PubMed:15069170
Annnotations
LitCoin-entities
| Id | Subject | Object | Predicate | Lexical cue | db_id |
|---|---|---|---|---|---|
| 652 | 28-36 | ChemicalEntity | denotes | thiazide | MESH:D049971 |
| 653 | 47-67 | GeneOrGeneProduct | denotes | Na-Cl co-transporter | NCBIGene:6559 |
| 654 | 85-93 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
| 655 | 99-118 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome | MESH:D053579 |
| 656 | 132-151 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome | MESH:D053579 |
| 657 | 153-155 | DiseaseOrPhenotypicFeature | denotes | GS | MESH:D053579 |
| 658 | 163-191 | DiseaseOrPhenotypicFeature | denotes | autosomal recessive disorder | MESH:D030342 |
| 659 | 237-245 | ChemicalEntity | denotes | thiazide | MESH:D049971 |
| 660 | 256-276 | GeneOrGeneProduct | denotes | Na-Cl co-transporter | NCBIGene:6559 |
| 661 | 278-282 | GeneOrGeneProduct | denotes | NCCT | NCBIGene:6559 |
| 662 | 463-467 | GeneOrGeneProduct | denotes | NCCT | NCBIGene:6559 |
| 663 | 491-499 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
| 664 | 505-507 | DiseaseOrPhenotypicFeature | denotes | GS | MESH:D053579 |
| 665 | 572-580 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
| 666 | 586-588 | DiseaseOrPhenotypicFeature | denotes | GS | MESH:D053579 |
| 667 | 668-672 | GeneOrGeneProduct | denotes | NCCT | NCBIGene:6559 |
| 668 | 790-798 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
| 669 | 930-938 | SequenceVariant | denotes | c.185C>T | DBSNP:rs371443644 |
| 670 | 940-948 | SequenceVariant | denotes | Thr60Met | DBSNP:rs371443644 |
| 671 | 951-960 | SequenceVariant | denotes | c.1712C>T | DBSNP:rs79351185 |
| 672 | 962-971 | SequenceVariant | denotes | Ala569Val | DBSNP:rs79351185 |
| 673 | 974-983 | SequenceVariant | denotes | c.1930C>T | DBSNP:rs200697179 |
| 674 | 985-994 | SequenceVariant | denotes | Arg642Cys | DBSNP:rs200697179 |
| 675 | 997-1006 | SequenceVariant | denotes | c.2552T>A | DBSNP:rs185927948 |
| 676 | 1008-1017 | SequenceVariant | denotes | Leu849His | DBSNP:rs185927948 |
| 677 | 1023-1033 | SequenceVariant | denotes | c.1932delC | c|DEL|1932|C |
| 678 | 1066-1074 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
| 679 | 1087-1089 | DiseaseOrPhenotypicFeature | denotes | GS | MESH:D053579 |
| 680 | 1090-1098 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
| 681 | 1155-1161 | SequenceVariant | denotes | c.7A>T | c|SUB|A|7|T |
| 682 | 1163-1170 | SequenceVariant | denotes | Met1Leu | p|SUB|M|1|L |
| 683 | 1173-1192 | SequenceVariant | denotes | c.1181_1186+20del26 | c|DEL|1181_1186+20|26 |
| 684 | 1194-1210 | SequenceVariant | denotes | c.1811_1812delAT | c|DEL|1811_1812|AT |
| 685 | 1215-1225 | SequenceVariant | denotes | IVS16+1G>A | c|SUB|G|IVS16+1|A |
| 686 | 1262-1269 | OrganismTaxon | denotes | patient | NCBITaxon:9606 |
| 687 | 1275-1294 | SequenceVariant | denotes | c.1181_1186+20del26 | c|DEL|1181_1186+20|26 |
| 688 | 1394-1402 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
| 689 | 1408-1418 | SequenceVariant | denotes | IVS16+1G>A | c|SUB|G|IVS16+1|A |
| 690 | 1434-1449 | SequenceVariant | denotes | 96 bp insertion | c|INS||96 |
| 691 | 1505-1513 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
| 692 | 1655-1659 | GeneOrGeneProduct | denotes | NCCT | NCBIGene:6559 |
| 693 | 1683-1691 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
| 694 | 1697-1699 | DiseaseOrPhenotypicFeature | denotes | GS | MESH:D053579 |
| 695 | 1772-1776 | GeneOrGeneProduct | denotes | NCCT | NCBIGene:6559 |
| 696 | 1794-1796 | DiseaseOrPhenotypicFeature | denotes | GS | MESH:D053579 |
| 697 | 1797-1805 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
LitCoin-sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-119 | Sentence | denotes | Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome. |
| T2 | 120-131 | Sentence | denotes | BACKGROUND: |
| T3 | 132-289 | Sentence | denotes | Gitelman's syndrome (GS) is an autosomal recessive disorder resulting from inactivating mutations in the thiazide-sensitive Na-Cl co-transporter (NCCT) gene. |
| T4 | 290-340 | Sentence | denotes | To date, almost 90 mutations have been identified. |
| T5 | 341-418 | Sentence | denotes | It is possible that there is a population-specific distribution of mutations. |
| T6 | 419-508 | Sentence | denotes | In this study, we analysed mutations in the NCCT gene of seven Japanese patients with GS. |
| T7 | 509-517 | Sentence | denotes | METHODS: |
| T8 | 518-640 | Sentence | denotes | Peripheral blood mononuclear cells were isolated from patients with GS, their family members and healthy control subjects. |
| T9 | 641-786 | Sentence | denotes | A mutation analysis of the NCCT gene was performed completely by direct automated sequencing of polymerase chain reaction-amplified DNA products. |
| T10 | 787-876 | Sentence | denotes | In patients with a deletion or splice site mutation, we undertook cDNA sequence analysis. |
| T11 | 877-885 | Sentence | denotes | RESULTS: |
| T12 | 886-915 | Sentence | denotes | We identified nine mutations. |
| T13 | 916-1124 | Sentence | denotes | Five of them [c.185C>T (Thr60Met), c.1712C>T (Ala569Val), c.1930C>T (Arg642Cys), c.2552T>A (Leu849His) and c.1932delC] have been reported in Japanese patients, but not in GS patients from other ethnic groups. |
| T14 | 1125-1238 | Sentence | denotes | The remaining four mutations [c.7A>T (Met1Leu), c.1181_1186+20del26, c.1811_1812delAT and IVS16+1G>A] were novel. |
| T15 | 1239-1372 | Sentence | denotes | In cDNA derived from a patient with c.1181_1186+20del26, a deletion of exon 9 and a frameshift at the start of exon 10 were observed. |
| T16 | 1373-1487 | Sentence | denotes | In cDNA derived from patients with IVS16+1G>A, an additional 96 bp insertion between exons 16 and 17 was observed. |
| T17 | 1488-1604 | Sentence | denotes | Six out of seven patients were compound heterozygotes, and the remaining one carried a single heterozygous mutation. |
| T18 | 1605-1617 | Sentence | denotes | CONCLUSIONS: |
| T19 | 1618-1700 | Sentence | denotes | We found four novel mutations in the NCCT gene in seven Japanese patients with GS. |
