PubMed:11278977 / 0-181 JSONTXT

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{"project":"DisGeNET5_gene_disease","denotations":[{"id":"11278977-0#0#6#gene1289","span":{"begin":0,"end":6},"obj":"gene1289"},{"id":"11278977-0#155#177#diseaseC0013720","span":{"begin":155,"end":177},"obj":"diseaseC0013720"}],"relations":[{"id":"0#6#gene1289155#177#diseaseC0013720","pred":"associated_with","subj":"11278977-0#0#6#gene1289","obj":"11278977-0#155#177#diseaseC0013720"}],"text":"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."}

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{"project":"mondo_disease","denotations":[{"id":"T1","span":{"begin":155,"end":177},"obj":"Disease"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0020066"}],"text":"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."}