PubMed:15749661 / 1018-1144
Annnotations
PubTator4TogoVar
{"project":"PubTator4TogoVar","denotations":[{"id":"15749661_5","span":{"begin":32,"end":37},"obj":"ProteinMutation"},{"id":"15749661_6","span":{"begin":42,"end":47},"obj":"ProteinMutation"}],"attributes":[{"id":"15749661_5_ProteinMutation","pred":"proteinmutation","subj":"15749661_5","obj":"rs80338886"},{"id":"15749661_6_ProteinMutation","pred":"proteinmutation","subj":"15749661_6","obj":"rs34242818"}],"text":"The patient homozygous for both L490R and I238M presented with a mild manifestation of hemochromatosis at the age of 41 years."}
LitCoin-sentences
{"project":"LitCoin-sentences","denotations":[{"id":"T14","span":{"begin":0,"end":126},"obj":"Sentence"}],"text":"The patient homozygous for both L490R and I238M presented with a mild manifestation of hemochromatosis at the age of 41 years."}
LitCoin-entities
{"project":"LitCoin-entities","denotations":[{"id":"1526","span":{"begin":4,"end":11},"obj":"OrganismTaxon"},{"id":"1527","span":{"begin":32,"end":37},"obj":"SequenceVariant"},{"id":"1528","span":{"begin":42,"end":47},"obj":"SequenceVariant"},{"id":"1529","span":{"begin":87,"end":102},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A32","pred":"db_id","subj":"1526","obj":"NCBITaxon:9606"},{"id":"A33","pred":"db_id","subj":"1527","obj":"DBSNP:rs80338886"},{"id":"A34","pred":"db_id","subj":"1528","obj":"DBSNP:rs34242818"},{"id":"A35","pred":"db_id","subj":"1529","obj":"MESH:D006432"}],"namespaces":[{"prefix":"_base","uri":"https://w3id.org/biolink/vocab/"},{"prefix":"MESH","uri":"http://id.nlm.nih.gov/mesh/"},{"prefix":"NCBITaxon","uri":"https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id="},{"prefix":"NCBIGene","uri":"https://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"OMIM","uri":"https://www.omim.org/entry/"},{"prefix":"DBSNP","uri":"https://www.ncbi.nlm.nih.gov/snp/"}],"text":"The patient homozygous for both L490R and I238M presented with a mild manifestation of hemochromatosis at the age of 41 years."}
LitCoin-SeqVar
{"project":"LitCoin-SeqVar","denotations":[{"id":"T12","span":{"begin":32,"end":37},"obj":"SequenceVariant"},{"id":"T13","span":{"begin":42,"end":47},"obj":"SequenceVariant"}],"text":"The patient homozygous for both L490R and I238M presented with a mild manifestation of hemochromatosis at the age of 41 years."}
LitCoin-GeneOrGeneProduct-v0
{"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T23","span":{"begin":87,"end":102},"obj":"GeneOrGeneProduct"},{"id":"T24","span":{"begin":120,"end":125},"obj":"GeneOrGeneProduct"}],"text":"The patient homozygous for both L490R and I238M presented with a mild manifestation of hemochromatosis at the age of 41 years."}
LitCoin-GeneOrGeneProduct-v2
{"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T11","span":{"begin":87,"end":102},"obj":"GeneOrGeneProduct"}],"text":"The patient homozygous for both L490R and I238M presented with a mild manifestation of hemochromatosis at the age of 41 years."}
LitCoin-Disease-MeSH
{"project":"LitCoin-Disease-MeSH","denotations":[{"id":"T5","span":{"begin":87,"end":102},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A5","pred":"originalLabel","subj":"T5","obj":"D006432"}],"text":"The patient homozygous for both L490R and I238M presented with a mild manifestation of hemochromatosis at the age of 41 years."}
LitCoin_Mondo_095
{"project":"LitCoin_Mondo_095","denotations":[{"id":"T5","span":{"begin":87,"end":102},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A5","pred":"mondo_id","subj":"T5","obj":"0006507"}],"text":"The patient homozygous for both L490R and I238M presented with a mild manifestation of hemochromatosis at the age of 41 years."}
LitCoin-MeSH-Disease-2
