PubMed:10690989 / 0-400
Annnotations
PubMed_Structured_Abstracts
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 106-254 | 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 | 235-243 | HP_0002486 | denotes | myotonia |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 10690989-0#50#55#gene1180 | 50-55 | gene1180 | denotes | CLCN1 |
| 10690989-0#75#93#diseaseC0027127 | 75-93 | diseaseC0027127 | denotes | myotonia congenita |
| 10690989-0#75#93#diseaseC2936781 | 75-93 | diseaseC2936781 | denotes | myotonia congenita |
| 10690989-2#124#129#gene1180 | 391-396 | gene1180 | denotes | ClC-1 |
| 10690989-2#32#46#diseaseC0026848 | 299-313 | diseaseC0026848 | denotes | muscle disease |
| 50#55#gene118075#93#diseaseC0027127 | 10690989-0#50#55#gene1180 | 10690989-0#75#93#diseaseC0027127 | associated_with | CLCN1,myotonia congenita |
| 50#55#gene118075#93#diseaseC2936781 | 10690989-0#50#55#gene1180 | 10690989-0#75#93#diseaseC2936781 | associated_with | CLCN1,myotonia congenita |
| 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 |
|---|---|---|---|---|
| T0 | 218-223 | gene:1180 | denotes | CLCN1 |
| T1 | 235-253 | disease:C0027127 | denotes | myotonia congenita |
| T2 | 218-223 | gene:1180 | denotes | CLCN1 |
| T3 | 235-253 | disease:C2936781 | denotes | myotonia congenita |
| T4 | 391-396 | gene:1180 | denotes | ClC-1 |
| T5 | 267-285 | disease:C0027127 | denotes | Myotonia congenita |
| T6 | 391-396 | gene:1180 | denotes | ClC-1 |
| T7 | 267-285 | disease:C2936781 | denotes | Myotonia congenita |
| T8 | 391-396 | gene:1180 | denotes | ClC-1 |
| T9 | 299-313 | disease:C0026848 | denotes | muscle disease |
| R1 | T0 | T1 | associated_with | CLCN1,myotonia congenita |
| R2 | T2 | T3 | associated_with | CLCN1,myotonia congenita |
| 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 |