PubMed:20801540
Annnotations
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 |
biored-valid
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 22-26 | ChemicalEntity | denotes | iron |
| T2 | 50-61 | ChemicalEntity | denotes | deferasirox |
| T3 | 65-83 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T4 | 133-151 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T5 | 162-207 | DiseaseOrPhenotypicFeature | denotes | autosomal recessive neurodegenerative disease |
| T6 | 240-244 | ChemicalEntity | denotes | iron |
| T7 | 288-306 | DiseaseOrPhenotypicFeature | denotes | movement disorders |
| T8 | 308-328 | DiseaseOrPhenotypicFeature | denotes | retinal degeneration |
| T9 | 334-351 | DiseaseOrPhenotypicFeature | denotes | diabetes mellitus |
| T10 | 353-366 | GeneOrGeneProduct | denotes | Ceruloplasmin |
| T11 | 385-396 | ChemicalEntity | denotes | ferroxidase |
| T12 | 451-455 | ChemicalEntity | denotes | iron |
| T13 | 467-471 | ChemicalEntity | denotes | iron |
| T14 | 483-494 | GeneOrGeneProduct | denotes | transferrin |
| T15 | 524-537 | GeneOrGeneProduct | denotes | ceruloplasmin |
| T16 | 553-564 | SequenceVariant | denotes | c.2554+1G>T |
| T17 | 597-615 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T18 | 672-690 | DiseaseOrPhenotypicFeature | denotes | movement disorders |
| T19 | 695-703 | DiseaseOrPhenotypicFeature | denotes | diabetes |
| T20 | 791-822 | SequenceVariant | denotes | deletion of amino acids 809-852 |
| T21 | 920-928 | OrganismTaxon | denotes | patients |
| T22 | 984-1002 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T23 | 1046-1059 | DiseaseOrPhenotypicFeature | denotes | iron overload |
| T24 | 1098-1102 | ChemicalEntity | denotes | iron |
| T25 | 1111-1119 | GeneOrGeneProduct | denotes | hepcidin |
| T26 | 1166-1179 | DiseaseOrPhenotypicFeature | denotes | iron overload |
| T27 | 1189-1193 | ChemicalEntity | denotes | iron |
| T28 | 1242-1246 | ChemicalEntity | denotes | iron |
| T29 | 1270-1281 | ChemicalEntity | denotes | deferasirox |
| T30 | 1322-1329 | GeneOrGeneProduct | denotes | insulin |
| T31 | 1442-1455 | DiseaseOrPhenotypicFeature | denotes | iron overload |
| T32 | 1470-1488 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T33 | 1566-1570 | ChemicalEntity | denotes | iron |
| T34 | 1615-1619 | ChemicalEntity | denotes | Iron |
| T35 | 1636-1654 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T36 | 1689-1693 | ChemicalEntity | denotes | iron |
| T37 | 1708-1716 | GeneOrGeneProduct | denotes | hepcidin |
| T38 | 1761-1774 | DiseaseOrPhenotypicFeature | denotes | iron overload |
| T39 | 1776-1780 | ChemicalEntity | denotes | Iron |
| T40 | 1796-1807 | ChemicalEntity | denotes | deferasirox |
| T41 | 1844-1848 | ChemicalEntity | denotes | iron |
| T42 | 1876-1880 | ChemicalEntity | denotes | iron |
biored-valid-deepseek-nr-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-7 | DiseaseOrPhenotypicFeature | denotes | Hepatic |
| T2 | 22-26 | ChemicalEntity | denotes | iron |
| T3 | 50-61 | ChemicalEntity | denotes | deferasirox |
| T4 | 65-83 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T5 | 99-103 | GeneOrGeneProduct | denotes | gene |
| T6 | 133-151 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T7 | 240-244 | ChemicalEntity | denotes | iron |
| T8 | 318-322 | GeneOrGeneProduct | denotes | gene |
| T9 | 353-366 | GeneOrGeneProduct | denotes | Ceruloplasmin |
| T10 | 451-455 | ChemicalEntity | denotes | iron |
| T11 | 467-471 | ChemicalEntity | denotes | iron |
| T12 | 597-615 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T13 | 719-722 | GeneOrGeneProduct | denotes | DNA |
| T14 | 1046-1050 | ChemicalEntity | denotes | iron |
| T15 | 1098-1102 | ChemicalEntity | denotes | iron |
| T16 | 1270-1281 | ChemicalEntity | denotes | deferasirox |
biored-valid-deepseek-nr-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-7 | DiseaseOrPhenotypicFeature | denotes | Hepatic |
| T2 | 22-26 | ChemicalEntity | denotes | iron |
| T3 | 50-61 | ChemicalEntity | denotes | deferasirox |
| T4 | 65-83 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T5 | 99-103 | GeneOrGeneProduct | denotes | gene |
| T6 | 133-151 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T7 | 224-229 | DiseaseOrPhenotypicFeature | denotes | brain |
| T8 | 234-239 | DiseaseOrPhenotypicFeature | denotes | liver |
