PubMed:9521421 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/9521421","sourcedb":"PubMed","sourceid":"9521421","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/9521421","text":"Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype.\nMucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Previous studies of patients from a British-Irish population showed that the I113F mutation is the most common single mutation among MPS IVA patients and produces a severe clinical phenotype. We studied mutations in the GALNS gene from 23 additional MPS IVA patients (15 from Australia, 8 from Northern Ireland), with various clinical phenotypes (severe, 16 cases; intermediate, 4 cases; mild, 3 cases). We found two common mutations that together accounted for 32% of the 44 unrelated alleles in these patients. One is the T312S mutation, a novel mutation found exclusively in milder patients. The other is the previously described I113F that produces a severe phenotype. The I113F and T312S mutations accounted for 8 (18%) and 6 (14%) of 44 unrelated alleles, respectively. The relatively high residual GALNS activity seen when the T312S mutant cDNA is overexpressed in mutant cells provides an explanation for the mild phenotype in patients with this mutation. The distribution and relative frequencies of the I113F and T312S mutations in Australia corresponded to those observed in Northern Ireland and are unique to these two populations, suggesting that both mutations were probably introduced to Australia by Irish migrants during the 19th century. Haplotype analysis using 6 RFLPs provides additional data that the I113F mutation originated from a common ancestor. The other 9 novel mutations identified in these 23 patients were each limited to a single family. These data provide further evidence for extensive allelic heterogeneity in MPS IVA in British-Irish patients and provide evidence for their transmission to Australia by British-Irish migrants.","tracks":[{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":27,"end":52},"obj":"SpecificDisease:OMIM:253000"},{"id":"T2","span":{"begin":173,"end":198},"obj":"SpecificDisease:OMIM:253000"},{"id":"T3","span":{"begin":200,"end":207},"obj":"SpecificDisease:OMIM:253000"},{"id":"T4","span":{"begin":215,"end":261},"obj":"DiseaseClass:D016464"},{"id":"T5","span":{"begin":274,"end":288},"obj":"DiseaseClass:D030342"},{"id":"T6","span":{"begin":476,"end":483},"obj":"Modifier:OMIM:253000"},{"id":"T7","span":{"begin":593,"end":600},"obj":"Modifier:OMIM:253000"},{"id":"T8","span":{"begin":1889,"end":1896},"obj":"SpecificDisease:OMIM:253000"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T2","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T3","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T4","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T5","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T6","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T7","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T8","pred":"source","obj":"NCBIDiseaseCorpus"}]},{"project":"DisGeNET5_variant_disease","denotations":[{"id":"9521421-0#119#124#geners118204446","span":{"begin":119,"end":124},"obj":"geners118204446"},{"id":"9521421-0#27#48#diseaseC0026703","span":{"begin":27,"end":48},"obj":"diseaseC0026703"},{"id":"9521421-2#77#82#geners118204438","span":{"begin":420,"end":425},"obj":"geners118204438"},{"id":"9521421-2#133#140#diseaseC0086651","span":{"begin":476,"end":483},"obj":"diseaseC0086651"}],"relations":[{"id":"119#124#geners11820444627#48#diseaseC0026703","pred":"associated_with","subj":"9521421-0#119#124#geners118204446","obj":"9521421-0#27#48#diseaseC0026703"},{"id":"77#82#geners118204438133#140#diseaseC0086651","pred":"associated_with","subj":"9521421-2#77#82#geners118204438","obj":"9521421-2#133#140#diseaseC0086651"}],"attributes":[{"subj":"9521421-0#119#124#geners118204446","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"9521421-0#27#48#diseaseC0026703","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"9521421-2#77#82#geners118204438","