PubMed:10406661 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/10406661","sourcedb":"PubMed","sourceid":"10406661","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/10406661","text":"Small deletions in the type II collagen triple helix produce kniest dysplasia.\nKniest dysplasia is a moderately severe type II collagenopathy, characterized by short trunk and limbs, kyphoscoliosis, midface hypoplasia, severe myopia, and hearing loss. Mutations in the gene that encodes type II collagen (COL2A1), the predominant protein of cartilage, have been identified in a number of individuals with Kniest dysplasia. All but two of these previously described mutations cause in-frame deletions in type II collagen, either by small deletions in the gene or splice site alterations. Furthermore, all but one of these mutations is located between exons 12 and 24 in the COL2A1 gene. We used heteroduplex analysis to identify sequence anomalies in five individuals with Kniest dysplasia. Sequencing of the index patients' genomic DNA identified four new dominant mutations in COL2A1 that result in Kniest dysplasia: a 21-bp deletion in exon 16, an 18-bp deletion in exon 19, and 4-bp deletions in the splice donor sites of introns 14 and 20. A previously described 28-bp deletion at the COL2A1 exon 12-intron 12 junction, deleting the splice donor site, was identified in the fifth case. The latter three mutations are predicted to result in exon skipping in the mRNA encoded from the mutant allele. These data suggest that Kniest dysplasia results from shorter type II collagen monomers, and support the hypothesis that alteration of a specific COL2A1 domain, which may span from exons 12 to 24, leads to the Kniest dysplasia phenotype.","tracks":[{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":61,"end":77},"obj":"SpecificDisease:C537207"},{"id":"T2","span":{"begin":79,"end":95},"obj":"SpecificDisease:C537207"},{"id":"T3","span":{"begin":119,"end":141},"obj":"DiseaseClass:C535964"},{"id":"T4","span":{"begin":183,"end":197},"obj":"DiseaseClass:OMIM:610170"},{"id":"T5","span":{"begin":199,"end":217},"obj":"SpecificDisease:OMIM:300194"},{"id":"T6","span":{"begin":226,"end":232},"obj":"DiseaseClass:D009216"},{"id":"T7","span":{"begin":238,"end":250},"obj":"DiseaseClass:D034381"},{"id":"T8","span":{"begin":405,"end":421},"obj":"SpecificDisease:C537207"},{"id":"T9","span":{"begin":772,"end":788},"obj":"SpecificDisease:C537207"},{"id":"T10","span":{"begin":900,"end":916},"obj":"SpecificDisease:C537207"},{"id":"T11","span":{"begin":1326,"end":1342},"obj":"SpecificDisease:C537207"},{"id":"T12","span":{"begin":1512,"end":1528},"obj":"Modifier:C537207"}],"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"},{"subj":"T9","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T10","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T11","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T12","pred":"source","obj":"NCBIDiseaseCorpus"}]},{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":176,"end":181},"obj":"http://purl.obolibrary.org/obo/UBERON_0002101"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":166,"end":171},"obj":"http://purl.obolibrary.org/obo/UBERON_0002100"},{"id":"PD-UBERON-AE-B_T3","span":{"begin":47,"end":52},"obj":"http://purl.obolibrary.org/obo/UBERON_0002488"},{"id":"PD-UBERON-AE-B_T4","span":{"begin":199,"end":206},"obj":"http://purl.obolibrary.org/obo/UBERON_0004089"}],"attributes":[{"subj":"PD-UBERON-AE-B_T1","pred":"source","obj":"performance-test"},{"subj":"PD-UBERON-AE-B_T2","pred":"source","obj":"performance-test"},{"subj":"PD-UBERON-AE-B_T3","pred":"source","obj":"performance-test"},{"subj":"PD-UBERON-AE-B_T4","pred":"source","obj":"performance-test"}]},{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":160,"end":181},"obj":"HP_0009826"},{"id":"T2","span":{"begin":183,"end":197},"obj":"HP_0002751"},{"id":"T3","span":{"begin":219,"end":232},"obj":"HP_0011003"},{"id":"T4","span":{"begin":226,"end":232},"obj":"HP_0000545"},{"id":"T5","span":{"begin":238,"end":250},"obj":"HP_0000365"}],"attributes":[{"subj":"T1","pred":"source","obj":"PubmedHPO"},{"subj":"T2","pred":"source","obj":"PubmedHPO"},{"subj":"T3","pred":"source","obj":"PubmedHPO"},{"subj":"T4","pred":"source","obj":"PubmedHPO"},{"subj":"T5","pred":"source","obj":"PubmedHPO"}]},{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":305,"end":311},"obj":"gene:1280"},{"id":"T1","span":{"begin":405,"end":421},"obj":"disease:C0265