| T9 | 240-244 | ChemicalEntity | denotes | iron |
| T10 | 288-306 | DiseaseOrPhenotypicFeature | denotes | movement disorders |
| T11 | 308-328 | DiseaseOrPhenotypicFeature | denotes | retinal degeneration |
| T12 | 334-351 | DiseaseOrPhenotypicFeature | denotes | diabetes mellitus |
| T13 | 353-366 | GeneOrGeneProduct | denotes | Ceruloplasmin |
| T14 | 451-455 | ChemicalEntity | denotes | iron |
| T15 | 483-494 | GeneOrGeneProduct | denotes | transferrin |
| T16 | 524-537 | GeneOrGeneProduct | denotes | ceruloplasmin |
| T17 | 538-542 | GeneOrGeneProduct | denotes | gene |
| T18 | 553-564 | SequenceVariant | denotes | c.2554+1G>T |
| T19 | 597-615 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T20 | 672-690 | DiseaseOrPhenotypicFeature | denotes | movement disorders |
| T21 | 695-703 | DiseaseOrPhenotypicFeature | denotes | diabetes |
| T22 | 884-889 | DiseaseOrPhenotypicFeature | denotes | liver |
| T23 | 984-1002 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T24 | 1030-1035 | DiseaseOrPhenotypicFeature | denotes | brain |
| T25 | 1040-1045 | DiseaseOrPhenotypicFeature | denotes | liver |
| T26 | 1046-1050 | ChemicalEntity | denotes | iron |
| T27 | 1098-1102 | ChemicalEntity | denotes | iron |
| T28 | 1111-1119 | GeneOrGeneProduct | denotes | hepcidin |
| T29 | 1189-1193 | ChemicalEntity | denotes | iron |
| T30 | 1242-1246 | ChemicalEntity | denotes | iron |
| T31 | 1270-1281 | ChemicalEntity | denotes | deferasirox |
| T32 | 1322-1329 | GeneOrGeneProduct | denotes | insulin |
| T33 | 1436-1441 | DiseaseOrPhenotypicFeature | denotes | brain |
| T34 | 1442-1446 | ChemicalEntity | denotes | iron |
biored-valid-deepseek-r-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 22-26 | ChemicalEntity | denotes | iron |
| T2 | 50-61 | ChemicalEntity | denotes | deferasirox |
| T3 | 65-83 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T4 | 133-151 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T5 | 182-207 | DiseaseOrPhenotypicFeature | denotes | neurodegenerative disease |
| T6 | 288-306 | DiseaseOrPhenotypicFeature | denotes | movement disorders |
| T7 | 308-328 | DiseaseOrPhenotypicFeature | denotes | retinal degeneration |
| T8 | 334-351 | DiseaseOrPhenotypicFeature | denotes | diabetes mellitus |
| T9 | 353-366 | GeneOrGeneProduct | denotes | Ceruloplasmin |
| T10 | 378-384 | ChemicalEntity | denotes | copper |
| T11 | 483-494 | GeneOrGeneProduct | denotes | transferrin |
| T12 | 553-564 | SequenceVariant | denotes | c.2554+1G>T |
| T13 | 1111-1119 | GeneOrGeneProduct | denotes | hepcidin |
biored-valid-deepseek-r-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 50-61 | ChemicalEntity | denotes | deferasirox |
| T2 | 65-83 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T3 | 133-151 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T4 | 240-257 | DiseaseOrPhenotypicFeature | denotes | iron accumulation |
| T5 | 288-306 | DiseaseOrPhenotypicFeature | denotes | movement disorders |
| T6 | 308-328 | DiseaseOrPhenotypicFeature | denotes | retinal degeneration |
| T7 | 334-351 | DiseaseOrPhenotypicFeature | denotes | diabetes mellitus |
| T8 | 353-366 | GeneOrGeneProduct | denotes | Ceruloplasmin |
| T9 | 483-494 | GeneOrGeneProduct | denotes | transferrin |
| T10 | 524-537 | GeneOrGeneProduct | denotes | ceruloplasmin |
| T11 | 553-564 | SequenceVariant | denotes | c.2554+1G>T |
| T12 | 597-615 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T13 | 1046-1059 | DiseaseOrPhenotypicFeature | denotes | iron overload |
| T14 | 1111-1119 | GeneOrGeneProduct | denotes | hepcidin |
| T15 | 1436-1455 | DiseaseOrPhenotypicFeature | denotes | brain iron overload |
biored-valid-gemini-nr-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 22-26 | ChemicalEntity | denotes | iron |
| T2 | 50-61 | ChemicalEntity | denotes | deferasirox |
| T3 | 65-83 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T4 | 93-112 | SequenceVariant | denotes | novel gene mutation |
| T5 | 133-151 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T6 | 162-207 | DiseaseOrPhenotypicFeature | denotes | autosomal recessive neurodegenerative disease |
| T7 | 224-229 | OrganismTaxon | denotes | brain |
| T8 | 234-239 | OrganismTaxon | denotes | liver |
| T9 | 240-257 | DiseaseOrPhenotypicFeature | denotes | iron accumulation |
| T10 | 288-306 | DiseaseOrPhenotypicFeature | denotes | movement disorders |
