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LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-113 Sentence denotes Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation.
T2 114-132 Sentence denotes BACKGROUND & AIMS:
T3 133-352 Sentence denotes Aceruloplasminemia is a rare autosomal recessive neurodegenerative disease associated with brain and liver iron accumulation which typically presents with movement disorders, retinal degeneration, and diabetes mellitus.
T4 353-495 Sentence denotes Ceruloplasmin is a multi-copper ferroxidase that is secreted into plasma and facilitates cellular iron export and iron binding to transferrin.
T5 496-504 Sentence denotes RESULTS:
T6 505-643 Sentence denotes A novel homozygous ceruloplasmin gene mutation, c.2554+1G>T, was identified as the cause of aceruloplasminemia in three affected siblings.
T7 644-704 Sentence denotes Two siblings presented with movement disorders and diabetes.
T8 705-863 Sentence denotes Complementary DNA sequencing showed that this mutation causes skipping of exon 14 and deletion of amino acids 809-852 while preserving the open reading frame.
T9 864-983 Sentence denotes Western blotting of liver extracts and sera of affected patients showed retention of the abnormal protein in the liver.
T10 984-1180 Sentence denotes Aceruloplasminemia was associated with severe brain and liver iron overload, where hepatic mRNA expression of the iron hormone hepcidin was increased, corresponding to the degree of iron overload.
T11 1181-1338 Sentence denotes Hepatic iron concentration normalized after 3 and 5months of iron chelation therapy with deferasirox, which was also associated with reduced insulin demands.
T12 1339-1456 Sentence denotes During short term treatment there was no clinical or imaging evidence for significant effects on brain iron overload.
T13 1457-1469 Sentence denotes CONCLUSIONS:
T14 1470-1614 Sentence denotes Aceruloplasminemia can show an incomplete clinical penetrance but is invariably associated with iron accumulation in the liver and in the brain.
T15 1615-1775 Sentence denotes Iron accumulation in aceruloplasminemia is a result of defective cellular iron export, where hepcidin regulation is appropriate for the degree of iron overload.
T16 1776-1881 Sentence denotes Iron chelation with deferasirox was effective in mobilizing hepatic iron but has no effect on brain iron.

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
7986 22-26 ChemicalEntity denotes iron MESH:D007501
7987 50-61 ChemicalEntity denotes deferasirox MESH:D000077588
7988 65-83 DiseaseOrPhenotypicFeature denotes aceruloplasminemia MESH:C536004
7989 133-151 DiseaseOrPhenotypicFeature denotes Aceruloplasminemia MESH:C536004
7990 162-207 DiseaseOrPhenotypicFeature denotes autosomal recessive neurodegenerative disease MESH:D020271
7991 240-244 ChemicalEntity denotes iron MESH:D007501
7992 288-306 DiseaseOrPhenotypicFeature denotes movement disorders MESH:D009069
7993 308-328 DiseaseOrPhenotypicFeature denotes retinal degeneration MESH:D012162
7994 334-351 DiseaseOrPhenotypicFeature denotes diabetes mellitus MESH:D003920
7995 353-366 GeneOrGeneProduct denotes Ceruloplasmin NCBIGene:1356
7996 385-396 ChemicalEntity denotes ferroxidase
7997 451-455 ChemicalEntity denotes iron MESH:D007501
7998 467-471 ChemicalEntity denotes iron MESH:D007501
7999 483-494 GeneOrGeneProduct denotes transferrin NCBIGene:7018
8000 524-537 GeneOrGeneProduct denotes ceruloplasmin NCBIGene:1356
8001 553-564 SequenceVariant denotes c.2554+1G>T c|SUB|G|2554+1|T
8002 597-615 DiseaseOrPhenotypicFeature denotes aceruloplasminemia MESH:C536004
8003 672-690 DiseaseOrPhenotypicFeature denotes movement disorders MESH:D009069
8004 695-703 DiseaseOrPhenotypicFeature denotes diabetes MESH:D003920
8005 791-822 SequenceVariant denotes deletion of amino acids 809-852 c|DEL|809_852|
8006 920-928 OrganismTaxon denotes patients NCBITaxon:9606
8007 984-1002 DiseaseOrPhenotypicFeature denotes Aceruloplasminemia MESH:C536004
8008 1046-1059 DiseaseOrPhenotypicFeature denotes iron overload MESH:D019190
8009 1098-1102 ChemicalEntity denotes iron MESH:D007501
8010 1111-1119 GeneOrGeneProduct denotes hepcidin NCBIGene:57817
8011 1166-1179 DiseaseOrPhenotypicFeature denotes iron overload MESH:D019190
8012 1189-1193 ChemicalEntity denotes iron MESH:D007501
8013 1242-1246 ChemicalEntity denotes iron MESH:D007501
8014 1270-1281 ChemicalEntity denotes deferasirox MESH:D000077588
8015 1322-1329 GeneOrGeneProduct denotes insulin NCBIGene:3630
8016 1442-1455 DiseaseOrPhenotypicFeature denotes iron overload MESH:D019190
8017 1470-1488 DiseaseOrPhenotypicFeature denotes Aceruloplasminemia MESH:C536004
8018 1566-1570 ChemicalEntity denotes iron MESH:D007501
8019 1615-1619 ChemicalEntity denotes Iron MESH:D007501
8020 1636-1654 DiseaseOrPhenotypicFeature denotes aceruloplasminemia MESH:C536004
8021 1689-1693 ChemicalEntity denotes iron MESH:D007501
8022 1708-1716 GeneOrGeneProduct denotes hepcidin NCBIGene:57817
8023 1761-1774 DiseaseOrPhenotypicFeature denotes iron overload MESH:D019190
8024 1776-1780 ChemicalEntity denotes Iron MESH:D007501
8025 1796-1807 ChemicalEntity denotes deferasirox MESH:D000077588
8026 1844-1848 ChemicalEntity denotes iron MESH:D007501
8027 1876-1880 ChemicalEntity denotes iron MESH:D007501

