PubMed:8863162 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/8863162","sourcedb":"PubMed","sourceid":"8863162","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/8863162","text":"Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.\nWe describe two female monozygotic (MZ) twins heterozygous for Fabry disease, an X linked disorder resulting from the deficient activity of alpha-galactosidase A. While one of the twins was clinically affected, the other was asymptomatic. Enzymatic assay of alpha-galactosidase in blood leucocytes, skin fibroblasts, Epstein-Barr virus transformed lymphoid cell lines, and hair follicles of the twins and their parents confirmed the heterozygous status of the twins and indicated that Fabry disease had occurred as a result of a de novo mutation. The son of the unaffected twin sister was shown to be hemizygous. Molecular analysis of the alpha-galactosidase A gene permitted the identification of an as yet undescribed point mutation at position 10182 of exon 5 which causes an Asp to Asn substitution at codon 231. Single strand conformation polymorphism (SSCP) analysis again showed the heterozygous status of the twins and a normal pattern in their parents. The basis for the discordant expression of this d novo mutation in the twins was investigated by studying their X inactivation status. Analysis of the inactive X specific methylation at the androgen receptor gene showed unbalanced inactivation in the twins' fibroblasts and in opposite directions. While the maternally derived X chromosome was preferentially active in the asymptomatic twin, the paternal X chromosome was active in the other, affected twin and was found in her hemizygotic nephew. These data suggest that the paternal X chromosome carries the de novo alpha-galactosidase A mutation and that uneven X inactivation is the underlying mechanism for disease expression in this novel female MZ twin pair. This is the first documented case of female twins discordant for Fabry disease.","tracks":[{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":155},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":156,"end":318},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":319,"end":394},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":395,"end":702},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":703,"end":768},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":769,"end":972},"obj":"Sentence"},{"id":"TextSentencer_T7","span":{"begin":973,"end":1117},"obj":"Sentence"},{"id":"TextSentencer_T8","span":{"begin":1118,"end":1252},"obj":"Sentence"},{"id":"TextSentencer_T9","span":{"begin":1253,"end":1415},"obj":"Sentence"},{"id":"TextSentencer_T10","span":{"begin":1416,"end":1615},"obj":"Sentence"},{"id":"TextSentencer_T11","span":{"begin":1616,"end":1833},"obj":"Sentence"},{"id":"TextSentencer_T12","span":{"begin":1834,"end":1913},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":155},"obj":"Sentence"},{"id":"T2","span":{"begin":156,"end":318},"obj":"Sentence"},{"id":"T3","span":{"begin":319,"end":394},"obj":"Sentence"},{"id":"T4","