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LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-108 Sentence denotes Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD.
T2 109-290 Sentence denotes Homozygous or compound heterozygous mutations in renin (REN) cause renal tubular dysgenesis, which is characterized by death in utero due to kidney failure and pulmonary hypoplasia.
T3 291-435 Sentence denotes The phenotype resembles the fetopathy caused by angiotensin-converting enzyme inhibitor or angiotensin receptor blocker intake during pregnancy.
T4 436-565 Sentence denotes Recently, heterozygous REN mutations were shown to result in early-onset hyperuricemia, anemia, and chronic kidney disease (CKD).
T5 566-639 Sentence denotes To date, only 3 different heterozygous REN mutations have been published.
T6 640-843 Sentence denotes We report mutation analysis of the REN gene in 39 kindreds with hyperuricemia and CKD who previously tested negative for mutations in the UMOD (uromodulin) and HNF1B (hepatocyte nuclear factor 1β) genes.
T7 844-1092 Sentence denotes We identified one kindred with a novel thymidine to cytosine mutation at position 28 in the REN complementary DNA, corresponding to a tryptophan to arginine substitution at amino acid 10, which is found within the signal sequence (c.28T>C; p.W10R).
T8 1093-1176 Sentence denotes On this basis, we conclude that REN mutations are rare events in patients with CKD.
T9 1177-1350 Sentence denotes Within the kindred, we found affected individuals over 4 generations who carried the novel REN mutation and were characterized by significant anemia, hyperuricemia, and CKD.
T10 1351-1432 Sentence denotes Anemia was severe and disproportional to the degree of decreased kidney function.
T11 1433-1691 Sentence denotes Because all heterozygous REN mutations that have been described are localized in the signal sequence, screening of the REN gene for patients with CKD with hyperuricemia and anemia may best be focused on sequencing of exon 1, which encodes the signal peptide.

LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 77-83 OrganismTaxon denotes anemia NCBItxid:12939
T2 524-530 OrganismTaxon denotes anemia NCBItxid:12939
T3 1319-1325 OrganismTaxon denotes anemia NCBItxid:12939
T4 1351-1357 OrganismTaxon denotes Anemia NCBItxid:12939
T5 1606-1612 OrganismTaxon denotes anemia NCBItxid:12939

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
8851 53-58 GeneOrGeneProduct denotes renin NCBIGene:5972
8852 77-83 DiseaseOrPhenotypicFeature denotes anemia MESH:D000740
8853 85-98 DiseaseOrPhenotypicFeature denotes hyperuricemia MESH:D033461
8854 104-107 DiseaseOrPhenotypicFeature denotes CKD MESH:D051436
8855 158-163 GeneOrGeneProduct denotes renin NCBIGene:5972
8856 165-168 GeneOrGeneProduct denotes REN NCBIGene:5972
8857 176-200 DiseaseOrPhenotypicFeature denotes renal tubular dysgenesis MESH:C537048
8858 228-233 DiseaseOrPhenotypicFeature denotes death MESH:D003643
8859 250-264 DiseaseOrPhenotypicFeature denotes kidney failure MESH:D051437
8860 269-289 DiseaseOrPhenotypicFeature denotes pulmonary hypoplasia MESH:D008171
8861 319-328 DiseaseOrPhenotypicFeature denotes fetopathy MESH:C576203
8862 339-378 ChemicalEntity denotes angiotensin-converting enzyme inhibitor MESH:D000806
8863 382-410 ChemicalEntity denotes angiotensin receptor blocker MESH:D057911
8864 459-462 GeneOrGeneProduct denotes REN NCBIGene:5972
8865 509-522 DiseaseOrPhenotypicFeature denotes hyperuricemia MESH:D033461
8866 524-530 DiseaseOrPhenotypicFeature denotes anemia MESH:D000740
8867 536-558 DiseaseOrPhenotypicFeature denotes chronic kidney disease MESH:D051436
8868 560-563 DiseaseOrPhenotypicFeature denotes CKD MESH:D051436
8869 605-608 GeneOrGeneProduct denotes REN NCBIGene:5972
8870 675-678 GeneOrGeneProduct denotes REN NCBIGene:5972
8871 704-717 DiseaseOrPhenotypicFeature denotes hyperuricemia MESH:D033461
8872 722-725 DiseaseOrPhenotypicFeature denotes CKD MESH:D051436
8873 778-782 GeneOrGeneProduct denotes UMOD NCBIGene:7369
8874 784-794 GeneOrGeneProduct denotes uromodulin NCBIGene:7369
8875 800-805 GeneOrGeneProduct denotes HNF1B NCBIGene:6928
8876 807-835 GeneOrGeneProduct denotes hepatocyte nuclear factor 1β NCBIGene:6928
8877 883-928 SequenceVariant denotes thymidine to cytosine mutation at position 28 c|SUB|T|28|C
8878 936-939 GeneOrGeneProduct denotes REN NCBIGene:5972
8879 978-1030 SequenceVariant denotes tryptophan to arginine substitution at amino acid 10 p|SUB|W|10|R
8880 1075-1082 SequenceVariant denotes c.28T>C c|SUB|T|28|C
8881 1084-1090 SequenceVariant denotes p.W10R p|SUB|W|10|R
8882 1125-1128 GeneOrGeneProduct denotes REN NCBIGene:5972
8883 1158-1166 OrganismTaxon denotes patients NCBITaxon:9606
8884 1172-1175 DiseaseOrPhenotypicFeature denotes CKD MESH:D051436
8885 1268-1271 GeneOrGeneProduct denotes REN NCBIGene:5972
8886 1319-1325 DiseaseOrPhenotypicFeature denotes anemia MESH:D000740
8887 1327-1340 DiseaseOrPhenotypicFeature denotes hyperuricemia MESH:D033461
8888 1346-1349 DiseaseOrPhenotypicFeature denotes CKD MESH:D051436
8889 1351-1357 DiseaseOrPhenotypicFeature denotes Anemia MESH:D000740
8890 1458-1461 GeneOrGeneProduct denotes REN NCBIGene:5972
8891 1552-1555 GeneOrGeneProduct denotes REN NCBIGene:5972
8892 1565-1573 OrganismTaxon denotes patients NCBITaxon:9606
8893 1579-1582 DiseaseOrPhenotypicFeature denotes CKD MESH:D051436
8894 1588-1601 DiseaseOrPhenotypicFeature denotes hyperuricemia MESH:D033461
8895 1606-1612 DiseaseOrPhenotypicFeature denotes anemia MESH:D000740