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 0-7 DiseaseOrPhenotypicFeature denotes Hepatic 0002251
T2 65-83 DiseaseOrPhenotypicFeature denotes aceruloplasminemia 0011426
T3 133-151 DiseaseOrPhenotypicFeature denotes Aceruloplasminemia 0011426
T4 157-161 DiseaseOrPhenotypicFeature denotes rare 0021136
T5 182-207 DiseaseOrPhenotypicFeature denotes neurodegenerative disease 0005559
T6 288-306 DiseaseOrPhenotypicFeature denotes movement disorders 0005395
T7 308-328 DiseaseOrPhenotypicFeature denotes retinal degeneration 0004580
T8 334-351 DiseaseOrPhenotypicFeature denotes diabetes mellitus 0005015
T9 597-615 DiseaseOrPhenotypicFeature denotes aceruloplasminemia 0011426
T10 672-690 DiseaseOrPhenotypicFeature denotes movement disorders 0005395
T11 984-1002 DiseaseOrPhenotypicFeature denotes Aceruloplasminemia 0011426
T12 1067-1074 DiseaseOrPhenotypicFeature denotes hepatic 0002251
T13 1181-1188 DiseaseOrPhenotypicFeature denotes Hepatic 0002251
T14 1470-1488 DiseaseOrPhenotypicFeature denotes Aceruloplasminemia 0011426
T15 1636-1654 DiseaseOrPhenotypicFeature denotes aceruloplasminemia 0011426
T16 1836-1843 DiseaseOrPhenotypicFeature denotes hepatic 0002251

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 553-564 SequenceVariant denotes c.2554+1G>T
T2 791-808 SequenceVariant denotes deletion of amino