| T11 | 308-328 | DiseaseOrPhenotypicFeature | denotes | retinal degeneration |
| T12 | 334-351 | DiseaseOrPhenotypicFeature | denotes | diabetes mellitus |
| T13 | 353-366 | GeneOrGeneProduct | denotes | Ceruloplasmin |
| T14 | 378-384 | ChemicalEntity | denotes | copper |
| T15 | 451-455 | ChemicalEntity | denotes | iron |
| T16 | 483-494 | GeneOrGeneProduct | denotes | transferrin |
| T17 | 524-551 | SequenceVariant | denotes | ceruloplasmin gene mutation |
| T18 | 553-564 | SequenceVariant | denotes | c.2554+1G>T |
| T19 | 597-615 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T20 | 672-690 | DiseaseOrPhenotypicFeature | denotes | movement disorders |
| T21 | 695-703 | DiseaseOrPhenotypicFeature | denotes | diabetes |
| T22 | 884-889 | OrganismTaxon | denotes | liver |
| T23 | 984-1002 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T24 | 1030-1035 | OrganismTaxon | denotes | brain |
| T25 | 1046-1059 | DiseaseOrPhenotypicFeature | denotes | iron overload |
| T26 | 1111-1119 | GeneOrGeneProduct | denotes | hepcidin |
| T27 | 1166-1179 | DiseaseOrPhenotypicFeature | denotes | iron overload |
| T28 | 1181-1188 | OrganismTaxon | denotes | Hepatic |
| T29 | 1270-1281 | ChemicalEntity | denotes | deferasirox |
| T30 | 1322-1329 | ChemicalEntity | denotes | insulin |
| T31 | 1436-1441 | OrganismTaxon | denotes | brain |
| T32 | 1442-1446 | ChemicalEntity | denotes | iron |
| T33 | 1470-1488 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T34 | 1566-1583 | DiseaseOrPhenotypicFeature | denotes | iron accumulation |
| T35 | 1591-1596 | OrganismTaxon | denotes | liver |
| T36 | 1608-1613 | OrganismTaxon | denotes | brain |
| T37 | 1615-1632 | DiseaseOrPhenotypicFeature | denotes | Iron accumulation |
| T38 | 1636-1654 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T39 | 1689-1693 | ChemicalEntity | denotes | iron |
| T40 | 1708-1716 | GeneOrGeneProduct | denotes | hepcidin |
| T41 | 1776-1790 | DiseaseOrPhenotypicFeature | denotes | Iron chelation |
| T42 | 1796-1807 | ChemicalEntity | denotes | deferasirox |
| T43 | 1836-1843 | OrganismTaxon | denotes | hepatic |
biored-valid-gemini-r-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 22-26 | ChemicalEntity | denotes | iron |
| T2 | 50-61 | ChemicalEntity | denotes | deferasirox |
| T3 | 65-83 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T4 | 99-112 | DiseaseOrPhenotypicFeature | denotes | gene mutation |
| T5 | 133-151 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T6 | 162-207 | DiseaseOrPhenotypicFeature | denotes | autosomal recessive neurodegenerative disease |
| T7 | 224-257 | DiseaseOrPhenotypicFeature | denotes | brain and liver iron accumulation |
| T8 | 288-306 | DiseaseOrPhenotypicFeature | denotes | movement disorders |
| T9 | 308-328 | DiseaseOrPhenotypicFeature | denotes | retinal degeneration |
| T10 | 334-351 | DiseaseOrPhenotypicFeature | denotes | diabetes mellitus |
| T11 | 353-366 | GeneOrGeneProduct | denotes | Ceruloplasmin |
| T12 | 372-396 | GeneOrGeneProduct | denotes | multi-copper ferroxidase |
| T13 | 451-455 | ChemicalEntity | denotes | iron |
| T14 | 483-494 | GeneOrGeneProduct | denotes | transferrin |
| T15 | 524-537 | GeneOrGeneProduct | denotes | ceruloplasmin |
| T16 | 538-551 | DiseaseOrPhenotypicFeature | denotes | gene mutation |
| T17 | 553-564 | SequenceVariant | denotes | c.2554+1G>T |
| T18 | 597-615 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T19 | 672-690 | DiseaseOrPhenotypicFeature | denotes | movement disorders |
| T20 | 695-703 | DiseaseOrPhenotypicFeature | denotes | diabetes |
| T21 | 751-759 | DiseaseOrPhenotypicFeature | denotes | mutation |
| T22 | 767-786 | SequenceVariant | denotes | skipping of exon 14 |
| T23 | 791-822 | SequenceVariant | denotes | deletion of amino acids 809-852 |
| T24 | 953-969 | GeneOrGeneProduct | denotes | abnormal protein |
| T25 | 984-1002 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T26 | 1030-1059 | DiseaseOrPhenotypicFeature | denotes | brain and liver iron overload |
| T27 | 1075-1079 | GeneOrGeneProduct | denotes | mRNA |
| T28 | 1098-1110 | GeneOrGeneProduct | denotes | iron hormone |
| T29 | 1111-1119 | GeneOrGeneProduct | denotes | hepcidin |
| T30 | 1166-1179 | DiseaseOrPhenotypicFeature | denotes | iron overload |
| T31 | 1270-1281 | ChemicalEntity | denotes | deferasirox |
