PubMed:10690989 / 106-254
Annnotations
PubMed_Structured_Abstracts
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-148 | OBJECTIVE | denotes | To determine the functional consequences of missense mutations within the skeletal muscle chloride channel gene CLCN1 that cause myotonia congenita. |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 129-137 | HP_0002486 | denotes | myotonia |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 112-117 | gene:1180 | denotes | CLCN1 |
| T1 | 129-147 | disease:C0027127 | denotes | myotonia congenita |
| T2 | 112-117 | gene:1180 | denotes | CLCN1 |
| T3 | 129-147 | disease:C2936781 | denotes | myotonia congenita |
| R1 | T0 | T1 | associated_with | CLCN1,myotonia congenita |
| R2 | T2 | T3 | associated_with | CLCN1,myotonia congenita |