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 16-21 GeneOrGeneProduct denotes brain
T2 22-26 GeneOrGeneProduct denotes iron
T3 93-103 GeneOrGeneProduct denotes novel gene
T4 104-112 GeneOrGeneProduct denotes mutation
T5 157-161 GeneOrGeneProduct denotes rare
T6 224-229 GeneOrGeneProduct denotes brain
T7 234-239 GeneOrGeneProduct denotes liver
T8 240-244 GeneOrGeneProduct denotes iron
T9 308-315 GeneOrGeneProduct denotes retinal
T10 334-342 GeneOrGeneProduct denotes diabetes
T11 353-366 GeneOrGeneProduct denotes Ceruloplasmin
T12 378-384 GeneOrGeneProduct denotes copper
T13 385-396 GeneOrGeneProduct denotes ferroxidase
T14 405-413 GeneOrGeneProduct denotes secreted
T15 451-455 GeneOrGeneProduct denotes iron
T16 456-462 GeneOrGeneProduct denotes export
T17 467-471 GeneOrGeneProduct denotes iron
T18 472-479 GeneOrGeneProduct denotes binding
T19 483-494 GeneOrGeneProduct denotes transferrin
T20 507-512 GeneOrGeneProduct denotes novel
T21 524-537 GeneOrGeneProduct denotes ceruloplasmin
T22 543-551 GeneOrGeneProduct denotes mutation
T23 695-703 GeneOrGeneProduct denotes diabetes
T24 751-759 GeneOrGeneProduct denotes mutation
T25 767-775 GeneOrGeneProduct denotes skipping
T26 803-814 GeneOrGeneProduct denotes amino acids
T27 844-862 GeneOrGeneProduct denotes open reading frame
T28 872-880 GeneOrGeneProduct denotes blotting
T29 884-889 GeneOrGeneProduct denotes liver
T30 903-907 GeneOrGeneProduct denotes sera
T31 962-969 GeneOrGeneProduct denotes protein
T32 977-982 GeneOrGeneProduct denotes liver
T33 1030-1035 GeneOrGeneProduct denotes brain
T34 1040-1045 GeneOrGeneProduct denotes liver
T35 1046-1050 GeneOrGeneProduct denotes iron
T36 1075-1079 GeneOrGeneProduct denotes mRNA
T37 1098-1102 GeneOrGeneProduct denotes iron
T38 1103-1110 GeneOrGeneProduct denotes hormone
T39 1111-1119 GeneOrGeneProduct denotes hepcidin
T40 1166-1170 GeneOrGeneProduct denotes iron
T41 1189-1193 GeneOrGeneProduct denotes iron
T42 1225-1230 GeneOrGeneProduct denotes 3 and
T43 1242-1246 GeneOrGeneProduct denotes iron
T44 1314-1321 GeneOrGeneProduct denotes reduced
T45 1322-1329 GeneOrGeneProduct denotes insulin
T46 1352-1356 GeneOrGeneProduct denotes term
T47 1436-1441 GeneOrGeneProduct denotes brain
T48 1442-1446 GeneOrGeneProduct denotes iron
T49 1566-1570 GeneOrGeneProduct denotes iron
T50 1591-1596 GeneOrGeneProduct denotes liver
T51 1608-1613 GeneOrGeneProduct denotes brain
T52 1615-1619 GeneOrGeneProduct denotes Iron
T53 1670-1679 GeneOrGeneProduct denotes defective
T54 1689-1693 GeneOrGeneProduct denotes iron
T55 1694-1700 GeneOrGeneProduct denotes export
T56 1708-1716 GeneOrGeneProduct denotes hepcidin
T57 1717-1727 GeneOrGeneProduct denotes regulation
T58 1761-1765 GeneOrGeneProduct denotes iron
T59 1776-1780 GeneOrGeneProduct denotes Iron
T60 1844-1848 GeneOrGeneProduct denotes iron
T61 1870-1875 GeneOrGeneProduct denotes brain
T62 1876-1880 GeneOrGeneProduct denotes iron

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 16-21 GeneOrGeneProduct denotes brain
T2 93-103 GeneOrGeneProduct denotes novel gene
T3 157-161 GeneOrGeneProduct denotes rare
T4 224-229 GeneOrGeneProduct denotes brain
T5 234-239 GeneOrGeneProduct denotes liver
T6 334-342 GeneOrGeneProduct denotes diabetes
T7 353-366 GeneOrGeneProduct denotes Ceruloplasmin
T8 378-384 GeneOrGeneProduct denotes copper
T9 385-396 GeneOrGeneProduct denotes ferroxidase
T10 472-479 GeneOrGeneProduct denotes binding
T11 483-494 GeneOrGeneProduct denotes transferrin
T12 507-512 GeneOrGeneProduct denotes novel
T13 524-537 GeneOrGeneProduct denotes ceruloplasmin
T14 695-703 GeneOrGeneProduct denotes diabetes
T15 803-814 GeneOrGeneProduct denotes amino acids
T16 844-862 GeneOrGeneProduct denotes open reading frame
T17 884-889 GeneOrGeneProduct denotes liver
T18 962-969 GeneOrGeneProduct denotes protein
T19 977-982 GeneOrGeneProduct denotes liver
T20 1030-1035 GeneOrGeneProduct denotes brain
T21 1040-1045 GeneOrGeneProduct denotes liver
T22 1075-1079 GeneOrGeneProduct denotes mRNA
T23 1103-1110 GeneOrGeneProduct denotes hormone
T24 1111-1119 GeneOrGeneProduct denotes hepcidin
T25 1314-1321 GeneOrGeneProduct denotes reduced
T26 1322-1329 GeneOrGeneProduct denotes insulin
T27 1352-1356 GeneOrGeneProduct denotes term
T28 1436-1441 GeneOrGeneProduct denotes brain
T29 1591-1596 GeneOrGeneProduct denotes liver
T30 1608-1613 GeneOrGeneProduct denotes brain
T31 1670-1679 GeneOrGeneProduct denotes defective
T32 1708-1716 GeneOrGeneProduct denotes hepcidin
T33 1870-1875 GeneOrGeneProduct denotes brain