| T20 | 1701-1857 | Sentence | denotes | Moreover, our study suggests that the distribution of mutations in the NCCT gene in Japanese GS patients potentially differs from that in other populations. |
LitCoin_Mondo
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 99-118 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome | 0009904 |
| T2 | 132-151 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome | 0009904 |
| T3 | 692-702 | DiseaseOrPhenotypicFeature | denotes | completely | 0700063 |
LitCoin-SeqVar
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 930-938 | SequenceVariant | denotes | c.185C>T |
| T2 | 940-948 | SequenceVariant | denotes | Thr60Met |
| T3 | 951-960 | SequenceVariant | denotes | c.1712C>T |
| T4 | 962-971 | SequenceVariant | denotes | Ala569Val |
| T5 | 974-983 | SequenceVariant | denotes | c.1930C>T |
| T6 | 985-994 | SequenceVariant | denotes | Arg642Cys |
| T7 | 997-1006 | SequenceVariant | denotes | c.2552T>A |
| T8 | 1008-1017 | SequenceVariant | denotes | Leu849His |
| T9 | 1023-1033 | SequenceVariant | denotes | c.1932delC |
| T10 | 1155-1161 | SequenceVariant | denotes | c.7A>T |
| T11 | 1163-1170 | SequenceVariant | denotes | Met1Leu |
| T12 | 1173-1185 | SequenceVariant | denotes | c.1181_1186+ |
| T13 | 1185-1192 | SequenceVariant | denotes | 20del26 |
| T14 | 1194-1210 | SequenceVariant | denotes | c.1811_1812delAT |
| T15 | 1275-1287 | SequenceVariant | denotes | c.1181_1186+ |
| T16 | 1287-1294 | SequenceVariant | denotes | 20del26 |
| T17 | 1298-1314 | SequenceVariant | denotes | deletion of exon |
| T18 | 1434-1449 | SequenceVariant | denotes | 96 bp insertion |
LitCoin-GeneOrGeneProduct-v0
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 5-10 | GeneOrGeneProduct | denotes | novel |
| T2 | 11-20 | GeneOrGeneProduct | denotes | mutations |
| T3 | 56-67 | GeneOrGeneProduct | denotes | transporter |
| T4 | 110-118 | GeneOrGeneProduct | denotes | syndrome |
| T5 | 143-151 | GeneOrGeneProduct | denotes | syndrome |
| T6 | 153-155 | GeneOrGeneProduct | denotes | GS |
| T7 | 220-229 | GeneOrGeneProduct | denotes | mutations |
| T8 | 265-276 | GeneOrGeneProduct | denotes | transporter |
| T9 | 278-282 | GeneOrGeneProduct | denotes | NCCT |
| T10 | 299-305 | GeneOrGeneProduct | denotes | almost |
| T11 | 309-318 | GeneOrGeneProduct | denotes | mutations |
| T12 | 405-417 | GeneOrGeneProduct | denotes | of mutations |
| T13 | 446-455 | GeneOrGeneProduct | denotes | mutations |
| T14 | 463-467 | GeneOrGeneProduct | denotes | NCCT |
| T15 | 505-507 | GeneOrGeneProduct | denotes | GS |
| T16 | 509-516 | GeneOrGeneProduct | denotes | METHODS |
| T17 | 547-552 | GeneOrGeneProduct | denotes | cells |
| T18 | 586-588 | GeneOrGeneProduct | denotes | GS |
| T19 | 643-651 | GeneOrGeneProduct | denotes | mutation |
| T20 | 668-672 | GeneOrGeneProduct | denotes | NCCT |
| T21 | 737-747 | GeneOrGeneProduct | denotes | polymerase |
| T22 | 748-753 | GeneOrGeneProduct | denotes | chain |
| T23 | 777-785 | GeneOrGeneProduct | denotes | products |
| T24 | 818-824 | GeneOrGeneProduct | denotes | splice |
| T25 | 830-838 | GeneOrGeneProduct | denotes | mutation |
| T26 | 853-857 | GeneOrGeneProduct | denotes | cDNA |
| T27 | 900-904 | GeneOrGeneProduct | denotes | nine |
| T28 | 905-914 | GeneOrGeneProduct | denotes | mutations |
| T29 | 924-928 | GeneOrGeneProduct | denotes | them |
| T30 | 1087-1089 | GeneOrGeneProduct | denotes | GS |
| T31 | 1104-1109 | GeneOrGeneProduct | denotes | other |
| T32 | 1144-1153 | GeneOrGeneProduct | denotes | mutations |
| T33 | 1232-1237 | GeneOrGeneProduct | denotes | novel |
| T34 | 1242-1246 | GeneOrGeneProduct | denotes | cDNA |
| T35 | 1341-1346 | GeneOrGeneProduct | denotes | start |
| T36 | 1376-1380 | GeneOrGeneProduct | denotes | cDNA |
| T37 | 1492-1495 | GeneOrGeneProduct | denotes | out |
| T38 | 1595-1603 | GeneOrGeneProduct | denotes | mutation |
| T39 | 1632-1637 | GeneOrGeneProduct | denotes | novel |
| T40 | 1638-1647 | GeneOrGeneProduct | denotes | mutations |
| T41 | 1655-1659 | GeneOrGeneProduct | denotes | NCCT |
| T42 | 1697-1699 | GeneOrGeneProduct | denotes | GS |
| T43 | 1752-1764 | GeneOrGeneProduct | denotes | of mutations |
| T44 | 1772-1776 | GeneOrGeneProduct | denotes | NCCT |
| T45 | 1794-1796 | GeneOrGeneProduct | denotes | GS |
| T46 | 1839-1844 | GeneOrGeneProduct | denotes | other |
LitCoin-GeneOrGeneProduct-v2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 5-10 | GeneOrGeneProduct | denotes | novel |
| T2 | 56-67 | GeneOrGeneProduct | denotes | transporter |
| T3 | 110-118 | GeneOrGeneProduct | denotes | syndrome |
| T4 | 143-151 | GeneOrGeneProduct | denotes | syndrome |
| T5 | 265-276 | GeneOrGeneProduct | denotes | transporter |
| T6 | 278-282 | GeneOrGeneProduct | denotes | NCCT |
| T7 | 463-467 | GeneOrGeneProduct | denotes | NCCT |
| T8 | 668-672 | GeneOrGeneProduct | denotes | NCCT |
| T9 | 737-747 | GeneOrGeneProduct | denotes | polymerase |
| T10 | 748-753 | GeneOrGeneProduct | denotes | chain |
| T11 | 853-857 | GeneOrGeneProduct | denotes | cDNA |
| T12 | 1104-1109 | GeneOrGeneProduct | denotes | other |
| T13 | 1232-1237 | GeneOrGeneProduct | denotes | novel |
| T14 | 1242-1246 | GeneOrGeneProduct | denotes | cDNA |
| T15 | 1341-1346 | GeneOrGeneProduct | denotes | start |
| T16 | 1376-1380 | GeneOrGeneProduct | denotes | cDNA |
| T17 | 1632-1637 | GeneOrGeneProduct | denotes | novel |
| T18 | 1655-1659 | GeneOrGeneProduct | denotes | NCCT |
| T19 | 1772-1776 | GeneOrGeneProduct | denotes | NCCT |
| T20 | 1839-1844 | GeneOrGeneProduct | denotes | other |
LitCoin-Disease-MeSH
| Id | Subject | Object | Predicate | Lexical cue | originalLabel |
|---|---|---|---|---|---|
| T1 | 99-118 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome | D053579 |
| T2 | 132-151 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome | D053579 |
| T3 | 153-155 | DiseaseOrPhenotypicFeature | denotes | GS | D053579 |
| T4 | 163-191 | DiseaseOrPhenotypicFeature | denotes | autosomal recessive disorder | DISEASE |
