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PubMed:11278977 / 0-181 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-181 Sentence denotes COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II.
T1 0-181 Sentence denotes COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II.

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
11278977-0#0#6#gene1289 0-6 gene1289 denotes COL5A1
11278977-0#155#177#diseaseC0013720 155-177 diseaseC0013720 denotes Ehlers-Danlos syndrome
0#6#gene1289155#177#diseaseC0013720 11278977-0#0#6#gene1289 11278977-0#155#177#diseaseC0013720 associated_with COL5A1,Ehlers-Danlos syndrome

DisGeNET

Id Subject Object Predicate Lexical cue
T0 0-6 gene:1289 denotes COL5A1
T1 155-177 disease:C0013720 denotes Ehlers-Danlos syndrome
T2 95-102 gene:146 denotes alpha 1
T3 155-177 disease:C0013720 denotes Ehlers-Danlos syndrome
R1 T0 T1 associated_with COL5A1,Ehlers-Danlos syndrome
R2 T2 T3 associated_with alpha 1,Ehlers-Danlos syndrome

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 155-177 Disease denotes Ehlers-Danlos syndrome http://purl.obolibrary.org/obo/MONDO_0020066