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 65-83 DiseaseOrPhenotypicFeature denotes aceruloplasminemia C536004
T2 133-151 DiseaseOrPhenotypicFeature denotes Aceruloplasminemia C536004
T3 182-207 DiseaseOrPhenotypicFeature denotes neurodegenerative disease D019636
T4 288-306 DiseaseOrPhenotypicFeature denotes movement disorders D009069
T5 308-328 DiseaseOrPhenotypicFeature denotes retinal degeneration D012162
T6 334-351 DiseaseOrPhenotypicFeature denotes diabetes mellitus D003920
T7 597-615 DiseaseOrPhenotypicFeature denotes aceruloplasminemia C536004
T8 672-690 DiseaseOrPhenotypicFeature denotes movement disorders D009069
T9 695-703 DiseaseOrPhenotypicFeature denotes diabetes DISEASE
T10 984-1002 DiseaseOrPhenotypicFeature denotes Aceruloplasminemia C536004
T11 1046-1059 DiseaseOrPhenotypicFeature denotes iron overload D019190
T12 1166-1179 DiseaseOrPhenotypicFeature denotes iron overload D019190
T13 1442-1455 DiseaseOrPhenotypicFeature denotes iron overload D019190
T14 1470-1488 DiseaseOrPhenotypicFeature denotes Aceruloplasminemia C536004
T15 1636-1654 DiseaseOrPhenotypicFeature denotes aceruloplasminemia C536004
T16 1761-1774 DiseaseOrPhenotypicFeature denotes iron overload D019190

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 93-103 GeneOrGeneProduct denotes novel gene
T2 353-366 GeneOrGeneProduct denotes Ceruloplasmin
T3 378-384 GeneOrGeneProduct denotes copper
T4 385-396 GeneOrGeneProduct denotes ferroxidase
T5 483-494 GeneOrGeneProduct denotes transferrin
T6 524-537 GeneOrGeneProduct denotes ceruloplasmin
T7 1111-1119 GeneOrGeneProduct denotes hepcidin
T8 1708-1716 GeneOrGeneProduct denotes hepcidin

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 65-83 DiseaseOrPhenotypicFeature denotes aceruloplasminemia 0011426
T2 133-151 DiseaseOrPhenotypicFeature denotes Aceruloplasminemia 0011426
T3 182-207 DiseaseOrPhenotypicFeature denotes neurodegenerative disease 0005559
T4 288-306 DiseaseOrPhenotypicFeature denotes movement disorders 0005395
T5 308-328 DiseaseOrPhenotypicFeature denotes retinal degeneration 0004580
T6 334-351 DiseaseOrPhenotypicFeature denotes diabetes mellitus 0005015
T7 597-615 DiseaseOrPhenotypicFeature denotes aceruloplasminemia 0011426
T8 672-690 DiseaseOrPhenotypicFeature denotes movement disorders 0005395
T9 695-703 DiseaseOrPhenotypicFeature denotes diabetes 0005015
T10 984-1002 DiseaseOrPhenotypicFeature denotes Aceruloplasminemia 0011426
T11 1470-1488 DiseaseOrPhenotypicFeature denotes Aceruloplasminemia 0011426
T12 1489-1492 DiseaseOrPhenotypicFeature denotes can 0012833
T13 1636-1654 DiseaseOrPhenotypicFeature denotes aceruloplasminemia 0011426

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 65-83 DiseaseOrPhenotypicFeature denotes aceruloplasminemia C536004
T2 133-151 DiseaseOrPhenotypicFeature denotes Aceruloplasminemia C536004
T3 182-207 DiseaseOrPhenotypicFeature denotes neurodegenerative disease D019636
T4 288-306 DiseaseOrPhenotypicFeature denotes movement disorders D009069
T5 308-328 DiseaseOrPhenotypicFeature denotes retinal degeneration D012162
T6 334-351 DiseaseOrPhenotypicFeature denotes diabetes mellitus D003920
T7 597-615 DiseaseOrPhenotypicFeature denotes aceruloplasminemia C536004
T8 672-690 DiseaseOrPhenotypicFeature denotes movement disorders D009069
T9 695-703 DiseaseOrPhenotypicFeature denotes diabetes DISEASE
T10 984-1002 DiseaseOrPhenotypicFeature denotes Aceruloplasminemia C536004
T11 1046-1059 DiseaseOrPhenotypicFeature denotes iron overload D019190
T12 1166-1179 DiseaseOrPhenotypicFeature denotes iron overload D019190
T13 1442-1455 DiseaseOrPhenotypicFeature denotes iron overload D019190
T14 1470-1488 DiseaseOrPhenotypicFeature denotes Aceruloplasminemia C536004
T15 1636-1654 DiseaseOrPhenotypicFeature denotes aceruloplasminemia C536004
T16 1761-1774 DiseaseOrPhenotypicFeature denotes iron overload D019190