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"9521421-2#133#140#diseaseC0086651","pred":"source","obj":"DisGeNET5_variant_disease"}]},{"project":"NCBI-Disease-Test","denotations":[{"id":"T515","span":{"begin":27,"end":52},"obj":"SpecificDisease"},{"id":"T516","span":{"begin":173,"end":198},"obj":"SpecificDisease"},{"id":"T517","span":{"begin":200,"end":207},"obj":"SpecificDisease"},{"id":"T518","span":{"begin":215,"end":261},"obj":"DiseaseClass"},{"id":"T519","span":{"begin":274,"end":288},"obj":"DiseaseClass"},{"id":"T520","span":{"begin":476,"end":483},"obj":"Modifier"},{"id":"T521","span":{"begin":593,"end":600},"obj":"Modifier"},{"id":"T522","span":{"begin":1889,"end":1896},"obj":"SpecificDisease"}],"attributes":[{"id":"A515","pred":"database_id","subj":"T515","obj":"OMIM:253000"},{"id":"A516","pred":"database_id","subj":"T516","obj":"OMIM:253000"},{"id":"A517","pred":"database_id","subj":"T517","obj":"OMIM:253000"},{"id":"A518","pred":"database_id","subj":"T518","obj":"D016464"},{"id":"A519","pred":"database_id","subj":"T519","obj":"D030342"},{"id":"A520","pred":"database_id","subj":"T520","obj":"OMIM:253000"},{"id":"A521","pred":"database_id","subj":"T521","obj":"OMIM:253000"},{"id":"A522","pred":"database_id","subj":"T522","obj":"OMIM:253000"},{"subj":"T515","pred":"source","obj":"NCBI-Disease-Test"},{"subj":"T516","pred":"source","obj":"NCBI-Disease-Test"},{"subj":"T517","pred":"source","obj":"NCBI-Disease-Test"},{"subj":"T518","pred":"source","obj":"NCBI-Disease-Test"},{"subj":"T519","pred":"source","obj":"NCBI-Disease-Test"},{"subj":"T520","pred":"source","obj":"NCBI-Disease-Test"},{"subj":"T521","pred":"source","obj":"NCBI-Disease-Test"},{"subj":"T522","pred":"source","obj":"NCBI-Disease-Test"}]},{"project":"NCBI-Disease-Test-Assistant-Knowledge","denotations":[{"id":"T1","span":{"begin":27,"end":52},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":173,"end":208},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":235,"end":261},"obj":"DiseaseClass"},{"id":"T4","span":{"begin":476,"end":483},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":593,"end":600},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":1889,"end":1896},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Test-Assistant-Knowledge"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Test-Assistant-Knowledge"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Test-Assistant-Knowledge"},{"subj":"T4","pred":"source","obj":"NCBI-Disease-Test-Assistant-Knowledge"},{"subj":"T5","pred":"source","obj":"NCBI-Disease-Test-Assistant-Knowledge"},{"subj":"T6","pred":"source","obj":"NCBI-Disease-Test-Assistant-Knowledge"}]},{"project":"NCBI-Disease-Test-4o-NoGuidelineInPrompt","denotations":[{"id":"T1","span":{"begin":27,"end":52},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":173,"end":208},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":476,"end":483},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":508,"end":514},"obj":"Modifier"},{"id":"T5","span":{"begin":593,"end":600},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":690,"end":696},"obj":"Modifier"},{"id":"T7","span":{"begin":708,"end":720},"obj":"Modifier"},{"id":"T8","span":{"begin":731,"end":735},"obj":"Modifier"},{"id":"T9","span":{"begin":921,"end":927},"obj":"Modifier"},{"id":"T10","span":{"begin":998,"end":1004},"obj":"Modifier"},{"id":"T11","span":{"begin":1260,"end":1264},"obj":"Modifier"},{"id":"T12","span":{"begin":1889,"end":1896},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Test-4o-NoGuidelineInPrompt"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Test-4o-NoGuidelineInPrompt"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Test-4o-NoGuidelineInPrompt"},{"subj":"T4","pred":"source","obj":"NCBI-Disease-Test-4o-NoGuidelineInPrompt"},{"subj":"T5","pred":"source","obj":"NCBI-Disease-Test-4o-NoGuidelineInPrompt"},{"subj":"T6","pred":"source","obj":"NCBI-Disease-Test-4o-NoGuidelineInPrompt"},{"subj":"T7","pred":"source","obj":"NCBI-Disease-Test-4o-NoGuidelineInPrompt"},{"subj":"T8","pred":"source","obj":"NCBI