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PubMed:15177686 JSONTXT

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LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
778 34-38 GeneOrGeneProduct denotes HIRA NCBIGene:7290
779 39-45 GeneOrGeneProduct denotes Tuple1 NCBIGene:7290
780 59-98 DiseaseOrPhenotypicFeature denotes DiGeorge and Velocardiofacial syndromes MESH:D004062
781 100-139 DiseaseOrPhenotypicFeature denotes DiGeorge and Velocardiofacial syndromes MESH:D004062
782 141-144 DiseaseOrPhenotypicFeature denotes DGS MESH:D004062
783 145-149 DiseaseOrPhenotypicFeature denotes VCFS MESH:D004062
784 204-258 DiseaseOrPhenotypicFeature denotes cardiovascular, craniofacial, and thymic malformations MESH:D018376|MESH:D019465
785 608-611 DiseaseOrPhenotypicFeature denotes DGS MESH:D004062
786 612-616 DiseaseOrPhenotypicFeature denotes VCFS MESH:D004062
787 675-679 GeneOrGeneProduct denotes HIRA NCBIGene:7290
788 680-686 GeneOrGeneProduct denotes Tuple1 NCBIGene:7290
789 724-727 DiseaseOrPhenotypicFeature denotes DGS MESH:D004062
790 728-732 DiseaseOrPhenotypicFeature denotes VCFS MESH:D004062
791 845-849 GeneOrGeneProduct denotes HIRA NCBIGene:7290
792 850-856 GeneOrGeneProduct denotes Tuple1 NCBIGene:7290
793 1214-1217 DiseaseOrPhenotypicFeature denotes DGS MESH:D004062
794 1218-1222 DiseaseOrPhenotypicFeature denotes VCFS MESH:D004062

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-99 Sentence denotes Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes.
T2 100-333 Sentence denotes DiGeorge and Velocardiofacial syndromes (DGS/VCFS) are endowed by a similar complex phenotype including cardiovascular, craniofacial, and thymic malformations, and are associated with heterozygous deletions of 22q11 chromosomal band.
T3 334-504 Sentence denotes The Typically Deleted Region in the 22q11.21 subband (here called TDR22) is very gene-dense, and the extent of the deletion has been defined precisely in several studies.
T4 505-627 Sentence denotes However, to date there is no evidence for a mechanism of haploinsufficiency that can fully explain the DGS/VCFS phenotype.
T5 628-780 Sentence denotes In this study, we show that the candidate gene HIRA/Tuple1 mapping on the non-deleted TDR22, in DGS/VCFS subjects presents a delayed replication timing.
T6 781-902 Sentence denotes Moreover, we observed an increase in the cell ratio showing the HIRA/Tuple1 locus localised toward the nuclear periphery.
T7 903-1042 Sentence denotes It is known that replication timing and nuclear location are generally correlated to the transcription activity of the relative DNA region.
T8 1043-1223 Sentence denotes We propose that the alteration in the replication/nuclear location pattern of the non-deleted TDR22 indicates an altered gene regulation hence an altered transcritpion in DGS/VCFS.

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 72-98 DiseaseOrPhenotypicFeature denotes Velocardiofacial syndromes 0008644
T2 113-139 DiseaseOrPhenotypicFeature denotes Velocardiofacial syndromes 0008644