| T5 | 505-507 | DiseaseOrPhenotypicFeature | denotes | GS | D053579 |
| T6 | 586-588 | DiseaseOrPhenotypicFeature | denotes | GS | D053579 |
| T7 | 1087-1089 | DiseaseOrPhenotypicFeature | denotes | GS | D053579 |
| T8 | 1697-1699 | DiseaseOrPhenotypicFeature | denotes | GS | D053579 |
| T9 | 1794-1796 | DiseaseOrPhenotypicFeature | denotes | GS | D053579 |
LitCoin-GeneOrGeneProduct-v3
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 28-67 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter |
| T2 | 237-276 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter |
| T3 | 278-282 | GeneOrGeneProduct | denotes | NCCT |
| T4 | 463-467 | GeneOrGeneProduct | denotes | NCCT |
| T5 | 668-672 | GeneOrGeneProduct | denotes | NCCT |
| T6 | 1655-1659 | GeneOrGeneProduct | denotes | NCCT |
| T7 | 1772-1776 | GeneOrGeneProduct | denotes | NCCT |
LitCoin_Mondo_095
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 37-46 | DiseaseOrPhenotypicFeature | denotes | sensitive | 0000605 |
| T2 | 99-118 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome | 0009904 |
| T3 | 132-151 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome | 0009904 |
| T4 | 153-155 | DiseaseOrPhenotypicFeature | denotes | GS | 0005773|0009904 |
| T6 | 246-255 | DiseaseOrPhenotypicFeature | denotes | sensitive | 0000605 |
| T7 | 505-507 | DiseaseOrPhenotypicFeature | denotes | GS | 0005773|0009904 |
| T9 | 586-588 | DiseaseOrPhenotypicFeature | denotes | GS | 0005773|0009904 |
| T11 | 1087-1089 | DiseaseOrPhenotypicFeature | denotes | GS | 0005773|0009904 |
| T13 | 1697-1699 | DiseaseOrPhenotypicFeature | denotes | GS | 0005773|0009904 |
| T15 | 1794-1796 | DiseaseOrPhenotypicFeature | denotes | GS | 0005773|0009904 |
LitCoin-MeSH-Disease-2
| Id | Subject | Object | Predicate | Lexical cue | ID: |
|---|---|---|---|---|---|
| T1 | 99-118 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome | D053579 |
| T2 | 132-151 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome | D053579 |
| T3 | 153-155 | DiseaseOrPhenotypicFeature | denotes | GS | D053579 |
| T4 | 163-191 | DiseaseOrPhenotypicFeature | denotes | autosomal recessive disorder | DISEASE |
| T5 | 505-507 | DiseaseOrPhenotypicFeature | denotes | GS | D053579 |
| T6 | 586-588 | DiseaseOrPhenotypicFeature | denotes | GS | D053579 |
| T7 | 1087-1089 | DiseaseOrPhenotypicFeature | denotes | GS | D053579 |
| T8 | 1697-1699 | DiseaseOrPhenotypicFeature | denotes | GS | D053579 |
| T9 | 1794-1796 | DiseaseOrPhenotypicFeature | denotes | GS | D053579 |
LitCoin-MONDO_bioort2019
| Id | Subject | Object | Predicate | Lexical cue | #label |
|---|---|---|---|---|---|
| T1 | 99-118 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome | D053579 |
| T2 | 132-151 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome | D053579 |
| T3 | 153-155 | DiseaseOrPhenotypicFeature | denotes | GS | D053579 |
| T4 | 163-191 | DiseaseOrPhenotypicFeature | denotes | autosomal recessive disorder | DISEASE |
| T5 | 505-507 | DiseaseOrPhenotypicFeature | denotes | GS | D053579 |
| T6 | 586-588 | DiseaseOrPhenotypicFeature | denotes | GS | D053579 |
| T7 | 1087-1089 | DiseaseOrPhenotypicFeature | denotes | GS | D053579 |
| T8 | 1697-1699 | DiseaseOrPhenotypicFeature | denotes | GS | D053579 |
| T9 | 1794-1796 | DiseaseOrPhenotypicFeature | denotes | GS | D053579 |
LitCoin-Chemical-MeSH-CHEBI
| Id | Subject | Object | Predicate | Lexical cue | ID: |
|---|---|---|---|---|---|
| T1 | 28-36 | ChemicalEntity | denotes | thiazide | D049971|http://purl.obolibrary.org/obo/CHEBI_50264 |
| T3 | 237-245 | ChemicalEntity | denotes | thiazide | D049971|http://purl.obolibrary.org/obo/CHEBI_50264 |
LitCoin-NCBITaxon-2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 85-93 | OrganismTaxon | denotes | patients |
| T2 | 491-499 | OrganismTaxon | denotes | patients |
| T3 | 572-580 | OrganismTaxon | denotes | patients |
| T4 | 790-798 | OrganismTaxon | denotes | patients |
| T5 | 1066-1074 | OrganismTaxon | denotes | patients |
| T6 | 1090-1098 | OrganismTaxon | denotes | patients |
| T7 | 1262-1269 | OrganismTaxon | denotes | patient |
| T8 | 1394-1402 | OrganismTaxon | denotes | patients |
| T9 | 1505-1513 | OrganismTaxon | denotes | patients |
| T10 | 1683-1691 | OrganismTaxon | denotes | patients |
| T11 | 1797-1805 | OrganismTaxon | denotes | patients |
LitCoin-training-merged
| Id | Subject | Object | Predicate | Lexical cue | #label | ID: |
|---|---|---|---|---|---|---|
| T3 | 237-245 | ChemicalEntity | denotes | thiazide | http://purl.obolibrary.org/obo/CHEBI_50264|D049971 | |
| T1 | 28-36 | ChemicalEntity | denotes | thiazide | http://purl.obolibrary.org/obo/CHEBI_50264|D049971 | |
| T7 | 1772-1776 | GeneOrGeneProduct | denotes | NCCT | ||
| T6 | 1655-1659 | GeneOrGeneProduct | denotes | NCCT | ||
| T5 | 668-672 | GeneOrGeneProduct | denotes | NCCT | ||
| T4 | 463-467 | GeneOrGeneProduct | denotes | NCCT | ||
| T75963 | 278-282 | GeneOrGeneProduct | denotes | NCCT | ||
| T2 | 237-276 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter | ||
| T87103 | 28-67 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter | ||
| T9 | 1794-1796 | DiseaseOrPhenotypicFeature | denotes | GS | D053579 | |
| T8 | 1697-1699 | DiseaseOrPhenotypicFeature | denotes | GS | D053579 | |
| T52805 | 1087-1089 | DiseaseOrPhenotypicFeature | denotes | GS | D053579 | |
| T93111 | 586-588 | DiseaseOrPhenotypicFeature | denotes | GS | D053579 | |
| T45611 | 505-507 | DiseaseOrPhenotypicFeature | denotes | GS | D053579 | |
| T65339 | 163-191 | DiseaseOrPhenotypicFeature | denotes | autosomal recessive disorder | DISEASE | |
| T39985 | 153-155 | DiseaseOrPhenotypicFeature | denotes | GS | D053579 | |
| T88740 | 132-151 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome | D053579 | |
| T2530 | 99-118 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome | D053579 | |
| T11 | 1797-1805 | OrganismTaxon | denotes | patients | ||
| T10 | 1683-1691 | OrganismTaxon | denotes | patients | ||
| T89543 | 1505-1513 | OrganismTaxon | denotes | patients | ||
| T88792 | 1394-1402 | OrganismTaxon | denotes | patients | ||