{"project":"LitCoin-MeSH-Disease-2","denotations":[{"id":"T5","span":{"begin":87,"end":102},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A5","pred":"ID:","subj":"T5","obj":"D006432"}],"text":"The patient homozygous for both L490R and I238M presented with a mild manifestation of hemochromatosis at the age of 41 years."}
LitCoin-MONDO_bioort2019
{"project":"LitCoin-MONDO_bioort2019","denotations":[{"id":"T5","span":{"begin":87,"end":102},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A5","pred":"#label","subj":"T5","obj":"D006432"}],"text":"The patient homozygous for both L490R and I238M presented with a mild manifestation of hemochromatosis at the age of 41 years."}
LitCoin-NCBITaxon-2
{"project":"LitCoin-NCBITaxon-2","denotations":[{"id":"T8","span":{"begin":4,"end":11},"obj":"OrganismTaxon"}],"text":"The patient homozygous for both L490R and I238M presented with a mild manifestation of hemochromatosis at the age of 41 years."}
LitCoin-training-merged
{"project":"LitCoin-training-merged","denotations":[{"id":"T5","span":{"begin":87,"end":102},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6192","span":{"begin":4,"end":11},"obj":"OrganismTaxon"},{"id":"T24456","span":{"begin":42,"end":47},"obj":"SequenceVariant"},{"id":"T56720","span":{"begin":32,"end":37},"obj":"SequenceVariant"}],"attributes":[{"id":"A56971","pred":"#label","subj":"T5","obj":"D006432"}],"text":"The patient homozygous for both L490R and I238M presented with a mild manifestation of hemochromatosis at the age of 41 years."}
DisGeNET5_variant_disease
{"project":"DisGeNET5_variant_disease","denotations":[{"id":"15749661-10#32#37#geners80338886","span":{"begin":32,"end":37},"obj":"geners80338886"},{"id":"15749661-10#42#47#geners34242818","span":{"begin":42,"end":47},"obj":"geners34242818"},{"id":"15749661-10#87#102#diseaseC0018995","span":{"begin":87,"end":102},"obj":"diseaseC0018995"},{"id":"15749661-10#87#102#diseaseC3469186","span":{"begin":87,"end":102},"obj":"diseaseC3469186"},{"id":"15749661-10#87#102#diseaseC0018995","span":{"begin":87,"end":102},"obj":"diseaseC0018995"},{"id":"15749661-10#87#102#diseaseC3469186","span":{"begin":87,"end":102},"obj":"diseaseC3469186"}],"relations":[{"id":"32#37#geners8033888687#102#diseaseC0018995","pred":"associated_with","subj":"15749661-10#32#37#geners80338886","obj":"15749661-10#87#102#diseaseC0018995"},{"id":"32#37#geners8033888687#102#diseaseC3469186","pred":"associated_with","subj":"15749661-10#32#37#geners80338886","obj":"15749661-10#87#102#diseaseC3469186"},{"id":"32#37#geners8033888687#102#diseaseC0018995","pred":"associated_with","subj":"15749661-10#32#37#geners80338886","obj":"15749661-10#87#102#diseaseC0018995"},{"id":"32#37#geners8033888687#102#diseaseC3469186","pred":"associated_with","subj":"15749661-10#32#37#geners80338886","obj":"15749661-10#87#102#diseaseC3469186"},{"id":"42#47#geners3424281887#102#diseaseC0018995","pred":"associated_with","subj":"15749661-10#42#47#geners34242818","obj":"15749661-10#87#102#diseaseC0018995"},{"id":"42#47#geners3424281887#102#diseaseC3469186","pred":"associated_with","subj":"15749661-10#42#47#geners34242818","obj":"15749661-10#87#102#diseaseC3469186"},{"id":"42#47#geners3424281887#102#diseaseC0018995","pred":"associated_with","subj":"15749661-10#42#47#geners34242818","obj":"15749661-10#87#102#diseaseC0018995"},{"id":"42#47#geners3424281887#102#diseaseC3469186","pred":"associated_with","subj":"15749661-10#42#47#geners34242818","obj":"15749661-10#87#102#diseaseC3469186"}],"text":"The patient homozygous for both L490R and I238M presented with a mild manifestation of hemochromatosis at the age of 41 years."}
tmVarCorpus
{"project":"tmVarCorpus","denotations":[{"id":"T10","span":{"begin":32,"end":37},"obj":"ProteinMutation:p|SUB|L|490|R"},{"id":"T11","span":{"begin":42,"end":47},"obj":"ProteinMutation:p|SUB|I|238|M"}],"text":"The patient homozygous for both L490R and I238M presented with a mild manifestation of hemochromatosis at the age of 41 years."}