279"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"attributes":[{"subj":"T0","pred":"source","obj":"DisGeNET"},{"subj":"T1","pred":"source","obj":"DisGeNET"}]},{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":78},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":79,"end":251},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":252,"end":422},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":423,"end":586},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":587,"end":685},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":686,"end":789},"obj":"Sentence"},{"id":"TextSentencer_T7","span":{"begin":790,"end":1043},"obj":"Sentence"},{"id":"TextSentencer_T8","span":{"begin":1044,"end":1189},"obj":"Sentence"},{"id":"TextSentencer_T9","span":{"begin":1190,"end":1301},"obj":"Sentence"},{"id":"TextSentencer_T10","span":{"begin":1302,"end":1539},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":78},"obj":"Sentence"},{"id":"T2","span":{"begin":79,"end":251},"obj":"Sentence"},{"id":"T3","span":{"begin":252,"end":422},"obj":"Sentence"},{"id":"T4","span":{"begin":423,"end":586},"obj":"Sentence"},{"id":"T5","span":{"begin":587,"end":685},"obj":"Sentence"},{"id":"T6","span":{"begin":686,"end":789},"obj":"Sentence"},{"id":"T7","span":{"begin":790,"end":1043},"obj":"Sentence"},{"id":"T8","span":{"begin":1044,"end":1189},"obj":"Sentence"},{"id":"T9","span":{"begin":1190,"end":1301},"obj":"Sentence"},{"id":"T10","span":{"begin":1302,"end":1539},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"attributes":[{"subj":"TextSentencer_T1","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T2","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T3","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T4","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T5","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T6","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T7","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T8","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T9","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T10","pred":"source","obj":"sentences"},{"subj":"T1","pred":"source","obj":"sentences"},{"subj":"T2","pred":"source","obj":"sentences"},{"subj":"T3","pred":"source","obj":"sentences"},{"subj":"T4","pred":"source","obj":"sentences"},{"subj":"T5","pred":"source","obj":"sentences"},{"subj":"T6","pred":"source","obj":"sentences"},{"subj":"T7","pred":"source","obj":"sentences"},{"subj":"T8","pred":"source","obj":"sentences"},{"subj":"T9","pred":"source","obj":"sentences"},{"subj":"T10","pred":"source","obj":"sentences"}]},{"project":"UBERON-AE","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":47,"end":52},"obj":"http://purl.obolibrary.org/obo/UBERON_0002488"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":166,"end":171},"obj":"http://purl.obolibrary.org/obo/UBERON_0002100"},{"id":"PD-UBERON-AE-B_T3","span":{"begin":176,"end":181},"obj":"http://purl.obolibrary.org/obo/UBERON_0002101"},{"id":"PD-UBERON-AE-B_T4","span":{"begin":199,"end":206},"obj":"http://purl.obolibrary.org/obo/UBERON_0004089"}],"attributes":[{"subj":"PD-UBERON-AE-B_T1","pred":"source","obj":"UBERON-AE"},{"subj":"PD-UBERON-AE-B_T2","pred":"source","obj":"UBERON-AE"},{"subj":"PD-UBERON-AE-B_T3","pred":"source","obj":"UBERON-AE"},{"subj":"PD-UBERON-AE-B_T4","pred":"source","obj":"UBERON-AE"}]},{"project":"PubCasesHPO","denotations":[{"id":"AB1","span":{"begin":183,"end":197},"obj":"HP:0002751"},{"id":"AB2","span":{"begin":219,"end":232},"obj":"HP:0011003"}],"attributes":[{"subj":"AB1","pred":"source","obj":"PubCasesHPO"},{"subj":"AB2","pred":"source","obj":"PubCasesHPO"}]},{"project":"PubCasesORDO","denotations":[{"id":"AB1","span":{"begin":79,"end":95},"obj":"ORDO:485"},{"id":"TI1","span":{"begin":61,"end":77},"obj":"ORDO:485"},{"id":"AB2","span":{"begin":405,"end":421},"obj":"ORDO:485"},{"id":"AB3","span":{"begin":772,"end":788},"obj":"ORDO:485"},{"id":"AB4","span":{"begin":900,"end":916},"obj":"ORDO:485"},{"id":"AB5","span":{"begin":1326,"end":1342},"obj":"ORDO:485"},{"id":"AB6","span":{"begin":1512,"end":1528},"obj":"ORDO:485"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"attributes":[{"subj":"AB1","pred":"source","obj":"PubCasesORDO"},{"subj":"TI1","pred":"source","obj":"PubCasesORDO"},{"subj":"AB2","pred":"source","obj":"PubCasesORDO"},{"subj":"AB3","pred":"source","obj":"PubCasesORDO"},{"subj":"AB4","pred":"source","obj":"PubCasesORDO"},{"subj":"AB5","