PubMed:23924083 / 175-232
Annnotations
DisGeNET
{"project":"DisGeNET","denotations":[{"id":"T1","span":{"begin":0,"end":57},"obj":"disease:C2748572"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"epilepsy, ataxia, sensorineural deafness, and tubulopathy"}
PubmedHPO
{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":10,"end":16},"obj":"HP_0001251"},{"id":"T2","span":{"begin":18,"end":40},"obj":"HP_0000407"},{"id":"T3","span":{"begin":32,"end":40},"obj":"HP_0000365"}],"text":"epilepsy, ataxia, sensorineural deafness, and tubulopathy"}
DisGeNET5_gene_disease
{"project":"DisGeNET5_gene_disease","denotations":[{"id":"23924083-1#81#138#diseaseC2748572","span":{"begin":0,"end":57},"obj":"diseaseC2748572"}],"text":"epilepsy, ataxia, sensorineural deafness, and tubulopathy"}
PubCasesHPO
{"project":"PubCasesHPO","denotations":[{"id":"AB1","span":{"begin":10,"end":16},"obj":"HP:0001251"}],"text":"epilepsy, ataxia, sensorineural deafness, and tubulopathy"}