PubMed:16832093 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/16832093","sourcedb":"PubMed","sourceid":"16832093","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/16832093","text":"Hyperekplexia in Kurdish families: a possible GLRA1 founder mutation.\nAutosomal recessive hyperekplexia is due to loss-of-function mutations in the GLRA1 gene. The authors describe six patients from two consanguineous families with a homozygous deletion of the first seven GLRA1 exons and provide evidence of a founder effect in Kurds from Turkey. Hyperekplexia may be misdiagnosed as epilepsy.","tracks":[{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":70,"end":89},"obj":"HP_0000007"}],"attributes":[{"subj":"T1","pred":"source","obj":"PubmedHPO"}]},{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":46,"end":51},"obj":"gene:2741"},{"id":"T1","span":{"begin":0,"end":13},"obj":"disease:C0234166"},{"id":"T2","span":{"begin":46,"end":51},"obj":"gene:2741"},{"id":"T3","span":{"begin":0,"end":13},"obj":"disease:C0085292"},{"id":"T4","span":{"begin":148,"end":153},"obj":"gene:2741"},{"id":"T5","span":{"begin":90,"end":103},"obj":"disease:C0234166"},{"id":"T6","span":{"begin":148,"end":153},"obj":"gene:2741"},{"id":"T7","span":{"begin":90,"end":103},"obj":"disease:C0085292"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"},{"id":"R4","pred":"associated_with","subj":"T6","obj":"T7"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"attributes":[{"subj":"T0","pred":"source","obj":"DisGeNET"},{"subj":"T1","pred":"source","obj":"DisGeNET"},{"subj":"T2","pred":"source","obj":"DisGeNET"},{"subj":"T3","pred":"source","obj":"DisGeNET"},{"subj":"T4","pred":"source","obj":"DisGeNET"},{"subj":"T5","pred":"source","obj":"DisGeNET"},{"subj":"T6","pred":"source","obj":"DisGeNET"},{"subj":"T7","pred":"source","obj":"DisGeNET"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"16832093-0#46#51#gene2741","span":{"begin":46,"end":51},"obj":"gene2741"},{"id":"16832093-0#0#13#diseaseC0085292","span":{"begin":0,"end":13},"obj":"diseaseC0085292"},{"id":"16832093-0#0#13#diseaseC0234166","span":{"begin":0,"end":13},"obj":"diseaseC0234166"}],"relations":[{"id":"46#51#gene27410#13#diseaseC0085292","pred":"associated_with","subj":"16832093-0#46#51#gene2741","obj":"16832093-0#0#13#diseaseC0085292"},{"id":"46#51#gene27410#13#diseaseC0234166","pred":"associated_with","subj":"16832093-0#46#51#gene2741","obj":"16832093-0#0#13#diseaseC0234166"}],"attributes":[{"subj":"16832093-0#46#51#gene2741","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"16832093-0#0#13#diseaseC0085292","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"16832093-0#0#13#diseaseC0234166","pred":"source","obj":"DisGeNET5_gene_disease"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"PubmedHPO","color":"#a793ec","default":true},{"id":"DisGeNET","color":"#98ec93"},{"id":"DisGeNET5_gene_disease","color":"#ec93b2"}]}]}}