pred":"source","obj":"PubCasesORDO"},{"subj":"AB6","pred":"source","obj":"PubCasesORDO"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10406661-9#146#152#gene1280","span":{"begin":1448,"end":1454},"obj":"gene1280"},{"id":"10406661-9#210#226#diseaseC0265279","span":{"begin":1512,"end":1528},"obj":"diseaseC0265279"}],"relations":[{"id":"146#152#gene1280210#226#diseaseC0265279","pred":"associated_with","subj":"10406661-9#146#152#gene1280","obj":"10406661-9#210#226#diseaseC0265279"}],"attributes":[{"subj":"10406661-9#146#152#gene1280","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"10406661-9#210#226#diseaseC0265279","pred":"source","obj":"DisGeNET5_gene_disease"}]},{"project":"NCBI-Disease-Train","denotations":[{"id":"T1730","span":{"begin":61,"end":77},"obj":"SpecificDisease"},{"id":"T1731","span":{"begin":79,"end":95},"obj":"SpecificDisease"},{"id":"T1732","span":{"begin":119,"end":141},"obj":"DiseaseClass"},{"id":"T1733","span":{"begin":183,"end":197},"obj":"DiseaseClass"},{"id":"T1734","span":{"begin":199,"end":217},"obj":"SpecificDisease"},{"id":"T1735","span":{"begin":226,"end":232},"obj":"DiseaseClass"},{"id":"T1736","span":{"begin":238,"end":250},"obj":"DiseaseClass"},{"id":"T1737","span":{"begin":405,"end":421},"obj":"SpecificDisease"},{"id":"T1738","span":{"begin":772,"end":788},"obj":"SpecificDisease"},{"id":"T1739","span":{"begin":900,"end":916},"obj":"SpecificDisease"},{"id":"T1740","span":{"begin":1326,"end":1342},"obj":"SpecificDisease"},{"id":"T1741","span":{"begin":1512,"end":1528},"obj":"Modifier"}],"attributes":[{"id":"A1730","pred":"database_id","subj":"T1730","obj":"C537207"},{"id":"A1731","pred":"database_id","subj":"T1731","obj":"C537207"},{"id":"A1732","pred":"database_id","subj":"T1732","obj":"C535964"},{"id":"A1733","pred":"database_id","subj":"T1733","obj":"OMIM:610170"},{"id":"A1734","pred":"database_id","subj":"T1734","obj":"OMIM:300194"},{"id":"A1735","pred":"database_id","subj":"T1735","obj":"D009216"},{"id":"A1736","pred":"database_id","subj":"T1736","obj":"D034381"},{"id":"A1737","pred":"database_id","subj":"T1737","obj":"C537207"},{"id":"A1738","pred":"database_id","subj":"T1738","obj":"C537207"},{"id":"A1739","pred":"database_id","subj":"T1739","obj":"C537207"},{"id":"A1740","pred":"database_id","subj":"T1740","obj":"C537207"},{"id":"A1741","pred":"database_id","subj":"T1741","obj":"C537207"},{"subj":"T1730","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T1731","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T1732","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T1733","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T1734","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T1735","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T1736","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T1737","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T1738","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T1739","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T1740","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T1741","pred":"source","obj":"NCBI-Disease-Train"}]},{"project":"NCBI-Disease-Corpus-All","denotations":[{"id":"T1730","span":{"begin":61,"end":77},"obj":"SpecificDisease"},{"id":"T1731","span":{"begin":79,"end":95},"obj":"SpecificDisease"},{"id":"T1732","span":{"begin":119,"end":141},"obj":"DiseaseClass"},{"id":"T1733","span":{"begin":183,"end":197},"obj":"DiseaseClass"},{"id":"T1734","span":{"begin":199,"end":217},"obj":"SpecificDisease"},{"id":"T1735","span":{"begin":226,"end":232},"obj":"DiseaseClass"},{"id":"T1736","span":{"begin":238,"end":250},"obj":"DiseaseClass"},{"id":"T1737","span":{"begin":405,"end":421},"obj":"SpecificDisease"},{"id":"T1738","span":{"begin":772,"end":788},"obj":"SpecificDisease"},{"id":"T1739","span":{"begin":900,"end":916},"obj":"SpecificDisease"},{"id":"T1740","span":{"begin":1326,"end":1342},"obj":"SpecificDisease"},{"id":"T1741","span":{"begin":1512,"end":1528},"obj":"Modifier"}],"attributes":[{"id":"A1730","pred":"database_id","subj":"T1730","obj":"C537207"},{"id":"A1731","pred":"database_id","subj":"T1731","obj":"C537207"},{"id":"A1732","pred":"database_id","subj":"T1732","obj":"C535964"},{"id":"A1733","pred":"database_id","subj":"T1733","obj":"OMIM:610170"},{"id":"A1734","pred":"database_id","subj":"T1734","obj":"OMIM:300194"},{"id":"A1735","pred":"database_id","subj":"T1735","obj":"D009216"},{"id":"A1736","pred":"database_id","subj":"T1736","obj":"D034381"},