PubMed:25678012
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/25678012","sourcedb":"PubMed","sourceid":"25678012","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/25678012","text":"Successful transition to sulfonylurea in neonatal diabetes, developmental delay, and seizures (DEND syndrome) due to R50P KCNJ11 mutation.\nMutations in KCNJ11 cause majority of cases of permanent neonatal diabetes (PND). Multiple reports of PND with successful transitioning to oral sulfonylurea had been reported except for those with DEND syndrome. This case report highlights a case of successful sulfonylurea treatment in a patient with DEND syndrome.","tracks":[{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":336,"end":340},"obj":"HP_0011088"},{"id":"T2","span":{"begin":441,"end":445},"obj":"HP_0011088"}],"attributes":[{"subj":"T1","pred":"source","obj":"PubmedHPO"},{"subj":"T2","pred":"source","obj":"PubmedHPO"}]},{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":138},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":139,"end":220},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":221,"end":350},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":351,"end":455},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":138},"obj":"Sentence"},{"id":"T2","span":{"begin":139,"end":220},"obj":"Sentence"},{"id":"T3","span":{"begin":221,"end":350},"obj":"Sentence"},{"id":"T4","span":{"begin":351,"end":455},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"attributes":[{"subj":"TextSentencer_T1","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T2","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T3","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T4","pred":"source","obj":"sentences"},{"subj":"T1","pred":"source","obj":"sentences"},{"subj":"T2","pred":"source","obj":"sentences"},{"subj":"T3","pred":"source","obj":"sentences"},{"subj":"T4","pred":"source","obj":"sentences"}]},{"project":"PubCasesHPO","denotations":[{"id":"TI1","span":{"begin":85,"end":93},"obj":"HP:0001250"}],"attributes":[{"subj":"TI1","pred":"source","obj":"PubCasesHPO"}]},{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":95,"end":108},"obj":"ORDO:79134"},{"id":"AB1","span":{"begin":336,"end":349},"obj":"ORDO:79134"},{"id":"AB2","span":{"begin":441,"end":454},"obj":"ORDO:79134"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"attributes":[{"subj":"TI1","pred":"source","obj":"PubCasesORDO"},{"subj":"AB1","pred":"source","obj":"PubCasesORDO"},{"subj":"AB2","pred":"source","obj":"PubCasesORDO"}]},{"project":"DisGeNET5_variant_disease","denotations":[{"id":"25678012-0#117#121#geners80356611","span":{"begin":117,"end":121},"obj":"geners80356611"},{"id":"25678012-0#85#93#diseaseC0036572","span":{"begin":85,"end":93},"obj":"diseaseC0036572"},{"id":"25678012-0#95#99#diseaseC1853564","span":{"begin":95,"end":99},"obj":"diseaseC1853564"}],"relations":[{"id":"117#121#geners8035661185#93#diseaseC0036572","pred":"associated_with","subj":"25678012-0#117#121#geners80356611","obj":"25678012-0#85#93#diseaseC0036572"},{"id":"117#121#geners8035661195#99#diseaseC1853564","pred":"associated_with","subj":"25678012-0#117#121#geners80356611","obj":"25678012-0#95#99#diseaseC1853564"}],"attributes":[{"subj":"25678012-0#117#121#geners80356611","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"25678012-0#85#93#diseaseC0036572","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"25678012-0#95#99#diseaseC1853564","pred":"source","obj":"DisGeNET5_variant_disease"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"25678012-0#122#128#gene3767","span":{"begin":122,"end":128},"obj":"gene3767"},{"id":"25678012-0#85#93#diseaseC0036572","span":{"begin":85,"end":93},"obj":"diseaseC0036572"},{"id":"25678012-0#95#99#diseaseC1853564","span":{"begin":95,"end":99},"obj":"diseaseC1853564"}],"relations":[{"id":"122#128#gene376785#93#diseaseC0036572","pred":"associated_with","subj":"25678012-0#122#128#gene3767","obj":"25678012-0#85#93#diseaseC0036572"},{"id":"122#128#gene376795#99#diseaseC1853564","pred":"associated_with","subj":"25678012-0#122#128#gene3767","obj":"25678012-0#95#99#diseaseC1853564"}],"attributes":[{"subj":"25678012-0#122#128#gene3767","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"25678012-0#85#93#diseaseC0036572","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"25678012-0#95#99#diseaseC1853564","pred":"source","obj":"DisGeNET5_gene_disease"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"PubmedHPO","color":"#93cbec","default":true},{"id":"sentences","color":"#e5ec93"},{"id":"PubCasesHPO","color":"#d993ec"},{"id":"PubCasesORDO","color":"#93ecbf"},{"id":"DisGeNET5_variant_disease","color":"#eca593"},{"id":"DisGeNET5_gene_disease","color":"#939bec"}]}]}}