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 65-83 DiseaseOrPhenotypicFeature denotes aceruloplasminemia C536004
T2 133-151 DiseaseOrPhenotypicFeature denotes Aceruloplasminemia C536004
T3 182-207 DiseaseOrPhenotypicFeature denotes neurodegenerative disease D019636
T4 288-306 DiseaseOrPhenotypicFeature denotes movement disorders D009069
T5 308-328 DiseaseOrPhenotypicFeature denotes retinal degeneration D012162
T6 334-351 DiseaseOrPhenotypicFeature denotes diabetes mellitus D003920
T7 597-615 DiseaseOrPhenotypicFeature denotes aceruloplasminemia C536004
T8 672-690 DiseaseOrPhenotypicFeature denotes movement disorders D009069
T9 695-703 DiseaseOrPhenotypicFeature denotes diabetes DISEASE
T10 984-1002 DiseaseOrPhenotypicFeature denotes Aceruloplasminemia C536004
T11 1046-1059 DiseaseOrPhenotypicFeature denotes iron overload D019190
T12 1166-1179 DiseaseOrPhenotypicFeature denotes iron overload D019190
T13 1442-1455 DiseaseOrPhenotypicFeature denotes iron overload D019190
T14 1470-1488 DiseaseOrPhenotypicFeature denotes Aceruloplasminemia C536004
T15 1636-1654 DiseaseOrPhenotypicFeature denotes aceruloplasminemia C536004
T16 1761-1774 DiseaseOrPhenotypicFeature denotes iron overload D019190

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 920-928 OrganismTaxon denotes patients

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 22-26 ChemicalEntity denotes iron D007501|http://purl.obolibrary.org/obo/CHEBI_18248
T3 50-61 ChemicalEntity denotes deferasirox D000077588|http://purl.obolibrary.org/obo/CHEBI_49005
T5 240-244 ChemicalEntity denotes iron D007501|http://purl.obolibrary.org/obo/CHEBI_18248
T7 308-315 ChemicalEntity denotes retinal D012172|http://purl.obolibrary.org/obo/CHEBI_15035
T9 378-384 ChemicalEntity denotes copper D003300|http://purl.obolibrary.org/obo/CHEBI_30052|http://purl.obolibrary.org/obo/CHEBI_28694
T12 385-396 ChemicalEntity denotes ferroxidase ChemicalEntity
T13 451-455 ChemicalEntity denotes iron D007501|http://purl.obolibrary.org/obo/CHEBI_18248
T15 467-471 ChemicalEntity denotes iron D007501|http://purl.obolibrary.org/obo/CHEBI_18248
T17 884-898 ChemicalEntity denotes liver extracts D008110
T18 1046-1050 ChemicalEntity denotes iron D007501|http://purl.obolibrary.org/obo/CHEBI_18248
T20 1098-1102 ChemicalEntity denotes iron D007501|http://purl.obolibrary.org/obo/CHEBI_18248
T22 1166-1170 ChemicalEntity denotes iron D007501|http://purl.obolibrary.org/obo/CHEBI_18248
T24 1189-1193 ChemicalEntity denotes iron D007501|http://purl.obolibrary.org/obo/CHEBI_18248
T26 1242-1246 ChemicalEntity denotes iron D007501|http://purl.obolibrary.org/obo/CHEBI_18248
T28 1270-1281 ChemicalEntity denotes deferasirox D000077588|http://purl.obolibrary.org/obo/CHEBI_49005
T30 1442-1446 ChemicalEntity denotes iron D007501|http://purl.obolibrary.org/obo/CHEBI_18248
T32 1566-1570 ChemicalEntity denotes iron D007501|http://purl.obolibrary.org/obo/CHEBI_18248
T34 1615-1619 ChemicalEntity denotes Iron http://purl.obolibrary.org/obo/CHEBI_18248
T35 1689-1693 ChemicalEntity denotes iron D007501|http://purl.obolibrary.org/obo/CHEBI_18248
T37 1761-1765 ChemicalEntity denotes iron D007501|http://purl.obolibrary.org/obo/CHEBI_18248
T39 1776-1780 ChemicalEntity denotes Iron http://purl.obolibrary.org/obo/CHEBI_18248
T40 1796-1807 ChemicalEntity denotes deferasirox D000077588|http://purl.obolibrary.org/obo/CHEBI_49005
T42 1844-1848 ChemicalEntity denotes iron D007501|http://purl.obolibrary.org/obo/CHEBI_18248
T44 1876-1880 ChemicalEntity denotes iron D007501|http://purl.obolibrary.org/obo/CHEBI_18248