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 34-38 GeneOrGeneProduct denotes HIRA
T2 39-45 GeneOrGeneProduct denotes Tuple1
T3 89-98 GeneOrGeneProduct denotes syndromes
T4 130-139 GeneOrGeneProduct denotes syndromes
T5 145-149 GeneOrGeneProduct denotes VCFS
T6 168-175 GeneOrGeneProduct denotes similar
T7 245-258 GeneOrGeneProduct denotes malformations
T8 328-332 GeneOrGeneProduct denotes band
T9 393-399 GeneOrGeneProduct denotes called
T10 420-425 GeneOrGeneProduct denotes dense
T11 562-580 GeneOrGeneProduct denotes haploinsufficiency
T12 612-616 GeneOrGeneProduct denotes VCFS
T13 675-679 GeneOrGeneProduct denotes HIRA
T14 680-686 GeneOrGeneProduct denotes Tuple1
T15 728-732 GeneOrGeneProduct denotes VCFS
T16 822-826 GeneOrGeneProduct denotes cell
T17 845-849 GeneOrGeneProduct denotes HIRA
T18 850-856 GeneOrGeneProduct denotes Tuple1
T19 992-1005 GeneOrGeneProduct denotes transcription
T20 1006-1014 GeneOrGeneProduct denotes activity
T21 1169-1179 GeneOrGeneProduct denotes regulation
T22 1218-1222 GeneOrGeneProduct denotes VCFS

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 34-38 GeneOrGeneProduct denotes HIRA
T2 39-45 GeneOrGeneProduct denotes Tuple1
T3 89-98 GeneOrGeneProduct denotes syndromes
T4 130-139 GeneOrGeneProduct denotes syndromes
T5 145-149 GeneOrGeneProduct denotes VCFS
T6 168-175 GeneOrGeneProduct denotes similar
T7 328-332 GeneOrGeneProduct denotes band
T8 420-425 GeneOrGeneProduct denotes dense
T9 612-616 GeneOrGeneProduct denotes VCFS
T10 675-679 GeneOrGeneProduct denotes HIRA
T11 680-686 GeneOrGeneProduct denotes Tuple1
T12 728-732 GeneOrGeneProduct denotes VCFS
T13 822-826 GeneOrGeneProduct denotes cell
T14 845-849 GeneOrGeneProduct denotes HIRA
T15 850-856 GeneOrGeneProduct denotes Tuple1
T16 992-1005 GeneOrGeneProduct denotes transcription
T17 1218-1222 GeneOrGeneProduct denotes VCFS

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 72-98 DiseaseOrPhenotypicFeature denotes Velocardiofacial syndromes D004062
T2 113-139 DiseaseOrPhenotypicFeature denotes Velocardiofacial syndromes D004062

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 34-38 GeneOrGeneProduct denotes HIRA
T2 39-45 GeneOrGeneProduct denotes Tuple1
T3 420-425 GeneOrGeneProduct denotes dense
T4 675-679 GeneOrGeneProduct denotes HIRA
T5 680-686 GeneOrGeneProduct denotes Tuple1
T6 845-849 GeneOrGeneProduct denotes HIRA
T7 850-856 GeneOrGeneProduct denotes Tuple1
T8 992-1014 GeneOrGeneProduct denotes transcription activity

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 72-98 DiseaseOrPhenotypicFeature denotes Velocardiofacial syndromes 0018923|0008644|0008564
T4 113-139 DiseaseOrPhenotypicFeature denotes Velocardiofacial syndromes 0018923|0008644|0008564
T7 141-144 DiseaseOrPhenotypicFeature denotes DGS 0008564
T8 145-149 DiseaseOrPhenotypicFeature denotes VCFS 0018923
T9 586-589 DiseaseOrPhenotypicFeature denotes can 0012833
T10 608-611 DiseaseOrPhenotypicFeature denotes DGS 0008564
T11 612-616 DiseaseOrPhenotypicFeature denotes VCFS 0018923
T12 724-727 DiseaseOrPhenotypicFeature denotes DGS 0008564
T13 728-732 DiseaseOrPhenotypicFeature denotes VCFS 0018923
T14 1214-1217 DiseaseOrPhenotypicFeature denotes DGS 0008564
T15 1218-1222 DiseaseOrPhenotypicFeature denotes VCFS 0018923