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 1075-1082 SequenceVariant denotes c.28T>C
T2 1084-1090 SequenceVariant denotes p.W10R

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 77-83 DiseaseOrPhenotypicFeature denotes anemia 0002280
T2 176-200 DiseaseOrPhenotypicFeature denotes renal tubular dysgenesis 0017609
T3 250-264 DiseaseOrPhenotypicFeature denotes kidney failure 0001106
T4 524-530 DiseaseOrPhenotypicFeature denotes anemia 0002280
T5 536-558 DiseaseOrPhenotypicFeature denotes chronic kidney disease 0005300
T6 544-558 DiseaseOrPhenotypicFeature denotes kidney disease 0005240
T7 1143-1147 DiseaseOrPhenotypicFeature denotes rare 0021136
T8 1319-1325 DiseaseOrPhenotypicFeature denotes anemia 0002280
T9 1351-1357 DiseaseOrPhenotypicFeature denotes Anemia 0002280
T10 1606-1612 DiseaseOrPhenotypicFeature denotes anemia 0002280

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 19-27 GeneOrGeneProduct denotes mutation
T2 35-49 GeneOrGeneProduct denotes signal peptide
T3 53-58 GeneOrGeneProduct denotes renin
T4 145-154 GeneOrGeneProduct denotes mutations
T5 158-163 GeneOrGeneProduct denotes renin
T6 165-168 GeneOrGeneProduct denotes REN
T19 675-678 GeneOrGeneProduct denotes REN
T7 250-256 GeneOrGeneProduct denotes kidney
T8 339-368 GeneOrGeneProduct denotes angiotensin-converting enzyme
T9 369-378 GeneOrGeneProduct denotes inhibitor
T10 382-402 GeneOrGeneProduct denotes angiotensin receptor
T11 403-410 GeneOrGeneProduct denotes blocker
T12 459-462 GeneOrGeneProduct denotes REN
T13 463-472 GeneOrGeneProduct denotes mutations
T14 497-502 GeneOrGeneProduct denotes early
T15 544-550 GeneOrGeneProduct denotes kidney
T16 605-608 GeneOrGeneProduct denotes REN
T17 609-618 GeneOrGeneProduct denotes mutations
T18 650-658 GeneOrGeneProduct denotes mutation
T20 679-689 GeneOrGeneProduct denotes gene in 39
T21 741-747 GeneOrGeneProduct denotes tested
T22 761-770 GeneOrGeneProduct denotes mutations
T23 778-782 GeneOrGeneProduct denotes UMOD
T25 800-805 GeneOrGeneProduct denotes HNF1B
T24 784-794 GeneOrGeneProduct denotes uromodulin
T26 807-834 GeneOrGeneProduct denotes hepatocyte nuclear factor 1
T27 877-882 GeneOrGeneProduct denotes novel
T28 905-913 GeneOrGeneProduct denotes mutation
T29 926-931 GeneOrGeneProduct denotes 28 in
T30 936-939 GeneOrGeneProduct denotes REN
T31 1017-1027 GeneOrGeneProduct denotes amino acid
T32 1101-1106 GeneOrGeneProduct denotes basis
T33 1125-1128 GeneOrGeneProduct denotes REN
T34 1129-1138 GeneOrGeneProduct denotes mutations
T35 1143-1147 GeneOrGeneProduct denotes rare
T36 1262-1267 GeneOrGeneProduct denotes novel
T37 1268-1271 GeneOrGeneProduct denotes REN
T38 1272-1280 GeneOrGeneProduct denotes mutation
T39 1416-1422 GeneOrGeneProduct denotes kidney
T40 1441-1444 GeneOrGeneProduct denotes all
T41 1458-1461 GeneOrGeneProduct denotes REN
T42 1462-1476 GeneOrGeneProduct denotes mutations that
T43 1552-1555 GeneOrGeneProduct denotes REN
T44 1617-1621 GeneOrGeneProduct denotes best
T45 1676-1690 GeneOrGeneProduct denotes signal peptide