| T32 | 1322-1329 | GeneOrGeneProduct | denotes | insulin |
| T33 | 1436-1455 | DiseaseOrPhenotypicFeature | denotes | brain iron overload |
| T34 | 1470-1488 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T35 | 1501-1531 | DiseaseOrPhenotypicFeature | denotes | incomplete clinical penetrance |
| T36 | 1566-1613 | DiseaseOrPhenotypicFeature | denotes | iron accumulation in the liver and in the brain |
| T37 | 1615-1632 | DiseaseOrPhenotypicFeature | denotes | Iron accumulation |
| T38 | 1636-1654 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T39 | 1670-1700 | DiseaseOrPhenotypicFeature | denotes | defective cellular iron export |
| T40 | 1708-1716 | GeneOrGeneProduct | denotes | hepcidin |
| T41 | 1761-1774 | DiseaseOrPhenotypicFeature | denotes | iron overload |
| T42 | 1796-1807 | ChemicalEntity | denotes | deferasirox |
biored-valid-gemini-r-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 22-26 | ChemicalEntity | denotes | iron |
| T2 | 50-61 | ChemicalEntity | denotes | deferasirox |
| T3 | 65-83 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T4 | 133-151 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T5 | 162-207 | DiseaseOrPhenotypicFeature | denotes | autosomal recessive neurodegenerative disease |
| T6 | 240-257 | DiseaseOrPhenotypicFeature | denotes | iron accumulation |
| T7 | 288-306 | DiseaseOrPhenotypicFeature | denotes | movement disorders |
| T8 | 308-328 | DiseaseOrPhenotypicFeature | denotes | retinal degeneration |
| T9 | 334-351 | DiseaseOrPhenotypicFeature | denotes | diabetes mellitus |
| T10 | 353-366 | GeneOrGeneProduct | denotes | Ceruloplasmin |
| T11 | 451-455 | ChemicalEntity | denotes | iron |
| T12 | 483-494 | GeneOrGeneProduct | denotes | transferrin |
| T13 | 524-542 | GeneOrGeneProduct | denotes | ceruloplasmin gene |
| T14 | 553-564 | SequenceVariant | denotes | c.2554+1G>T |
| T15 | 597-615 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T16 | 672-690 | DiseaseOrPhenotypicFeature | denotes | movement disorders |
| T17 | 695-703 | DiseaseOrPhenotypicFeature | denotes | diabetes |
| T18 | 767-786 | SequenceVariant | denotes | skipping of exon 14 |
| T19 | 791-822 | SequenceVariant | denotes | deletion of amino acids 809-852 |
| T20 | 984-1002 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T21 | 1046-1059 | DiseaseOrPhenotypicFeature | denotes | iron overload |
| T22 | 1075-1079 | GeneOrGeneProduct | denotes | mRNA |
| T23 | 1098-1102 | ChemicalEntity | denotes | iron |
| T24 | 1111-1119 | GeneOrGeneProduct | denotes | hepcidin |
| T25 | 1166-1170 | ChemicalEntity | denotes | iron |
| T26 | 1270-1281 | ChemicalEntity | denotes | deferasirox |
| T27 | 1322-1329 | ChemicalEntity | denotes | insulin |
| T28 | 1442-1455 | DiseaseOrPhenotypicFeature | denotes | iron overload |
| T29 | 1470-1488 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T30 | 1566-1583 | DiseaseOrPhenotypicFeature | denotes | iron accumulation |
| T31 | 1615-1632 | DiseaseOrPhenotypicFeature | denotes | Iron accumulation |
| T32 | 1636-1654 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T33 | 1689-1693 | ChemicalEntity | denotes | iron |
| T34 | 1708-1716 | GeneOrGeneProduct | denotes | hepcidin |
| T35 | 1761-1774 | DiseaseOrPhenotypicFeature | denotes | iron overload |
| T36 | 1796-1807 | ChemicalEntity | denotes | deferasirox |
biored-valid-gpt-nr-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 50-61 | ChemicalEntity | denotes | deferasirox |
| T2 | 65-83 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T3 | 133-151 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T4 | 182-207 | DiseaseOrPhenotypicFeature | denotes | neurodegenerative disease |
| T5 | 288-306 | DiseaseOrPhenotypicFeature | denotes | movement disorders |
| T6 | 308-328 | DiseaseOrPhenotypicFeature | denotes | retinal degeneration |
| T7 | 334-351 | DiseaseOrPhenotypicFeature | denotes | diabetes mellitus |
| T8 | 353-366 | GeneOrGeneProduct | denotes | Ceruloplasmin |
| T9 | 483-494 | GeneOrGeneProduct | denotes | transferrin |
| T10 | 524-537 | GeneOrGeneProduct | denotes | ceruloplasmin |
| T11 | 553-564 | SequenceVariant | denotes | c.2554+1G>T |
| T12 | 597-615 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T13 | 672-690 | DiseaseOrPhenotypicFeature | denotes | movement disorders |
| T14 | 695-703 | DiseaseOrPhenotypicFeature | denotes | diabetes |
