},"obj":"HP_0003741"},{"id":"T2","span":{"begin":140,"end":158},"obj":"HP_0003560"}],"text":"Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.\nUllrich congenital muscular dystrophy (UCMD) is a disabling and life-threatening disorder resu"}
Allie
{"project":"Allie","denotations":[{"id":"SS1_20106987_1_0","span":{"begin":121,"end":158},"obj":"expanded"},{"id":"SS2_20106987_1_0","span":{"begin":160,"end":164},"obj":"abbr"}],"relations":[{"id":"AE1_20106987_1_0","pred":"abbreviatedTo","subj":"SS1_20106987_1_0","obj":"SS2_20106987_1_0"}],"text":"Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.\nUllrich congenital muscular dystrophy (UCMD) is a disabling and life-threatening disorder resu"}
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.\nUllrich congenital muscular dystrophy (UCMD) is a disabling and life-threatening disorder resu"}
PubCasesHPO
{"project":"PubCasesHPO","denotations":[{"id":"AB1","span":{"begin":129,"end":158},"obj":"HP:0003741"},{"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.\nUllrich congenital muscular dystrophy (UCMD) is a disabling and life-threatening disorder resu"}
mondo_disease
{"project":"mondo_disease","denotations":[{"id":"T1","span":{"begin":50,"end":87},"obj":"Disease"},{"id":"T3","span":{"begin":121,"end":158},"obj":"Disease"},{"id":"T5","span":{"begin":160,"end":164},"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"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/MONDO_0000355"},{"id":"A4","pred":"mondo_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/MONDO_0009681"},{"id":"A5","pred":"mondo_id","subj":"T5","obj":"http://purl.obolibrary.org/obo/MONDO_0000355"}],"text":"Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.\nUllrich congenital muscular dystrophy (UCMD) is a disabling and life-threatening disorder resu"}
HP-phenotype
{"project":"HP-phenotype","denotations":[{"id":"T1","span":{"begin":58,"end":87},"obj":"Phenotype"},{"id":"T2","span":{"begin":129,"end":158},"obj":"Phenotype"}],"attributes":[{"id":"A1","pred":"hp_id","subj":"T1","obj":"HP:0003560"},{"id":"A2","pred":"hp_id","subj":"T2","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.\nUllrich congenital muscular dystrophy (UCMD) is a disabling and life-threatening disorder resu"}