PubMed:10029606 / 1012-1104
Annnotations
PubTator4TogoVar
Id | Subject | Object | Predicate | Lexical cue | proteinmutation |
---|---|---|---|---|---|
10029606_2 | 75-80 | ProteinMutation | denotes | C282Y | rs1800562 |
sentences
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
TextSentencer_T7 | 0-92 | Sentence | denotes | One proband (Y199H) with severe and early iron loading coinherited HH as a C282Y homozygote. |
T7 | 0-92 | Sentence | denotes | One proband (Y199H) with severe and early iron loading coinherited HH as a C282Y homozygote. |
DisGeNET5_variant_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
10029606-6#75#80#geners1800562 | 75-80 | geners1800562 | denotes | C282Y |
10029606-6#13#18#geners137852310 | 13-18 | geners137852310 | denotes | Y199H |
10029606-6#67#69#diseaseC0392514 | 67-69 | diseaseC0392514 | denotes | HH |
75#80#geners180056267#69#diseaseC0392514 | 10029606-6#75#80#geners1800562 | 10029606-6#67#69#diseaseC0392514 | associated_with | C282Y,HH |
13#18#geners13785231067#69#diseaseC0392514 | 10029606-6#13#18#geners137852310 | 10029606-6#67#69#diseaseC0392514 | associated_with | Y199H,HH |