span":{"begin":395,"end":702},"obj":"Sentence"},{"id":"T5","span":{"begin":703,"end":768},"obj":"Sentence"},{"id":"T6","span":{"begin":769,"end":972},"obj":"Sentence"},{"id":"T7","span":{"begin":973,"end":1117},"obj":"Sentence"},{"id":"T8","span":{"begin":1118,"end":1252},"obj":"Sentence"},{"id":"T9","span":{"begin":1253,"end":1415},"obj":"Sentence"},{"id":"T10","span":{"begin":1416,"end":1615},"obj":"Sentence"},{"id":"T11","span":{"begin":1616,"end":1833},"obj":"Sentence"},{"id":"T12","span":{"begin":1834,"end":1913},"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":"TextSentencer_T11","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T12","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"},{"subj":"T11","pred":"source","obj":"sentences"},{"subj":"T12","pred":"source","obj":"sentences"}]},{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":128,"end":149},"obj":"gene:2717"},{"id":"T1","span":{"begin":61,"end":74},"obj":"disease:C0002986"}],"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":"jnlpba-st-training","denotations":[{"id":"T1","span":{"begin":7,"end":8},"obj":"DNA"},{"id":"T2","span":{"begin":128,"end":154},"obj":"DNA"},{"id":"T3","span":{"begin":296,"end":317},"obj":"protein"},{"id":"T4","span":{"begin":414,"end":433},"obj":"protein"},{"id":"T5","span":{"begin":437,"end":453},"obj":"cell_type"},{"id":"T6","span":{"begin":455,"end":471},"obj":"cell_type"},{"id":"T7","span":{"begin":473,"end":523},"obj":"cell_line"},{"id":"T8","span":{"begin":795,"end":821},"obj":"DNA"},{"id":"T9","span":{"begin":894,"end":918},"obj":"DNA"},{"id":"T10","span":{"begin":962,"end":971},"obj":"DNA"},{"id":"T11","span":{"begin":1269,"end":1279},"obj":"DNA"},{"id":"T12","span":{"begin":1308,"end":1330},"obj":"DNA"},{"id":"T13","span":{"begin":1426,"end":1457},"obj":"DNA"},{"id":"T14","span":{"begin":1514,"end":1535},"obj":"DNA"},{"id":"T15","span":{"begin":1644,"end":1665},"obj":"DNA"},{"id":"T16","span":{"begin":1686,"end":1707},"obj":"protein"}],"attributes":[{"subj":"T1","pred":"source","obj":"jnlpba-st-training"},{"subj":"T2","pred":"source","obj":"jnlpba-st-training"},{"subj":"T3","pred":"source","obj":"jnlpba-st-training"},{"subj":"T4","pred":"source","obj":"jnlpba-st-training"},{"subj":"T5","pred":"source","obj":"jnlpba-st-training"},{"subj":"T6","pred":"source","obj":"jnlpba-st-training"},{"subj":"T7","pred":"source","obj":"jnlpba-st-training"},{"subj":"T8","pred":"source","obj":"jnlpba-st-training"},{"subj":"T9","pred":"source","obj":"jnlpba-st-training"},{"subj":"T10","pred":"source","obj":"jnlpba-st-training"},{"subj":"T11","pred":"source","obj":"jnlpba-st-training"},{"subj":"T12","pred":"source","obj":"jnlpba-st-training"},{"subj":"T13","pred":"source","obj":"jnlpba-st-training"},{"subj":"T14","pred":"source","obj":"jnlpba-st-training"},{"subj":"T15","pred":"source","obj":"jnlpba-st-training"},{"subj":"T16","pred":"source","obj":"jnlpba-st-training"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"8863162-0#128#149#gene2717","span":{"begin":128,"end":149},"obj":"gene2717"},{"id":"8863162-0#61#74#diseaseC0002986","span