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PubMed:10690989 / 267-581 JSONTXT

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PubMed_Structured_Abstracts

Id Subject Object Predicate Lexical cue
T2 0-314 BACKGROUND denotes Myotonia congenita is a genetic muscle disease associated with abnormalities in the skeletal muscle voltage-gated chloride (ClC-1) channel. In order to understand the molecular basis of this inherited disease, it is important to determine the physiologic consequences of mutations found in patients affected by it.

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10690989-2#124#129#gene1180 124-129 gene1180 denotes ClC-1
10690989-2#32#46#diseaseC0026848 32-46 diseaseC0026848 denotes muscle disease
124#129#gene118032#46#diseaseC0026848 10690989-2#124#129#gene1180 10690989-2#32#46#diseaseC0026848 associated_with ClC-1,muscle disease

DisGeNET

Id Subject Object Predicate Lexical cue
T4 124-129 gene:1180 denotes ClC-1
T5 0-18 disease:C0027127 denotes Myotonia congenita
T6 124-129 gene:1180 denotes ClC-1
T7 0-18 disease:C2936781 denotes Myotonia congenita
T8 124-129 gene:1180 denotes ClC-1
T9 32-46 disease:C0026848 denotes muscle disease
R3 T4 T5 associated_with ClC-1,Myotonia congenita
R4 T6 T7 associated_with ClC-1,Myotonia congenita
R5 T8 T9 associated_with ClC-1,muscle disease