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 35-49 GeneOrGeneProduct denotes signal peptide
T2 53-58 GeneOrGeneProduct denotes renin
T3 158-163 GeneOrGeneProduct denotes renin
T4 165-168 GeneOrGeneProduct denotes REN
T5 250-256 GeneOrGeneProduct denotes kidney
T6 339-368 GeneOrGeneProduct denotes angiotensin-converting enzyme
T7 369-378 GeneOrGeneProduct denotes inhibitor
T8 382-402 GeneOrGeneProduct denotes angiotensin receptor
T9 403-410 GeneOrGeneProduct denotes blocker
T10 459-462 GeneOrGeneProduct denotes REN
T11 497-502 GeneOrGeneProduct denotes early
T12 544-550 GeneOrGeneProduct denotes kidney
T13 605-608 GeneOrGeneProduct denotes REN
T14 675-678 GeneOrGeneProduct denotes REN
T15 778-782 GeneOrGeneProduct denotes UMOD
T16 784-794 GeneOrGeneProduct denotes uromodulin
T17 800-805 GeneOrGeneProduct denotes HNF1B
T18 807-834 GeneOrGeneProduct denotes hepatocyte nuclear factor 1
T19 877-882 GeneOrGeneProduct denotes novel
T20 936-939 GeneOrGeneProduct denotes REN
T21 1017-1027 GeneOrGeneProduct denotes amino acid
T22 1125-1128 GeneOrGeneProduct denotes REN
T23 1143-1147 GeneOrGeneProduct denotes rare
T24 1262-1267 GeneOrGeneProduct denotes novel
T25 1268-1271 GeneOrGeneProduct denotes REN
T26 1416-1422 GeneOrGeneProduct denotes kidney
T27 1458-1461 GeneOrGeneProduct denotes REN
T28 1552-1555 GeneOrGeneProduct denotes REN
T29 1617-1621 GeneOrGeneProduct denotes best
T30 1676-1690 GeneOrGeneProduct denotes signal peptide

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 77-83 DiseaseOrPhenotypicFeature denotes anemia D000740
T2 85-98 DiseaseOrPhenotypicFeature denotes hyperuricemia D033461
T3 104-107 DiseaseOrPhenotypicFeature denotes CKD D051436
T4 176-200 DiseaseOrPhenotypicFeature denotes renal tubular dysgenesis C537048
T5 228-233 DiseaseOrPhenotypicFeature denotes death D003643
T6 250-264 DiseaseOrPhenotypicFeature denotes kidney failure D051437
T7 509-522 DiseaseOrPhenotypicFeature denotes hyperuricemia D033461
T8 524-530 DiseaseOrPhenotypicFeature denotes anemia D000740
T9 536-558 DiseaseOrPhenotypicFeature denotes chronic kidney disease D051436
T10 560-563 DiseaseOrPhenotypicFeature denotes CKD D051436
T11 704-717 DiseaseOrPhenotypicFeature denotes hyperuricemia D033461
T12 722-725 DiseaseOrPhenotypicFeature denotes CKD D051436
T13 1172-1175 DiseaseOrPhenotypicFeature denotes CKD D051436
T14 1319-1325 DiseaseOrPhenotypicFeature denotes anemia D000740
T15 1327-1340 DiseaseOrPhenotypicFeature denotes hyperuricemia D033461
T16 1346-1349 DiseaseOrPhenotypicFeature denotes CKD D051436
T17 1351-1357 DiseaseOrPhenotypicFeature denotes Anemia D000740
T18 1579-1582 DiseaseOrPhenotypicFeature denotes CKD D051436
T19 1588-1601 DiseaseOrPhenotypicFeature denotes hyperuricemia D033461
T20 1606-1612 DiseaseOrPhenotypicFeature denotes anemia D000740

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 35-49 GeneOrGeneProduct denotes signal peptide
T2 53-58 GeneOrGeneProduct denotes renin
T3 158-163 GeneOrGeneProduct denotes renin
T4 165-168 GeneOrGeneProduct denotes REN
T5 382-402 GeneOrGeneProduct denotes angiotensin receptor
T6 459-462 GeneOrGeneProduct denotes REN
T7 605-608 GeneOrGeneProduct denotes REN
T8 675-678 GeneOrGeneProduct denotes REN
T9 778-782 GeneOrGeneProduct denotes UMOD
T10 784-794 GeneOrGeneProduct denotes uromodulin
T11 800-805 GeneOrGeneProduct denotes HNF1B
T12 807-834 GeneOrGeneProduct denotes hepatocyte nuclear factor 1
T13 936-939 GeneOrGeneProduct denotes REN
T14 1125-1128 GeneOrGeneProduct denotes REN
T15 1268-1271 GeneOrGeneProduct denotes REN
T16 1458-1461 GeneOrGeneProduct denotes REN
T17 1552-1555 GeneOrGeneProduct denotes REN
T18 1676-1690 GeneOrGeneProduct denotes signal peptide

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 77-83 DiseaseOrPhenotypicFeature denotes anemia 0002280
T2 104-107 DiseaseOrPhenotypicFeature denotes CKD 0005300
T3 176-200 DiseaseOrPhenotypicFeature denotes renal tubular dysgenesis 0017609|0009970
T5 250-264 DiseaseOrPhenotypicFeature denotes kidney failure 0001106
T6 524-530 DiseaseOrPhenotypicFeature denotes anemia 0002280
T7 536-558 DiseaseOrPhenotypicFeature denotes chronic kidney disease 0005300
T8 560-563 DiseaseOrPhenotypicFeature denotes CKD 0005300
T9 722-725 DiseaseOrPhenotypicFeature denotes CKD 0005300
T10 1172-1175 DiseaseOrPhenotypicFeature denotes CKD 0005300
T11 1319-1325 DiseaseOrPhenotypicFeature denotes anemia 0002280
T12 1346-1349 DiseaseOrPhenotypicFeature denotes CKD 0005300
T13 1579-1582 DiseaseOrPhenotypicFeature denotes CKD 0005300
T14 1606-1612 DiseaseOrPhenotypicFeature denotes anemia 0002280