":{"begin":61,"end":74},"obj":"diseaseC0002986"}],"relations":[{"id":"128#149#gene271761#74#diseaseC0002986","pred":"associated_with","subj":"8863162-0#128#149#gene2717","obj":"8863162-0#61#74#diseaseC0002986"}],"attributes":[{"subj":"8863162-0#128#149#gene2717","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"8863162-0#61#74#diseaseC0002986","pred":"source","obj":"DisGeNET5_gene_disease"}]},{"project":"pubmed-sentences-benchmark","denotations":[{"id":"S1","span":{"begin":0,"end":155},"obj":"Sentence"},{"id":"S2","span":{"begin":156,"end":318},"obj":"Sentence"},{"id":"S3","span":{"begin":319,"end":394},"obj":"Sentence"},{"id":"S4","span":{"begin":395,"end":702},"obj":"Sentence"},{"id":"S5","span":{"begin":703,"end":768},"obj":"Sentence"},{"id":"S6","span":{"begin":769,"end":972},"obj":"Sentence"},{"id":"S7","span":{"begin":973,"end":1117},"obj":"Sentence"},{"id":"S8","span":{"begin":1118,"end":1252},"obj":"Sentence"},{"id":"S9","span":{"begin":1253,"end":1415},"obj":"Sentence"},{"id":"S10","span":{"begin":1416,"end":1615},"obj":"Sentence"},{"id":"S11","span":{"begin":1616,"end":1833},"obj":"Sentence"},{"id":"S12","span":{"begin":1834,"end":1913},"obj":"Sentence"}],"attributes":[{"subj":"S1","pred":"source","obj":"pubmed-sentences-benchmark"},{"subj":"S2","pred":"source","obj":"pubmed-sentences-benchmark"},{"subj":"S3","pred":"source","obj":"pubmed-sentences-benchmark"},{"subj":"S4","pred":"source","obj":"pubmed-sentences-benchmark"},{"subj":"S5","pred":"source","obj":"pubmed-sentences-benchmark"},{"subj":"S6","pred":"source","obj":"pubmed-sentences-benchmark"},{"subj":"S7","pred":"source","obj":"pubmed-sentences-benchmark"},{"subj":"S8","pred":"source","obj":"pubmed-sentences-benchmark"},{"subj":"S9","pred":"source","obj":"pubmed-sentences-benchmark"},{"subj":"S10","pred":"source","obj":"pubmed-sentences-benchmark"},{"subj":"S11","pred":"source","obj":"pubmed-sentences-benchmark"},{"subj":"S12","pred":"source","obj":"pubmed-sentences-benchmark"}]},{"project":"genia-medco-coref","denotations":[{"id":"C2","span":{"begin":61,"end":74},"obj":"NP"},{"id":"C1","span":{"begin":25,"end":74},"obj":"NP"},{"id":"C5","span":{"begin":124,"end":154},"obj":"NP"},{"id":"C3","span":{"begin":219,"end":232},"obj":"NP"},{"id":"C4","span":{"begin":168,"end":232},"obj":"NP"},{"id":"C6","span":{"begin":296,"end":317},"obj":"NP"},{"id":"C7","span":{"begin":332,"end":341},"obj":"NP"},{"id":"C8","span":{"begin":325,"end":341},"obj":"NP"},{"id":"C9","span":{"begin":367,"end":376},"obj":"NP"},{"id":"C10","span":{"begin":547,"end":556},"obj":"NP"},{"id":"C21","span":{"begin":561,"end":566},"obj":"NP"},{"id":"C11","span":{"begin":561,"end":574},"obj":"NP"},{"id":"C12","span":{"begin":612,"end":621},"obj":"NP"},{"id":"C18","span":{"begin":585,"end":621},"obj":"NP"},{"id":"C13","span":{"begin":641,"end":654},"obj":"NP"},{"id":"C14","span":{"begin":791,"end":821},"obj":"NP"},{"id":"C15","span":{"begin":894,"end":918},"obj":"NP"},{"id":"C16","span":{"begin":919,"end":924},"obj":"NP"},{"id":"C17","span":{"begin":1069,"end":1078},"obj":"NP"},{"id":"C19","span":{"begin":1042,"end":1078},"obj":"NP"},{"id":"C22","span":{"begin":1103,"end":1108},"obj":"NP"},{"id":"C20","span":{"begin":1103,"end":1116},"obj":"NP"},{"id":"C23","span":{"begin":1185,"end":1194},"obj":"NP"},{"id":"C24","span":{"begin":1224,"end":1229},"obj":"NP"},{"id":"C25","span":{"begin":1365,"end":1375},"obj":"NP"},{"id":"C26","span":{"begin":1487,"end":1508},"obj":"NP"},{"id":"C30","span":{"begin":1510,"end":1535},"obj":"NP"},{"id":"C28","span":{"begin":1550,"end":1574},"obj":"NP"},{"id":"C29","span":{"begin":1592,"end":1595},"obj":"NP"},{"id":"C31","span":{"begin":1640,"end":1665},"obj":"NP"},{"id":"C32","span":{"begin":1802,"end":1832},"obj":"NP"},{"id":"C34","span":{"begin":1834,"end":1838},"obj":"NP"},{"id":"C33","span":{"begin":1899,"end":1912},"obj":"NP"},{"id":"C35","span":{"begin":1842,"end":1912},"obj":"NP"}],"relations":[{"id":"R1","pred":"coref-ident","subj":"C3","obj":"C2"},{"id":"R2","pred":"coref-ident","subj":"C4","obj":"C1"},{"id":"R3","pred":"coref-ident","subj":"C6","obj":"C5"},{"id":"R4","pred":"coref-ident","subj":"C7","obj":"C4"},{"id":"R5","pred":"coref-part-whole","subj":"C8","obj":"C4"},{"id":"R6","pred":"coref-part-whole","subj":"C9","obj":"C4"},{"id":"R7","pred":"coref-ident","subj":"C10","obj":"C7"},{"id":"R8","pred":"coref-pron","subj":"C21","obj":"C10"},{"id":"R9","pred":"coref-ident","subj":"C12","obj":"C10"},{"id":"R10","pred":"coref-ident","subj":"C13","obj":"C3"},{"id":"R11","pred":"coref-ident","subj":"C14","obj":"C5"},{"id":"R12","pred":"coref-relat","subj":"C16","obj":"C15"},{"id":"R13","pred":"coref-ident","subj":"C17","obj":"C12"},{"id":"R14","pred":"coref-ident","subj":"C19","obj":"C18"},{"id":"R15","pred":"coref-pron","subj":"C22","obj":"C17"},{"id":"R16","pred":"coref-ident","subj":"C20","obj":"C11"},{"id":"R17","pred":"coref-ident","subj":"C23","obj":"C17"},{"id":"R18","pred":"coref-pron","subj":"C24","obj":"C23"},{"id":"R19","pred":"coref-ident","subj":"C25","obj":"C23"},{"id":"R20","pred":"coref-ident","subj":"C26","obj":"C9"},{"id":"R21","pred":"coref-ident","subj":"C28","obj":"C8"},{"id":"R22","pred":"coref-pron","subj":"C29","obj":"C28"},{"id":"R23","pred":"coref-ident","subj":"C31","obj":"C30"},{"id":"R24","pred":"coref-ident","subj":"C32","obj":"C1"},{"id":"R25","pred":"coref-ident","subj":"C33","obj":"C13"},{"id":"R26","pred":"coref-ident","subj":"C35","obj":"C34"}],"attributes":[{"subj":"C2","pred":"source","obj":"genia-medco-coref"},{"subj":"C1","pred":"source","obj":"genia-medco-coref"},{"subj":"C5","pred":"source","obj":"genia-medco-coref"},{"subj":"C3","pred":"source","obj":"genia-medco-coref"},{"subj":"C4","pred":"source","obj":"genia-medco-coref"},{"subj":"C6","pred":"source","obj":"genia-medco-coref"},{"subj":"C7","pred":"source","obj":"genia-medco-coref"},{"subj":"C8","pred":"source","obj":"genia-medco-coref"},{"subj":"C9","pred":"source","obj":"genia-medco-coref"},{"subj":"C10","pred":"source","obj":"genia-medco-coref"},{"subj":"C21","pred":"source","obj":"genia-medco-coref"},{"subj":"C11","pred":"source","obj":"genia-medco-coref"},{"subj":"C12","pred":"source","obj":"genia-medco