PubMed:20106987 / 564-708
Annnotations
PubTator4TogoVar
| Id | Subject | Object | Predicate | Lexical cue | proteinmutation |
|---|---|---|---|---|---|
| 20106987_0 | 39-44 | ProteinMutation | denotes | E624K | rs387906607 |
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T5 | 0-144 | Sentence | denotes | Here we identified a homozygous COL6A2 E624K mutation (C1 subdomain) and a homozygous COL6A2 R876S mutation (C2 subdomain) in two UCMD patients. |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T2 | 32-38 | gene:1292 | denotes | COL6A2 |
| T3 | 130-134 | disease:C0410179 | denotes | UCMD |
| T4 | 86-92 | gene:1292 | denotes | COL6A2 |
| T5 | 130-134 | disease:C0410179 | denotes | UCMD |
| R2 | T2 | T3 | associated_with | COL6A2,UCMD |
| R3 | T4 | T5 | associated_with | COL6A2,UCMD |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 20106987-4#39#44#geners387906607 | 39-44 | geners387906607 | denotes | E624K |
| 20106987-4#93#98#geners387906608 | 93-98 | geners387906608 | denotes | R876S |
| 20106987-4#130#134#diseaseC0410179 | 130-134 | diseaseC0410179 | denotes | UCMD |
| 39#44#geners387906607130#134#diseaseC0410179 | 20106987-4#39#44#geners387906607 | 20106987-4#130#134#diseaseC0410179 | associated_with | E624K,UCMD |
| 93#98#geners387906608130#134#diseaseC0410179 | 20106987-4#93#98#geners387906608 | 20106987-4#130#134#diseaseC0410179 | associated_with | R876S,UCMD |
mondo_disease
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T7 | 130-134 | Disease | denotes | UCMD | http://purl.obolibrary.org/obo/MONDO_0000355 |