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T44 1876-1880 ChemicalEntity denotes iron http://purl.obolibrary.org/obo/CHEBI_18248|D007501
T42 1844-1848 ChemicalEntity denotes iron http://purl.obolibrary.org/obo/CHEBI_18248|D007501
T40 1796-1807 ChemicalEntity denotes deferasirox http://purl.obolibrary.org/obo/CHEBI_49005|D000077588
T39 1776-1780 ChemicalEntity denotes Iron http://purl.obolibrary.org/obo/CHEBI_18248
T37 1761-1765 ChemicalEntity denotes iron http://purl.obolibrary.org/obo/CHEBI_18248|D007501
T35 1689-1693 ChemicalEntity denotes iron http://purl.obolibrary.org/obo/CHEBI_18248|D007501
T34 1615-1619 ChemicalEntity denotes Iron http://purl.obolibrary.org/obo/CHEBI_18248
T32 1566-1570 ChemicalEntity denotes iron http://purl.obolibrary.org/obo/CHEBI_18248|D007501
T30 1442-1446 ChemicalEntity denotes iron http://purl.obolibrary.org/obo/CHEBI_18248|D007501
T28 1270-1281 ChemicalEntity denotes deferasirox http://purl.obolibrary.org/obo/CHEBI_49005|D000077588
T26 1242-1246 ChemicalEntity denotes iron http://purl.obolibrary.org/obo/CHEBI_18248|D007501
T24 1189-1193 ChemicalEntity denotes iron http://purl.obolibrary.org/obo/CHEBI_18248|D007501
T22 1166-1170 ChemicalEntity denotes iron http://purl.obolibrary.org/obo/CHEBI_18248|D007501
T20 1098-1102 ChemicalEntity denotes iron http://purl.obolibrary.org/obo/CHEBI_18248|D007501
T18 1046-1050 ChemicalEntity denotes iron http://purl.obolibrary.org/obo/CHEBI_18248|D007501
T17 884-898 ChemicalEntity denotes liver extracts D008110
T15 467-471 ChemicalEntity denotes iron http://purl.obolibrary.org/obo/CHEBI_18248|D007501
T13 451-455 ChemicalEntity denotes iron http://purl.obolibrary.org/obo/CHEBI_18248|D007501
T12 385-396 ChemicalEntity denotes ferroxidase ChemicalEntity
T9 378-384 ChemicalEntity denotes copper http://purl.obolibrary.org/obo/CHEBI_28694|http://purl.obolibrary.org/obo/CHEBI_30052|D003300
T7 308-315 ChemicalEntity denotes retinal http://purl.obolibrary.org/obo/CHEBI_15035|D012172
T5 240-244 ChemicalEntity denotes iron http://purl.obolibrary.org/obo/CHEBI_18248|D007501
T3 50-61 ChemicalEntity denotes deferasirox http://purl.obolibrary.org/obo/CHEBI_49005|D000077588
T1 22-26 ChemicalEntity denotes iron http://purl.obolibrary.org/obo/CHEBI_18248|D007501
T8 1708-1716 GeneOrGeneProduct denotes hepcidin
T71447 1111-1119 GeneOrGeneProduct denotes hepcidin
T6 524-537 GeneOrGeneProduct denotes ceruloplasmin
T17474 483-494 GeneOrGeneProduct denotes transferrin
T4 385-396 GeneOrGeneProduct denotes ferroxidase
T19512 378-384 GeneOrGeneProduct denotes copper
T2 353-366 GeneOrGeneProduct denotes Ceruloplasmin
T99273 93-103 GeneOrGeneProduct denotes novel gene
T16 1761-1774 DiseaseOrPhenotypicFeature denotes iron overload D019190
T1410 1636-1654 DiseaseOrPhenotypicFeature denotes aceruloplasminemia C536004
T14 1470-1488 DiseaseOrPhenotypicFeature denotes Aceruloplasminemia C536004
T331 1442-1455 DiseaseOrPhenotypicFeature denotes iron overload D019190
T46810 1166-1179 DiseaseOrPhenotypicFeature denotes iron overload D019190
T11 1046-1059 DiseaseOrPhenotypicFeature denotes iron overload D019190
T10 984-1002 DiseaseOrPhenotypicFeature denotes Aceruloplasminemia C536004
T25921 695-703 DiseaseOrPhenotypicFeature denotes diabetes DISEASE
T72146 672-690 DiseaseOrPhenotypicFeature denotes movement disorders D009069
T72510 597-615 DiseaseOrPhenotypicFeature denotes aceruloplasminemia C536004
T22306 334-351 DiseaseOrPhenotypicFeature denotes diabetes mellitus D003920
T7679 308-328 DiseaseOrPhenotypicFeature denotes retinal degeneration D012162
T40557 288-306 DiseaseOrPhenotypicFeature denotes movement disorders D009069
T18150 182-207 DiseaseOrPhenotypicFeature denotes neurodegenerative disease D019636
T41801 133-151 DiseaseOrPhenotypicFeature denotes Aceruloplasminemia C536004
T48388 65-83 DiseaseOrPhenotypicFeature denotes aceruloplasminemia C536004
T11259 920-928 OrganismTaxon denotes patients
T90738 791-808 SequenceVariant denotes deletion of amino
T65484 553-564 SequenceVariant denotes c.2554+1G>T