-Disease-Test-4o-NoGuidelineInPrompt"},{"subj":"T9","pred":"source","obj":"NCBI-Disease-Test-4o-NoGuidelineInPrompt"},{"subj":"T10","pred":"source","obj":"NCBI-Disease-Test-4o-NoGuidelineInPrompt"},{"subj":"T11","pred":"source","obj":"NCBI-Disease-Test-4o-NoGuidelineInPrompt"},{"subj":"T12","pred":"source","obj":"NCBI-Disease-Test-4o-NoGuidelineInPrompt"}]},{"project":"NCBI-Disease-Test-4o-GuidelineInPrompt","denotations":[{"id":"T1","span":{"begin":27,"end":52},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":173,"end":208},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":476,"end":483},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":593,"end":600},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":1889,"end":1896},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Test-4o-GuidelineInPrompt"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Test-4o-GuidelineInPrompt"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Test-4o-GuidelineInPrompt"},{"subj":"T4","pred":"source","obj":"NCBI-Disease-Test-4o-GuidelineInPrompt"},{"subj":"T5","pred":"source","obj":"NCBI-Disease-Test-4o-GuidelineInPrompt"}]},{"project":"NCBI-Disease-Corpus-UpdatedGuideline","denotations":[{"id":"T1","span":{"begin":27,"end":52},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":173,"end":198},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":200,"end":207},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":215,"end":261},"obj":"DiseaseClass"},{"id":"T5","span":{"begin":476,"end":483},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":593,"end":600},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":1889,"end":1896},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-UpdatedGuideline"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Corpus-UpdatedGuideline"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Corpus-UpdatedGuideline"},{"subj":"T4","pred":"source","obj":"NCBI-Disease-Corpus-UpdatedGuideline"},{"subj":"T5","pred":"source","obj":"NCBI-Disease-Corpus-UpdatedGuideline"},{"subj":"T6","pred":"source","obj":"NCBI-Disease-Corpus-UpdatedGuideline"},{"subj":"T7","pred":"source","obj":"NCBI-Disease-Corpus-UpdatedGuideline"}]},{"project":"NCBI-Disease-Corpus-humanintheloop","denotations":[{"id":"T1","span":{"begin":27,"end":52},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":173,"end":198},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":200,"end":207},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":476,"end":483},"obj":"Modifier"},{"id":"T5","span":{"begin":593,"end":600},"obj":"Modifier"},{"id":"T6","span":{"begin":1889,"end":1896},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-humanintheloop"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Corpus-humanintheloop"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Corpus-humanintheloop"},{"subj":"T4","pred":"source","obj":"NCBI-Disease-Corpus-humanintheloop"},{"subj":"T5","pred":"source","obj":"NCBI-Disease-Corpus-humanintheloop"},{"subj":"T6","pred":"source","obj":"NCBI-Disease-Corpus-humanintheloop"}]},{"project":"NCBI-Disease-Corpus-rezarta1","denotations":[{"id":"T1","span":{"begin":27,"end":52},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":173,"end":198},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":200,"end":207},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":476,"end":483},"obj":"Modifier"},{"id":"T5","span":{"begin":593,"end":600},"obj":"Modifier"},{"id":"T6","span":{"begin":1889,"end":1896},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-rezarta1"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Corpus-rezarta1"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Corpus-rezarta1"},{"subj":"T4","pred":"source","obj":"NCBI-Disease-Corpus-rezarta1"},{"subj":"T5","pred":"source","obj":"NCBI-Disease-Corpus-rezarta1"},{"subj":"T6","pred":"source","obj":"NCBI-Disease-Corpus-rezarta1"}]},{"project":"NCBI-Disease-Corpus-All","denotations":[{"id":"T515","span":{"begin":27,"end":52},"obj":"SpecificDisease"},{"id":"T516","span":{"begin":173,"end":198},"obj":"SpecificDisease"},{"id":"T517","span":{"begin":200,"end":207},"obj":"SpecificDisease"},{"id":"T518","span":{"begin":215,"end":261},"obj":"DiseaseClass"},{"id":"T519","span":{"begin":274,"end":288},"obj":"DiseaseClass"},{"id":"T520","span":{"begin":476,"end":483},"obj":"Modifier"},{"id":"T521","span":{"begin":593,"end":600},"obj":"Modifier"},{"id":"T522","span":{"begin":1889,"end":1896},"obj":"SpecificDisease"}],"attributes":[{"id":"A515","pred":"database_id","subj":"T515","obj":"OMIM:253000"},{"id":"A516","pred":"database_id","subj":"T516","obj":"OMIM:253000"},{"id":"A517","pred":"database_id","subj":"T517","obj":"OMIM:253000"},{"id":"A518","pred":"database_id","subj":"T518","obj":"D016464"},{"id":"A519","pred":"database_id","subj":"T519","obj":"D030342"},{"id":"A520","pred":"database_id","subj":"T520","obj":"OMIM:253000"},{"id":"A521","pred":"database_id","subj":"T521","obj":"OMIM:253000"},{"id":"A522","pred":"database_id","subj":"T522","obj":"OMIM:253000"},{"subj":"T515","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T516","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T517","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T518","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T519","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T520","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T521","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T522","pred":"source","obj":"NCBI-Disease-Corpus-All"}]},{"project":"NCBI-Disease-Corpus-2stage-All","denotations":[{"id":"T1","span":{"begin":27,"end":52},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":173,"end":198},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":200,"end":207},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":476,"end":483},"obj":"Modifier"},{"id":"T5","span":{"begin":593,"end":600},"obj":"Modifier"},{"id":"T6","span":{"begin":1889,"end":1896},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T4","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T5","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T6","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"}]},{"project":"NCBI-Disease-Corpus-rezarta-All","denotations":[{"id":"T1","span":{"begin":27,"end":52},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":173,"end":198},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":200,"end":207},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":476,"end":483},"obj":"Modifier"},{"id":"T5","span":{"begin":593,"end":600},"obj":"Modifier"},{"id":"T6","span":{"begin":1889,"end":1896},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-rezarta-All"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Corpus-rezarta-All"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Corpus-rezarta-All"},{"subj":"T4","pred":"source","obj":"NCBI-Disease-Corpus-rezarta-All"},{"subj":"T5","pred":"source","obj":"NCBI-Disease-Corpus-rezarta-All"},{"subj":"T6","pred":"source","obj":"NCBI-Disease-Corpus-rezarta-All"}]},{"project":"NCBI-Disease-Corpus-4oGuideline-All","denotations":[{"id":"T1","span":{"begin":27,"end":52},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":173,"end":208},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":476,"end":483},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":593,"end":600},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":1889,"end":1896},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-4oGuideline-All"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Corpus-4oGuideline-All"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Corpus-4oGuideline-All"},{"subj":"T4","pred":"source","obj":"NCBI-Disease-Corpus-4oGuideline-All"},{"subj":"T5","pred":"source","obj":"NCBI-Disease-Corpus-4oGuideline-All"}]},{"project":"NCBI-Disease-Corpus-Simple-All","denotations":[{"id":"T1","span":{"begin":27,"end":52},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":173,"end":208},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":235,"end":261},"obj":"DiseaseClass"},{"id":"T4","span":{"begin":379,"end":392},"obj":"Modifier"},{"id":"T5","span":{"begin":476,"end":483},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":508,"end":514},"obj":"Modifier"},{"id":"T7","span":{"begin":593,"end":600},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":690,"end":696},"obj":"Modifier"},{"id":"T9","span":{"begin":708,"end":720},"obj":"Modifier"},{"id":"T10","span":{"begin":731,"end":735},"obj":"Modifier"},{"id":"T11","span":{"begin":921,"end":927},"obj":"Modifier"},{"id":"T12","span":{"begin":998,"end":1004},"obj":"Modifier"},{"id":"T13","span":{"begin":1260,"end":1264},"obj":"Modifier"},{"id":"T14","span":{"begin":1889,"end":1896},"obj":"SpecificDisease"},{"id":"T15","span":{"begin":1900,"end":1913},"obj":"Modifier"},{"id":"T16","span":{"begin":1983,"end":1996},"obj":"Modifier"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T4","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T5","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T6","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T7","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T8","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T9","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T10","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T11","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T12","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T13","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T14","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T15","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T16","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"}]},{"project":"NCBI-Disease-Corpus-o3-2","denotations":[{"id":"T1","span":{"begin":27,"end":52},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":173,"end":198},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":200,"end":207},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":235,"end":261},"obj":"DiseaseClass"},{"id":"T5","span":{"begin":476,"end":483},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":593,"end":600},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":1889,"end":1896},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-o3-2"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Corpus-o3-2"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Corpus-o3-2"},{"subj":"T4","pred":"source","obj":"NCBI-Disease-Corpus-o3-2"},{"subj":"T5","pred":"source","obj":"NCBI-Disease-Corpus-o3-2"},{"subj":"T6","pred":"source","obj":"NCBI-Disease-Corpus-o3-2"},{"subj":"T7","pred":"source","obj":"NCBI-Disease-Corpus-o3-2"}]},{"project":"NCBI-Disease-Corpus-high-o3-1","denotations":[{"id":"T1","span":{"begin":27,"end":52},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":173,"end":198},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":200,"end":207},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":476,"end":483},"obj":"Modifier"},{"id":"T5","span":{"begin":593,"end":600},"obj":"Modifier"},{"id":"T6","span":{"begin":1889,"end":1896},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-high-o3-1"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Corpus-high-o3-1"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Corpus-high-o3-1"},{"subj":"T4","pred":"source","obj":"NCBI-Disease-Corpus-high-o3-1"},{"subj":"T5","pred":"source","obj":"NCBI-Disease-Corpus-high-o3-1"},{"subj":"T6","pred":"source","obj":"NCBI-Disease-Corpus-high-o3-1"}]},{"project":"NCBI-Disease-Corpus-high-o3-2","denotations":[{"id":"T1","span":{"begin":27,"end":52},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":173,"end":198},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":200,"end":207},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":476,"end":483},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":593,"end":600},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":1889,"end":1896},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-high-o3-2"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Corpus-high-o3-2"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Corpus-high-o3-2"},{"subj":"T4","pred":"source","obj":"NCBI-Disease-Corpus-high-o3-2"},{