PubMed:7581380
Annnotations
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 280-285 | gene:1180 | denotes | CLCN1 |
| T1 | 228-246 | disease:C2936781 | denotes | myotonia congenita |
| T2 | 280-285 | gene:1180 | denotes | CLCN1 |
| T3 | 228-246 | disease:C0027127 | denotes | myotonia congenita |
| T4 | 773-778 | gene:1180 | denotes | CLCN1 |
| T5 | 872-887 | disease:C0270959 | denotes | myotonia levior |
| R1 | T0 | T1 | associated_with | CLCN1,myotonia congenita |
| R2 | T2 | T3 | associated_with | CLCN1,myotonia congenita |
| R3 | T4 | T5 | associated_with | CLCN1,myotonia levior |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 7581380-5#18#29#geners80356696 | 779-790 | geners80356696 | denotes | Gln-552-Arg |
| 7581380-5#111#126#diseaseC0270959 | 872-887 | diseaseC0270959 | denotes | myotonia levior |
| 18#29#geners80356696111#126#diseaseC0270959 | 7581380-5#18#29#geners80356696 | 7581380-5#111#126#diseaseC0270959 | associated_with | Gln-552-Arg,myotonia levior |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 7581380-2#61#66#gene1180 | 280-285 | gene1180 | denotes | CLCN1 |
| 7581380-2#0#46#diseaseC2936781 | 219-265 | diseaseC2936781 | denotes | Dominant myotonia congenita (Thomsen's disease |
| 7581380-5#12#17#gene1180 | 773-778 | gene1180 | denotes | CLCN1 |
| 7581380-5#111#126#diseaseC0270959 | 872-887 | diseaseC0270959 | denotes | myotonia levior |
| 61#66#gene11800#46#diseaseC2936781 | 7581380-2#61#66#gene1180 | 7581380-2#0#46#diseaseC2936781 | associated_with | CLCN1,Dominant myotonia congenita (Thomsen's disease |
| 12#17#gene1180111#126#diseaseC0270959 | 7581380-5#12#17#gene1180 | 7581380-5#111#126#diseaseC0270959 | associated_with | CLCN1,myotonia levior |
NCBIDiseaseCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-15 | SpecificDisease:D009224 | denotes | Myotonia levior |
| T2 | 21-46 | DiseaseClass:OMIM:160800 | denotes | chloride channel disorder |
| T3 | 61-94 | DiseaseClass:C536245 | denotes | dominant non-dystrophic myotonias |
| T4 | 219-246 | SpecificDisease:D009224 | denotes | Dominant myotonia congenita |
| T5 | 248-265 | SpecificDisease:D009224 | denotes | Thomsen's disease |
| T6 | 383-401 | DiseaseClass:D009224 | denotes | dominant myotonias |
| T7 | 621-636 | SpecificDisease:D009224 | denotes | myotonia levior |
| T8 | 690-698 | DiseaseClass:D009222 | denotes | myotonia |
| T9 | 707-724 | SpecificDisease:D009224 | denotes | Thomsen's disease |
| T10 | 741-759 | SpecificDisease:C536106 | denotes | muscle hypertrophy |
| T11 | 872-887 | SpecificDisease:D009224 | denotes | myotonia levior |
| T12 | 933-950 | SpecificDisease:D009224 | denotes | Thomsen's disease |
| T13 | 1145-1162 | SpecificDisease:D009224 | denotes | Thomsen's disease |
| T14 | 1224-1242 | DiseaseClass:D009224 | denotes | recessive myotonia |
NCBI-Disease-Train
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T1313 | 0-15 | SpecificDisease | denotes | Myotonia levior | D009224 |
| T1314 | 21-46 | DiseaseClass | denotes | chloride channel disorder | OMIM:160800 |
| T1315 | 61-94 | DiseaseClass | denotes | dominant non-dystrophic myotonias | C536245 |
| T1316 | 219-246 | SpecificDisease | denotes | Dominant myotonia congenita | D009224 |
| T1317 | 248-265 | SpecificDisease | denotes | Thomsen's disease | D009224 |
| T1318 | 383-401 | DiseaseClass | denotes | dominant myotonias | D009224 |
| T1319 | 621-636 | SpecificDisease | denotes | myotonia levior | D009224 |
| T1320 | 690-698 | DiseaseClass | denotes | myotonia | D009222 |
| T1321 | 707-724 | SpecificDisease | denotes | Thomsen's disease | D009224 |
| T1322 | 741-759 | SpecificDisease | denotes | muscle hypertrophy | C536106 |
| T1323 | 872-887 | SpecificDisease | denotes | myotonia levior | D009224 |
| T1324 | 933-950 | SpecificDisease | denotes | Thomsen's disease | D009224 |
| T1325 | 1145-1162 | SpecificDisease | denotes | Thomsen's disease | D009224 |
| T1326 | 1224-1242 | DiseaseClass | denotes | recessive myotonia | D009224 |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T1313 | 0-15 | SpecificDisease | denotes | Myotonia levior | D009224 |
| T1314 | 21-46 | DiseaseClass | denotes | chloride channel disorder | OMIM:160800 |
| T1315 | 61-94 | DiseaseClass | denotes | dominant non-dystrophic myotonias | C536245 |
| T1316 | 219-246 | SpecificDisease | denotes | Dominant myotonia congenita | D009224 |