{"id":"A1737","pred":"database_id","subj":"T1737","obj":"C537207"},{"id":"A1738","pred":"database_id","subj":"T1738","obj":"C537207"},{"id":"A1739","pred":"database_id","subj":"T1739","obj":"C537207"},{"id":"A1740","pred":"database_id","subj":"T1740","obj":"C537207"},{"id":"A1741","pred":"database_id","subj":"T1741","obj":"C537207"},{"subj":"T1730","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T1731","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T1732","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T1733","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T1734","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T1735","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T1736","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T1737","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T1738","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T1739","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T1740","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T1741","pred":"source","obj":"NCBI-Disease-Corpus-All"}]},{"project":"NCBI-Disease-Corpus-2stage-All","denotations":[{"id":"T1","span":{"begin":61,"end":77},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":79,"end":95},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":405,"end":421},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":772,"end":788},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":900,"end":916},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":1326,"end":1342},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":1512,"end":1528},"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"},{"subj":"T7","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"}]},{"project":"NCBI-Disease-Corpus-rezarta-All","denotations":[{"id":"T1","span":{"begin":61,"end":77},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":79,"end":95},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":405,"end":421},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":772,"end":788},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":900,"end":916},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":1326,"end":1342},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":1512,"end":1528},"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"},{"subj":"T7","pred":"source","obj":"NCBI-Disease-Corpus-rezarta-All"}]},{"project":"NCBI-Disease-Corpus-4oGuideline-All","denotations":[{"id":"T1","span":{"begin":61,"end":77},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":79,"end":95},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":405,"end":421},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":772,"end":788},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":900,"end":916},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":1326,"end":1342},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":1512,"end":1528},"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"},{"subj":"T6","pred":"source","obj":"NCBI-Disease-Corpus-4oGuideline-All"},{"subj":"T7","pred":"source","obj":"NCBI-Disease-Corpus-4oGuideline-All"}]},{"project":"NCBI-Disease-Corpus-Simple-All","denotations":[{"id":"T1","span":{"begin":61,"end":77},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":79,"end":95},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":405,"end":421},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":772,"end":788},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":900,"end":916},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":1326,"end":1342},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":1512,"end":1528},"obj":"SpecificDisease"}],"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"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"NCBIDiseaseCorpus","color":"#ecdf93","default":true},{"id":"performance-test","color":"#c593ec"},{"id":"PubmedHPO","color":"#93ecab"},{"id":"DisGeNET","color":"#ec9394"},{"id":"sentences","color":"#93afec"},{"id":"UBERON-AE","color":"#c9ec93"},{"id":"PubCasesHPO","color":"#ec93e3"},{"id":"PubCasesORDO","color":"#93ecdb"},{"id":"DisGeNET5_gene_disease","color":"#ecc193"},{"id":"NCBI-Disease-Train","color":"#a793ec"},{"id":"NCBI-Disease-Corpus-All","color":"#98ec93"},{"id":"NCBI-Disease-Corpus-2stage-All","color":"#ec93b2"},{"id":"NCBI-Disease-Corpus-rezarta-All","color":"#93ccec"},{"id":"NCBI-Disease-Corpus-4oGuideline-All","color":"#e6ec93"},{"id":"NCBI-Disease-Corpus-Simple-All","color":"#d793ec"}]}]}}