-coref"},{"subj":"C18","pred":"source","obj":"genia-medco-coref"},{"subj":"C13","pred":"source","obj":"genia-medco-coref"},{"subj":"C14","pred":"source","obj":"genia-medco-coref"},{"subj":"C15","pred":"source","obj":"genia-medco-coref"},{"subj":"C16","pred":"source","obj":"genia-medco-coref"},{"subj":"C17","pred":"source","obj":"genia-medco-coref"},{"subj":"C19","pred":"source","obj":"genia-medco-coref"},{"subj":"C22","pred":"source","obj":"genia-medco-coref"},{"subj":"C20","pred":"source","obj":"genia-medco-coref"},{"subj":"C23","pred":"source","obj":"genia-medco-coref"},{"subj":"C24","pred":"source","obj":"genia-medco-coref"},{"subj":"C25","pred":"source","obj":"genia-medco-coref"},{"subj":"C26","pred":"source","obj":"genia-medco-coref"},{"subj":"C30","pred":"source","obj":"genia-medco-coref"},{"subj":"C28","pred":"source","obj":"genia-medco-coref"},{"subj":"C29","pred":"source","obj":"genia-medco-coref"},{"subj":"C31","pred":"source","obj":"genia-medco-coref"},{"subj":"C32","pred":"source","obj":"genia-medco-coref"},{"subj":"C34","pred":"source","obj":"genia-medco-coref"},{"subj":"C33","pred":"source","obj":"genia-medco-coref"},{"subj":"C35","pred":"source","obj":"genia-medco-coref"}]},{"project":"GENIAcorpus","denotations":[{"id":"T1","span":{"begin":7,"end":8},"obj":"DNA_molecule"},{"id":"T2","span":{"begin":27,"end":55},"obj":"multi_cell"},{"id":"T3","span":{"begin":61,"end":74},"obj":"other_name"},{"id":"T4","span":{"begin":106,"end":120},"obj":"other_name"},{"id":"T5","span":{"begin":128,"end":154},"obj":"DNA_domain_or_region"},{"id":"T6","span":{"begin":168,"end":201},"obj":"multi_cell"},{"id":"T7","span":{"begin":219,"end":232},"obj":"other_name"},{"id":"T8","span":{"begin":237,"end":254},"obj":"other_name"},{"id":"T9","span":{"begin":296,"end":317},"obj":"protein_molecule"},{"id":"T10","span":{"begin":336,"end":341},"obj":"multi_cell"},{"id":"T11","span":{"begin":414,"end":433},"obj":"protein_molecule"},{"id":"T12","span":{"begin":437,"end":453},"obj":"cell_type"},{"id":"T13","span":{"begin":455,"end":471},"obj":"cell_type"},{"id":"T14","span":{"begin":473,"end":491},"obj":"virus"},{"id":"T15","span":{"begin":529,"end":543},"obj":"tissue"},{"id":"T16","span":{"begin":551,"end":556},"obj":"multi_cell"},{"id":"T17","span":{"begin":567,"end":574},"obj":"multi_cell"},{"id":"T18","span":{"begin":589,"end":608},"obj":"other_name"},{"id":"T19","span":{"begin":616,"end":621},"obj":"multi_cell"},{"id":"T20","span":{"begin":641,"end":654},"obj":"other_name"},{"id":"T21","span":{"begin":795,"end":814},"obj":"protein_molecule"},{"id":"T22","span":{"begin":894,"end":908},"obj":"DNA_domain_or_region"},{"id":"T23","span":{"begin":912,"end":918},"obj":"DNA_domain_or_region"},{"id":"T24","span":{"begin":935,"end":938},"obj":"amino_acid_monomer"},{"id":"T25","span":{"begin":942,"end":945},"obj":"amino_acid_monomer"},{"id":"T26","span":{"begin":962,"end":971},"obj":"DNA_domain_or_region"},{"id":"T27","span":{"begin":973,"end":1028},"obj":"other_name"},{"id":"T28","span":{"begin":1046,"end":1065},"obj":"other_name"},{"id":"T29","span":{"begin":1073