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PubMed:10419498 / 132-286 JSON TXT

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PubmedHPO

Id	Subject	Object	Predicate	Lexical cue
T1	108-126	HP_0000006	denotes	autosomal dominant
T2	145-153	HP_0003198	denotes	myopathy

DisGeNET5_gene_disease

Id	Subject	Object	Predicate	Lexical cue
10419498-1#79#85#gene1293	79-85	gene1293	denotes	COL6A3
10419498-1#108#135#diseaseC3899989	108-135	diseaseC3899989	denotes	autosomal dominant disorder
79#85#gene1293108#135#diseaseC3899989	10419498-1#79#85#gene1293	10419498-1#108#135#diseaseC3899989	associated_with	COL6A3,autosomal dominant disorder

PubCasesHPO

Id	Subject	Object	Predicate	Lexical cue
AB1	145-153	HP:0003198	denotes	myopathy

PubCasesORDO

Id	Subject	Object	Predicate	Lexical cue
AB1	137-153	ORDO:610	denotes	Bethlem myopathy

sentences

Id	Subject	Object	Predicate	Lexical cue
TextSentencer_T2	0-154	Sentence	denotes	Mutations in the genes that code for collagen VI subunits, COL6A1, COL6A2, and COL6A3, are the cause of the autosomal dominant disorder, Bethlem myopathy.
T2	0-154	Sentence	denotes	Mutations in the genes that code for collagen VI subunits, COL6A1, COL6A2, and COL6A3, are the cause of the autosomal dominant disorder, Bethlem myopathy.

HP-phenotype

Id	Subject	Object	Predicate	Lexical cue	hp_id
T2	145-153	Phenotype	denotes	myopathy	HP:0003198

mondo_disease

Id	Subject	Object	Predicate	Lexical cue	mondo_id
T3	137-153	Disease	denotes	Bethlem myopathy	http://purl.obolibrary.org/obo/MONDO_0008029\|http://purl.obolibrary.org/obo/MONDO_0024530