| T56836 | 1262-1269 | OrganismTaxon | denotes | patient | ||
| T78149 | 1090-1098 | OrganismTaxon | denotes | patients | ||
| T53823 | 1066-1074 | OrganismTaxon | denotes | patients | ||
| T63559 | 790-798 | OrganismTaxon | denotes | patients | ||
| T62226 | 572-580 | OrganismTaxon | denotes | patients | ||
| T70879 | 491-499 | OrganismTaxon | denotes | patients | ||
| T80246 | 85-93 | OrganismTaxon | denotes | patients | ||
| T18 | 1434-1449 | SequenceVariant | denotes | 96 bp insertion | ||
| T17 | 1298-1314 | SequenceVariant | denotes | deletion of exon | ||
| T16 | 1287-1294 | SequenceVariant | denotes | 20del26 | ||
| T15 | 1275-1287 | SequenceVariant | denotes | c.1181_1186+ | ||
| T14 | 1194-1210 | SequenceVariant | denotes | c.1811_1812delAT | ||
| T13 | 1185-1192 | SequenceVariant | denotes | 20del26 | ||
| T12 | 1173-1185 | SequenceVariant | denotes | c.1181_1186+ | ||
| T9164 | 1163-1170 | SequenceVariant | denotes | Met1Leu | ||
| T11923 | 1155-1161 | SequenceVariant | denotes | c.7A>T | ||
| T58171 | 1023-1033 | SequenceVariant | denotes | c.1932delC | ||
| T41749 | 1008-1017 | SequenceVariant | denotes | Leu849His | ||
| T32471 | 997-1006 | SequenceVariant | denotes | c.2552T>A | ||
| T50886 | 985-994 | SequenceVariant | denotes | Arg642Cys | ||
| T72704 | 974-983 | SequenceVariant | denotes | c.1930C>T | ||
| T53707 | 962-971 | SequenceVariant | denotes | Ala569Val | ||
| T82158 | 951-960 | SequenceVariant | denotes | c.1712C>T | ||
| T69119 | 940-948 | SequenceVariant | denotes | Thr60Met | ||
| T51130 | 930-938 | SequenceVariant | denotes | c.185C>T |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 15069170-1#146#150#gene6559 | 278-282 | gene6559 | denotes | NCCT |
| 15069170-1#31#59#diseaseC3899988 | 163-191 | diseaseC3899988 | denotes | autosomal recessive disorder |
| 15069170-13#37#41#gene6559 | 1655-1659 | gene6559 | denotes | NCCT |
| 15069170-13#79#81#diseaseC0268450 | 1697-1699 | diseaseC0268450 | denotes | GS |
| 146#150#gene655931#59#diseaseC3899988 | 15069170-1#146#150#gene6559 | 15069170-1#31#59#diseaseC3899988 | associated_with | NCCT,autosomal recessive disorder |
| 37#41#gene655979#81#diseaseC0268450 | 15069170-13#37#41#gene6559 | 15069170-13#79#81#diseaseC0268450 | associated_with | NCCT,GS |
tmVarCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 930-938 | DNAMutation:c|SUB|C|185|T | denotes | c.185C>T |
| T2 | 940-948 | ProteinMutation:p|SUB|T|60|M | denotes | Thr60Met |
| T3 | 951-960 | DNAMutation:c|SUB|C|1712|T | denotes | c.1712C>T |
| T4 | 962-971 | ProteinMutation:p|SUB|A|569|V | denotes | Ala569Val |
| T5 | 974-983 | DNAMutation:c|SUB|C|1930|T | denotes | c.1930C>T |
| T6 | 985-994 | ProteinMutation:p|SUB|R|642|C | denotes | Arg642Cys |
| T7 | 997-1006 | DNAMutation:c|SUB|T|2552|A | denotes | c.2552T>A |
| T8 | 1008-1017 | ProteinMutation:p|SUB|L|849|H | denotes | Leu849His |
| T9 | 1023-1033 | DNAMutation:c|DEL|1932|C | denotes | c.1932delC |
| T10 | 1155-1161 | DNAMutation:c|SUB|A|7|T | denotes | c.7A>T |
| T11 | 1163-1170 | ProteinMutation:p|SUB|M|1|L | denotes | Met1Leu |
| T12 | 1173-1192 | DNAMutation:c|DEL|1181_1186+20|26 | denotes | c.1181_1186+20del26 |
| T13 | 1194-1210 | DNAMutation:c|DEL|1811_1812|AT | denotes | c.1811_1812delAT |
| T14 | 1215-1225 | DNAMutation:c|SUB|G|IVS16+1|A | denotes | IVS16+1G>A |
| T15 | 1275-1294 | DNAMutation:c|DEL|1181_1186+20|26 | denotes | c.1181_1186+20del26 |
| T16 | 1408-1418 | DNAMutation:c|SUB|G|IVS16+1|A | denotes | IVS16+1G>A |
biored-valid-deepseek-nr-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-4 | SequenceVariant | denotes | Four |
| T2 | 5-10 | SequenceVariant | denotes | novel |
| T3 | 11-20 | SequenceVariant | denotes | mutations |
| T4 | 28-72 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter gene |
| T5 | 76-84 | OrganismTaxon | denotes | Japanese |
| T6 | 99-118 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome |
| T7 | 132-151 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome |
| T8 | 153-155 | DiseaseOrPhenotypicFeature | denotes | GS |
| T9 | 237-276 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter |
| T10 | 278-282 | GeneOrGeneProduct | denotes | NCCT |
| T11 | 284-288 | GeneOrGeneProduct | denotes | gene |
| T12 | 309-318 | SequenceVariant | denotes | mutations |
| T13 | 446-455 | SequenceVariant | denotes | mutations |
| T14 | 463-467 | GeneOrGeneProduct | denotes | NCCT |
| T15 | 468-472 | GeneOrGeneProduct | denotes | gene |
| T16 | 482-490 | OrganismTaxon | denotes | Japanese |
| T17 | 491-499 | OrganismTaxon | denotes | patients |
| T18 | 505-507 | DiseaseOrPhenotypicFeature | denotes | GS |
| T19 | 572-580 | OrganismTaxon | denotes | patients |
| T20 | 586-588 | DiseaseOrPhenotypicFeature | denotes | GS |
| T21 | 668-672 | GeneOrGeneProduct | denotes | NCCT |
| T22 | 673-677 | GeneOrGeneProduct | denotes | gene |
biored-valid
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 28-36 | ChemicalEntity | denotes | thiazide |
| T2 | 47-67 | GeneOrGeneProduct | denotes | Na-Cl co-transporter |
| T3 | 85-93 | OrganismTaxon | denotes | patients |
| T4 | 99-118 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome |
| T5 | 132-151 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome |
| T6 | 153-155 | DiseaseOrPhenotypicFeature | denotes | GS |
| T7 | 163-191 | DiseaseOrPhenotypicFeature | denotes | autosomal recessive disorder |
| T8 | 237-245 | ChemicalEntity | denotes | thiazide |
| T9 | 256-276 | GeneOrGeneProduct | denotes | Na-Cl co-transporter |
| T10 | 278-282 | GeneOrGeneProduct | denotes | NCCT |
| T11 | 463-467 | GeneOrGeneProduct | denotes | NCCT |
| T12 | 491-499 | OrganismTaxon | denotes | patients |
| T13 | 505-507 | DiseaseOrPhenotypicFeature | denotes | GS |
| T14 | 572-580 | OrganismTaxon | denotes | patients |
| T15 | 586-588 | DiseaseOrPhenotypicFeature | denotes | GS |
| T16 | 668-672 | GeneOrGeneProduct | denotes | NCCT |
| T17 | 790-798 | OrganismTaxon | denotes | patients |
| T18 | 930-938 | SequenceVariant | denotes | c.185C>T |
| T19 | 940-948 | SequenceVariant | denotes | Thr60Met |
| T20 | 951-960 | SequenceVariant | denotes | c.1712C>T |
