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PubMed:10419498 / 0-244 JSONTXT

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DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10419498-1#79#85#gene1293 211-217 gene1293 denotes COL6A3

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 8-16 HP:0003198 denotes myopathy

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 0-16 ORDO:610 denotes Bethlem myopathy

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-131 Sentence denotes Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion.
T1 0-131 Sentence denotes Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion.

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 8-16 Phenotype denotes myopathy HP:0003198

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 0-16 Disease denotes Bethlem myopathy http://purl.obolibrary.org/obo/MONDO_0008029|http://purl.obolibrary.org/obo/MONDO_0024530

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 77-90 Body_part denotes intracellular http://purl.obolibrary.org/obo/GO_0005622