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 77-83 DiseaseOrPhenotypicFeature denotes anemia D000740
T2 85-98 DiseaseOrPhenotypicFeature denotes hyperuricemia D033461
T3 104-107 DiseaseOrPhenotypicFeature denotes CKD D051436
T4 176-200 DiseaseOrPhenotypicFeature denotes renal tubular dysgenesis C537048
T5 228-233 DiseaseOrPhenotypicFeature denotes death D003643
T6 250-264 DiseaseOrPhenotypicFeature denotes kidney failure D051437
T7 269-289 DiseaseOrPhenotypicFeature denotes pulmonary hypoplasia DISEASE
T8 319-328 DiseaseOrPhenotypicFeature denotes fetopathy DISEASE
T9 509-522 DiseaseOrPhenotypicFeature denotes hyperuricemia D033461
T10 524-530 DiseaseOrPhenotypicFeature denotes anemia D000740
T11 536-558 DiseaseOrPhenotypicFeature denotes chronic kidney disease D051436
T12 560-563 DiseaseOrPhenotypicFeature denotes CKD D051436
T13 704-717 DiseaseOrPhenotypicFeature denotes hyperuricemia D033461
T14 722-725 DiseaseOrPhenotypicFeature denotes CKD D051436
T15 1172-1175 DiseaseOrPhenotypicFeature denotes CKD D051436
T16 1319-1325 DiseaseOrPhenotypicFeature denotes anemia D000740
T17 1327-1340 DiseaseOrPhenotypicFeature denotes hyperuricemia D033461
T18 1346-1349 DiseaseOrPhenotypicFeature denotes CKD D051436
T19 1351-1357 DiseaseOrPhenotypicFeature denotes Anemia D000740
T20 1579-1582 DiseaseOrPhenotypicFeature denotes CKD D051436
T21 1588-1601 DiseaseOrPhenotypicFeature denotes hyperuricemia D033461
T22 1606-1612 DiseaseOrPhenotypicFeature denotes anemia D000740

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 77-83 DiseaseOrPhenotypicFeature denotes anemia D000740
T2 85-98 DiseaseOrPhenotypicFeature denotes hyperuricemia D033461
T3 104-107 DiseaseOrPhenotypicFeature denotes CKD D051436
T4 176-200 DiseaseOrPhenotypicFeature denotes renal tubular dysgenesis C537048
T5 250-264 DiseaseOrPhenotypicFeature denotes kidney failure D051437
T6 269-289 DiseaseOrPhenotypicFeature denotes pulmonary hypoplasia DISEASE
T7 319-328 DiseaseOrPhenotypicFeature denotes fetopathy DISEASE
T8 509-522 DiseaseOrPhenotypicFeature denotes hyperuricemia D033461
T9 524-530 DiseaseOrPhenotypicFeature denotes anemia D000740
T10 536-558 DiseaseOrPhenotypicFeature denotes chronic kidney disease D051436
T11 560-563 DiseaseOrPhenotypicFeature denotes CKD D051436
T12 704-717 DiseaseOrPhenotypicFeature denotes hyperuricemia D033461
T13 722-725 DiseaseOrPhenotypicFeature denotes CKD D051436
T14 1172-1175 DiseaseOrPhenotypicFeature denotes CKD D051436
T15 1319-1325 DiseaseOrPhenotypicFeature denotes anemia D000740
T16 1327-1340 DiseaseOrPhenotypicFeature denotes hyperuricemia D033461
T17 1346-1349 DiseaseOrPhenotypicFeature denotes CKD D051436
T18 1351-1357 DiseaseOrPhenotypicFeature denotes Anemia D000740
T19 1579-1582 DiseaseOrPhenotypicFeature denotes CKD D051436
T20 1588-1601 DiseaseOrPhenotypicFeature denotes hyperuricemia D033461
T21 1606-1612 DiseaseOrPhenotypicFeature denotes anemia D000740

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 1158-1166 OrganismTaxon denotes patients
T2 1565-1573 OrganismTaxon denotes patients

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 53-58 ChemicalEntity denotes renin D012083
T2 158-163 ChemicalEntity denotes renin D012083
T3 165-168 ChemicalEntity denotes REN D012083
T4 339-378 ChemicalEntity denotes angiotensin-converting enzyme inhibitor ChemicalEntity
T5 382-393 ChemicalEntity denotes angiotensin http://purl.obolibrary.org/obo/CHEBI_48433
T6 459-462 ChemicalEntity denotes REN D012083
T7 605-608 ChemicalEntity denotes REN D012083
T8 675-678 ChemicalEntity denotes REN D012083
T9 883-892 ChemicalEntity denotes thymidine http://purl.obolibrary.org/obo/CHEBI_17748
T10 896-904 ChemicalEntity denotes cytosine D003596|http://purl.obolibrary.org/obo/CHEBI_16040
T12 936-939 ChemicalEntity denotes REN D012083
T13 978-988 ChemicalEntity denotes tryptophan http://purl.obolibrary.org/obo/CHEBI_57912|http://purl.obolibrary.org/obo/CHEBI_57719|http://purl.obolibrary.org/obo/CHEBI_27897|http://purl.obolibrary.org/obo/CHEBI_16828
T17 992-1000 ChemicalEntity denotes arginine http://purl.obolibrary.org/obo/CHEBI_32696|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_16467
T20 1125-1128 ChemicalEntity denotes REN D012083
T21 1268-1271 ChemicalEntity denotes REN D012083
T22 1458-1461 ChemicalEntity denotes REN D012083
T23 1552-1555 ChemicalEntity denotes REN D012083

