PubMed:15749661 / 1018-1144
Annnotations
PubTator4TogoVar
Id | Subject | Object | Predicate | Lexical cue | proteinmutation |
---|---|---|---|---|---|
15749661_5 | 32-37 | ProteinMutation | denotes | L490R | rs80338886 |
15749661_6 | 42-47 | ProteinMutation | denotes | I238M | rs34242818 |
LitCoin-sentences
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T14 | 0-126 | Sentence | denotes | The patient homozygous for both L490R and I238M presented with a mild manifestation of hemochromatosis at the age of 41 years. |
LitCoin-entities
Id | Subject | Object | Predicate | Lexical cue | db_id |
---|---|---|---|---|---|
1526 | 4-11 | OrganismTaxon | denotes | patient | NCBITaxon:9606 |
1527 | 32-37 | SequenceVariant | denotes | L490R | DBSNP:rs80338886 |
1528 | 42-47 | SequenceVariant | denotes | I238M | DBSNP:rs34242818 |
1529 | 87-102 | DiseaseOrPhenotypicFeature | denotes | hemochromatosis | MESH:D006432 |
LitCoin-SeqVar
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T12 | 32-37 | SequenceVariant | denotes | L490R |
T13 | 42-47 | SequenceVariant | denotes | I238M |
LitCoin-GeneOrGeneProduct-v0
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T23 | 87-102 | GeneOrGeneProduct | denotes | hemochromatosis |
T24 | 120-125 | GeneOrGeneProduct | denotes | years |
LitCoin-GeneOrGeneProduct-v2
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T11 | 87-102 | GeneOrGeneProduct | denotes | hemochromatosis |
LitCoin-Disease-MeSH
Id | Subject | Object | Predicate | Lexical cue | originalLabel |
---|---|---|---|---|---|
T5 | 87-102 | DiseaseOrPhenotypicFeature | denotes | hemochromatosis | D006432 |
LitCoin_Mondo_095
Id | Subject | Object | Predicate | Lexical cue | mondo_id |
---|---|---|---|---|---|
T5 | 87-102 | DiseaseOrPhenotypicFeature | denotes | hemochromatosis | 0006507 |
LitCoin-MeSH-Disease-2
Id | Subject | Object | Predicate | Lexical cue | ID: |
---|---|---|---|---|---|
T5 | 87-102 | DiseaseOrPhenotypicFeature | denotes | hemochromatosis | D006432 |
LitCoin-MONDO_bioort2019
Id | Subject | Object | Predicate | Lexical cue | #label |
---|---|---|---|---|---|
T5 | 87-102 | DiseaseOrPhenotypicFeature | denotes | hemochromatosis | D006432 |
LitCoin-NCBITaxon-2
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T8 | 4-11 | OrganismTaxon | denotes | patient |
LitCoin-training-merged
Id | Subject | Object | Predicate | Lexical cue | #label |
---|---|---|---|---|---|
T5 | 87-102 | DiseaseOrPhenotypicFeature | denotes | hemochromatosis | D006432 |
T6192 | 4-11 | OrganismTaxon | denotes | patient | |
T24456 | 42-47 | SequenceVariant | denotes | I238M | |
T56720 | 32-37 | SequenceVariant | denotes | L490R |
DisGeNET5_variant_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
15749661-10#32#37#geners80338886 | 32-37 | geners80338886 | denotes | L490R |
15749661-10#42#47#geners34242818 | 42-47 | geners34242818 | denotes | I238M |
15749661-10#87#102#diseaseC0018995 | 87-102 | diseaseC0018995 | denotes | hemochromatosis |
15749661-10#87#102#diseaseC3469186 | 87-102 | diseaseC3469186 | denotes | hemochromatosis |
15749661-10#87#102#diseaseC0018995 | 87-102 | diseaseC0018995 | denotes | hemochromatosis |
15749661-10#87#102#diseaseC3469186 | 87-102 | diseaseC3469186 | denotes | hemochromatosis |
32#37#geners8033888687#102#diseaseC0018995 | 15749661-10#32#37#geners80338886 | 15749661-10#87#102#diseaseC0018995 | associated_with | L490R,hemochromatosis |
32#37#geners8033888687#102#diseaseC3469186 | 15749661-10#32#37#geners80338886 | 15749661-10#87#102#diseaseC3469186 | associated_with | L490R,hemochromatosis |
32#37#geners8033888687#102#diseaseC0018995 | 15749661-10#32#37#geners80338886 | 15749661-10#87#102#diseaseC0018995 | associated_with | L490R,hemochromatosis |
32#37#geners8033888687#102#diseaseC3469186 | 15749661-10#32#37#geners80338886 | 15749661-10#87#102#diseaseC3469186 | associated_with | L490R,hemochromatosis |
42#47#geners3424281887#102#diseaseC0018995 | 15749661-10#42#47#geners34242818 | 15749661-10#87#102#diseaseC0018995 | associated_with | I238M,hemochromatosis |
42#47#geners3424281887#102#diseaseC3469186 | 15749661-10#42#47#geners34242818 | 15749661-10#87#102#diseaseC3469186 | associated_with | I238M,hemochromatosis |
42#47#geners3424281887#102#diseaseC0018995 | 15749661-10#42#47#geners34242818 | 15749661-10#87#102#diseaseC0018995 | associated_with | I238M,hemochromatosis |
42#47#geners3424281887#102#diseaseC3469186 | 15749661-10#42#47#geners34242818 | 15749661-10#87#102#diseaseC3469186 | associated_with | I238M,hemochromatosis |
tmVarCorpus
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T10 | 32-37 | ProteinMutation:p|SUB|L|490|R | denotes | L490R |
T11 | 42-47 | ProteinMutation:p|SUB|I|238|M | denotes | I238M |