PubMed:10073265
Annnotations
PubTator4TogoVar
| Id | Subject | Object | Predicate | Lexical cue | proteinmutation |
|---|---|---|---|---|---|
| 10073265_0 | 373-393 | ProteinMutation | denotes | cysteine-to-tyrosine | rs1800562 |
| 10073265_1 | 408-413 | ProteinMutation | denotes | C282Y | rs1800562 |
| 10073265_2 | 502-506 | ProteinMutation | denotes | H63D | rs1799945 |
| 10073265_3 | 577-582 | ProteinMutation | denotes | C282Y | rs1800562 |
| 10073265_4 | 587-591 | ProteinMutation | denotes | H63D | rs1799945 |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 10073265-4#85#90#geners1800562 | 408-413 | geners1800562 | denotes | C282Y |
| 10073265-4#179#183#geners1799945 | 502-506 | geners1799945 | denotes | H63D |
| 10073265-4#16#19#diseaseC0392514 | 339-342 | diseaseC0392514 | denotes | HHC |
| 85#90#geners180056216#19#diseaseC0392514 | 10073265-4#85#90#geners1800562 | 10073265-4#16#19#diseaseC0392514 | associated_with | C282Y,HHC |
| 179#183#geners179994516#19#diseaseC0392514 | 10073265-4#179#183#geners1799945 | 10073265-4#16#19#diseaseC0392514 | associated_with | H63D,HHC |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 74-93 | HP_0000007 | denotes | autosomal recessive |