| T15 | 719-722 | ChemicalEntity | denotes | DNA |
| T16 | 984-1002 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T17 | 1046-1059 | DiseaseOrPhenotypicFeature | denotes | iron overload |
| T18 | 1075-1079 | ChemicalEntity | denotes | mRNA |
| T19 | 1111-1119 | GeneOrGeneProduct | denotes | hepcidin |
| T20 | 1166-1179 | DiseaseOrPhenotypicFeature | denotes | iron overload |
| T21 | 1270-1281 | ChemicalEntity | denotes | deferasirox |
| T22 | 1322-1329 | GeneOrGeneProduct | denotes | insulin |
| T23 | 1442-1455 | DiseaseOrPhenotypicFeature | denotes | iron overload |
| T24 | 1470-1488 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T25 | 1566-1583 | DiseaseOrPhenotypicFeature | denotes | iron accumulation |
| T26 | 1615-1632 | DiseaseOrPhenotypicFeature | denotes | Iron accumulation |
| T27 | 1636-1654 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T28 | 1708-1716 | GeneOrGeneProduct | denotes | hepcidin |
| T29 | 1761-1774 | DiseaseOrPhenotypicFeature | denotes | iron overload |
| T30 | 1796-1807 | ChemicalEntity | denotes | deferasirox |
biored-valid-gpt-nr-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 22-26 | ChemicalEntity | denotes | iron |
| T2 | 50-61 | ChemicalEntity | denotes | deferasirox |
| T3 | 65-83 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T4 | 133-151 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T5 | 288-306 | DiseaseOrPhenotypicFeature | denotes | movement disorders |
| T6 | 308-328 | DiseaseOrPhenotypicFeature | denotes | retinal degeneration |
| T7 | 334-351 | DiseaseOrPhenotypicFeature | denotes | diabetes mellitus |
| T8 | 353-366 | GeneOrGeneProduct | denotes | Ceruloplasmin |
| T9 | 451-455 | ChemicalEntity | denotes | iron |
| T10 | 483-494 | GeneOrGeneProduct | denotes | transferrin |
| T11 | 524-537 | GeneOrGeneProduct | denotes | ceruloplasmin |
| T12 | 553-564 | SequenceVariant | denotes | c.2554+1G>T |
| T13 | 597-615 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T14 | 672-690 | DiseaseOrPhenotypicFeature | denotes | movement disorders |
| T15 | 695-703 | DiseaseOrPhenotypicFeature | denotes | diabetes |
| T16 | 767-786 | SequenceVariant | denotes | skipping of exon 14 |
| T17 | 791-822 | SequenceVariant | denotes | deletion of amino acids 809-852 |
| T18 | 984-1002 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T19 | 1046-1050 | ChemicalEntity | denotes | iron |
| T20 | 1098-1102 | ChemicalEntity | denotes | iron |
| T21 | 1111-1119 | GeneOrGeneProduct | denotes | hepcidin |
| T22 | 1166-1170 | ChemicalEntity | denotes | iron |
| T23 | 1242-1246 | ChemicalEntity | denotes | iron |
| T24 | 1270-1281 | ChemicalEntity | denotes | deferasirox |
| T25 | 1322-1329 | GeneOrGeneProduct | denotes | insulin |
| T26 | 1442-1446 | ChemicalEntity | denotes | iron |
| T27 | 1470-1488 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T28 | 1566-1570 | ChemicalEntity | denotes | iron |
| T29 | 1615-1619 | ChemicalEntity | denotes | Iron |
| T30 | 1636-1654 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T31 | 1689-1693 | ChemicalEntity | denotes | iron |
| T32 | 1708-1716 | GeneOrGeneProduct | denotes | hepcidin |
| T33 | 1761-1765 | ChemicalEntity | denotes | iron |
| T34 | 1776-1780 | ChemicalEntity | denotes | Iron |
| T35 | 1796-1807 | ChemicalEntity | denotes | deferasirox |
| T36 | 1844-1848 | ChemicalEntity | denotes | iron |
biored-valid-gpt-r-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 22-26 | ChemicalEntity | denotes | iron |
| T2 | 50-61 | ChemicalEntity | denotes | deferasirox |
| T3 | 65-83 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T4 | 133-151 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T5 | 182-207 | DiseaseOrPhenotypicFeature | denotes | neurodegenerative disease |
| T6 | 240-244 | ChemicalEntity | denotes | iron |
| T7 | 288-306 | DiseaseOrPhenotypicFeature | denotes | movement disorders |
| T8 | 308-328 | DiseaseOrPhenotypicFeature | denotes | retinal degeneration |
| T9 | 334-351 | DiseaseOrPhenotypicFeature | denotes | diabetes mellitus |
| T10 | 353-366 | GeneOrGeneProduct | denotes | Ceruloplasmin |
| T11 | 378-384 | ChemicalEntity | denotes | copper |
| T12 | 451-455 | ChemicalEntity | denotes | iron |
| T13 | 483-494 | GeneOrGeneProduct | denotes | transferrin |
| T14 | 524-542 | GeneOrGeneProduct | denotes | ceruloplasmin gene |