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-113 Sentence denotes Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation.
TextSentencer_T2 114-132 Sentence denotes BACKGROUND & AIMS:
TextSentencer_T3 133-352 Sentence denotes Aceruloplasminemia is a rare autosomal recessive neurodegenerative disease associated with brain and liver iron accumulation which typically presents with movement disorders, retinal degeneration, and diabetes mellitus.
TextSentencer_T4 353-495 Sentence denotes Ceruloplasmin is a multi-copper ferroxidase that is secreted into plasma and facilitates cellular iron export and iron binding to transferrin.
TextSentencer_T5 496-504 Sentence denotes RESULTS:
TextSentencer_T6 505-643 Sentence denotes A novel homozygous ceruloplasmin gene mutation, c.2554+1G>T, was identified as the cause of aceruloplasminemia in three affected siblings.
TextSentencer_T7 644-704 Sentence denotes Two siblings presented with movement disorders and diabetes.
TextSentencer_T8 705-863 Sentence denotes Complementary DNA sequencing showed that this mutation causes skipping of exon 14 and deletion of amino acids 809-852 while preserving the open reading frame.
TextSentencer_T9 864-983 Sentence denotes Western blotting of liver extracts and sera of affected patients showed retention of the abnormal protein in the liver.
TextSentencer_T10 984-1180 Sentence denotes Aceruloplasminemia was associated with severe brain and liver iron overload, where hepatic mRNA expression of the iron hormone hepcidin was increased, corresponding to the degree of iron overload.
TextSentencer_T11 1181-1338 Sentence denotes Hepatic iron concentration normalized after 3 and 5months of iron chelation therapy with deferasirox, which was also associated with reduced insulin demands.
TextSentencer_T12 1339-1456 Sentence denotes During short term treatment there was no clinical or imaging evidence for significant effects on brain iron overload.
TextSentencer_T13 1457-1469 Sentence denotes CONCLUSIONS:
TextSentencer_T14 1470-1614 Sentence denotes Aceruloplasminemia can show an incomplete clinical penetrance but is invariably associated with iron accumulation in the liver and in the brain.
TextSentencer_T15 1615-1775 Sentence denotes Iron accumulation in aceruloplasminemia is a result of defective cellular iron export, where hepcidin regulation is appropriate for the degree of iron overload.
TextSentencer_T16 1776-1881 Sentence denotes Iron chelation with deferasirox was effective in mobilizing hepatic iron but has no effect on brain iron.
T1 0-113 Sentence denotes Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation.
T2 114-132 Sentence denotes BACKGROUND & AIMS:
T3 133-352 Sentence denotes Aceruloplasminemia is a rare autosomal recessive neurodegenerative disease associated with brain and liver iron accumulation which typically presents with movement disorders, retinal degeneration, and diabetes mellitus.
T4 353-495 Sentence denotes Ceruloplasmin is a multi-copper ferroxidase that is secreted into plasma and facilitates cellular iron export and iron binding to transferrin.
T5 496-504 Sentence denotes RESULTS:
T6 505-643 Sentence denotes A novel homozygous ceruloplasmin gene mutation, c.2554+1G>T, was identified as the cause of aceruloplasminemia in three affected siblings.
T7 644-704 Sentence denotes Two siblings presented with movement disorders and diabetes.
T8 705-863 Sentence denotes Complementary DNA sequencing showed that this mutation causes skipping of exon 14 and deletion of amino acids 809-852 while preserving the open reading frame.
T9 864-983 Sentence denotes Western blotting of liver extracts and sera of affected patients showed retention of the abnormal protein in the liver.
T10 984-1180 Sentence denotes Aceruloplasminemia was associated with severe brain and liver iron overload, where hepatic mRNA expression of the iron hormone hepcidin was increased, corresponding to the degree of iron overload.
T11 1181-1338 Sentence denotes Hepatic iron concentration normalized after 3 and 5months of iron chelation therapy with deferasirox, which was also associated with reduced insulin demands.
T12 1339-1456 Sentence denotes During short term treatment there was no clinical or imaging evidence for significant effects on brain iron overload.
T13 1457-1469 Sentence denotes CONCLUSIONS:
T14 1470-1614 Sentence denotes Aceruloplasminemia can show an incomplete clinical penetrance but is invariably associated with iron accumulation in the liver and in the brain.
T15 1615-1775 Sentence denotes Iron accumulation in aceruloplasminemia is a result of defective cellular iron export, where hepcidin regulation is appropriate for the degree of iron overload.
T16 1776-1881 Sentence denotes Iron chelation with deferasirox was effective in mobilizing hepatic iron but has no effect on brain iron.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 524-537 gene:1356 denotes ceruloplasmin
T1 597-615 disease:C0878682 denotes aceruloplasminemia
R1 T0 T1 associated_with ceruloplasmin,aceruloplasminemia

