PubMed:10690989 / 267-581
Annnotations
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 |