| T21 | 962-971 | SequenceVariant | denotes | Ala569Val |
| T22 | 974-983 | SequenceVariant | denotes | c.1930C>T |
| T23 | 985-994 | SequenceVariant | denotes | Arg642Cys |
| T24 | 997-1006 | SequenceVariant | denotes | c.2552T>A |
| T25 | 1008-1017 | SequenceVariant | denotes | Leu849His |
| T26 | 1023-1033 | SequenceVariant | denotes | c.1932delC |
| T27 | 1066-1074 | OrganismTaxon | denotes | patients |
| T28 | 1087-1089 | DiseaseOrPhenotypicFeature | denotes | GS |
| T29 | 1090-1098 | OrganismTaxon | denotes | patients |
| T30 | 1155-1161 | SequenceVariant | denotes | c.7A>T |
| T31 | 1163-1170 | SequenceVariant | denotes | Met1Leu |
| T32 | 1173-1192 | SequenceVariant | denotes | c.1181_1186+20del26 |
| T33 | 1194-1210 | SequenceVariant | denotes | c.1811_1812delAT |
| T34 | 1215-1225 | SequenceVariant | denotes | IVS16+1G>A |
| T35 | 1262-1269 | OrganismTaxon | denotes | patient |
| T36 | 1275-1294 | SequenceVariant | denotes | c.1181_1186+20del26 |
| T37 | 1394-1402 | OrganismTaxon | denotes | patients |
| T38 | 1408-1418 | SequenceVariant | denotes | IVS16+1G>A |
| T39 | 1434-1449 | SequenceVariant | denotes | 96 bp insertion |
| T40 | 1505-1513 | OrganismTaxon | denotes | patients |
| T41 | 1655-1659 | GeneOrGeneProduct | denotes | NCCT |
| T42 | 1683-1691 | OrganismTaxon | denotes | patients |
| T43 | 1697-1699 | DiseaseOrPhenotypicFeature | denotes | GS |
| T44 | 1772-1776 | GeneOrGeneProduct | denotes | NCCT |
| T45 | 1794-1796 | DiseaseOrPhenotypicFeature | denotes | GS |
| T46 | 1797-1805 | OrganismTaxon | denotes | patients |
biored-valid-deepseek-nr-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 28-72 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter gene |
| T2 | 99-118 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome |
| T3 | 132-151 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome |
| T4 | 237-276 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter |
| T5 | 278-282 | GeneOrGeneProduct | denotes | NCCT |
| T6 | 284-288 | GeneOrGeneProduct | denotes | gene |
| T7 | 463-467 | GeneOrGeneProduct | denotes | NCCT |
| T8 | 468-472 | GeneOrGeneProduct | denotes | gene |
| T9 | 505-507 | DiseaseOrPhenotypicFeature | denotes | GS |
| T10 | 668-672 | GeneOrGeneProduct | denotes | NCCT |
| T11 | 673-677 | GeneOrGeneProduct | denotes | gene |
| T12 | 853-857 | GeneOrGeneProduct | denotes | cDNA |
| T13 | 1087-1089 | DiseaseOrPhenotypicFeature | denotes | GS |
biored-valid-deepseek-r-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 28-72 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter gene |
| T2 | 99-118 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome |
| T3 | 132-151 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome |
| T4 | 153-155 | DiseaseOrPhenotypicFeature | denotes | GS |
| T5 | 237-276 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter |
| T6 | 278-282 | GeneOrGeneProduct | denotes | NCCT |
| T7 | 463-472 | GeneOrGeneProduct | denotes | NCCT gene |
| T8 | 930-938 | SequenceVariant | denotes | c.185C>T |
| T9 | 951-960 | SequenceVariant | denotes | c.1712C>T |
| T10 | 974-983 | SequenceVariant | denotes | c.1930C>T |
| T11 | 997-1006 | SequenceVariant | denotes | c.2552T>A |
| T12 | 1023-1033 | SequenceVariant | denotes | c.1932delC |
| T13 | 1155-1161 | SequenceVariant | denotes | c.7A>T |
| T14 | 1173-1192 | SequenceVariant | denotes | c.1181_1186+20del26 |
| T15 | 1194-1210 | SequenceVariant | denotes | c.1811_1812delAT |
| T16 | 1215-1225 | SequenceVariant | denotes | IVS16+1G>A |
| T17 | 1655-1664 | GeneOrGeneProduct | denotes | NCCT gene |
biored-valid-deepseek-r-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 28-72 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter gene |
| T2 | 99-118 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome |
| T3 | 153-155 | DiseaseOrPhenotypicFeature | denotes | GS |
| T4 | 237-288 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter (NCCT) gene |
| T5 | 463-472 | GeneOrGeneProduct | denotes | NCCT gene |
| T6 | 505-507 | DiseaseOrPhenotypicFeature | denotes | GS |
| T7 | 668-677 | GeneOrGeneProduct | denotes | NCCT gene |
| T8 | 930-949 | SequenceVariant | denotes | c.185C>T (Thr60Met) |
| T9 | 951-972 | SequenceVariant | denotes | c.1712C>T (Ala569Val) |
| T10 | 974-995 | SequenceVariant | denotes | c.1930C>T (Arg642Cys) |
| T11 | 997-1018 | SequenceVariant | denotes | c.2552T>A (Leu849His) |
| T12 | 1023-1033 | SequenceVariant | denotes | c.1932delC |
| T13 | 1155-1171 | SequenceVariant | denotes | c.7A>T (Met1Leu) |
| T14 | 1173-1192 | SequenceVariant | denotes | c.1181_1186+20del26 |
| T15 | 1194-1210 | SequenceVariant | denotes | c.1811_1812delAT |
| T16 | 1215-1225 | SequenceVariant | denotes | IVS16+1G>A |
biored-valid-gemini-nr-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 28-72 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter gene |
| T2 | 76-84 | OrganismTaxon | denotes | Japanese |
| T3 | 99-118 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome |
| T4 | 153-155 | DiseaseOrPhenotypicFeature | denotes | GS |
| T5 | 237-276 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter |
| T6 | 278-282 | GeneOrGeneProduct | denotes | NCCT |
| T7 | 284-288 | GeneOrGeneProduct | denotes | gene |
| T8 | 463-467 | GeneOrGeneProduct | denotes | NCCT |
| T9 | 468-472 | GeneOrGeneProduct | denotes | gene |
| T10 | 482-490 | OrganismTaxon | denotes | Japanese |
| T11 | 505-507 | DiseaseOrPhenotypicFeature | denotes | GS |
| T12 | 586-588 | DiseaseOrPhenotypicFeature | denotes | GS |
| T13 | 930-949 | SequenceVariant | denotes | c.185C>T (Thr60Met) |
| T14 | 951-972 | SequenceVariant | denotes | c.1712C>T (Ala569Val) |
| T15 | 974-995 | SequenceVariant | denotes | c.1930C>T (Arg642Cys) |
| T16 | 997-1018 | SequenceVariant | denotes | c.2552T>A (Leu849His) |
| T17 | 1023-1033 | SequenceVariant | denotes | c.1932delC |
| T18 | 1057-1065 | OrganismTaxon | denotes | Japanese |
| T19 | 1087-1089 | DiseaseOrPhenotypicFeature | denotes | GS |
| T20 | 1155-1171 | SequenceVariant | denotes | c.7A>T (Met1Leu) |