"subj":"T5","pred":"source","obj":"NCBI-Disease-Corpus-high-o3-2"},{"subj":"T6","pred":"source","obj":"NCBI-Disease-Corpus-high-o3-2"}]},{"project":"12345","denotations":[{"id":"T1","span":{"begin":27,"end":52},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":173,"end":198},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":200,"end":207},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":476,"end":483},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":593,"end":600},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":1889,"end":1896},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"12345"},{"subj":"T2","pred":"source","obj":"12345"},{"subj":"T3","pred":"source","obj":"12345"},{"subj":"T4","pred":"source","obj":"12345"},{"subj":"T5","pred":"source","obj":"12345"},{"subj":"T6","pred":"source","obj":"12345"}]},{"project":"123456","denotations":[{"id":"T1","span":{"begin":27,"end":52},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":173,"end":198},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":200,"end":207},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":476,"end":483},"obj":"Modifier"},{"id":"T5","span":{"begin":593,"end":600},"obj":"Modifier"},{"id":"T6","span":{"begin":1889,"end":1896},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"123456"},{"subj":"T2","pred":"source","obj":"123456"},{"subj":"T3","pred":"source","obj":"123456"},{"subj":"T4","pred":"source","obj":"123456"},{"subj":"T5","pred":"source","obj":"123456"},{"subj":"T6","pred":"source","obj":"123456"}]},{"project":"NCBI-Disease-Corpus-GPT5-withguidelines","denotations":[{"id":"T1","span":{"begin":27,"end":52},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":173,"end":198},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":200,"end":207},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":235,"end":261},"obj":"DiseaseClass"},{"id":"T5","span":{"begin":476,"end":483},"obj":"Modifier"},{"id":"T6","span":{"begin":593,"end":600},"obj":"Modifier"},{"id":"T7","span":{"begin":1889,"end":1896},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-GPT5-withguidelines"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Corpus-GPT5-withguidelines"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Corpus-GPT5-withguidelines"},{"subj":"T4","pred":"source","obj":"NCBI-Disease-Corpus-GPT5-withguidelines"},{"subj":"T5","pred":"source","obj":"NCBI-Disease-Corpus-GPT5-withguidelines"},{"subj":"T6","pred":"source","obj":"NCBI-Disease-Corpus-GPT5-withguidelines"},{"subj":"T7","pred":"source","obj":"NCBI-Disease-Corpus-GPT5-withguidelines"}]},{"project":"NCBI-Disease-Corpus-GPT5-noguidelines","denotations":[{"id":"T1","span":{"begin":27,"end":52},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":157,"end":171},"obj":"Modifier"},{"id":"T3","span":{"begin":173,"end":208},"obj":"CompositeMention"},{"id":"T4","span":{"begin":215,"end":234},"obj":"Modifier"},{"id":"T5","span":{"begin":235,"end":261},"obj":"DiseaseClass"},{"id":"T6","span":{"begin":476,"end":483},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":508,"end":533},"obj":"Modifier"},{"id":"T8","span":{"begin":593,"end":600},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":690,"end":696},"obj":"Modifier"},{"id":"T10","span":{"begin":708,"end":720},"obj":"Modifier"},{"id":"T11","span":{"begin":731,"end":735},"obj":"Modifier"},{"id":"T12","span":{"begin":921,"end":927},"obj":"Modifier"},{"id":"T13","span":{"begin":998,"end":1014},"obj":"Modifier"},{"id":"T14","span":{"begin":1260,"end":1274},"obj":"Modifier"},{"id":"T15","span":{"begin":1889,"end":1896},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-GPT5-noguidelines"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Corpus-GPT5-noguidelines"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Corpus-GPT5-noguidelines"},{"subj":"T4","pred":"source","obj":"NCBI-Disease-Corpus-GPT5-noguidelines"},{"subj":"T5","pred":"source","obj":"NCBI-Disease-Corpus-GPT5-noguidelines"},{"subj":"T6","pred":"source","obj":"NCBI-Disease-Corpus-GPT5-noguidelines"},{"subj":"T7","pred":"source