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T23 1552-1555 ChemicalEntity denotes REN D012083
T22 1458-1461 ChemicalEntity denotes REN D012083
T21 1268-1271 ChemicalEntity denotes REN D012083
T20 1125-1128 ChemicalEntity denotes REN D012083
T17 992-1000 ChemicalEntity denotes arginine http://purl.obolibrary.org/obo/CHEBI_16467|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_32696
T13 978-988 ChemicalEntity denotes tryptophan http://purl.obolibrary.org/obo/CHEBI_16828|http://purl.obolibrary.org/obo/CHEBI_27897|http://purl.obolibrary.org/obo/CHEBI_57719|http://purl.obolibrary.org/obo/CHEBI_57912
T12 936-939 ChemicalEntity denotes REN D012083
T10 896-904 ChemicalEntity denotes cytosine http://purl.obolibrary.org/obo/CHEBI_16040|D003596
T9 883-892 ChemicalEntity denotes thymidine http://purl.obolibrary.org/obo/CHEBI_17748
T8 675-678 ChemicalEntity denotes REN D012083
T7 605-608 ChemicalEntity denotes REN D012083
T6 459-462 ChemicalEntity denotes REN D012083
T5 382-393 ChemicalEntity denotes angiotensin http://purl.obolibrary.org/obo/CHEBI_48433
T4 339-378 ChemicalEntity denotes angiotensin-converting enzyme inhibitor ChemicalEntity
T3 165-168 ChemicalEntity denotes REN D012083
T2 158-163 ChemicalEntity denotes renin D012083
T1 53-58 ChemicalEntity denotes renin D012083
T18 1676-1690 GeneOrGeneProduct denotes signal peptide
T62544 1552-1555 GeneOrGeneProduct denotes REN
T16 1458-1461 GeneOrGeneProduct denotes REN
T15 1268-1271 GeneOrGeneProduct denotes REN
T14 1125-1128 GeneOrGeneProduct denotes REN
T55345 936-939 GeneOrGeneProduct denotes REN
T94276 807-834 GeneOrGeneProduct denotes hepatocyte nuclear factor 1
T11 800-805 GeneOrGeneProduct denotes HNF1B
T65264 784-794 GeneOrGeneProduct denotes uromodulin
T85927 778-782 GeneOrGeneProduct denotes UMOD
T74450 675-678 GeneOrGeneProduct denotes REN
T29803 605-608 GeneOrGeneProduct denotes REN
T21977 459-462 GeneOrGeneProduct denotes REN
T60468 382-402 GeneOrGeneProduct denotes angiotensin receptor
T34530 165-168 GeneOrGeneProduct denotes REN
T98643 158-163 GeneOrGeneProduct denotes renin
T60777 53-58 GeneOrGeneProduct denotes renin
T16831 35-49 GeneOrGeneProduct denotes signal peptide
T32687 1606-1612 DiseaseOrPhenotypicFeature denotes anemia D000740
T26770 1588-1601 DiseaseOrPhenotypicFeature denotes hyperuricemia D033461
T19 1579-1582 DiseaseOrPhenotypicFeature denotes CKD D051436
T35495 1351-1357 DiseaseOrPhenotypicFeature denotes Anemia D000740
T42418 1346-1349 DiseaseOrPhenotypicFeature denotes CKD D051436
T18977 1327-1340 DiseaseOrPhenotypicFeature denotes hyperuricemia D033461
T24893 1319-1325 DiseaseOrPhenotypicFeature denotes anemia D000740
T28823 1172-1175 DiseaseOrPhenotypicFeature denotes CKD D051436
T76159 722-725 DiseaseOrPhenotypicFeature denotes CKD D051436
T73209 704-717 DiseaseOrPhenotypicFeature denotes hyperuricemia D033461
T67502 560-563 DiseaseOrPhenotypicFeature denotes CKD D051436
T975 536-558 DiseaseOrPhenotypicFeature denotes chronic kidney disease D051436
T94451 524-530 DiseaseOrPhenotypicFeature denotes anemia D000740
T24376 509-522 DiseaseOrPhenotypicFeature denotes hyperuricemia D033461
T47458 319-328 DiseaseOrPhenotypicFeature denotes fetopathy DISEASE
T29313 269-289 DiseaseOrPhenotypicFeature denotes pulmonary hypoplasia DISEASE
T98568 250-264 DiseaseOrPhenotypicFeature denotes kidney failure D051437
T64640 176-200 DiseaseOrPhenotypicFeature denotes renal tubular dysgenesis C537048
T55177 104-107 DiseaseOrPhenotypicFeature denotes CKD D051436
T15051 85-98 DiseaseOrPhenotypicFeature denotes hyperuricemia D033461
T87390 77-83 DiseaseOrPhenotypicFeature denotes anemia D000740
T37170 1565-1573 OrganismTaxon denotes patients
T28669 1158-1166 OrganismTaxon denotes patients
T85647 1084-1090 SequenceVariant denotes p.W10R
T37086 1075-1082 SequenceVariant denotes c.28T>C