| T21 | 1173-1192 | SequenceVariant | denotes | c.1181_1186+20del26 |
| T22 | 1194-1210 | SequenceVariant | denotes | c.1811_1812delAT |
| T23 | 1215-1225 | SequenceVariant | denotes | IVS16+1G>A |
| T24 | 1655-1659 | GeneOrGeneProduct | denotes | NCCT |
| T25 | 1660-1664 | GeneOrGeneProduct | denotes | gene |
| T26 | 1674-1682 | OrganismTaxon | denotes | Japanese |
biored-valid-gemini-r-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 28-72 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter gene |
| T2 | 76-84 | OrganismTaxon | denotes | Japanese |
| T3 | 99-118 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome |
| T4 | 132-156 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome (GS) |
| T5 | 237-288 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter (NCCT) gene |
| T6 | 463-472 | GeneOrGeneProduct | denotes | NCCT gene |
| T7 | 482-490 | OrganismTaxon | denotes | Japanese |
| T8 | 505-507 | DiseaseOrPhenotypicFeature | denotes | GS |
| T9 | 586-588 | DiseaseOrPhenotypicFeature | denotes | GS |
| T10 | 930-949 | SequenceVariant | denotes | c.185C>T (Thr60Met) |
| T11 | 951-972 | SequenceVariant | denotes | c.1712C>T (Ala569Val) |
| T12 | 974-995 | SequenceVariant | denotes | c.1930C>T (Arg642Cys) |
| T13 | 997-1018 | SequenceVariant | denotes | c.2552T>A (Leu849His) |
| T14 | 1023-1033 | SequenceVariant | denotes | c.1932delC |
| T15 | 1057-1065 | OrganismTaxon | denotes | Japanese |
| T16 | 1087-1089 | DiseaseOrPhenotypicFeature | denotes | GS |
| T17 | 1155-1171 | SequenceVariant | denotes | c.7A>T (Met1Leu) |
| T18 | 1173-1192 | SequenceVariant | denotes | c.1181_1186+20del26 |
| T19 | 1194-1210 | SequenceVariant | denotes | c.1811_1812delAT |
| T20 | 1215-1225 | SequenceVariant | denotes | IVS16+1G>A |
| T21 | 1655-1664 | GeneOrGeneProduct | denotes | NCCT gene |
| T22 | 1674-1682 | OrganismTaxon | denotes | Japanese |
| T23 | 1697-1699 | DiseaseOrPhenotypicFeature | denotes | GS |
biored-valid-gemini-r-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 28-72 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter gene |
| T2 | 99-118 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome |
| T3 | 132-156 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome (GS) |
| T4 | 237-288 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter (NCCT) gene |
| T5 | 463-472 | GeneOrGeneProduct | denotes | NCCT gene |
| T6 | 505-507 | DiseaseOrPhenotypicFeature | denotes | GS |
| T7 | 930-949 | SequenceVariant | denotes | c.185C>T (Thr60Met) |
| T8 | 951-972 | SequenceVariant | denotes | c.1712C>T (Ala569Val) |
| T9 | 974-995 | SequenceVariant | denotes | c.1930C>T (Arg642Cys) |
| T10 | 997-1018 | SequenceVariant | denotes | c.2552T>A (Leu849His) |
| T11 | 1023-1033 | SequenceVariant | denotes | c.1932delC |
| T12 | 1087-1089 | DiseaseOrPhenotypicFeature | denotes | GS |
| T13 | 1155-1171 | SequenceVariant | denotes | c.7A>T (Met1Leu) |
| T14 | 1173-1192 | SequenceVariant | denotes | c.1181_1186+20del26 |
| T15 | 1194-1210 | SequenceVariant | denotes | c.1811_1812delAT |
| T16 | 1215-1225 | SequenceVariant | denotes | IVS16+1G>A |
| T17 | 1655-1664 | GeneOrGeneProduct | denotes | NCCT gene |
| T18 | 1697-1699 | DiseaseOrPhenotypicFeature | denotes | GS |
biored-valid-gpt-nr-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 28-72 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter gene |
| T2 | 99-118 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome |
| T3 | 153-155 | DiseaseOrPhenotypicFeature | denotes | GS |
| T4 | 237-276 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter |
| T5 | 278-282 | GeneOrGeneProduct | denotes | NCCT |
| T6 | 463-472 | GeneOrGeneProduct | denotes | NCCT gene |
| T7 | 505-507 | DiseaseOrPhenotypicFeature | denotes | GS |
| T8 | 586-588 | DiseaseOrPhenotypicFeature | denotes | GS |
| T9 | 773-776 | ChemicalEntity | denotes | DNA |
| T10 | 853-857 | ChemicalEntity | denotes | cDNA |
| T11 | 930-938 | SequenceVariant | denotes | c.185C>T |
| T12 | 940-948 | SequenceVariant | denotes | Thr60Met |
| T13 | 951-960 | SequenceVariant | denotes | c.1712C>T |
| T14 | 962-971 | SequenceVariant | denotes | Ala569Val |
| T15 | 974-983 | SequenceVariant | denotes | c.1930C>T |
| T16 | 985-994 | SequenceVariant | denotes | Arg642Cys |
| T17 | 997-1006 | SequenceVariant | denotes | c.2552T>A |
| T18 | 1008-1017 | SequenceVariant | denotes | Leu849His |
| T19 | 1023-1033 | SequenceVariant | denotes | c.1932delC |
| T20 | 1087-1089 | DiseaseOrPhenotypicFeature | denotes | GS |
| T21 | 1155-1161 | SequenceVariant | denotes | c.7A>T |
| T22 | 1163-1170 | SequenceVariant | denotes | Met1Leu |
| T23 | 1173-1192 | SequenceVariant | denotes | c.1181_1186+20del26 |
| T24 | 1194-1210 | SequenceVariant | denotes | c.1811_1812delAT |
| T25 | 1215-1225 | SequenceVariant | denotes | IVS16+1G>A |
| T26 | 1242-1246 | ChemicalEntity | denotes | cDNA |
| T27 | 1275-1294 | SequenceVariant | denotes | c.1181_1186+20del26 |
| T28 | 1298-1316 | SequenceVariant | denotes | deletion of exon 9 |
| T29 | 1323-1357 | SequenceVariant | denotes | frameshift at the start of exon 10 |
| T30 | 1376-1380 | ChemicalEntity | denotes | cDNA |
| T31 | 1408-1418 | SequenceVariant | denotes | IVS16+1G>A |
| T32 | 1434-1449 | SequenceVariant | denotes | 96 bp insertion |
| T33 | 1655-1664 | GeneOrGeneProduct | denotes | NCCT gene |
| T34 | 1697-1699 | DiseaseOrPhenotypicFeature | denotes | GS |
| T35 | 1772-1781 | GeneOrGeneProduct | denotes | NCCT gene |
| T36 | 1794-1796 | DiseaseOrPhenotypicFeature | denotes | GS |
biored-valid-gpt-r-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 28-72 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter gene |
| T2 | 99-118 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome |
| T3 | 153-155 | DiseaseOrPhenotypicFeature | denotes | GS |
| T4 | 237-288 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter (NCCT) gene |
| T5 | 463-472 | GeneOrGeneProduct | denotes | NCCT gene |
| T6 | 505-507 | DiseaseOrPhenotypicFeature | denotes | GS |
| T7 | 586-588 | DiseaseOrPhenotypicFeature | denotes | GS |
| T8 | 668-677 | GeneOrGeneProduct | denotes | NCCT gene |