","obj":"NCBI-Disease-Corpus-GPT5-noguidelines"},{"subj":"T8","pred":"source","obj":"NCBI-Disease-Corpus-GPT5-noguidelines"},{"subj":"T9","pred":"source","obj":"NCBI-Disease-Corpus-GPT5-noguidelines"},{"subj":"T10","pred":"source","obj":"NCBI-Disease-Corpus-GPT5-noguidelines"},{"subj":"T11","pred":"source","obj":"NCBI-Disease-Corpus-GPT5-noguidelines"},{"subj":"T12","pred":"source","obj":"NCBI-Disease-Corpus-GPT5-noguidelines"},{"subj":"T13","pred":"source","obj":"NCBI-Disease-Corpus-GPT5-noguidelines"},{"subj":"T14","pred":"source","obj":"NCBI-Disease-Corpus-GPT5-noguidelines"},{"subj":"T15","pred":"source","obj":"NCBI-Disease-Corpus-GPT5-noguidelines"}]},{"project":"NCBI-Disease-Corpus-GPT5-guidelineprompt","denotations":[{"id":"T1","span":{"begin":27,"end":52},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":173,"end":198},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":200,"end":207},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":215,"end":261},"obj":"DiseaseClass"},{"id":"T5","span":{"begin":476,"end":483},"obj":"Modifier"},{"id":"T6","span":{"begin":593,"end":600},"obj":"Modifier"},{"id":"T7","span":{"begin":1889,"end":1896},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-GPT5-guidelineprompt"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Corpus-GPT5-guidelineprompt"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Corpus-GPT5-guidelineprompt"},{"subj":"T4","pred":"source","obj":"NCBI-Disease-Corpus-GPT5-guidelineprompt"},{"subj":"T5","pred":"source","obj":"NCBI-Disease-Corpus-GPT5-guidelineprompt"},{"subj":"T6","pred":"source","obj":"NCBI-Disease-Corpus-GPT5-guidelineprompt"},{"subj":"T7","pred":"source","obj":"NCBI-Disease-Corpus-GPT5-guidelineprompt"}]},{"project":"NCBI-Disease-Corpus-Moderated1","denotations":[{"id":"T1","span":{"begin":27,"end":52},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":173,"end":198},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":200,"end":207},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":215,"end":261},"obj":"DiseaseClass"},{"id":"T5","span":{"begin":476,"end":483},"obj":"Modifier"},{"id":"T6","span":{"begin":593,"end":600},"obj":"Modifier"},{"id":"T7","span":{"begin":1889,"end":1896},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-Moderated1"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Corpus-Moderated1"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Corpus-Moderated1"},{"subj":"T4","pred":"source","obj":"NCBI-Disease-Corpus-Moderated1"},{"subj":"T5","pred":"source","obj":"NCBI-Disease-Corpus-Moderated1"},{"subj":"T6","pred":"source","obj":"NCBI-Disease-Corpus-Moderated1"},{"subj":"T7","pred":"source","obj":"NCBI-Disease-Corpus-Moderated1"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"NCBIDiseaseCorpus","color":"#9396ec","default":true},{"id":"DisGeNET5_variant_disease","color":"#b0ec93"},{"id":"NCBI-Disease-Test","color":"#ec93ca"},{"id":"NCBI-Disease-Test-Assistant-Knowledge","color":"#93e4ec"},{"id":"NCBI-Disease-Test-4o-NoGuidelineInPrompt","color":"#ecd993"},{"id":"NCBI-Disease-Test-4o-GuidelineInPrompt","color":"#bf93ec"},{"id":"NCBI-Disease-Corpus-UpdatedGuideline","color":"#93eca5"},{"id":"NCBI-Disease-Corpus-humanintheloop","color":"#ec939a"},{"id":"NCBI-Disease-Corpus-rezarta1","color":"#93b4ec"},{"id":"NCBI-Disease-Corpus-All","color":"#ceec93"},{"id":"NCBI-Disease-Corpus-2stage-All","color":"#ec93e8"},{"id":"NCBI-Disease-Corpus-rezarta-All","color":"#93ecd5"},{"id":"NCBI-Disease-Corpus-4oGuideline-All","color":"#ecbb93"},{"id":"NCBI-Disease-Corpus-Simple-All","color":"#a193ec"},{"id":"NCBI-Disease-Corpus-o3-2","color":"#9eec93"},{"id":"NCBI-Disease-Corpus-high-o3-1","color":"#ec93b8"},{"id":"NCBI-Disease-Corpus-high-o3-2","color":"#93d2ec"},{"id":"12345","color":"#ecec93"},{"id":"123456","color":"#d293ec"},{"id":"NCBI-Disease-Corpus-GPT5-withguidelines","color":"#93ecb8"},{"id":"NCBI-Disease-Corpus-GPT5-noguidelines","color":"#ec9e93"},{"id":"NCBI-Disease-Corpus-GPT5-guidelineprompt","color":"#93a2ec"},{"id":"NCBI-Disease-Corpus-Moderated1","color":"#bcec93"}]}]}}