,"end":1078},"obj":"multi_cell"},{"id":"T30","span":{"begin":1085,"end":1099},"obj":"other_name"},{"id":"T31","span":{"begin":1109,"end":1116},"obj":"multi_cell"},{"id":"T32","span":{"begin":1136,"end":1157},"obj":"other_name"},{"id":"T33","span":{"begin":1166,"end":1181},"obj":"other_name"},{"id":"T34","span":{"begin":1189,"end":1194},"obj":"multi_cell"},{"id":"T35","span":{"begin":1230,"end":1244},"obj":"other_name"},{"id":"T36","span":{"begin":1269,"end":1279},"obj":"DNA_molecule"},{"id":"T37","span":{"begin":1308,"end":1330},"obj":"DNA_domain_or_region"},{"id":"T38","span":{"begin":1369,"end":1374},"obj":"multi_cell"},{"id":"T39","span":{"begin":1426,"end":1444},"obj":"DNA_molecule"},{"id":"T40","span":{"begin":1445,"end":1457},"obj":"DNA_molecule"},{"id":"T41","span":{"begin":1491,"end":1508},"obj":"multi_cell"},{"id":"T42","span":{"begin":1514,"end":1522},"obj":"DNA_molecule"},{"id":"T43","span":{"begin":1523,"end":1535},"obj":"DNA_molecule"},{"id":"T44","span":{"begin":1596,"end":1614},"obj":"multi_cell"},{"id":"T45","span":{"begin":1644,"end":1652},"obj":"DNA_molecule"},{"id":"T46","span":{"begin":1653,"end":1665},"obj":"DNA_molecule"},{"id":"T47","span":{"begin":1686,"end":1705},"obj":"protein_molecule"},{"id":"T48","span":{"begin":1733,"end":1747},"obj":"other_name"},{"id":"T49","span":{"begin":1780,"end":1798},"obj":"other_name"},{"id":"T50","span":{"begin":1807,"end":1832},"obj":"multi_cell"},{"id":"T51","span":{"begin":1878,"end":1883},"obj":"multi_cell"},{"id":"T52","span":{"begin":1899,"end":1912},"obj":"other_name"}],"attributes":[{"subj":"T1","pred":"source","obj":"GENIAcorpus"},{"subj":"T2","pred":"source","obj":"GENIAcorpus"},{"subj":"T3","pred":"source","obj":"GENIAcorpus"},{"subj":"T4","pred":"source","obj":"GENIAcorpus"},{"subj":"T5","pred":"source","obj":"GENIAcorpus"},{"subj":"T6","pred":"source","obj":"GENIAcorpus"},{"subj":"T7","pred":"source","obj":"GENIAcorpus"},{"subj":"T8","pred":"source","obj":"GENIAcorpus"},{"subj":"T9","pred":"source","obj":"GENIAcorpus"},{"subj":"T10","pred":"source","obj":"GENIAcorpus"},{"subj":"T11","pred":"source","obj":"GENIAcorpus"},{"subj":"T12","pred":"source","obj":"GENIAcorpus"},{"subj":"T13","pred":"source","obj":"GENIAcorpus"},{"subj":"T14","pred":"source","obj":"GENIAcorpus"},{"subj":"T15","pred":"source","obj":"GENIAcorpus"},{"subj":"T16","pred":"source","obj":"GENIAcorpus"},{"subj":"T17","pred":"source","obj":"GENIAcorpus"},{"subj":"T18","pred":"source","obj":"GENIAcorpus"},{"subj":"T19","pred":"source","obj":"GENIAcorpus"},{"subj":"T20","pred":"source","obj":"GENIAcorpus"},{"subj":"T21","pred":"source","obj":"GENIAcorpus"},{"subj":"T22","pred":"source","obj":"GENIAcorpus"},{"subj":"T23","pred":"source","obj":"GENIAcorpus"},{"subj":"T24","pred":"source","obj":"GENIAcorpus"},{"subj":"T25","pred":"source","obj":"GENIAcorpus"},{"subj":"T26","pred":"source","obj":"GENIAcorpus"},{"subj":"T27","pred":"source","obj":"GENIAcorpus"},{"subj":"T28","pred":"source","obj":"GENIAcorpus"},{"subj":"T29","pred":"source","obj":"GENIAcorpus"},{"subj":"T30","pred":"source","obj":"GENIAcorpus"},{