| T1317 | 248-265 | SpecificDisease | denotes | Thomsen's disease | D009224 |
| T1318 | 383-401 | DiseaseClass | denotes | dominant myotonias | D009224 |
| T1319 | 621-636 | SpecificDisease | denotes | myotonia levior | D009224 |
| T1320 | 690-698 | DiseaseClass | denotes | myotonia | D009222 |
| T1321 | 707-724 | SpecificDisease | denotes | Thomsen's disease | D009224 |
| T1322 | 741-759 | SpecificDisease | denotes | muscle hypertrophy | C536106 |
| T1323 | 872-887 | SpecificDisease | denotes | myotonia levior | D009224 |
| T1324 | 933-950 | SpecificDisease | denotes | Thomsen's disease | D009224 |
| T1325 | 1145-1162 | SpecificDisease | denotes | Thomsen's disease | D009224 |
| T1326 | 1224-1242 | DiseaseClass | denotes | recessive myotonia | D009224 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-15 | SpecificDisease | denotes | Myotonia levior |
| T2 | 85-94 | DiseaseClass | denotes | myotonias |
| T3 | 228-246 | SpecificDisease | denotes | myotonia congenita |
| T4 | 248-265 | SpecificDisease | denotes | Thomsen's disease |
| T5 | 392-401 | DiseaseClass | denotes | myotonias |
| T6 | 621-636 | SpecificDisease | denotes | myotonia levior |
| T7 | 690-698 | SpecificDisease | denotes | myotonia |
| T8 | 707-724 | SpecificDisease | denotes | Thomsen's disease |
| T9 | 872-887 | SpecificDisease | denotes | myotonia levior |
| T10 | 933-950 | SpecificDisease | denotes | Thomsen's disease |
| T11 | 1078-1085 | SpecificDisease | denotes | Thomsen |
| T12 | 1145-1162 | SpecificDisease | denotes | Thomsen's disease |
| T13 | 1234-1242 | DiseaseClass | denotes | myotonia |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-15 | SpecificDisease | denotes | Myotonia levior |
| T2 | 85-94 | DiseaseClass | denotes | myotonias |
| T3 | 228-246 | SpecificDisease | denotes | myotonia congenita |
| T4 | 248-265 | SpecificDisease | denotes | Thomsen's disease |
| T5 | 392-401 | DiseaseClass | denotes | myotonias |
| T6 | 621-636 | SpecificDisease | denotes | myotonia levior |
| T7 | 690-698 | DiseaseClass | denotes | myotonia |
| T8 | 707-724 | SpecificDisease | denotes | Thomsen's disease |
| T9 | 872-887 | SpecificDisease | denotes | myotonia levior |
| T10 | 933-950 | SpecificDisease | denotes | Thomsen's disease |
| T11 | 1078-1085 | SpecificDisease | denotes | Thomsen |
| T12 | 1145-1162 | SpecificDisease | denotes | Thomsen's disease |
| T13 | 1234-1242 | DiseaseClass | denotes | myotonia |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 21-46 | DiseaseClass | denotes | chloride channel disorder |
| T2 | 61-94 | DiseaseClass | denotes | dominant non-dystrophic myotonias |
| T3 | 228-266 | SpecificDisease | denotes | myotonia congenita (Thomsen's disease) |
| T4 | 383-424 | DiseaseClass | denotes | dominant myotonias sensitive to potassium |
| T5 | 621-636 | SpecificDisease | denotes | myotonia levior |
| T6 | 690-698 | SpecificDisease | denotes | myotonia |
| T7 | 707-724 | SpecificDisease | denotes | Thomsen's disease |
| T8 | 822-842 | DiseaseClass | denotes | dominant inheritance |
| T9 | 872-887 | SpecificDisease | denotes | myotonia levior |
| T10 | 933-950 | SpecificDisease | denotes | Thomsen's disease |
| T11 | 1078-1094 | SpecificDisease | denotes | Thomsen pedigree |
| T12 | 1145-1162 | SpecificDisease | denotes | Thomsen's disease |
| T13 | 1224-1242 | DiseaseClass | denotes | recessive myotonia |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-15 | SpecificDisease | denotes | Myotonia levior |
| T2 | 21-46 | DiseaseClass | denotes | chloride channel disorder |
| T3 | 61-94 | DiseaseClass | denotes | dominant non-dystrophic myotonias |
| T4 | 162-170 | Modifier | denotes | myogenic |
| T5 | 219-266 | SpecificDisease | denotes | Dominant myotonia congenita (Thomsen's disease) |
| T6 | 392-424 | DiseaseClass | denotes | myotonias sensitive to potassium |
| T7 | 621-636 | SpecificDisease | denotes | myotonia levior |
| T8 | 707-724 | SpecificDisease | denotes | Thomsen's disease |
| T9 | 822-830 | Modifier | denotes | dominant |
| T10 | 872-887 | SpecificDisease | denotes | myotonia levior |
| T11 | 933-950 | SpecificDisease | denotes | Thomsen's disease |
| T12 | 1145-1162 | SpecificDisease | denotes | Thomsen's disease |
| T13 | 1224-1242 | DiseaseClass | denotes | recessive myotonia |