| T9 | 806-814 | SequenceVariant | denotes | deletion |
| T10 | 818-838 | SequenceVariant | denotes | splice site mutation |
| T11 | 930-949 | SequenceVariant | denotes | c.185C>T (Thr60Met) |
| T12 | 951-972 | SequenceVariant | denotes | c.1712C>T (Ala569Val) |
| T13 | 974-995 | SequenceVariant | denotes | c.1930C>T (Arg642Cys) |
| T14 | 997-1018 | SequenceVariant | denotes | c.2552T>A (Leu849His) |
| T15 | 1023-1033 | SequenceVariant | denotes | c.1932delC |
| T16 | 1087-1089 | DiseaseOrPhenotypicFeature | denotes | GS |
| T17 | 1155-1171 | SequenceVariant | denotes | c.7A>T (Met1Leu) |
| T18 | 1173-1192 | SequenceVariant | denotes | c.1181_1186+20del26 |
| T19 | 1194-1210 | SequenceVariant | denotes | c.1811_1812delAT |
| T20 | 1215-1225 | SequenceVariant | denotes | IVS16+1G>A |
| T21 | 1275-1294 | SequenceVariant | denotes | c.1181_1186+20del26 |
| T22 | 1298-1316 | SequenceVariant | denotes | deletion of exon 9 |
| T23 | 1323-1357 | SequenceVariant | denotes | frameshift at the start of exon 10 |
| T24 | 1408-1418 | SequenceVariant | denotes | IVS16+1G>A |
| T25 | 1434-1473 | SequenceVariant | denotes | 96 bp insertion between exons 16 and 17 |
| T26 | 1655-1664 | GeneOrGeneProduct | denotes | NCCT gene |
| T27 | 1697-1699 | DiseaseOrPhenotypicFeature | denotes | GS |
| T28 | 1772-1781 | GeneOrGeneProduct | denotes | NCCT gene |
| T29 | 1794-1796 | DiseaseOrPhenotypicFeature | denotes | GS |
biored-valid-gpt-nr-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 28-67 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter |
| T2 | 99-118 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome |
| T3 | 153-155 | DiseaseOrPhenotypicFeature | denotes | GS |
| T4 | 237-283 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter (NCCT) |
biored-valid-gpt-r-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 28-72 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter gene |
| T2 | 76-84 | OrganismTaxon | denotes | Japanese |
| T3 | 99-118 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome |
| T4 | 153-155 | DiseaseOrPhenotypicFeature | denotes | GS |
| T5 | 163-191 | DiseaseOrPhenotypicFeature | denotes | autosomal recessive disorder |
| T6 | 237-288 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter (NCCT) gene |
| T7 | 463-472 | GeneOrGeneProduct | denotes | NCCT gene |
| T8 | 482-490 | OrganismTaxon | denotes | Japanese |
| T9 | 505-507 | DiseaseOrPhenotypicFeature | denotes | GS |
| T10 | 586-588 | DiseaseOrPhenotypicFeature | denotes | GS |
| T11 | 668-677 | GeneOrGeneProduct | denotes | NCCT gene |
| T12 | 773-776 | ChemicalEntity | denotes | DNA |
| T13 | 853-857 | ChemicalEntity | denotes | cDNA |
| T14 | 930-949 | SequenceVariant | denotes | c.185C>T (Thr60Met) |
| T15 | 951-972 | SequenceVariant | denotes | c.1712C>T (Ala569Val) |
| T16 | 974-995 | SequenceVariant | denotes | c.1930C>T (Arg642Cys) |
| T17 | 997-1018 | SequenceVariant | denotes | c.2552T>A (Leu849His) |
| T18 | 1023-1033 | SequenceVariant | denotes | c.1932delC |
| T19 | 1057-1065 | OrganismTaxon | denotes | Japanese |
| T20 | 1087-1089 | DiseaseOrPhenotypicFeature | denotes | GS |
| T21 | 1155-1171 | SequenceVariant | denotes | c.7A>T (Met1Leu) |
| T22 | 1173-1192 | SequenceVariant | denotes | c.1181_1186+20del26 |
| T23 | 1194-1210 | SequenceVariant | denotes | c.1811_1812delAT |
| T24 | 1215-1225 | SequenceVariant | denotes | IVS16+1G>A |
| T25 | 1242-1246 | ChemicalEntity | denotes | cDNA |
| T26 | 1275-1294 | SequenceVariant | denotes | c.1181_1186+20del26 |
| T27 | 1376-1380 | ChemicalEntity | denotes | cDNA |
| T28 | 1408-1418 | SequenceVariant | denotes | IVS16+1G>A |
| T29 | 1655-1664 | GeneOrGeneProduct | denotes | NCCT gene |
| T30 | 1674-1682 | OrganismTaxon | denotes | Japanese |
| T31 | 1697-1699 | DiseaseOrPhenotypicFeature | denotes | GS |
| T32 | 1772-1781 | GeneOrGeneProduct | denotes | NCCT gene |
| T33 | 1785-1793 | OrganismTaxon | denotes | Japanese |
| T34 | 1794-1796 | DiseaseOrPhenotypicFeature | denotes | GS |
biored-valid-gemini-nr-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 28-67 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter |
| T2 | 68-72 | GeneOrGeneProduct | denotes | gene |
| T3 | 76-84 | OrganismTaxon | denotes | Japanese |
| T4 | 99-118 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome |
| T5 | 153-155 | DiseaseOrPhenotypicFeature | denotes | GS |
| T6 | 163-191 | DiseaseOrPhenotypicFeature | denotes | autosomal recessive disorder |
| T7 | 237-276 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter |
| T8 | 278-282 | GeneOrGeneProduct | denotes | NCCT |
| T9 | 284-288 | GeneOrGeneProduct | denotes | gene |
| T10 | 463-467 | GeneOrGeneProduct | denotes | NCCT |
| T11 | 468-472 | GeneOrGeneProduct | denotes | gene |
| T12 | 482-490 | OrganismTaxon | denotes | Japanese |
| T13 | 505-507 | DiseaseOrPhenotypicFeature | denotes | GS |
| T14 | 930-949 | SequenceVariant | denotes | c.185C>T (Thr60Met) |
| T15 | 951-972 | SequenceVariant | denotes | c.1712C>T (Ala569Val) |
| T16 | 974-995 | SequenceVariant | denotes | c.1930C>T (Arg642Cys) |
| T17 | 997-1018 | SequenceVariant | denotes | c.2552T>A (Leu849His) |
| T18 | 1023-1033 | SequenceVariant | denotes | c.1932delC |
| T19 | 1057-1065 | OrganismTaxon | denotes | Japanese |
| T20 | 1087-1089 | DiseaseOrPhenotypicFeature | denotes | GS |
| T21 | 1155-1171 | SequenceVariant | denotes | c.7A>T (Met1Leu) |
| T22 | 1173-1192 | SequenceVariant | denotes | c.1181_1186+20del26 |
| T23 | 1194-1210 | SequenceVariant | denotes | c.1811_1812delAT |
| T24 | 1215-1225 | SequenceVariant | denotes | IVS16+1G>A |
| T25 | 1655-1659 | GeneOrGeneProduct | denotes | NCCT |
| T26 | 1660-1664 | GeneOrGeneProduct | denotes | gene |
| T27 | 1674-1682 | OrganismTaxon | denotes | Japanese |
| T28 | 1697-1699 | DiseaseOrPhenotypicFeature | denotes | GS |
biored-valid-gpt-r-m
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 28-67 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter |
| T2 | 85-93 | OrganismTaxon | denotes | patients |
| T3 | 99-118 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome |
| T4 | 153-155 | DiseaseOrPhenotypicFeature | denotes | GS |
| T5 | 237-276 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter |
| T6 | 278-282 | GeneOrGeneProduct | denotes | NCCT |
| T7 | 463-467 | GeneOrGeneProduct | denotes | NCCT |
| T8 | 491-499 | OrganismTaxon | denotes | patients |
| T9 | 505-507 | DiseaseOrPhenotypicFeature | denotes | GS |
| T10 | 572-580 | OrganismTaxon | denotes | patients |
| T11 | 586-588 | DiseaseOrPhenotypicFeature | denotes | GS |
| T12 | 596-610 | OrganismTaxon | denotes | family members |
| T13 | 623-639 | OrganismTaxon | denotes | control subjects |
| T14 | 668-672 | GeneOrGeneProduct | denotes | NCCT |
| T15 | 790-798 | OrganismTaxon | denotes | patients |
| T16 | 930-938 | SequenceVariant | denotes | c.185C>T |
| T17 | 940-948 | SequenceVariant | denotes | Thr60Met |
| T18 | 951-960 | SequenceVariant | denotes | c.1712C>T |
| T19 | 962-971 | SequenceVariant | denotes | Ala569Val |
| T20 | 974-983 | SequenceVariant | denotes | c.1930C>T |
| T21 | 985-994 | SequenceVariant | denotes | Arg642Cys |
| T22 | 997-1006 | SequenceVariant | denotes | c.2552T>A |
| T23 | 1008-1017 | SequenceVariant | denotes | Leu849His |
| T24 | 1023-1033 | SequenceVariant | denotes | c.1932delC |
| T25 | 1066-1074 | OrganismTaxon | denotes | patients |
| T26 | 1087-1089 | DiseaseOrPhenotypicFeature | denotes | GS |
| T27 | 1155-1161 | SequenceVariant | denotes | c.7A>T |
| T28 | 1163-1170 | SequenceVariant | denotes | Met1Leu |
| T29 | 1173-1192 | SequenceVariant | denotes | c.1181_1186+20del26 |
| T30 | 1194-1210 | SequenceVariant | denotes | c.1811_1812delAT |
| T31 | 1215-1225 | SequenceVariant | denotes | IVS16+1G>A |
| T32 | 1262-1269 | OrganismTaxon | denotes | patient |
| T33 | 1275-1294 | SequenceVariant | denotes | c.1181_1186+20del26 |
| T34 | 1298-1316 | SequenceVariant | denotes | deletion of exon 9 |
| T35 | 1323-1357 | SequenceVariant | denotes | frameshift at the start of exon 10 |
| T36 | 1394-1402 | OrganismTaxon | denotes | patients |
| T37 | 1408-1418 | SequenceVariant | denotes | IVS16+1G>A |
| T38 | 1434-1449 | SequenceVariant | denotes | 96 bp insertion |
| T39 | 1505-1513 | OrganismTaxon | denotes | patients |
| T40 | 1655-1659 | GeneOrGeneProduct | denotes | NCCT |
| T41 | 1683-1691 | OrganismTaxon | denotes | patients |
| T42 | 1697-1699 | DiseaseOrPhenotypicFeature | denotes | GS |
| T43 | 1772-1776 | GeneOrGeneProduct | denotes | NCCT |
| T44 | 1794-1796 | DiseaseOrPhenotypicFeature | denotes | GS |
| T45 | 1797-1805 | OrganismTaxon | denotes | patients |
biored-valid-gemini-r-m
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 28-67 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter |
| T2 | 76-84 | OrganismTaxon | denotes | Japanese |
| T3 | 85-93 | OrganismTaxon | denotes | patients |
| T4 | 99-118 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome |
| T5 | 132-156 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome (GS) |
| T6 | 237-283 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter (NCCT) |
| T7 | 463-467 | GeneOrGeneProduct | denotes | NCCT |
| T8 | 482-490 | OrganismTaxon | denotes | Japanese |
| T9 | 491-499 | OrganismTaxon | denotes | patients |
| T10 | 505-507 | DiseaseOrPhenotypicFeature | denotes | GS |
| T11 | 572-580 | OrganismTaxon | denotes | patients |
| T12 | 590-610 | OrganismTaxon | denotes | their family members |
| T13 | 615-639 | OrganismTaxon | denotes | healthy control subjects |
| T14 | 668-672 | GeneOrGeneProduct | denotes | NCCT |
| T15 | 790-798 | OrganismTaxon | denotes | patients |
| T16 | 930-949 | SequenceVariant | denotes | c.185C>T (Thr60Met) |
| T17 | 951-972 | SequenceVariant | denotes | c.1712C>T (Ala569Val) |
| T18 | 974-995 | SequenceVariant | denotes | c.1930C>T (Arg642Cys) |
| T19 | 997-1018 | SequenceVariant | denotes | c.2552T>A (Leu849His) |
| T20 | 1023-1033 | SequenceVariant | denotes | c.1932delC |
| T21 | 1057-1065 | OrganismTaxon | denotes | Japanese |
| T22 | 1066-1074 | OrganismTaxon | denotes | patients |
| T23 | 1087-1089 | DiseaseOrPhenotypicFeature | denotes | GS |
| T24 | 1090-1098 | OrganismTaxon | denotes | patients |
| T25 | 1155-1171 | SequenceVariant | denotes | c.7A>T (Met1Leu) |
| T26 | 1173-1192 | SequenceVariant | denotes | c.1181_1186+20del26 |
| T27 | 1194-1210 | SequenceVariant | denotes | c.1811_1812delAT |
| T28 | 1215-1225 | SequenceVariant | denotes | IVS16+1G>A |
| T29 | 1394-1402 | OrganismTaxon | denotes | patients |
| T30 | 1505-1513 | OrganismTaxon | denotes | patients |
| T31 | 1655-1659 | GeneOrGeneProduct | denotes | NCCT |
| T32 | 1674-1682 | OrganismTaxon | denotes | Japanese |
| T33 | 1697-1699 | DiseaseOrPhenotypicFeature | denotes | GS |
biored-valid-deepseek-r-m
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 28-72 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter gene |
| T2 | 99-118 | DiseaseOrPhenotypicFeature | denotes | Gitelman's syndrome |
| T3 | 153-155 | DiseaseOrPhenotypicFeature | denotes | GS |
| T4 | 237-276 | GeneOrGeneProduct | denotes | thiazide-sensitive Na-Cl co-transporter |
| T5 | 278-282 | GeneOrGeneProduct | denotes | NCCT |
| T6 | 463-472 | GeneOrGeneProduct | denotes | NCCT gene |
| T7 | 668-677 | GeneOrGeneProduct | denotes | NCCT gene |
| T8 | 930-938 | SequenceVariant | denotes | c.185C>T |
| T9 | 939-949 | SequenceVariant | denotes | (Thr60Met) |
| T10 | 951-960 | SequenceVariant | denotes | c.1712C>T |
| T11 | 961-972 | SequenceVariant | denotes | (Ala569Val) |
| T12 | 974-983 | SequenceVariant | denotes | c.1930C>T |
| T13 | 984-995 | SequenceVariant | denotes | (Arg642Cys) |
| T14 | 997-1006 | SequenceVariant | denotes | c.2552T>A |
| T15 | 1007-1018 | SequenceVariant | denotes | (Leu849His) |
| T16 | 1023-1033 | SequenceVariant | denotes | c.1932delC |
| T17 | 1155-1161 | SequenceVariant | denotes | c.7A>T |
| T18 | 1162-1171 | SequenceVariant | denotes | (Met1Leu) |
| T19 | 1173-1192 | SequenceVariant | denotes | c.1181_1186+20del26 |
| T20 | 1194-1210 | SequenceVariant | denotes | c.1811_1812delAT |
| T21 | 1215-1225 | SequenceVariant | denotes | IVS16+1G>A |