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 72-98 DiseaseOrPhenotypicFeature denotes Velocardiofacial syndromes D004062
T2 113-139 DiseaseOrPhenotypicFeature denotes Velocardiofacial syndromes D004062
T3 141-144 DiseaseOrPhenotypicFeature denotes DGS DISEASE
T4 145-149 DiseaseOrPhenotypicFeature denotes VCFS DISEASE
T5 204-258 DiseaseOrPhenotypicFeature denotes cardiovascular, craniofacial, and thymic malformations DISEASE
T6 608-611 DiseaseOrPhenotypicFeature denotes DGS DISEASE
T7 612-616 DiseaseOrPhenotypicFeature denotes VCFS DISEASE
T8 724-727 DiseaseOrPhenotypicFeature denotes DGS DISEASE
T9 728-732 DiseaseOrPhenotypicFeature denotes VCFS DISEASE
T10 1214-1217 DiseaseOrPhenotypicFeature denotes DGS DISEASE
T11 1218-1222 DiseaseOrPhenotypicFeature denotes VCFS DISEASE

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 72-98 DiseaseOrPhenotypicFeature denotes Velocardiofacial syndromes D004062
T2 113-139 DiseaseOrPhenotypicFeature denotes Velocardiofacial syndromes D004062
T3 141-144 DiseaseOrPhenotypicFeature denotes DGS DISEASE
T4 145-149 DiseaseOrPhenotypicFeature denotes VCFS DISEASE
T5 204-258 DiseaseOrPhenotypicFeature denotes cardiovascular, craniofacial, and thymic malformations DISEASE
T6 608-611 DiseaseOrPhenotypicFeature denotes DGS DISEASE
T7 612-616 DiseaseOrPhenotypicFeature denotes VCFS DISEASE
T8 724-727 DiseaseOrPhenotypicFeature denotes DGS DISEASE
T9 728-732 DiseaseOrPhenotypicFeature denotes VCFS DISEASE
T10 1214-1217 DiseaseOrPhenotypicFeature denotes DGS DISEASE
T11 1218-1222 DiseaseOrPhenotypicFeature denotes VCFS DISEASE

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label
T8 992-1014 GeneOrGeneProduct denotes transcription activity
T7 850-856 GeneOrGeneProduct denotes Tuple1
T6 845-849 GeneOrGeneProduct denotes HIRA
T5 680-686 GeneOrGeneProduct denotes Tuple1
T4 675-679 GeneOrGeneProduct denotes HIRA
T3 420-425 GeneOrGeneProduct denotes dense
T2 39-45 GeneOrGeneProduct denotes Tuple1
T1 34-38 GeneOrGeneProduct denotes HIRA
T11 1218-1222 DiseaseOrPhenotypicFeature denotes VCFS DISEASE
T10 1214-1217 DiseaseOrPhenotypicFeature denotes DGS DISEASE
T9 728-732 DiseaseOrPhenotypicFeature denotes VCFS DISEASE
T77879 724-727 DiseaseOrPhenotypicFeature denotes DGS DISEASE
T72666 612-616 DiseaseOrPhenotypicFeature denotes VCFS DISEASE
T30800 608-611 DiseaseOrPhenotypicFeature denotes DGS DISEASE
T26958 204-258 DiseaseOrPhenotypicFeature denotes cardiovascular, craniofacial, and thymic malformations DISEASE
T53917 145-149 DiseaseOrPhenotypicFeature denotes VCFS DISEASE
T52914 141-144 DiseaseOrPhenotypicFeature denotes DGS DISEASE
T95427 113-139 DiseaseOrPhenotypicFeature denotes Velocardiofacial syndromes D004062
T3825 72-98 DiseaseOrPhenotypicFeature denotes Velocardiofacial syndromes D004062

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
15177686-3#103#106#gene6899 608-611 gene6899 denotes DGS
15177686-3#107#111#diseaseC0220704 612-616 diseaseC0220704 denotes VCFS
103#106#gene6899107#111#diseaseC0220704 15177686-3#103#106#gene6899 15177686-3#107#111#diseaseC0220704 associated_with DGS,VCFS

DisGeNET

Id Subject Object Predicate Lexical cue
T0 145-149 gene:6899 denotes VCFS
T1 245-258 disease:C0000768 denotes malformations
R1 T0 T1 associated_with VCFS,malformations