| T15 | 553-564 | SequenceVariant | denotes | c.2554+1G>T |
| T16 | 597-615 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T17 | 672-690 | DiseaseOrPhenotypicFeature | denotes | movement disorders |
| T18 | 695-703 | DiseaseOrPhenotypicFeature | denotes | diabetes |
| T19 | 767-786 | SequenceVariant | denotes | skipping of exon 14 |
| T20 | 791-822 | SequenceVariant | denotes | deletion of amino acids 809-852 |
| T21 | 984-1002 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T22 | 1046-1050 | ChemicalEntity | denotes | iron |
| T23 | 1098-1102 | ChemicalEntity | denotes | iron |
| T24 | 1111-1119 | GeneOrGeneProduct | denotes | hepcidin |
| T25 | 1166-1170 | ChemicalEntity | denotes | iron |
| T26 | 1242-1246 | ChemicalEntity | denotes | iron |
| T27 | 1270-1281 | ChemicalEntity | denotes | deferasirox |
| T28 | 1322-1329 | ChemicalEntity | denotes | insulin |
| T29 | 1442-1446 | ChemicalEntity | denotes | iron |
| T30 | 1470-1488 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T31 | 1566-1583 | DiseaseOrPhenotypicFeature | denotes | iron accumulation |
| T32 | 1615-1632 | DiseaseOrPhenotypicFeature | denotes | Iron accumulation |
| T33 | 1636-1654 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T34 | 1689-1693 | ChemicalEntity | denotes | iron |
| T35 | 1708-1716 | GeneOrGeneProduct | denotes | hepcidin |
| T36 | 1761-1765 | ChemicalEntity | denotes | iron |
| T37 | 1776-1780 | ChemicalEntity | denotes | Iron |
| T38 | 1796-1807 | ChemicalEntity | denotes | deferasirox |
| T39 | 1844-1848 | ChemicalEntity | denotes | iron |
biored-valid-gpt-r-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 22-26 | ChemicalEntity | denotes | iron |
| T2 | 50-61 | ChemicalEntity | denotes | deferasirox |
| T3 | 65-83 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T4 | 133-151 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T5 | 182-207 | DiseaseOrPhenotypicFeature | denotes | neurodegenerative disease |
| T6 | 240-244 | ChemicalEntity | denotes | iron |
| T7 | 288-306 | DiseaseOrPhenotypicFeature | denotes | movement disorders |
| T8 | 308-328 | DiseaseOrPhenotypicFeature | denotes | retinal degeneration |
| T9 | 334-351 | DiseaseOrPhenotypicFeature | denotes | diabetes mellitus |
| T10 | 353-366 | GeneOrGeneProduct | denotes | Ceruloplasmin |
| T11 | 451-455 | ChemicalEntity | denotes | iron |
| T12 | 483-494 | GeneOrGeneProduct | denotes | transferrin |
| T13 | 524-537 | GeneOrGeneProduct | denotes | ceruloplasmin |
| T14 | 553-564 | SequenceVariant | denotes | c.2554+1G>T |
| T15 | 597-615 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T16 | 672-690 | DiseaseOrPhenotypicFeature | denotes | movement disorders |
| T17 | 695-703 | DiseaseOrPhenotypicFeature | denotes | diabetes |
| T18 | 719-722 | ChemicalEntity | denotes | DNA |
| T19 | 767-786 | SequenceVariant | denotes | skipping of exon 14 |
| T20 | 791-822 | SequenceVariant | denotes | deletion of amino acids 809-852 |
| T21 | 984-1002 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T22 | 1046-1050 | ChemicalEntity | denotes | iron |
| T23 | 1111-1119 | GeneOrGeneProduct | denotes | hepcidin |
| T24 | 1166-1170 | ChemicalEntity | denotes | iron |
| T25 | 1242-1246 | ChemicalEntity | denotes | iron |
| T26 | 1270-1281 | ChemicalEntity | denotes | deferasirox |
| T27 | 1322-1329 | GeneOrGeneProduct | denotes | insulin |
| T28 | 1442-1446 | ChemicalEntity | denotes | iron |
| T29 | 1470-1488 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T30 | 1566-1570 | ChemicalEntity | denotes | iron |
| T31 | 1615-1619 | ChemicalEntity | denotes | Iron |
| T32 | 1636-1654 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T33 | 1689-1693 | ChemicalEntity | denotes | iron |
| T34 | 1708-1716 | GeneOrGeneProduct | denotes | hepcidin |
| T35 | 1761-1765 | ChemicalEntity | denotes | iron |
| T36 | 1776-1780 | ChemicalEntity | denotes | Iron |
| T37 | 1796-1807 | ChemicalEntity | denotes | deferasirox |
| T38 | 1844-1848 | ChemicalEntity | denotes | iron |
biored-valid-gemini-nr-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 22-26 | ChemicalEntity | denotes | iron |
| T2 | 50-61 | ChemicalEntity | denotes | deferasirox |
| T3 | 65-83 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T4 | 99-112 | SequenceVariant | denotes | gene mutation |
| T5 | 133-151 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T6 | 162-181 | DiseaseOrPhenotypicFeature | denotes | autosomal recessive |
| T7 | 182-207 | DiseaseOrPhenotypicFeature | denotes | neurodegenerative disease |
| T8 | 224-229 | OrganismTaxon | denotes | brain |
| T9 | 234-239 | OrganismTaxon | denotes | liver |
| T10 | 240-257 | DiseaseOrPhenotypicFeature | denotes | iron accumulation |
| T11 | 288-306 | DiseaseOrPhenotypicFeature | denotes | movement disorders |
| T12 | 308-328 | DiseaseOrPhenotypicFeature | denotes | retinal degeneration |
| T13 | 334-351 | DiseaseOrPhenotypicFeature | denotes | diabetes mellitus |
| T14 | 353-366 | GeneOrGeneProduct | denotes | Ceruloplasmin |
| T15 | 372-396 | GeneOrGeneProduct | denotes | multi-copper ferroxidase |
| T16 | 451-455 | ChemicalEntity | denotes | iron |
| T17 | 483-494 | GeneOrGeneProduct | denotes | transferrin |
| T18 | 524-551 | SequenceVariant | denotes | ceruloplasmin gene mutation |
| T19 | 553-564 | SequenceVariant | denotes | c.2554+1G>T |
| T20 | 597-615 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T21 | 672-690 | DiseaseOrPhenotypicFeature | denotes | movement disorders |
| T22 | 695-703 | DiseaseOrPhenotypicFeature | denotes | diabetes |
| T23 | 779-786 | GeneOrGeneProduct | denotes | exon 14 |
| T24 | 803-814 | ChemicalEntity | denotes | amino acids |
| T25 | 884-889 | OrganismTaxon | denotes | liver |
| T26 | 962-969 | GeneOrGeneProduct | denotes | protein |
| T27 | 977-982 | OrganismTaxon | denotes | liver |
| T28 | 984-1002 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T29 | 1030-1035 | OrganismTaxon | denotes | brain |
| T30 | 1046-1059 | DiseaseOrPhenotypicFeature | denotes | iron overload |
| T31 | 1111-1119 | GeneOrGeneProduct | denotes | hepcidin |
| T32 | 1242-1256 | DiseaseOrPhenotypicFeature | denotes | iron chelation |
| T33 | 1270-1281 | ChemicalEntity | denotes | deferasirox |
| T34 | 1322-1329 | GeneOrGeneProduct | denotes | insulin |
| T35 | 1436-1455 | DiseaseOrPhenotypicFeature | denotes | brain iron overload |
| T36 | 1470-1488 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T37 | 1566-1583 | DiseaseOrPhenotypicFeature | denotes | iron accumulation |
| T38 | 1591-1596 | OrganismTaxon | denotes | liver |
| T39 | 1608-1613 | OrganismTaxon | denotes | brain |
| T40 | 1615-1632 | DiseaseOrPhenotypicFeature | denotes | Iron accumulation |
| T41 | 1636-1654 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T42 | 1689-1693 | ChemicalEntity | denotes | iron |
| T43 | 1708-1716 | GeneOrGeneProduct | denotes | hepcidin |
| T44 | 1776-1790 | DiseaseOrPhenotypicFeature | denotes | Iron chelation |
| T45 | 1796-1807 | ChemicalEntity | denotes | deferasirox |
biored-valid-gpt-r-m
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 22-26 | ChemicalEntity | denotes | iron |
| T2 | 50-61 | ChemicalEntity | denotes | deferasirox |
| T3 | 65-83 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T4 | 133-151 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T5 | 240-244 | ChemicalEntity | denotes | iron |
| T6 | 288-306 | DiseaseOrPhenotypicFeature | denotes | movement disorders |
| T7 | 308-328 | DiseaseOrPhenotypicFeature | denotes | retinal degeneration |
| T8 | 334-351 | DiseaseOrPhenotypicFeature | denotes | diabetes mellitus |
| T9 | 353-366 | GeneOrGeneProduct | denotes | Ceruloplasmin |
| T10 | 451-455 | ChemicalEntity | denotes | iron |
| T11 | 483-494 | GeneOrGeneProduct | denotes | transferrin |
| T12 | 524-537 | GeneOrGeneProduct | denotes | ceruloplasmin |
| T13 | 553-564 | SequenceVariant | denotes | c.2554+1G>T |
| T14 | 597-615 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T15 | 672-690 | DiseaseOrPhenotypicFeature | denotes | movement disorders |
| T16 | 695-703 | DiseaseOrPhenotypicFeature | denotes | diabetes |
| T17 | 767-786 | SequenceVariant | denotes | skipping of exon 14 |
| T18 | 791-822 | SequenceVariant | denotes | deletion of amino acids 809-852 |
| T19 | 920-928 | OrganismTaxon | denotes | patients |
| T20 | 984-1002 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T21 | 1046-1059 | DiseaseOrPhenotypicFeature | denotes | iron overload |
| T22 | 1111-1119 | GeneOrGeneProduct | denotes | hepcidin |
| T23 | 1166-1179 | DiseaseOrPhenotypicFeature | denotes | iron overload |
| T24 | 1189-1193 | ChemicalEntity | denotes | iron |
| T25 | 1270-1281 | ChemicalEntity | denotes | deferasirox |
