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PubMed:1556139 / 0-272 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
T1 0-217 Sentence denotes A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII.
T1 0-217 Sentence denotes A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII.

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
1556139-0#67#73#gene1278 67-73 gene1278 denotes COL1A2
1556139-0#148#166#gene1278 148-166 gene1278 denotes type I procollagen
1556139-0#185#216#diseaseC0268345 185-216 diseaseC0268345 denotes Ehlers-Danlos syndrome type VII
67#73#gene1278185#216#diseaseC0268345 1556139-0#67#73#gene1278 1556139-0#185#216#diseaseC0268345 associated_with COL1A2,Ehlers-Danlos syndrome type VII
148#166#gene1278185#216#diseaseC0268345 1556139-0#148#166#gene1278 1556139-0#185#216#diseaseC0268345 associated_with type I procollagen,Ehlers-Danlos syndrome type VII

DisGeNET

Id Subject Object Predicate Lexical cue
T0 67-73 gene:1278 denotes COL1A2
T1 185-207 disease:C0013720 denotes Ehlers-Danlos syndrome
T2 148-166 gene:1278 denotes type I procollagen
T3 185-207 disease:C0013720 denotes Ehlers-Danlos syndrome
R1 T0 T1 associated_with COL1A2,Ehlers-Danlos syndrome
R2 T2 T3 associated_with type I procollagen,Ehlers-Danlos syndrome

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 185-216 Disease denotes Ehlers-Danlos syndrome type VII http://purl.obolibrary.org/obo/MONDO_0007525

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 172-179 OrganismTaxon denotes patient 9606
T2 250-257 OrganismTaxon denotes patient 9606

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 148-154 Cell denotes type I http://purl.obolibrary.org/obo/CL:0004120|http://purl.obolibrary.org/obo/CL:0004138
T3 229-235 Cell denotes type I http://purl.obolibrary.org/obo/CL:0004120|http://purl.obolibrary.org/obo/CL:0004138