"subj":"T31","pred":"source","obj":"GENIAcorpus"},{"subj":"T32","pred":"source","obj":"GENIAcorpus"},{"subj":"T33","pred":"source","obj":"GENIAcorpus"},{"subj":"T34","pred":"source","obj":"GENIAcorpus"},{"subj":"T35","pred":"source","obj":"GENIAcorpus"},{"subj":"T36","pred":"source","obj":"GENIAcorpus"},{"subj":"T37","pred":"source","obj":"GENIAcorpus"},{"subj":"T38","pred":"source","obj":"GENIAcorpus"},{"subj":"T39","pred":"source","obj":"GENIAcorpus"},{"subj":"T40","pred":"source","obj":"GENIAcorpus"},{"subj":"T41","pred":"source","obj":"GENIAcorpus"},{"subj":"T42","pred":"source","obj":"GENIAcorpus"},{"subj":"T43","pred":"source","obj":"GENIAcorpus"},{"subj":"T44","pred":"source","obj":"GENIAcorpus"},{"subj":"T45","pred":"source","obj":"GENIAcorpus"},{"subj":"T46","pred":"source","obj":"GENIAcorpus"},{"subj":"T47","pred":"source","obj":"GENIAcorpus"},{"subj":"T48","pred":"source","obj":"GENIAcorpus"},{"subj":"T49","pred":"source","obj":"GENIAcorpus"},{"subj":"T50","pred":"source","obj":"GENIAcorpus"},{"subj":"T51","pred":"source","obj":"GENIAcorpus"},{"subj":"T52","pred":"source","obj":"GENIAcorpus"}]},{"project":"UBERON-AE","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":437,"end":442},"obj":"http://purl.obolibrary.org/obo/UBERON_0000178"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":529,"end":543},"obj":"http://purl.obolibrary.org/obo/UBERON_0002073"}],"attributes":[{"subj":"PD-UBERON-AE-B_T1","pred":"source","obj":"UBERON-AE"},{"subj":"PD-UBERON-AE-B_T2","pred":"source","obj":"UBERON-AE"}]},{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":61,"end":74},"obj":"ORDO:324"},{"id":"AB1","span":{"begin":219,"end":232},"obj":"ORDO:324"},{"id":"AB2","span":{"begin":641,"end":654},"obj":"ORDO:324"},{"id":"AB3","span":{"begin":935,"end":938},"obj":"ORDO:63442"},{"id":"AB4","span":{"begin":1899,"end":1912},"obj":"ORDO:324"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"attributes":[{"subj":"TI1","pred":"source","obj":"PubCasesORDO"},{"subj":"AB1","pred":"source","obj":"PubCasesORDO"},{"subj":"AB2","pred":"source","obj":"PubCasesORDO"},{"subj":"AB3","pred":"source","obj":"PubCasesORDO"},{"subj":"AB4","pred":"source","obj":"PubCasesORDO"}]},{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":437,"end":442},"obj":"http://purl.obolibrary.org/obo/UBERON_0000178"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":529,"end":543},"obj":"http://purl.obolibrary.org/obo/UBERON_0002073"}],"attributes":[{"subj":"PD-UBERON-AE-B_T1","pred":"source","obj":"performance-test"},{"subj":"PD-UBERON-AE-B_T2","pred":"source","obj":"performance-test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"sentences","color":"#93ecd7","default":true},{"id":"DisGeNET","color":"#ecbc93"},{"id":"jnlpba-st-training","color":"#a293ec"},{"id":"DisGeNET5_gene_disease","color":"#9dec93"},{"id":"pubmed-sentences-benchmark","color":"#ec93b7"},{"id":"genia-medco-coref","color":"#93d1ec"},{"id":"GENIAcorpus","color":"#ebec93"},{"id":"UBERON-AE","color":"#d393ec"},{"id":"PubCasesORDO","color":"#93ecb9"},{"id":"performance-test","color":"#ec9f93"}]}]}}