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-108 Sentence denotes Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD.
TextSentencer_T2 109-290 Sentence denotes Homozygous or compound heterozygous mutations in renin (REN) cause renal tubular dysgenesis, which is characterized by death in utero due to kidney failure and pulmonary hypoplasia.
TextSentencer_T3 291-435 Sentence denotes The phenotype resembles the fetopathy caused by angiotensin-converting enzyme inhibitor or angiotensin receptor blocker intake during pregnancy.
TextSentencer_T4 436-565 Sentence denotes Recently, heterozygous REN mutations were shown to result in early-onset hyperuricemia, anemia, and chronic kidney disease (CKD).
TextSentencer_T5 566-639 Sentence denotes To date, only 3 different heterozygous REN mutations have been published.
TextSentencer_T6 640-843 Sentence denotes We report mutation analysis of the REN gene in 39 kindreds with hyperuricemia and CKD who previously tested negative for mutations in the UMOD (uromodulin) and HNF1B (hepatocyte nuclear factor 1β) genes.
TextSentencer_T7 844-1092 Sentence denotes We identified one kindred with a novel thymidine to cytosine mutation at position 28 in the REN complementary DNA, corresponding to a tryptophan to arginine substitution at amino acid 10, which is found within the signal sequence (c.28T>C; p.W10R).
TextSentencer_T8 1093-1176 Sentence denotes On this basis, we conclude that REN mutations are rare events in patients with CKD.
TextSentencer_T9 1177-1350 Sentence denotes Within the kindred, we found affected individuals over 4 generations who carried the novel REN mutation and were characterized by significant anemia, hyperuricemia, and CKD.
TextSentencer_T10 1351-1432 Sentence denotes Anemia was severe and disproportional to the degree of decreased kidney function.
TextSentencer_T11 1433-1691 Sentence denotes Because all heterozygous REN mutations that have been described are localized in the signal sequence, screening of the REN gene for patients with CKD with hyperuricemia and anemia may best be focused on sequencing of exon 1, which encodes the signal peptide.
T1 0-108 Sentence denotes Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD.
T2 109-290 Sentence denotes Homozygous or compound heterozygous mutations in renin (REN) cause renal tubular dysgenesis, which is characterized by death in utero due to kidney failure and pulmonary hypoplasia.
T3 291-435 Sentence denotes The phenotype resembles the fetopathy caused by angiotensin-converting enzyme inhibitor or angiotensin receptor blocker intake during pregnancy.
T4 436-565 Sentence denotes Recently, heterozygous REN mutations were shown to result in early-onset hyperuricemia, anemia, and chronic kidney disease (CKD).
T5 566-639 Sentence denotes To date, only 3 different heterozygous REN mutations have been published.
T6 640-843 Sentence denotes We report mutation analysis of the REN gene in 39 kindreds with hyperuricemia and CKD who previously tested negative for mutations in the UMOD (uromodulin) and HNF1B (hepatocyte nuclear factor 1β) genes.
T7 844-1092 Sentence denotes We identified one kindred with a novel thymidine to cytosine mutation at position 28 in the REN complementary DNA, corresponding to a tryptophan to arginine substitution at amino acid 10, which is found within the signal sequence (c.28T>C; p.W10R).
T8 1093-1176 Sentence denotes On this basis, we conclude that REN mutations are rare events in patients with CKD.
T9 1177-1350 Sentence denotes Within the kindred, we found affected individuals over 4 generations who carried the novel REN mutation and were characterized by significant anemia, hyperuricemia, and CKD.
T10 1351-1432 Sentence denotes Anemia was severe and disproportional to the degree of decreased kidney function.
T11 1433-1691 Sentence denotes Because all heterozygous REN mutations that have been described are localized in the signal sequence, screening of the REN gene for patients with CKD with hyperuricemia and anemia may best be focused on sequencing of exon 1, which encodes the signal peptide.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1458-1461 gene:5972 denotes REN
T1 1606-1612 disease:C0002871 denotes anemia
T2 1552-1555 gene:5972 denotes REN
T3 1579-1582 disease:C1561643 denotes CKD
T4 1552-1555 gene:5972 denotes REN
T5 1588-1601 disease:C0740394 denotes hyperuricemia
T6 1552-1555 gene:5972 denotes REN
T7 1606-1612 disease:C0002871 denotes anemia
R1 T0 T1 associated_with REN,anemia
R2 T2 T3 associated_with REN,CKD
R3 T4 T5 associated_with REN,hyperuricemia
R4 T6 T7 associated_with REN,anemia

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 176-200 HP_0008660 denotes renal tubular dysgenesis
T2 269-289 HP_0002089 denotes pulmonary hypoplasia
T3 509-522 HP_0002149 denotes hyperuricemia
T4 524-530 HP_0001903 denotes anemia
T5 536-558 HP_0012622 denotes chronic kidney disease
T6 704-717 HP_0002149 denotes hyperuricemia
T7 1319-1325 HP_0001903 denotes anemia
T8 1327-1340 HP_0002149 denotes hyperuricemia
T9 1351-1357 HP_0001903 denotes Anemia
T10 1588-1601 HP_0002149 denotes hyperuricemia
T11 1606-1612 HP_0001903 denotes anemia

Allie

Id Subject Object Predicate Lexical cue
SS1_21903317_1_0 158-163 expanded denotes renin
SS2_21903317_1_0 165-168 abbr denotes REN
SS1_21903317_3_0 536-558 expanded denotes chronic kidney disease
SS2_21903317_3_0 560-563 abbr denotes CKD
SS1_21903317_5_0 807-835 expanded denotes hepatocyte nuclear factor 1β
SS2_21903317_5_0 800-805 abbr denotes HNF1B
AE1_21903317_1_0 SS1_21903317_1_0 SS2_21903317_1_0 abbreviatedTo renin,REN
AE1_21903317_3_0 SS1_21903317_3_0 SS2_21903317_3_0 abbreviatedTo chronic kidney disease,CKD
AE1_21903317_5_0 SS1_21903317_5_0 SS2_21903317_5_0 abbreviatedTo hepatocyte nuclear factor 1β,HNF1B