| T26 | 1322-1329 | GeneOrGeneProduct | denotes | insulin |
| T27 | 1442-1455 | DiseaseOrPhenotypicFeature | denotes | iron overload |
| T28 | 1470-1488 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T29 | 1566-1570 | ChemicalEntity | denotes | iron |
| T30 | 1615-1619 | ChemicalEntity | denotes | Iron |
| T31 | 1636-1654 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T32 | 1689-1693 | ChemicalEntity | denotes | iron |
| T33 | 1708-1716 | GeneOrGeneProduct | denotes | hepcidin |
| T34 | 1761-1774 | DiseaseOrPhenotypicFeature | denotes | iron overload |
| T35 | 1776-1780 | ChemicalEntity | denotes | Iron |
| T36 | 1796-1807 | ChemicalEntity | denotes | deferasirox |
| T37 | 1844-1848 | ChemicalEntity | denotes | iron |
biored-valid-gemini-r-m
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 22-26 | ChemicalEntity | denotes | iron |
| T2 | 50-61 | ChemicalEntity | denotes | deferasirox |
| T3 | 65-83 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T4 | 133-151 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T5 | 182-207 | DiseaseOrPhenotypicFeature | denotes | neurodegenerative disease |
| T6 | 240-257 | DiseaseOrPhenotypicFeature | denotes | iron accumulation |
| T7 | 288-306 | DiseaseOrPhenotypicFeature | denotes | movement disorders |
| T8 | 308-328 | DiseaseOrPhenotypicFeature | denotes | retinal degeneration |
| T9 | 334-351 | DiseaseOrPhenotypicFeature | denotes | diabetes mellitus |
| T10 | 353-366 | GeneOrGeneProduct | denotes | Ceruloplasmin |
| T11 | 378-384 | ChemicalEntity | denotes | copper |
| T12 | 385-396 | GeneOrGeneProduct | denotes | ferroxidase |
| T13 | 451-455 | ChemicalEntity | denotes | iron |
| T14 | 483-494 | GeneOrGeneProduct | denotes | transferrin |
| T15 | 524-542 | GeneOrGeneProduct | denotes | ceruloplasmin gene |
| T16 | 553-564 | SequenceVariant | denotes | c.2554+1G>T |
| T17 | 597-615 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T18 | 634-642 | OrganismTaxon | denotes | siblings |
| T19 | 672-690 | DiseaseOrPhenotypicFeature | denotes | movement disorders |
| T20 | 695-703 | DiseaseOrPhenotypicFeature | denotes | diabetes |
| T21 | 767-786 | SequenceVariant | denotes | skipping of exon 14 |
| T22 | 791-822 | SequenceVariant | denotes | deletion of amino acids 809-852 |
| T23 | 920-928 | OrganismTaxon | denotes | patients |
| T24 | 984-1002 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T25 | 1046-1059 | DiseaseOrPhenotypicFeature | denotes | iron overload |
| T26 | 1075-1079 | GeneOrGeneProduct | denotes | mRNA |
| T27 | 1098-1102 | ChemicalEntity | denotes | iron |
| T28 | 1111-1119 | GeneOrGeneProduct | denotes | hepcidin |
| T29 | 1166-1179 | DiseaseOrPhenotypicFeature | denotes | iron overload |
| T30 | 1270-1281 | ChemicalEntity | denotes | deferasirox |
| T31 | 1322-1329 | GeneOrGeneProduct | denotes | insulin |
| T32 | 1442-1455 | DiseaseOrPhenotypicFeature | denotes | iron overload |
| T33 | 1470-1488 | DiseaseOrPhenotypicFeature | denotes | Aceruloplasminemia |
| T34 | 1566-1583 | DiseaseOrPhenotypicFeature | denotes | iron accumulation |
| T35 | 1615-1632 | DiseaseOrPhenotypicFeature | denotes | Iron accumulation |
| T36 | 1636-1654 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T37 | 1708-1716 | GeneOrGeneProduct | denotes | hepcidin |
| T38 | 1761-1774 | DiseaseOrPhenotypicFeature | denotes | iron overload |
| T39 | 1796-1807 | ChemicalEntity | denotes | deferasirox |
biored-valid-deepseek-r-m
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 22-26 | ChemicalEntity | denotes | iron |
| T2 | 50-61 | ChemicalEntity | denotes | deferasirox |
| T3 | 65-83 | DiseaseOrPhenotypicFeature | denotes | aceruloplasminemia |
| T4 | 240-257 | DiseaseOrPhenotypicFeature | denotes | iron accumulation |
| T5 | 288-306 | DiseaseOrPhenotypicFeature | denotes | movement disorders |
| T6 | 308-328 | DiseaseOrPhenotypicFeature | denotes | retinal degeneration |
| T7 | 334-351 | DiseaseOrPhenotypicFeature | denotes | diabetes mellitus |
| T8 | 353-366 | GeneOrGeneProduct | denotes | Ceruloplasmin |
| T9 | 483-494 | GeneOrGeneProduct | denotes | transferrin |
| T10 | 553-564 | SequenceVariant | denotes | c.2554+1G>T |
| T11 | 1046-1059 | DiseaseOrPhenotypicFeature | denotes | iron overload |
| T12 | 1111-1119 | GeneOrGeneProduct | denotes | hepcidin |
| T13 | 1322-1329 | GeneOrGeneProduct | denotes | insulin |