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 162-181 HP_0000007 denotes autosomal recessive
T2 288-306 HP_0100022 denotes movement disorders
T3 308-328 HP_0000546 denotes retinal degeneration
T4 334-351 HP_0000819 denotes diabetes mellitus

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
20801540-11#93#101#gene57817 1708-1716 gene57817 denotes hepcidin
20801540-11#21#39#diseaseC0878682 1636-1654 diseaseC0878682 denotes aceruloplasminemia
20801540-11#146#159#diseaseC0282193 1761-1774 diseaseC0282193 denotes iron overload
20801540-3#19#32#gene1356 524-537 gene1356 denotes ceruloplasmin
20801540-3#92#110#diseaseC0878682 597-615 diseaseC0878682 denotes aceruloplasminemia
93#101#gene5781721#39#diseaseC0878682 20801540-11#93#101#gene57817 20801540-11#21#39#diseaseC0878682 associated_with hepcidin,aceruloplasminemia
93#101#gene57817146#159#diseaseC0282193 20801540-11#93#101#gene57817 20801540-11#146#159#diseaseC0282193 associated_with hepcidin,iron overload
19#32#gene135692#110#diseaseC0878682 20801540-3#19#32#gene1356 20801540-3#92#110#diseaseC0878682 associated_with ceruloplasmin,aceruloplasminemia

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 234-239 http://purl.obolibrary.org/obo/UBERON_0002107 denotes liver
PD-UBERON-AE-B_T2 884-889 http://purl.obolibrary.org/obo/UBERON_0002107 denotes liver
PD-UBERON-AE-B_T3 977-982 http://purl.obolibrary.org/obo/UBERON_0002107 denotes liver
PD-UBERON-AE-B_T4 1040-1045 http://purl.obolibrary.org/obo/UBERON_0002107 denotes liver
PD-UBERON-AE-B_T5 1591-1596 http://purl.obolibrary.org/obo/UBERON_0002107 denotes liver
PD-UBERON-AE-B_T6 16-21 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T7 224-229 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T8 1030-1035 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T9 1436-1441 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T10 1608-1613 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T11 1870-1875 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 16-21 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T2 224-229 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T3 1030-1035 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T4 1436-1441 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T5 1608-1613 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T6 1870-1875 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T7 234-239 http://purl.obolibrary.org/obo/UBERON_0002107 denotes liver
PD-UBERON-AE-B_T8 884-889 http://purl.obolibrary.org/obo/UBERON_0002107 denotes liver
PD-UBERON-AE-B_T9 977-982 http://purl.obolibrary.org/obo/UBERON_0002107 denotes liver
PD-UBERON-AE-B_T10 1040-1045 http://purl.obolibrary.org/obo/UBERON_0002107 denotes liver
PD-UBERON-AE-B_T11 1591-1596 http://purl.obolibrary.org/obo/UBERON_0002107 denotes liver

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 115-151 HP:0025498 denotes ACKGROUND & AIMS: Aceruloplasminemia
TI1 65-83 HP:0025498 denotes aceruloplasminemia
AB2 308-328 HP:0000546 denotes retinal degeneration
AB3 334-351 HP:0000819 denotes diabetes mellitus
AB4 597-615 HP:0025498 denotes aceruloplasminemia
AB5 984-1002 HP:0025498 denotes Aceruloplasminemia
AB6 1470-1488 HP:0025498 denotes Aceruloplasminemia
AB7 1636-1654 HP:0025498 denotes aceruloplasminemia

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 115-151 ORDO:48818 denotes ACKGROUND & AIMS: Aceruloplasminemia
TI1 65-83 ORDO:48818 denotes aceruloplasminemia
AB2 597-615 ORDO:48818 denotes aceruloplasminemia
AB3 984-1002 ORDO:48818 denotes Aceruloplasminemia
AB4 1470-1488 ORDO:48818 denotes Aceruloplasminemia
AB5 1636-1654 ORDO:48818 denotes aceruloplasminemia

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 553-564 DNAMutation:c|SUB|G|2554+1|T denotes c.2554+1G>T