PubMed:10690989 / 0-400 JSONTXT

{"project":"PubMed_Structured_Abstracts","denotations":[{"id":"T1","span":{"begin":106,"end":254},"obj":"OBJECTIVE"}],"text":"Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita.\nOBJECTIVE: To determine the functional consequences of missense mutations within the skeletal muscle chloride channel gene CLCN1 that cause myotonia congenita.\nBACKGROUND: Myotonia congenita is a genetic muscle disease associated with abnormalities in the skeletal muscle voltage-gated chloride (ClC-1) ch"}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":235,"end":243},"obj":"HP_0002486"}],"text":"Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita.\nOBJECTIVE: To determine the functional consequences of missense mutations within the skeletal muscle chloride channel gene CLCN1 that cause myotonia congenita.\nBACKGROUND: Myotonia congenita is a genetic muscle disease associated with abnormalities in the skeletal muscle voltage-gated chloride (ClC-1) ch"}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10690989-0#50#55#gene1180","span":{"begin":50,"end":55},"obj":"gene1180"},{"id":"10690989-0#75#93#diseaseC0027127","span":{"begin":75,"end":93},"obj":"diseaseC0027127"},{"id":"10690989-0#75#93#diseaseC2936781","span":{"begin":75,"end":93},"obj":"diseaseC2936781"},{"id":"10690989-2#124#129#gene1180","span":{"begin":391,"end":396},"obj":"gene1180"},{"id":"10690989-2#32#46#diseaseC0026848","span":{"begin":299,"end":313},"obj":"diseaseC0026848"}],"relations":[{"id":"50#55#gene118075#93#diseaseC0027127","pred":"associated_with","subj":"10690989-0#50#55#gene1180","obj":"10690989-0#75#93#diseaseC0027127"},{"id":"50#55#gene118075#93#diseaseC2936781","pred":"associated_with","subj":"10690989-0#50#55#gene1180","obj":"10690989-0#75#93#diseaseC2936781"},{"id":"124#129#gene118032#46#diseaseC0026848","pred":"associated_with","subj":"10690989-2#124#129#gene1180","obj":"10690989-2#32#46#diseaseC0026848"}],"text":"Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita.\nOBJECTIVE: To determine the functional consequences of missense mutations within the skeletal muscle chloride channel gene CLCN1 that cause myotonia congenita.\nBACKGROUND: Myotonia congenita is a genetic muscle disease associated with abnormalities in the skeletal muscle voltage-gated chloride (ClC-1) ch"}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":218,"end":223},"obj":"gene:1180"},{"id":"T1","span":{"begin":235,"end":253},"obj":"disease:C0027127"},{"id":"T2","span":{"begin":218,"end":223},"obj":"gene:1180"},{"id":"T3","span":{"begin":235,"end":253},"obj":"disease:C2936781"},{"id":"T4","span":{"begin":391,"end":396},"obj":"gene:1180"},{"id":"T5","span":{"begin":267,"end":285},"obj":"disease:C0027127"},{"id":"T6","span":{"begin":391,"end":396},"obj":"gene:1180"},{"id":"T7","span":{"begin":267,"end":285},"obj":"disease:C2936781"},{"id":"T8","span":{"begin":391,"end":396},"obj":"gene:1180"},{"id":"T9","span":{"begin":299,"end":313},"obj":"disease:C0026848"}],"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"},{"id":"R5","pred":"associated_with","subj":"T8","obj":"T9"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita.\nOBJECTIVE: To determine the functional consequences of missense mutations within the skeletal muscle chloride channel gene CLCN1 that cause myotonia congenita.\nBACKGROUND: Myotonia congenita is a genetic muscle disease associated with abnormalities in the skeletal muscle voltage-gated chloride (ClC-1) ch"}