PubMed:10029606 / 732-1011
Annnotations
PubTator4TogoVar
{"project":"PubTator4TogoVar","denotations":[{"id":"10029606_1","span":{"begin":117,"end":122},"obj":"ProteinMutation"}],"attributes":[{"id":"10029606_1_ProteinMutation","pred":"proteinmutation","subj":"10029606_1","obj":"rs1800562"}],"text":"There was a significantly higher frequency of coinheritance of the hereditary hemochromatosis (HH) HFE mutant allele C282Y in 18 unrelated XLSA hemizygotes than found in the normal population, indicating a role for coinheritance of HFE alleles in the expression of this disorder."}
sentences
{"project":"sentences","denotations":[{"id":"TextSentencer_T6","span":{"begin":0,"end":279},"obj":"Sentence"},{"id":"T6","span":{"begin":0,"end":279},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"There was a significantly higher frequency of coinheritance of the hereditary hemochromatosis (HH) HFE mutant allele C282Y in 18 unrelated XLSA hemizygotes than found in the normal population, indicating a role for coinheritance of HFE alleles in the expression of this disorder."}
DisGeNET5_variant_disease
{"project":"DisGeNET5_variant_disease","denotations":[{"id":"10029606-5#117#122#geners1800562","span":{"begin":117,"end":122},"obj":"geners1800562"},{"id":"10029606-5#139#143#diseaseC0221018","span":{"begin":139,"end":143},"obj":"diseaseC0221018"}],"relations":[{"id":"117#122#geners1800562139#143#diseaseC0221018","pred":"associated_with","subj":"10029606-5#117#122#geners1800562","obj":"10029606-5#139#143#diseaseC0221018"}],"text":"There was a significantly higher frequency of coinheritance of the hereditary hemochromatosis (HH) HFE mutant allele C282Y in 18 unrelated XLSA hemizygotes than found in the normal population, indicating a role for coinheritance of HFE alleles in the expression of this disorder."}
DisGeNET5_gene_disease
{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10029606-5#99#102#gene3077","span":{"begin":99,"end":102},"obj":"gene3077"},{"id":"10029606-5#232#235#gene3077","span":{"begin":232,"end":235},"obj":"gene3077"},{"id":"10029606-5#67#93#diseaseC0392514","span":{"begin":67,"end":93},"obj":"diseaseC0392514"},{"id":"10029606-5#95#97#diseaseC0392514","span":{"begin":95,"end":97},"obj":"diseaseC0392514"},{"id":"10029606-5#139#143#diseaseC0221018","span":{"begin":139,"end":143},"obj":"diseaseC0221018"},{"id":"10029606-5#67#93#diseaseC0392514","span":{"begin":67,"end":93},"obj":"diseaseC0392514"},{"id":"10029606-5#95#97#diseaseC0392514","span":{"begin":95,"end":97},"obj":"diseaseC0392514"},{"id":"10029606-5#139#143#diseaseC0221018","span":{"begin":139,"end":143},"obj":"diseaseC0221018"}],"relations":[{"id":"99#102#gene307767#93#diseaseC0392514","pred":"associated_with","subj":"10029606-5#99#102#gene3077","obj":"10029606-5#67#93#diseaseC0392514"},{"id":"99#102#gene307795#97#diseaseC0392514","pred":"associated_with","subj":"10029606-5#99#102#gene3077","obj":"10029606-5#95#97#diseaseC0392514"},{"id":"99#102#gene3077139#143#diseaseC0221018","pred":"associated_with","subj":"10029606-5#99#102#gene3077","obj":"10029606-5#139#143#diseaseC0221018"},{"id":"99#102#gene307767#93#diseaseC0392514","pred":"associated_with","subj":"10029606-5#99#102#gene3077","obj":"10029606-5#67#93#diseaseC0392514"},{"id":"99#102#gene307795#97#diseaseC0392514","pred":"associated_with","subj":"10029606-5#99#102#gene3077","obj":"10029606-5#95#97#diseaseC0392514"},{"id":"99#102#gene3077139#143#diseaseC0221018","pred":"associated_with","subj":"10029606-5#99#102#gene3077","obj":"10029606-5#139#143#diseaseC0221018"},{"id":"232#235#gene307767#93#diseaseC0392514","pred":"associated_with","subj":"10029606-5#232#235#gene3077","obj":"10029606-5#67#93#diseaseC0392514"},{"id":"232#235#gene307795#97#diseaseC0392514","pred":"associated_with","subj":"10029606-5#232#235#gene3077","obj":"10029606-5#95#97#diseaseC0392514"},{"id":"232#235#gene3077139#143#diseaseC0221018","pred":"associated_with","subj":"10029606-5#232#235#gene3077","obj":"10029606-5#139#143#diseaseC0221018"},{"id":"232#235#gene307767#93#diseaseC0392514","pred":"associated_with","subj":"10029606-5#232#235#gene3077","obj":"10029606-5#67#93#diseaseC0392514"},{"id":"232#235#gene307795#97#diseaseC0392514","pred":"associated_with","subj":"10029606-5#232#235#gene3077","obj":"10029606-5#95#97#diseaseC0392514"},{"id":"232#235#gene3077139#143#diseaseC0221018","pred":"associated_with","subj":"10029606-5#232#235#gene3077","obj":"10029606-5#139#143#diseaseC0221018"}],"text":"There was a significantly higher frequency of coinheritance of the hereditary hemochromatosis (HH) HFE mutant allele C282Y in 18 unrelated XLSA hemizygotes than found in the normal population, indicating a role for coinheritance of HFE alleles in the expression of this disorder."}
PubCasesORDO
{"project":"PubCasesORDO","denotations":[{"id":"AB4","span":{"begin":139,"end":143},"obj":"ORDO:75563"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"There was a significantly higher frequency of coinheritance of the hereditary hemochromatosis (HH) HFE mutant allele C282Y in 18 unrelated XLSA hemizygotes than found in the normal population, indicating a role for coinheritance of HFE alleles in the expression of this disorder."}