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
21903317-0#53#58#gene5972 53-58 gene5972 denotes renin
21903317-0#77#83#diseaseC0002871 77-83 diseaseC0002871 denotes anemia
21903317-0#104#107#diseaseC1561643 104-107 diseaseC1561643 denotes CKD
21903317-1#49#54#gene5972 158-163 gene5972 denotes renin
21903317-1#56#59#gene5972 165-168 gene5972 denotes REN
21903317-1#67#91#diseaseC0266313 176-200 diseaseC0266313 denotes renal tubular dysgenesis
21903317-1#141#155#diseaseC0035078 250-264 diseaseC0035078 denotes kidney failure
21903317-1#160#180#diseaseC0265783 269-289 diseaseC0265783 denotes pulmonary hypoplasia
21903317-1#67#91#diseaseC0266313 176-200 diseaseC0266313 denotes renal tubular dysgenesis
21903317-1#141#155#diseaseC0035078 250-264 diseaseC0035078 denotes kidney failure
21903317-1#160#180#diseaseC0265783 269-289 diseaseC0265783 denotes pulmonary hypoplasia
21903317-10#119#122#gene5972 1552-1555 gene5972 denotes REN
21903317-10#155#168#diseaseC0740394 1588-1601 diseaseC0740394 denotes hyperuricemia
21903317-5#138#142#gene7369 778-782 gene7369 denotes UMOD
21903317-5#144#154#gene7369 784-794 gene7369 denotes uromodulin
21903317-5#160#165#gene6928 800-805 gene6928 denotes HNF1B
21903317-5#167#195#gene6928 807-835 gene6928 denotes hepatocyte nuclear factor 1β
21903317-5#82#85#diseaseC1561643 722-725 diseaseC1561643 denotes CKD
21903317-5#64#77#diseaseC0740394 704-717 diseaseC0740394 denotes hyperuricemia
21903317-5#82#85#diseaseC1561643 722-725 diseaseC1561643 denotes CKD
21903317-5#64#77#diseaseC0740394 704-717 diseaseC0740394 denotes hyperuricemia
21903317-5#82#85#diseaseC1561643 722-725 diseaseC1561643 denotes CKD
21903317-5#64#77#diseaseC0740394 704-717 diseaseC0740394 denotes hyperuricemia
21903317-5#82#85#diseaseC1561643 722-725 diseaseC1561643 denotes CKD
53#58#gene597277#83#diseaseC0002871 21903317-0#53#58#gene5972 21903317-0#77#83#diseaseC0002871 associated_with renin,anemia
53#58#gene5972104#107#diseaseC1561643 21903317-0#53#58#gene5972 21903317-0#104#107#diseaseC1561643 associated_with renin,CKD
49#54#gene597267#91#diseaseC0266313 21903317-1#49#54#gene5972 21903317-1#67#91#diseaseC0266313 associated_with renin,renal tubular dysgenesis
49#54#gene5972141#155#diseaseC0035078 21903317-1#49#54#gene5972 21903317-1#141#155#diseaseC0035078 associated_with renin,kidney failure
49#54#gene5972160#180#diseaseC0265783 21903317-1#49#54#gene5972 21903317-1#160#180#diseaseC0265783 associated_with renin,pulmonary hypoplasia
49#54#gene597267#91#diseaseC0266313 21903317-1#49#54#gene5972 21903317-1#67#91#diseaseC0266313 associated_with renin,renal tubular dysgenesis
49#54#gene5972141#155#diseaseC0035078 21903317-1#49#54#gene5972 21903317-1#141#155#diseaseC0035078 associated_with renin,kidney failure
49#54#gene5972160#180#diseaseC0265783 21903317-1#49#54#gene5972 21903317-1#160#180#diseaseC0265783 associated_with renin,pulmonary hypoplasia
56#59#gene597267#91#diseaseC0266313 21903317-1#56#59#gene5972 21903317-1#67#91#diseaseC0266313 associated_with REN,renal tubular dysgenesis
56#59#gene5972141#155#diseaseC0035078 21903317-1#56#59#gene5972 21903317-1#141#155#diseaseC0035078 associated_with REN,kidney failure
56#59#gene5972160#180#diseaseC0265783 21903317-1#56#59#gene5972 21903317-1#160#180#diseaseC0265783 associated_with REN,pulmonary hypoplasia
56#59#gene597267#91#diseaseC0266313 21903317-1#56#59#gene5972 21903317-1#67#91#diseaseC0266313 associated_with REN,renal tubular dysgenesis
56#59#gene5972141#155#diseaseC0035078 21903317-1#56#59#gene5972 21903317-1#141#155#diseaseC0035078 associated_with REN,kidney failure
56#59#gene5972160#180#diseaseC0265783 21903317-1#56#59#gene5972 21903317-1#160#180#diseaseC0265783 associated_with REN,pulmonary hypoplasia
119#122#gene5972155#168#diseaseC0740394 21903317-10#119#122#gene5972 21903317-10#155#168#diseaseC0740394 associated_with REN,hyperuricemia
138#142#gene736982#85#diseaseC1561643 21903317-5#138#142#gene7369 21903317-5#82#85#diseaseC1561643 associated_with UMOD,CKD
138#142#gene736964#77#diseaseC0740394 21903317-5#138#142#gene7369 21903317-5#64#77#diseaseC0740394 associated_with UMOD,hyperuricemia
138#142#gene736982#85#diseaseC1561643 21903317-5#138#142#gene7369 21903317-5#82#85#diseaseC1561643 associated_with UMOD,CKD
138#142#gene736964#77#diseaseC0740394 21903317-5#138#142#gene7369 21903317-5#64#77#diseaseC0740394 associated_with UMOD,hyperuricemia
138#142#gene736982#85#diseaseC1561643 21903317-5#138#142#gene7369 21903317-5#82#85#diseaseC1561643 associated_with UMOD,CKD
138#142#gene736964#77#diseaseC0740394 21903317-5#138#142#gene7369 21903317-5#64#77#diseaseC0740394 associated_with UMOD,hyperuricemia
138#142#gene736982#85#diseaseC1561643 21903317-5#138#142#gene7369 21903317-5#82#85#diseaseC1561643 associated_with UMOD,CKD
144#154#gene736982#85#diseaseC1561643 21903317-5#144#154#gene7369 21903317-5#82#85#diseaseC1561643 associated_with uromodulin,CKD
144#154#gene736964#77#diseaseC0740394 21903317-5#144#154#gene7369 21903317-5#64#77#diseaseC0740394 associated_with uromodulin,hyperuricemia
144#154#gene736982#85#diseaseC1561643 21903317-5#144#154#gene7369 21903317-5#82#85#diseaseC1561643 associated_with uromodulin,CKD
144#154#gene736964#77#diseaseC0740394 21903317-5#144#154#gene7369 21903317-5#64#77#diseaseC0740394 associated_with uromodulin,hyperuricemia
144#154#gene736982#85#diseaseC1561643 21903317-5#144#154#gene7369 21903317-5#82#85#diseaseC1561643 associated_with uromodulin,CKD
144#154#gene736964#77#diseaseC0740394 21903317-5#144#154#gene7369 21903317-5#64#77#diseaseC0740394 associated_with uromodulin,hyperuricemia
144#154#gene736982#85#diseaseC1561643 21903317-5#144#154#gene7369 21903317-5#82#85#diseaseC1561643 associated_with uromodulin,CKD
160#165#gene692882#85#diseaseC1561643 21903317-5#160#165#gene6928 21903317-5#82#85#diseaseC1561643 associated_with HNF1B,CKD
160#165#gene692864#77#diseaseC0740394 21903317-5#160#165#gene6928 21903317-5#64#77#diseaseC0740394 associated_with HNF1B,hyperuricemia
160#165#gene692882#85#diseaseC1561643 21903317-5#160#165#gene6928 21903317-5#82#85#diseaseC1561643 associated_with HNF1B,CKD
160#165#gene692864#77#diseaseC0740394 21903317-5#160#165#gene6928 21903317-5#64#77#diseaseC0740394 associated_with HNF1B,hyperuricemia
160#165#gene692882#85#diseaseC1561643 21903317-5#160#165#gene6928 21903317-5#82#85#diseaseC1561643 associated_with HNF1B,CKD
160#165#gene692864#77#diseaseC0740394 21903317-5#160#165#gene6928 21903317-5#64#77#diseaseC0740394 associated_with HNF1B,hyperuricemia
160#165#gene692882#85#diseaseC1561643 21903317-5#160#165#gene6928 21903317-5#82#85#diseaseC1561643 associated_with HNF1B,CKD
167#195#gene692882#85#diseaseC1561643 21903317-5#167#195#gene6928 21903317-5#82#85#diseaseC1561643 associated_with hepatocyte nuclear factor 1β,CKD
167#195#gene692864#77#diseaseC0740394 21903317-5#167#195#gene6928 21903317-5#64#77#diseaseC0740394 associated_with hepatocyte nuclear factor 1β,hyperuricemia
167#195#gene692882#85#diseaseC1561643 21903317-5#167#195#gene6928 21903317-5#82#85#diseaseC1561643 associated_with hepatocyte nuclear factor 1β,CKD
167#195#gene692864#77#diseaseC0740394 21903317-5#167#195#gene6928 21903317-5#64#77#diseaseC0740394 associated_with hepatocyte nuclear factor 1β,hyperuricemia
167#195#gene692882#85#diseaseC1561643 21903317-5#167#195#gene6928 21903317-5#82#85#diseaseC1561643 associated_with hepatocyte nuclear factor 1β,CKD
167#195#gene692864#77#diseaseC0740394 21903317-5#167#195#gene6928 21903317-5#64#77#diseaseC0740394 associated_with hepatocyte nuclear factor 1β,hyperuricemia
167#195#gene692882#85#diseaseC1561643 21903317-5#167#195#gene6928 21903317-5#82#85#diseaseC1561643 associated_with hepatocyte nuclear factor 1β,CKD

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 250-256 http://purl.obolibrary.org/obo/UBERON_0002113 denotes kidney
PD-UBERON-AE-B_T2 544-550 http://purl.obolibrary.org/obo/UBERON_0002113 denotes kidney
PD-UBERON-AE-B_T3 1416-1422 http://purl.obolibrary.org/obo/UBERON_0002113 denotes kidney

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 77-83 HP:0001903 denotes anemia
TI2 85-98 HP:0002149 denotes hyperuricemia
AB1 269-289 HP:0002089 denotes pulmonary hypoplasia
AB2 509-522 HP:0002149 denotes hyperuricemia
AB3 524-530 HP:0001903 denotes anemia
AB4 536-558 HP:0012622 denotes chronic kidney disease
AB5 704-717 HP:0002149 denotes hyperuricemia
AB6 1319-1325 HP:0001903 denotes anemia
AB7 1327-1340 HP:0002149 denotes hyperuricemia
AB8 1351-1357 HP:0001903 denotes Anemia
AB9 1588-1601 HP:0002149 denotes hyperuricemia
AB10 1606-1612 HP:0001903 denotes anemia

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 176-200 ORDO:3033 denotes renal tubular dysgenesis

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 250-256 http://purl.obolibrary.org/obo/UBERON_0002113 denotes kidney
PD-UBERON-AE-B_T2 544-550 http://purl.obolibrary.org/obo/UBERON_0002113 denotes kidney
PD-UBERON-AE-B_T3 1416-1422 http://purl.obolibrary.org/obo/UBERON_0002113 denotes kidney

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 1075-1082 DNAMutation:c|SUB|T|28|C denotes c.28T>C
T2 1084-1090 ProteinMutation:p|SUB|W|10|R denotes p.W10R